diff --git "a/gard-id-name-synonyms.json" "b/gard-id-name-synonyms.json" new file mode 100644--- /dev/null +++ "b/gard-id-name-synonyms.json" @@ -0,0 +1,50942 @@ +[ + { + "gard_id": "GARD:0000001", + "name": "GRACILE syndrome", + "synonyms": [ + "FLNMS", + "Finnish lactic acidosis with hepatic hemosiderosis", + "Fellman syndrome", + "Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death", + "Finnish lethal neonatal metabolic syndrome", + "Fellman disease", + "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome", + "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" + ] + }, + { + "gard_id": "GARD:0000003", + "name": "Ablepharon macrostomia syndrome", + "synonyms": [ + "AMS", + "Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" + ] + }, + { + "gard_id": "GARD:0000004", + "name": "Acanthocheilonemiasis", + "synonyms": [ + "Dipetalonemiasis", + "Dipetalonema infections", + "Acanthocheilonema perstans infection", + "Mansonella perstans" + ] + }, + { + "gard_id": "GARD:0000005", + "name": "Abetalipoproteinemia", + "synonyms": [ + "Bassen Kornzweig syndrome", + "Microsomal triglyceride transfer protein deficiency disease", + "Microsomal triglyceride transfer protein deficiency", + "ABL", + "Abetalipoproteinemia neuropathy", + "Apolipoprotein B deficiency", + "Betalipoprotein deficiency disease", + "Congenital betalipoprotein deficiency syndrome", + "MTP deficiency", + "Bassen-Kornzweig disease", + "Homozygous familial hypobetalipoproteinemia" + ] + }, + { + "gard_id": "GARD:0000006", + "name": "Acromesomelic dysplasia", + "synonyms": [ + "Acromesomelic dwarfism" + ] + }, + { + "gard_id": "GARD:0000007", + "name": "Acromicric dysplasia", + "synonyms": [ + "Acromicric skeletal dysplasia" + ] + }, + { + "gard_id": "GARD:0000008", + "name": "Agnosia", + "synonyms": [ + "Primary visual agnosia", + "Monomodal visual amnesia", + "Visual amnesia" + ] + }, + { + "gard_id": "GARD:0000011", + "name": "Alternating hemiplegia of childhood", + "synonyms": [ + "Alternating hemiplegia syndrome", + "AHC", + "Alternating hemiplegia" + ] + }, + { + "gard_id": "GARD:0000012", + "name": "Hypersensitivity pneumonitis", + "synonyms": [ + "Allergic interstitial pneumonitis", + "Alveolitis, extrinsic allergic", + "Hypersensitivity pneumonitis", + "Allergic pneumonitis", + "Extrinsic allergic pneumonia hypersensitivity Pneumonitis", + "HP" + ] + }, + { + "gard_id": "GARD:0000013", + "name": "Gillespie syndrome", + "synonyms": [ + "Aniridia, cerebellar ataxia and mental deficiency" + ] + }, + { + "gard_id": "GARD:0000016", + "name": "Oculomotor apraxia Cogan type", + "synonyms": [ + "Congenital oculomotor apraxia", + "Cogan's syndrome type 2", + "Saccade initiation failure congenital", + "COMA" + ] + }, + { + "gard_id": "GARD:0000017", + "name": "Arachnoid cysts", + "synonyms": [ + "Arachnoid cysts, intracranial", + "Intracranial arachnoid cysts" + ] + }, + { + "gard_id": "GARD:0000022", + "name": "Bjornstad syndrome", + "synonyms": [ + "BJS", + "Pili torti and nerve deafness", + "PTND", + "Pili torti-sensorineural hearing loss", + "Deafness and pili torti, Bjornstad type" + ] + }, + { + "gard_id": "GARD:0000026", + "name": "Cat eye syndrome", + "synonyms": [ + "Schmid-Fraccaro syndrome", + "CES", + "Chromosome 22 partial tetrasomy", + "INV DUP(22)(Q11)" + ] + }, + { + "gard_id": "GARD:0000027", + "name": "Cat scratch disease", + "synonyms": [ + "Bartonellosis due to Bartonella henselae infection", + "Cat scratch fever" + ] + }, + { + "gard_id": "GARD:0000028", + "name": "Catel Manzke syndrome", + "synonyms": [ + "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome", + "Pierre Robin syndrome with hyperphalangy and clinodactyly", + "Palatodigital syndrome Catel-Manzke type", + "Index finger anomaly with Pierre Robin syndrome" + ] + }, + { + "gard_id": "GARD:0000029", + "name": "CHARGE syndrome", + "synonyms": [ + "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", + "CHARGE association", + "Hall-Hittner syndrome" + ] + }, + { + "gard_id": "GARD:0000030", + "name": "Cholecystitis", + "synonyms": [ + "Gallstone cholecystitis", + "Acalculous cholecystitis" + ] + }, + { + "gard_id": "GARD:0000031", + "name": "Serpiginous choroiditis", + "synonyms": [ + "Geographic choroiditis", + "Geographic helicoid peripapillary choroidopathy (GHPC)", + "Geographic serpiginous choroiditis", + "Peripapillary choriopathy", + "Serpiginous choroidopathy" + ] + }, + { + "gard_id": "GARD:0000035", + "name": "Chromosome 18p tetrasomy", + "synonyms": [ + "Tetrasomy 18p", + "Tetrasomy chromosome 18p", + "Isochromosome 18p" + ] + }, + { + "gard_id": "GARD:0000037", + "name": "Partial deletion of the short arm of chromosome 3", + "synonyms": [ + "Partial deletion 3p", + "3p partial deletion", + "Partial monosomy 3p", + "Partial deletion of chromosome 3p", + "Partial monosomy of chromosome 3p", + "Partial monosomy of the short arm of chromosome 3" + ] + }, + { + "gard_id": "GARD:0000039", + "name": "WT limb blood syndrome", + "synonyms": [ + "WT syndrome", + "Radial-ulnar hypoplasia with bone marrow failure and/or leukemia" + ] + }, + { + "gard_id": "GARD:0000042", + "name": "Tetrasomy 9p", + "synonyms": [ + "Chromosome 9p tetrasomy", + "Tetrasomy of short arm of chromosome 9", + "Mosaic tetrasomy 9p" + ] + }, + { + "gard_id": "GARD:0000043", + "name": "Mosaic trisomy 9", + "synonyms": [ + "Mosaic trisomy chromosome 9", + "Trisomy 9 mosaicism" + ] + }, + { + "gard_id": "GARD:0000044", + "name": "Haim-Munk syndrome", + "synonyms": [ + "HMS", + "Keratosis palmoplantaris with periodontopathia and onychogryposis", + "Cochin Jewish disorder" + ] + }, + { + "gard_id": "GARD:0000045", + "name": "Congenital varicella syndrome", + "synonyms": [ + "Fetal effects of Chickenpox", + "Fetal varicella infection", + "Fetal varicella zoster syndrome", + "Fetal effects of varicella zoster virus", + "Varicella Embryopathy", + "Varicella virus antenatal infection" + ] + }, + { + "gard_id": "GARD:0000046", + "name": "Corticobasal degeneration", + "synonyms": [ + "Cortical-Basal Ganglionic degeneration", + "Cortico-Basal Ganglionic Degeneration (CBGD)", + "CBGD", + "Corticobasal syndrome" + ] + }, + { + "gard_id": "GARD:0000047", + "name": "Crigler Najjar syndrome, type 1", + "synonyms": [ + "Crigler-Najjar syndrome, type I" + ] + }, + { + "gard_id": "GARD:0000048", + "name": "Cytochrome c oxidase deficiency", + "synonyms": [ + "Complex 4 mitochondrial respiratory chain deficiency", + "Deficiency of mitochondrial respiratory chain complex4", + "COX deficiency", + "Complex IV deficiency", + "Mitochondrial complex IV deficiency" + ] + }, + { + "gard_id": "GARD:0000049", + "name": "De Barsy syndrome", + "synonyms": [ + "Corneal clouding, cutis laxa and intellectual disability", + "Progeroid syndrome of De Barsy", + "Cutis laxa growth deficiency syndrome", + "Progeroid syndrome, De Barsy type", + "Cutis laxa-corneal clouding-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0000054", + "name": "Duodenal atresia", + "synonyms": [ + "Duodenal stenosis" + ] + }, + { + "gard_id": "GARD:0000059", + "name": "Spinocerebellar ataxia 34", + "synonyms": [ + "SCA34", + "Giroux Barbeau Syndrome", + "Erythrokeratodermia - ataxia", + "Erythrokeratodermia with ataxia" + ] + }, + { + "gard_id": "GARD:0000060", + "name": "Iridocorneal endothelial syndrome", + "synonyms": [ + "ICE syndrome" + ] + }, + { + "gard_id": "GARD:0000061", + "name": "Femoral facial syndrome", + "synonyms": [ + "Femoral dysgenesis, bilateral", + "FFS", + "Femoral hypoplasia unusual facies syndrome", + "FHUFS" + ] + }, + { + "gard_id": "GARD:0000062", + "name": "Filippi syndrome", + "synonyms": [ + "Syndactyly type I with microcephaly and mental retardation", + "Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly", + "Type 1 syndactyly-microcephaly-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0000064", + "name": "Fountain syndrome", + "synonyms": [ + "Intellectual disability, deafness, skeletal abnormalities, coarse face with full lips", + "Deafness, skeletal dysplasia, lip granuloma" + ] + }, + { + "gard_id": "GARD:0000065", + "name": "Galloway-Mowat syndrome", + "synonyms": [ + "Galloway Mowat syndrome", + "Galloway syndrome", + "Microcephaly nephrosis syndrome", + "Nephrosis neuronal dysmigration syndrome", + "Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type", + "Microcephaly, hiatal hernia, and nephrotic syndrome" + ] + }, + { + "gard_id": "GARD:0000066", + "name": "Gorlin Chaudhry Moss syndrome", + "synonyms": [ + "Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies", + "GCM syndrome", + "Gorlin-Chaudhry-Moss syndrome" + ] + }, + { + "gard_id": "GARD:0000068", + "name": "Hanhart syndrome", + "synonyms": [ + "Aglossia adactylia", + "Hypoglossia-hypodactylia syndrome", + "Peromelia with micrognathia" + ] + }, + { + "gard_id": "GARD:0000069", + "name": "Hantavirus pulmonary syndrome", + "synonyms": [ + "HPS", + "Hantavirus", + "Hantavirus-associated respiratory distress syndrome", + "HARDS", + "Four corners hantavirus" + ] + }, + { + "gard_id": "GARD:0000070", + "name": "Hemangioma thrombocytopenia syndrome", + "synonyms": [ + "Kasabach Merritt syndrome", + "Thrombocytopenia-hemangioma syndrome", + "Kasabach Merritt phenomenon", + "KMP" + ] + }, + { + "gard_id": "GARD:0000071", + "name": "Human granulocytic ehrlichiosis", + "synonyms": [ + "Human ehrlichial infection, human granulocytic type", + "HGE" + ] + }, + { + "gard_id": "GARD:0000072", + "name": "Human monocytic ehrlichiosis", + "synonyms": [ + "Human ehrlichial infection, human monocytic type", + "HME" + ] + }, + { + "gard_id": "GARD:0000073", + "name": "Immunodeficiency with hyper IgM type 1", + "synonyms": [ + "X-linked hyper IgM syndrome", + "Hyper IgM immunodeficiency, x-linked", + "Hyper IgM syndrome", + "Hyper IgM syndrome 1", + "XHIM", + "HIGM", + "IHIS", + "HIGM1" + ] + }, + { + "gard_id": "GARD:0000076", + "name": "Hypohidrotic ectodermal dysplasia", + "synonyms": [ + "HED", + "Ectodermal dysplasia, hypohidrotic", + "Anhidrotic ectodermal dysplasia", + "Ectodermal dysplasia anhidrotic", + "EDA" + ] + }, + { + "gard_id": "GARD:0000079", + "name": "Jansen type metaphyseal chondrodysplasia", + "synonyms": [ + "Metaphyseal chondrodysplasia Murk Jansen type", + "Murk Jansen type metaphyseal chondrodysplasia" + ] + }, + { + "gard_id": "GARD:0000080", + "name": "Johanson-Blizzard syndrome", + "synonyms": [ + "JBS", + "Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness" + ] + }, + { + "gard_id": "GARD:0000081", + "name": "Juberg Marsidi syndrome", + "synonyms": [ + "Intellectual disability, X-linked with Growth Delay, Deafness, Microgenitalism", + "Juberg-Marsidi Intellectual disability syndrome", + "JMS", + "X-linked hypogonadism gynecomastia intellectual disability", + "X-linked intellectual disability-hypotonic facies syndrome 1", + "Juberg-Marsidi syndrome", + "Intellectual disability, x-linked, with growth retardation, deafness, and microgenitalism" + ] + }, + { + "gard_id": "GARD:0000082", + "name": "KBG syndrome", + "synonyms": [ + "Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" + ] + }, + { + "gard_id": "GARD:0000083", + "name": "Kenny-Caffey syndrome type 2", + "synonyms": [ + "KCS2", + "Dwarfism, cortical thickening of tubular bones and transient hypocalcemia", + "Kenny-Caffey syndrome, autosomal dominant" + ] + }, + { + "gard_id": "GARD:0000084", + "name": "Congenital generalized lipodystrophy type 1", + "synonyms": [ + "Berardinelli-Seip congenital lipodystrophy type 1", + "BSCL1", + "AGPAT2-related Brunzell syndrome" + ] + }, + { + "gard_id": "GARD:0000085", + "name": "Thanatophoric dysplasia", + "synonyms": [ + "Dwarfism thanatophoric", + "Thanatophoric Dwarfism", + "TD" + ] + }, + { + "gard_id": "GARD:0000086", + "name": "Chudley-Mccullough syndrome", + "synonyms": [ + "Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts", + "Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction" + ] + }, + { + "gard_id": "GARD:0000087", + "name": "Lenz microphthalmia syndrome", + "synonyms": [ + "Microphthalmia syndromic 1", + "MCOPS1", + "Lenz dysplasia", + "Syndromic microphthalmia type 1", + "MAA (formerly)", + "Microphthalmia or anophthalmos with associated anomalies (formerly)", + "Microphthalmia Lenz type" + ] + }, + { + "gard_id": "GARD:0000088", + "name": "Leri pleonosteosis", + "synonyms": [ + "Leri type pleonosteosis", + "Leri's pleonosteosis", + "Pleonosteosis Leri type" + ] + }, + { + "gard_id": "GARD:0000089", + "name": "Gastric Non-Hodgkin Lymphoma", + "synonyms": [ + "Non-Hodgkins gastric Lymphoma", + "Stomach Lymphoma, Non-Hodgkins type" + ] + }, + { + "gard_id": "GARD:0000091", + "name": "Malignant melanoma, childhood", + "synonyms": null + }, + { + "gard_id": "GARD:0000092", + "name": "Meleda disease", + "synonyms": [ + "Keratosis palmoplantaris transgradiens of Siemens", + "MDM", + "Mal de Meleda" + ] + }, + { + "gard_id": "GARD:0000093", + "name": "Monilethrix", + "synonyms": [ + "Nodose hair" + ] + }, + { + "gard_id": "GARD:0000094", + "name": "Mucolipidosis type 4", + "synonyms": [ + "ML 4", + "Berman syndrome", + "Ganglioside neuraminidase deficiency", + "Ganglioside sialidase deficiency", + "Mucolipidosis type IV" + ] + }, + { + "gard_id": "GARD:0000095", + "name": "Mulibrey Nanism", + "synonyms": [ + "Muscle-liver-brain-eye nanism", + "Pericardial constriction and growth failure", + "Perheentupa syndrome" + ] + }, + { + "gard_id": "GARD:0000101", + "name": "Centronuclear myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0000102", + "name": "Neu Laxova syndrome", + "synonyms": [ + "NLS", + "3-phosphoglycerate dehydrogenase deficiency, neonatal form", + "Neu-Laxova syndrome" + ] + }, + { + "gard_id": "GARD:0000104", + "name": "Ochoa syndrome", + "synonyms": [ + "Hydronephrosis with peculiar facial expression", + "Urofacial syndrome", + "Inverted smile and occult neuropathic bladder", + "Partial facial palsy with urinary abnormalities", + "Urofacial Ochoa's syndrome", + "UFS" + ] + }, + { + "gard_id": "GARD:0000105", + "name": "Oculocerebral syndrome with hypopigmentation", + "synonyms": [ + "Cross syndrome", + "Kramer syndrome", + "Oculocerebral hypopigmentation syndrome", + "Hypopigmentation oculocerebral syndrome Cross type" + ] + }, + { + "gard_id": "GARD:0000106", + "name": "Oculocerebrocutaneous syndrome", + "synonyms": [ + "Delleman syndrome", + "Delleman Oorthuys syndrome", + "Orbital cyst with cerebral and focal dermal malformations", + "OCCS", + "OCC Syndrome", + "Oculo-cerebro-cutaneous syndrome" + ] + }, + { + "gard_id": "GARD:0000108", + "name": "Adult polyglucosan body disease", + "synonyms": [ + "APBD", + "Polyglucosan body disease, adult form", + "Polyglucosan body neuropathy, adult form", + "APBN" + ] + }, + { + "gard_id": "GARD:0000109", + "name": "Progressive osseous heteroplasia", + "synonyms": [ + "POH", + "Familial ectopic ossification", + "Ectopic ossification familial type" + ] + }, + { + "gard_id": "GARD:0000111", + "name": "Recurrent respiratory papillomatosis", + "synonyms": [ + "RRP", + "Juvenile laryngeal papilloma", + "Laryngeal papilloma, recurrent", + "Juvenile-onset recurrent respiratory papillomatosis (type)", + "JORRP (type)", + "Adult-onset recurrent respiratory papillomatosis (type)", + "AORRP (type)", + "Respiratory papillomatosis, recurrent" + ] + }, + { + "gard_id": "GARD:0000112", + "name": "Respiratory distress syndrome, infant", + "synonyms": [ + "Hyaline membrane disease", + "Infantile respiratory distress syndrome", + "IRDS", + "NRDS", + "Neonatal respiratory distress syndrome", + "RDS - infants" + ] + }, + { + "gard_id": "GARD:0000113", + "name": "Retinopathy, arteriosclerotic", + "synonyms": [ + "Arteriosclerosis, retina" + ] + }, + { + "gard_id": "GARD:0000114", + "name": "X-linked Charcot-Marie-Tooth disease type 5", + "synonyms": [ + "Charcot-Marie-Tooth Neuropathy X Type 5", + "CMTX5", + "Rosenberg-Chutorian syndrome", + "Optic atrophy, polyneuropathy, and deafness", + "Optic atrophy, sensorineural hearing loss and polyneuropathy", + "Familial opticoacoustic nerve degeneration and polyneuropathy" + ] + }, + { + "gard_id": "GARD:0000116", + "name": "Schindler disease type 1", + "synonyms": [ + "Neuroaxonal dystrophy, Schindler type", + "Alpha-N-acetylgalactosaminidase deficiency, type 1", + "NAGA deficiency, type 1", + "Schindler disease type I" + ] + }, + { + "gard_id": "GARD:0000117", + "name": "Schinzel Giedion syndrome", + "synonyms": [ + "Schinzel Giedion midface-retraction syndrome", + "SGS", + "Schinzel-Giedion syndrome" + ] + }, + { + "gard_id": "GARD:0000118", + "name": "Ulnar-mammary syndrome", + "synonyms": [ + "UMS", + "Schinzel syndrome", + "Ulnar-mammary syndrome of Pallister" + ] + }, + { + "gard_id": "GARD:0000120", + "name": "Sennetsu Fever", + "synonyms": [ + "Human Ehrlichial infection, Sennetsu type" + ] + }, + { + "gard_id": "GARD:0000121", + "name": "Facial ectodermal dysplasia", + "synonyms": [ + "Setleis syndrome", + "Bitemporal forceps marks syndrome", + "Focal facial dermal dysplasia type 2", + "FFDD type 2" + ] + }, + { + "gard_id": "GARD:0000122", + "name": "Singleton-Merten syndrome", + "synonyms": [ + "Merten-Singleton syndrome", + "SM syndrome", + "Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness", + "Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", + "Singleton-Merten dysplasia" + ] + }, + { + "gard_id": "GARD:0000124", + "name": "Allain-Babin-Demarquez syndrome", + "synonyms": [ + "Acro cephalo synostosis", + "Craniosynostosis synostoses hypertensive nephropathy" + ] + }, + { + "gard_id": "GARD:0000125", + "name": "Acrokeratoelastoidosis of Costa", + "synonyms": [ + "Collagenous plaques of hand and feet", + "AKE", + "Palmoplantar keratoderma, punctate type 3" + ] + }, + { + "gard_id": "GARD:0000130", + "name": "Florid cystic endosalpingiosis of the uterus", + "synonyms": [ + "Cystic endosalpingiosis of the uterus" + ] + }, + { + "gard_id": "GARD:0000132", + "name": "Primary cutaneous amyloidosis", + "synonyms": [ + "Primary localized cutaneous amyloidosis", + "PLCA", + "Lichen amyloidosis familial", + "Amyloidosis familial cutaneous lichen", + "Amyloidosis 9", + "Amyloidosis IX" + ] + }, + { + "gard_id": "GARD:0000133", + "name": "Aganglionosis, total intestinal", + "synonyms": [ + "TIA", + "Rare form of Hirschsprung's disease", + "Aganglionosis, total colonic", + "Near-total intestinal aganglionosis", + "NTIA" + ] + }, + { + "gard_id": "GARD:0000134", + "name": "Spondyloepimetaphyseal dysplasia Strudwick type", + "synonyms": [ + "Dappled metaphysis syndrome", + "Strudwick syndrome", + "SMED Strudwick type", + "SMED type 1", + "SMD" + ] + }, + { + "gard_id": "GARD:0000136", + "name": "Dextrocardia with unusual facies and microphthalmia", + "synonyms": [ + "Aughton syndrome", + "Dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation" + ] + }, + { + "gard_id": "GARD:0000137", + "name": "Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia", + "synonyms": [ + "Aughton Sloan Milad syndrome" + ] + }, + { + "gard_id": "GARD:0000139", + "name": "Atrial myxoma, familial", + "synonyms": [ + "Intracardiac myxoma" + ] + }, + { + "gard_id": "GARD:0000140", + "name": "Atresia of small intestine", + "synonyms": [ + "Small intestine atresia", + "Congenital atresia of the small intestine", + "Small intestinal atresia" + ] + }, + { + "gard_id": "GARD:0000143", + "name": "Hairy elbows", + "synonyms": [ + "Hypertrichosis cubiti" + ] + }, + { + "gard_id": "GARD:0000144", + "name": "Mac Dermot Winter syndrome", + "synonyms": [ + "Prominent glabella microcephaly hypogenitalism", + "Macdermot-Winter syndrome" + ] + }, + { + "gard_id": "GARD:0000147", + "name": "Macrocephaly, benign familial", + "synonyms": [ + "Benign familial macrocephaly", + "Cole-Hughes syndrome", + "Benign familial megalencephaly" + ] + }, + { + "gard_id": "GARD:0000149", + "name": "Prostatic malacoplakia associated with prostatic abscess", + "synonyms": [ + "Prostatic malacoplakia with prostatic and seminal vesicle abscess" + ] + }, + { + "gard_id": "GARD:0000150", + "name": "Sammartino Decreccio syndrome", + "synonyms": [ + "Superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality" + ] + }, + { + "gard_id": "GARD:0000151", + "name": "Samson Gardner syndrome", + "synonyms": [ + "Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia" + ] + }, + { + "gard_id": "GARD:0000152", + "name": "Samson Viljoen syndrome", + "synonyms": [ + "Lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia" + ] + }, + { + "gard_id": "GARD:0000153", + "name": "Sanderson Fraser syndrome", + "synonyms": [ + "Proptosis, Robin association, clenched hands, and multiple abnormalities" + ] + }, + { + "gard_id": "GARD:0000154", + "name": "Sandhaus Ben-Ami syndrome", + "synonyms": [ + "Patella hypoplasia skeletal malformations" + ] + }, + { + "gard_id": "GARD:0000155", + "name": "Laurin-Sandrow syndrome", + "synonyms": [ + "Fibula ulna duplication tibia radius absence", + "Sandrow syndrome", + "Mirror hands and feet with nasal defects", + "Tetramelic mirror-image polydactyly", + "Laurin Sandrow syndrome" + ] + }, + { + "gard_id": "GARD:0000156", + "name": "Muscle eye brain disease", + "synonyms": [ + "MEB", + "Muscle-eye-brain disease", + "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" + ] + }, + { + "gard_id": "GARD:0000157", + "name": "Santos Mateus Leal syndrome", + "synonyms": [ + "Hirschsprung disease, deafness and polydactyly", + "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness" + ] + }, + { + "gard_id": "GARD:0000158", + "name": "Sarcosinemia", + "synonyms": [ + "Sarcosine dehydrogenase complex deficiency", + "SARD deficiency", + "Hypersarcosinemia", + "SARDH deficiency" + ] + }, + { + "gard_id": "GARD:0000159", + "name": "Scalp ear nipple syndrome", + "synonyms": [ + "Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples", + "Sen Syndrome", + "Finlay-Marks Syndrome", + "Scalp-ear-nipple syndrome" + ] + }, + { + "gard_id": "GARD:0000160", + "name": "Satoyoshi syndrome", + "synonyms": [ + "Komuragaeri Disease", + "Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities" + ] + }, + { + "gard_id": "GARD:0000161", + "name": "Saul Wilkes Stevenson syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0000162", + "name": "Say syndrome", + "synonyms": [ + "Cleft palate large ears small head", + "Cleft palate, microcephaly, large ears, and short stature", + "Say Barber Hobbs syndrome" + ] + }, + { + "gard_id": "GARD:0000166", + "name": "Schizencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0000169", + "name": "Schneckenbecken dysplasia", + "synonyms": [ + "Chondrodysplasia lethal neonatal with snail like pelvis" + ] + }, + { + "gard_id": "GARD:0000171", + "name": "Le Marec Bracq Picaud syndrome", + "synonyms": [ + "Complex malformation syndrome with brachymesomelia" + ] + }, + { + "gard_id": "GARD:0000172", + "name": "Macrocephaly-short stature-paraplegia syndrome", + "synonyms": [ + "Volcke Soekarman syndrome", + "Volcke-Soekarman syndrome" + ] + }, + { + "gard_id": "GARD:0000173", + "name": "Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance", + "synonyms": [ + "McAlister Coe Whyte syndrome", + "Macroepiphyseal dysplasia, McAlister Coe type" + ] + }, + { + "gard_id": "GARD:0000174", + "name": "Kuzniecky Andermann syndrome", + "synonyms": [ + "Macrogyria, pseudobulbar palsy and mental retardation" + ] + }, + { + "gard_id": "GARD:0000175", + "name": "Infantile free sialic acid storage disease", + "synonyms": [ + "Sialuria, infantile form", + "Infantile sialic acid storage disorder", + "ISSD" + ] + }, + { + "gard_id": "GARD:0000176", + "name": "Macrophagic myofasciitis", + "synonyms": [ + "MMF", + "Macrophagic myofasciitis, childhood" + ] + }, + { + "gard_id": "GARD:0000177", + "name": "Macrosomia with lethal microphthalmia", + "synonyms": [ + "Teebi Al-Saleh Hassoon syndrome", + "Macrosomia microphthalmia cleft palate" + ] + }, + { + "gard_id": "GARD:0000178", + "name": "MOMO syndrome", + "synonyms": [ + "Macrosomia, obesity, macrocephaly, ocular abnormalities", + "Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" + ] + }, + { + "gard_id": "GARD:0000179", + "name": "Macrothrombocytopenia progressive deafness", + "synonyms": [ + "Brodie Chole Griffin syndrome" + ] + }, + { + "gard_id": "GARD:0000180", + "name": "MYH9 related thrombocytopenia", + "synonyms": [ + "MYH9 related disorders", + "Sebastian syndrome (subtype)", + "May-Hegglin anomaly (subtype)", + "Fechtner syndrome (subtype)", + "Epstein syndrome (subtype)", + "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", + "MYH9-RD", + "MYH9-related disease", + "MYH9-related disorder", + "MYH9-related syndrome", + "MYH9-related syndromic thrombocytopenia" + ] + }, + { + "gard_id": "GARD:0000181", + "name": "Stargardt disease", + "synonyms": [ + "Stargardt macular dystrophy", + "Juvenile onset macular degeneration" + ] + }, + { + "gard_id": "GARD:0000182", + "name": "Best vitelliform macular dystrophy", + "synonyms": [ + "Best disease", + "Best macular dystrophy", + "Macular degeneration, polymorphic vitelline", + "Vitelliform macular dystrophy type 2", + "VMD2", + "BVMD", + "Early-onset vitelliform macular dystrophy", + "Juvenile-onset vitelliform macular dystrophy", + "Polymorphic vitelline macular degeneration" + ] + }, + { + "gard_id": "GARD:0000183", + "name": "Bubonic plague", + "synonyms": null + }, + { + "gard_id": "GARD:0000184", + "name": "Yellow nail syndrome", + "synonyms": [ + "Lymphedema with yellow nails", + "YNS" + ] + }, + { + "gard_id": "GARD:0000185", + "name": "Y chromosome infertility", + "synonyms": [ + "Male sterility due to Y-chromosome deletions", + "DAZ", + "Deleted in azoospermia", + "Y chromosome microdeletions" + ] + }, + { + "gard_id": "GARD:0000188", + "name": "N acetyltransferase deficiency", + "synonyms": [ + "N acetyltransferase 1 deficiency", + "NAT1 deficiency", + "Arylamine n-acetyltransferase 1", + "Acetyl-CoA:arylamine n-acetyltransferase" + ] + }, + { + "gard_id": "GARD:0000189", + "name": "Elliott Ludman Teebi syndrome", + "synonyms": [ + "Multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs" + ] + }, + { + "gard_id": "GARD:0000191", + "name": "Kashani Strom Utley syndrome", + "synonyms": [ + "Pulmonary aortic stenosis obstructive uropathy", + "Hypoplastic pulmonary arteries and aorta with obstructive uropathy" + ] + }, + { + "gard_id": "GARD:0000192", + "name": "Karandikar Maria Kamble syndrome", + "synonyms": [ + "Cataract mental retardation anal atresia urinary defects", + "Congenital cataract with multiple congenital anomalies in a sibship" + ] + }, + { + "gard_id": "GARD:0000193", + "name": "Opitz G/BBB syndrome", + "synonyms": [ + "Hypospadias-dysphagia, syndrome", + "Opitz-Frias syndrome", + "G syndrome", + "Opitz-G syndrome, type 2", + "Hypertelorism hypospadias syndrome", + "Hypertelorism with esophageal abnormality and hypospadias", + "BBB syndrome", + "Telecanthus with associated abnormalities", + "Opitz BBBG syndrome", + "GBBB syndrome" + ] + }, + { + "gard_id": "GARD:0000194", + "name": "Gamma aminobutyric acid transaminase deficiency", + "synonyms": [ + "GABA transaminase deficiency", + "Gamma aminobutyrate transaminase deficiency", + "GABAT", + "4 alpha aminobutyrate transaminase deficiency", + "ABAT" + ] + }, + { + "gard_id": "GARD:0000195", + "name": "Hyperkalemic periodic paralysis", + "synonyms": [ + "HYPP", + "Gamstorp disease", + "Gamstorp episodic adynamy", + "Adynamia episodica hereditaria with or without myotonia", + "Sodium channel muscle disease" + ] + }, + { + "gard_id": "GARD:0000196", + "name": "St Anthony's fire", + "synonyms": [ + "Ergotism" + ] + }, + { + "gard_id": "GARD:0000198", + "name": "Spinal muscular atrophy type 3", + "synonyms": [ + "SMA3", + "Muscular atrophy, juvenile", + "SMA 3", + "Kugelberg-Welander syndrome", + "KWS", + "Spinal muscular atrophy, mild childhood and adolescent form" + ] + }, + { + "gard_id": "GARD:0000199", + "name": "Cardiac hydatid cysts with intracavitary expansion", + "synonyms": [ + "Cardiac hydatidosis" + ] + }, + { + "gard_id": "GARD:0000200", + "name": "Central serous chorioretinopathy", + "synonyms": [ + "Central serous chorioretinopathy after bone marrow transplantation", + "Central serous choroidopathy" + ] + }, + { + "gard_id": "GARD:0000201", + "name": "Ascher Syndrome", + "synonyms": [ + "Double upper lip, blepharochalasis and enlargement of the thyroid", + "Ascher's syndrome", + "Blepharochalasis - double lip", + "Blepharochalasis and double lip", + "Blepharochalasis-double lip syndrome" + ] + }, + { + "gard_id": "GARD:0000203", + "name": "Crohn's disease of the esophagus", + "synonyms": null + }, + { + "gard_id": "GARD:0000204", + "name": "Dieterich's disease", + "synonyms": [ + "Avascular necrosis of the metacarpal head", + "Dieterich disease" + ] + }, + { + "gard_id": "GARD:0000206", + "name": "Nephronophthisis", + "synonyms": null + }, + { + "gard_id": "GARD:0000207", + "name": "Alveolar echinococcosis", + "synonyms": [ + "Echinococcosis" + ] + }, + { + "gard_id": "GARD:0000208", + "name": "Giant mammary hamartoma", + "synonyms": [ + "Giant hamartoma of the breast" + ] + }, + { + "gard_id": "GARD:0000210", + "name": "Ruzicka Goerz Anton syndrome", + "synonyms": [ + "Ichthyosis deafness mental retardation skeletal anomalies", + "Ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma" + ] + }, + { + "gard_id": "GARD:0000212", + "name": "Rutherfurd syndrome", + "synonyms": [ + "Gingival hypertrophy corneal dystrophy", + "Corneal dystrophy with gum hypertrophy" + ] + }, + { + "gard_id": "GARD:0000213", + "name": "Axial mesodermal dysplasia spectrum", + "synonyms": [ + "Russell Weaver Bull syndrome" + ] + }, + { + "gard_id": "GARD:0000215", + "name": "Familial caudal dysgenesis", + "synonyms": [ + "Caudal dysgenesis familial type", + "Rudd-Klimek syndrome" + ] + }, + { + "gard_id": "GARD:0000216", + "name": "Rozin Hertz Goodman syndrome", + "synonyms": [ + "Camptodactyly, joint contractures, facial skeletal defects", + "Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" + ] + }, + { + "gard_id": "GARD:0000217", + "name": "Roy Maroteaux Kremp syndrome", + "synonyms": [ + "Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia" + ] + }, + { + "gard_id": "GARD:0000218", + "name": "Rotor syndrome", + "synonyms": [ + "Hyperbilirubinemia, Rotor type", + "Rotor-type hyperbilirubinemia" + ] + }, + { + "gard_id": "GARD:0000219", + "name": "Congenital giant megaureter", + "synonyms": [ + "CGM" + ] + }, + { + "gard_id": "GARD:0000220", + "name": "Peripartum cardiomyopathy", + "synonyms": [ + "Postpartum cardiomyopathy", + "Meadows' syndrome" + ] + }, + { + "gard_id": "GARD:0000221", + "name": "Dilated cardiomyopathy", + "synonyms": [ + "DCM", + "Idiopathic dilated cardiomyopathy" + ] + }, + { + "gard_id": "GARD:0000223", + "name": "Acoustic neuroma", + "synonyms": [ + "Acoustic neurilemoma", + "Acoustic neurinoma", + "Cerebellopontine angle tumor", + "Vestibular schwannoma", + "Neurinoma of the acoustic nerve", + "Acoustic tumor" + ] + }, + { + "gard_id": "GARD:0000224", + "name": "Radio renal syndrome", + "synonyms": [ + "Radio-renal syndrome" + ] + }, + { + "gard_id": "GARD:0000225", + "name": "Radial ray agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0000226", + "name": "Rabson-Mendenhall syndrome", + "synonyms": [ + "Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities", + "Mendenhall Syndrome", + "INSR-related severe syndromic insulin resistance" + ] + }, + { + "gard_id": "GARD:0000229", + "name": "Gomez Lopez Hernandez syndrome", + "synonyms": [ + "Cerebellotrigeminal-dermal dysplasia", + "Cerebellotrigeminal dermal dysplasia", + "Gomez-Lopez-Hernández syndrome", + "Cerebellotrigeminal-dermal dysplasia syndrome", + "Craniosynostosis-alopecia-brain defect syndrome" + ] + }, + { + "gard_id": "GARD:0000230", + "name": "Microcephaly deafness syndrome", + "synonyms": [ + "Kawashima tsuji syndrome", + "Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" + ] + }, + { + "gard_id": "GARD:0000231", + "name": "Leukoencephalopathy with vanishing white matter", + "synonyms": [ + "Childhood ataxia with diffuse central nervous system hypomyelination", + "CACH syndrome", + "CACH/VWM syndrome", + "Myelinosis centralis diffusa", + "Cree leukoencehalopathy", + "Childhood ataxia with central nervous system hypomyelination/vanishing white matter", + "CACH/VWM", + "Vanishing white matter leukodystrophy", + "Vanishing white matter disease" + ] + }, + { + "gard_id": "GARD:0000232", + "name": "Medullary sponge kidney", + "synonyms": [ + "Cacchi Ricci disease", + "Precalyceal canalicular ectasia", + "Cacchi-Ricci syndrome", + "Sponge kidney", + "Cystic dilatation of renal collecting tubes", + "Cacchi-Ricci disease", + "MSK", + "Precalicial canalicular ectasia" + ] + }, + { + "gard_id": "GARD:0000233", + "name": "D ercole syndrome", + "synonyms": [ + "Short stature microcephaly heart defect" + ] + }, + { + "gard_id": "GARD:0000234", + "name": "D-glycericacidemia", + "synonyms": [ + "D-Glycerate kinase deficiency", + "Non ketotic hyperglycinemia syndrome" + ] + }, + { + "gard_id": "GARD:0000236", + "name": "Daentl Towsend Siegel syndrome", + "synonyms": [ + "Hydrocephalus blue sclera nephropathy", + "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome" + ] + }, + { + "gard_id": "GARD:0000237", + "name": "Dahlberg Borer Newcomer syndrome", + "synonyms": [ + "Lymphedema hypoparathyroidism syndrome", + "Hypoparathyroidism lymphedema syndrome" + ] + }, + { + "gard_id": "GARD:0000238", + "name": "Odontoma dysphagia syndrome", + "synonyms": [ + "Odontomatosis (multiple odontomas) with dysphagia", + "Boder syndrome" + ] + }, + { + "gard_id": "GARD:0000239", + "name": "Say Barber Miller syndrome", + "synonyms": [ + "Microcephaly hypogammaglobulinemia abnormal immunity", + "Microcephaly with chemotactic defect and transient hypogammaglobulinemia" + ] + }, + { + "gard_id": "GARD:0000240", + "name": "Say Carpenter syndrome", + "synonyms": [ + "Metaphyseal dysplasia hypertelorism hypospadias" + ] + }, + { + "gard_id": "GARD:0000241", + "name": "Scalp defects postaxial polydactyly", + "synonyms": [ + "Congenital scalp defects associated with postaxial polydactyly" + ] + }, + { + "gard_id": "GARD:0000242", + "name": "Say-Field-Coldwell syndrome", + "synonyms": [ + "Triphalangeal thumbs and dislocation of patella", + "Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence" + ] + }, + { + "gard_id": "GARD:0000243", + "name": "Say Meyer syndrome", + "synonyms": [ + "Trigonocephaly, short stature, and retarded psychomotor development", + "Say-Meyer syndrome", + "Trigonocephaly-short stature-developmental delay syndrome" + ] + }, + { + "gard_id": "GARD:0000246", + "name": "Schisis association", + "synonyms": [ + "Midline development field defects" + ] + }, + { + "gard_id": "GARD:0000247", + "name": "SCARF syndrome", + "synonyms": [ + "Skeletal abnormalities, Cutis laxa, craniostenosis, Ambiguous genitalia, Retardation, and Facial abnormalities" + ] + }, + { + "gard_id": "GARD:0000248", + "name": "Schaap Taylor Baraitser syndrome", + "synonyms": [ + "Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature" + ] + }, + { + "gard_id": "GARD:0000249", + "name": "Schaefer Stein Oshman syndrome", + "synonyms": [ + "Dominantly inherited craniodiaphyseal dysplasia", + "Craniodiaphyseal dysplasia, dominant" + ] + }, + { + "gard_id": "GARD:0000250", + "name": "Schwartz Jampel syndrome", + "synonyms": [ + "Schwartz Jampel Aberfeld syndrome", + "Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", + "SJA syndrome", + "Chondrodystrophic myotonia", + "Myotonic chondrodystrophy", + "Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies", + "Aberfeld syndrome", + "Burton skeletal dysplasia", + "Burton syndrome", + "Catel-Hempel syndrome", + "Dysostosis enchondralis metaepiphysaria, Catel-Hempel type", + "Osteochondromuscular dystrophy", + "Schwartz-Jampel syndrome", + "Schwartz-Jampel-Aberfeld syndrome", + "SJS", + "SJS1" + ] + }, + { + "gard_id": "GARD:0000253", + "name": "Schwartz Cohen-Addad Lambert syndrome", + "synonyms": [ + "Congenital melanocytosis with myelomeningocele and hydrocephalus" + ] + }, + { + "gard_id": "GARD:0000255", + "name": "Schlegelberger Grote syndrome", + "synonyms": [ + "Triphalangeal thumbs thrombocytopathy deafness", + "Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear" + ] + }, + { + "gard_id": "GARD:0000256", + "name": "Schrander-Stumpel Theunissen Hulsmans syndrome", + "synonyms": [ + "Vitiligo, psychomotor retardation, cleft palate and facial dysmorphism", + "Vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism" + ] + }, + { + "gard_id": "GARD:0000257", + "name": "Scholte syndrome", + "synonyms": [ + "Early balding, patella luxation, acromicria and hypogonadism" + ] + }, + { + "gard_id": "GARD:0000259", + "name": "Diabetes insipidus nephrogenic mental retardation and intracerebral calcification", + "synonyms": [ + "Schofer Beetz Bohl syndrome" + ] + }, + { + "gard_id": "GARD:0000262", + "name": "Neuropathy ataxia retinitis pigmentosa syndrome", + "synonyms": [ + "NARP syndrome", + "NARP" + ] + }, + { + "gard_id": "GARD:0000264", + "name": "Lowry Wood syndrome", + "synonyms": [ + "Epiphyseal dysplasia, microcephaly and nystagmus", + "LWS" + ] + }, + { + "gard_id": "GARD:0000265", + "name": "Trichodental syndrome", + "synonyms": [ + "Trichodental dysplasia", + "Tricho-dental syndrome", + "Tricho-dental dysplasia" + ] + }, + { + "gard_id": "GARD:0000267", + "name": "Nasodigitoacoustic syndrome", + "synonyms": [ + "Keipert Syndrome" + ] + }, + { + "gard_id": "GARD:0000269", + "name": "IVIC syndrome", + "synonyms": [ + "Instituto Venezolano de Investigaciones Cientificas syndrome", + "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia", + "Oculootoradial syndrome", + "OORS" + ] + }, + { + "gard_id": "GARD:0000270", + "name": "Nicolaides-Baraitser syndrome", + "synonyms": [ + "Sparse hair and mental retardation", + "NCBRS" + ] + }, + { + "gard_id": "GARD:0000271", + "name": "Vagneur Triolle Ripert syndrome", + "synonyms": [ + "Hypertelorism, short midface, arachnodactyly, coloboma of Iris and delayed bone age" + ] + }, + { + "gard_id": "GARD:0000272", + "name": "VACTERL hydrocephaly", + "synonyms": [ + "Vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) anomalies and hydrocephaly", + "VACTERL association with hydrocephaly" + ] + }, + { + "gard_id": "GARD:0000273", + "name": "Wrinkly skin syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0000274", + "name": "Woods Black Norbury syndrome", + "synonyms": [ + "Neonatal death immune deficiency", + "X-linked immunoneurological disorder" + ] + }, + { + "gard_id": "GARD:0000276", + "name": "Eunuchoidism familial hypogonadotropic", + "synonyms": [ + "Gonadotropin deficiency familial idiopathic", + "FIGD", + "Familial hypogonadotropic eunuchoidism" + ] + }, + { + "gard_id": "GARD:0000277", + "name": "Pilodental dysplasia with refractive errors", + "synonyms": [ + "Trichodental dysplasia with hyperopia" + ] + }, + { + "gard_id": "GARD:0000279", + "name": "Hemorrhagic proctocolitis", + "synonyms": [ + "Haemorrhagic proctocolitis" + ] + }, + { + "gard_id": "GARD:0000280", + "name": "Halal Setton Wang syndrome", + "synonyms": [ + "Hidrotic ectodermal dysplasia Halal type" + ] + }, + { + "gard_id": "GARD:0000282", + "name": "Raine syndrome", + "synonyms": [ + "Lethal osteosclerotic bone dysplasia", + "Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" + ] + }, + { + "gard_id": "GARD:0000284", + "name": "Irons Bhan syndrome", + "synonyms": [ + "Lymphedema, atrial septal defect, and characteristic facial changes", + "Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" + ] + }, + { + "gard_id": "GARD:0000287", + "name": "Naguib-Richieri-Costa syndrome", + "synonyms": [ + "Hypertelorism hypospadias polysyndactyly syndrome", + "Acrofrontofacionasal dysostosis, severe", + "AFFN dysostosis 2", + "Naguib syndrome" + ] + }, + { + "gard_id": "GARD:0000288", + "name": "Hallermann-Streiff syndrome", + "synonyms": [ + "Hallermann Streiff syndrome", + "HSS", + "Hallermann Streiff Francois syndrome", + "Francois dyscephalic syndrome", + "François dyscephalic syndrome", + "Oculomandibulofacial syndrome" + ] + }, + { + "gard_id": "GARD:0000291", + "name": "Spasticity multiple exostoses", + "synonyms": [ + "Hamann Zanki schimrigk syndrome", + "Multiple exostoses with spastic tetraparesis" + ] + }, + { + "gard_id": "GARD:0000292", + "name": "Ichthyosis alopecia eclabion ectropion mental retardation", + "synonyms": [ + "Jagell Holmgren Hofer syndrome" + ] + }, + { + "gard_id": "GARD:0000293", + "name": "Rodrigues blindness", + "synonyms": [ + "Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" + ] + }, + { + "gard_id": "GARD:0000294", + "name": "Enchondromatosis dwarfism deafness", + "synonyms": [ + "Wallis cremin beighton syndrome" + ] + }, + { + "gard_id": "GARD:0000296", + "name": "Lopes Gorlin syndrome", + "synonyms": [ + "Short tarsus absence of lower eyelashes" + ] + }, + { + "gard_id": "GARD:0000298", + "name": "Lubinsky syndrome", + "synonyms": [ + "Hypogonadism cataract syndrome", + "Cataracts and testicular failure" + ] + }, + { + "gard_id": "GARD:0000299", + "name": "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome", + "synonyms": [ + "Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" + ] + }, + { + "gard_id": "GARD:0000301", + "name": "Generalized resistance to thyroid hormone", + "synonyms": [ + "GRTH", + "Thyroid hormone receptor BETA", + "THRB", + "Refetoff syndrome" + ] + }, + { + "gard_id": "GARD:0000302", + "name": "Severe congenital neutropenia autosomal recessive 3", + "synonyms": [ + "SCN3", + "Kostmann disease", + "Agranulocytosis infantile" + ] + }, + { + "gard_id": "GARD:0000303", + "name": "Jeune syndrome situs inversus", + "synonyms": null + }, + { + "gard_id": "GARD:0000304", + "name": "Blau syndrome", + "synonyms": [ + "Arthrocutaneouveal granulomatosis", + "ACUG", + "Granulomatosis, familial, Blau type", + "Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial", + "Synovitis granulomatous with uveitis and cranial neuropathies", + "Granulomatosis, familial juvenile systemic", + "Jabs syndrome", + "Early onset sarcoidosis (former)" + ] + }, + { + "gard_id": "GARD:0000305", + "name": "Deafness conductive ptosis skeletal anomalies", + "synonyms": [ + "Jackson Barr syndrome" + ] + }, + { + "gard_id": "GARD:0000306", + "name": "Camptodactyly arthropathy coxa vara pericarditis syndrome", + "synonyms": [ + "Arthropathy camptodactyly syndrome", + "Pericarditis arthropathy camptodactyly syndrome", + "PAC syndrome", + "Fibrosing serositis, familial", + "Camptodactyly arthropathy pericarditis syndrome", + "Congenital familial hypertrophic synovitis", + "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome", + "Arthropathy-camptodactyly syndrome", + "CACP syndrome", + "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome", + "Jacobs syndrome", + "Pericarditis-arthropathy-camptodactyly syndrome" + ] + }, + { + "gard_id": "GARD:0000307", + "name": "Jacobsen syndrome", + "synonyms": [ + "JBS", + "Chromosome 11q deletion syndrome", + "Partial 11q monosomy syndrome" + ] + }, + { + "gard_id": "GARD:0000309", + "name": "Fibromatosis multiple non ossifying", + "synonyms": [ + "Jaffe Campanacci syndrome", + "Disseminated nonossifying fibromas in association with cafe-au-lait spots" + ] + }, + { + "gard_id": "GARD:0000310", + "name": "Zunich neuroectodermal syndrome", + "synonyms": [ + "CHIME syndrome" + ] + }, + { + "gard_id": "GARD:0000311", + "name": "Saal Bulas syndrome", + "synonyms": [ + "Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum" + ] + }, + { + "gard_id": "GARD:0000312", + "name": "Robinow syndrome", + "synonyms": [ + "Robinow dwarfism", + "Fetal face syndrome", + "Acral dysostosis with facial and genital abnormalities", + "Covesdem syndrome (formerly)", + "Costovertebral segmentation defect with mesomelia (formerly)", + "Mesomelic dwarfism-small genitalia syndrome", + "Robinow-Silverman-Smith syndrome" + ] + }, + { + "gard_id": "GARD:0000313", + "name": "Sabinas brittle hair syndrome", + "synonyms": [ + "Brittle hair and mental deficit", + "Sabinas syndrome" + ] + }, + { + "gard_id": "GARD:0000314", + "name": "Saccharopinuria", + "synonyms": [ + "Saccharopine dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0000315", + "name": "Sackey Sakati Aur syndrome", + "synonyms": [ + "Aur syndrome", + "Pancytopenia multiple congenital anomalies", + "Multiple dysmorphic features and pancytopenia" + ] + }, + { + "gard_id": "GARD:0000317", + "name": "Sacral hemangiomas multiple congenital abnormalities", + "synonyms": null + }, + { + "gard_id": "GARD:0000319", + "name": "Sacrococcygeal Teratoma", + "synonyms": null + }, + { + "gard_id": "GARD:0000320", + "name": "Saito Kuba Tsuruta syndrome", + "synonyms": [ + "Fibulo ulnar hypoplasia renal anomalies", + "Fibuloulnar aplasia or hypoplasia with renal abnormalities" + ] + }, + { + "gard_id": "GARD:0000321", + "name": "Salcedo syndrome", + "synonyms": [ + "Nail patella like renal disease", + "Glomerular basement membrane disease, nail-patella syndrome type" + ] + }, + { + "gard_id": "GARD:0000322", + "name": "Senior Loken Syndrome", + "synonyms": [ + "Senior-Loken Syndrome", + "Renal dysplasia retinal aplasia", + "Renal-retinal syndrome", + "Juvenile nephronophthisis with Leber amaurosis", + "Loken-Senior syndrome" + ] + }, + { + "gard_id": "GARD:0000324", + "name": "Slti Salem syndrome", + "synonyms": [ + "Hypogonadotropic hypogonadism alopecia", + "Hypogonadism and frontoparietal alopecia" + ] + }, + { + "gard_id": "GARD:0000325", + "name": "Twin to twin transfusion syndrome", + "synonyms": [ + "TTTS", + "Twin-to-twin transfusion syndrome", + "Fetofetal transfusion syndrome", + "Fetal transfusion syndrome" + ] + }, + { + "gard_id": "GARD:0000328", + "name": "Wandering spleen", + "synonyms": [ + "Displaced spleen", + "Drifting spleen", + "Splenoptosis", + "Floating spleen", + "Splenic ptosis" + ] + }, + { + "gard_id": "GARD:0000329", + "name": "Wells syndrome", + "synonyms": [ + "Eosinophilic cellulitis", + "Bullous cellulitis with eosinophilia", + "Wells' syndrome" + ] + }, + { + "gard_id": "GARD:0000330", + "name": "Neonatal progeroid syndrome", + "synonyms": [ + "Wiedemann-Rautenstrauch syndrome", + "Progeroid syndrome neonatal", + "Wiedemann Rautenstrauch syndrome" + ] + }, + { + "gard_id": "GARD:0000331", + "name": "Yunis-Varon syndrome", + "synonyms": [ + "Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia", + "Yunis-Varón syndrome", + "Yunis Varon syndrome" + ] + }, + { + "gard_id": "GARD:0000332", + "name": "Beare-Stevenson cutis gyrata syndrome", + "synonyms": [ + "Cutis Gyrata syndrome of Beare and Stevenson", + "Beare stevenson syndrome", + "Cutis gyrata - acanthosis nigricans - craniosynostosis", + "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" + ] + }, + { + "gard_id": "GARD:0000333", + "name": "Lymphedema-distichiasis syndrome", + "synonyms": [ + "Lymphedema with distichiasis", + "Hereditary lymphedema-distichiasis syndrome (subtype)" + ] + }, + { + "gard_id": "GARD:0000334", + "name": "Dyschromatosis symmetrica hereditaria 1", + "synonyms": [ + "Dyschromatosis symmetrica hereditaria", + "DSH1", + "DSH", + "Familial reticulate acropigmentation of Dohi", + "Reticulate acropigmentation of Dohi", + "Symmetric dyschromatosis of the extremities" + ] + }, + { + "gard_id": "GARD:0000336", + "name": "Spastic paraplegia 23", + "synonyms": [ + "SPG 23", + "Spastic paraplegia and pigmentary abnormalities", + "Spastic paraplegia vitiligo premature graying and characteristic facies", + "Lison syndrome", + "Autosomal recessive spastic paraplegia type 23" + ] + }, + { + "gard_id": "GARD:0000338", + "name": "Zerres Rietschel Majewski syndrome", + "synonyms": [ + "Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation" + ] + }, + { + "gard_id": "GARD:0000339", + "name": "Zazam Sheriff Phillips syndrome", + "synonyms": [ + "Aniridia, ectopia lentis, abnormal upper incisors and mental retardation" + ] + }, + { + "gard_id": "GARD:0000340", + "name": "Zadik Barak Levin syndrome", + "synonyms": [ + "Dermoid cysts, hypothyroidism, cleft palate and hypodontia" + ] + }, + { + "gard_id": "GARD:0000341", + "name": "Young syndrome", + "synonyms": [ + "Azoospermia obstructive and chronic sinopulmonary infections", + "Sinusitis-infertility syndrome", + "Barry Perkins Young syndrome", + "Azoospermia-sinopulmonary infections syndrome" + ] + }, + { + "gard_id": "GARD:0000343", + "name": "Pontocerebellar hypoplasia type 4", + "synonyms": [ + "Encephalopathy fatal infantile with olivopontocerebellar hypoplasia" + ] + }, + { + "gard_id": "GARD:0000344", + "name": "Pseudotrisomy 13 syndrome", + "synonyms": [ + "Holoprosencephaly polydactyly syndrome", + "Pseudo trisomy 13 syndrome", + "Young-Maders syndrome" + ] + }, + { + "gard_id": "GARD:0000345", + "name": "X-linked intellectual disability - short stature – obesity", + "synonyms": [ + "Sex-linked mental retardation, short stature, obesity and hypogonadism" + ] + }, + { + "gard_id": "GARD:0000346", + "name": "Hoyeraal Hreidarsson syndrome", + "synonyms": [ + "Cerebellar hypoplasia with pancytopenia", + "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia", + "Hoyeraal-Hreidarsson syndrome", + "Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome" + ] + }, + { + "gard_id": "GARD:0000347", + "name": "Yorifuji Okuno syndrome", + "synonyms": [ + "Congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease", + "Hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease" + ] + }, + { + "gard_id": "GARD:0000348", + "name": "Testicular yolk sac tumor", + "synonyms": [ + "Endodermal-sinus tumor", + "Orchidoblastoma" + ] + }, + { + "gard_id": "GARD:0000349", + "name": "Neuroaxonal dystrophy renal tubular acidosis", + "synonyms": [ + "Maccario Mena Weir syndrome", + "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" + ] + }, + { + "gard_id": "GARD:0000350", + "name": "Gurrieri syndrome", + "synonyms": [ + "Mental retardation, epilepsy, short stature and skeletal dysplasia", + "Gurrieri-Sammito-Bellussi syndrome" + ] + }, + { + "gard_id": "GARD:0000351", + "name": "Osteopoikilosis and dacryocystitis", + "synonyms": [ + "Dacryocystitis osteopoikilosis", + "Gunal Seber Basaran syndrome" + ] + }, + { + "gard_id": "GARD:0000352", + "name": "Guizar Vasquez Sanchez Manzano syndrome", + "synonyms": [ + "Dysmorphism-pectus carinatum-joint laxity syndrome", + "Guízar Vázquez-Sánchez-Manzano syndrome" + ] + }, + { + "gard_id": "GARD:0000353", + "name": "Kozlowski Warren Fisher syndrome", + "synonyms": [ + "Cloverleaf skull generalised bone dysplasia" + ] + }, + { + "gard_id": "GARD:0000354", + "name": "Osteopenia and sparse hair", + "synonyms": [ + "Osteopenia mental retardation sparse hair", + "Kaler Garrity Stern syndrome" + ] + }, + { + "gard_id": "GARD:0000358", + "name": "Pallister W syndrome", + "synonyms": [ + "W syndrome", + "Median cleft upper lip, mental retardation and pugilistic facies" + ] + }, + { + "gard_id": "GARD:0000359", + "name": "Cranioectodermal dysplasia", + "synonyms": [ + "Levin syndrome 1", + "Sensenbrenner syndrome" + ] + }, + { + "gard_id": "GARD:0000360", + "name": "Abruzzo-Erickson syndrome", + "synonyms": [ + "CHARGE like syndrome X-linked" + ] + }, + { + "gard_id": "GARD:0000361", + "name": "Acalvaria", + "synonyms": [ + "Primary acalvaria" + ] + }, + { + "gard_id": "GARD:0000362", + "name": "Alpha-thalassemia-abnormal morphogenesis", + "synonyms": [ + "Abuelo Forman Rubin syndrome", + "Homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects" + ] + }, + { + "gard_id": "GARD:0000363", + "name": "Acatalasemia", + "synonyms": [ + "Catalase deficiency", + "Acatalasia" + ] + }, + { + "gard_id": "GARD:0000364", + "name": "Arrhinia", + "synonyms": [ + "Congenital absence of the nose", + "Nose agenesia" + ] + }, + { + "gard_id": "GARD:0000365", + "name": "Aromatase deficiency", + "synonyms": [ + "Congenital estrogen deficiency" + ] + }, + { + "gard_id": "GARD:0000366", + "name": "Arnold Stickler Bourne syndrome", + "synonyms": [ + "Corneal crystals myopathy and neuropathy" + ] + }, + { + "gard_id": "GARD:0000368", + "name": "Laryngoonychocutaneous syndrome", + "synonyms": [ + "LOCS", + "Logic syndrome", + "Laryngo-onycho-cutaneous syndrome" + ] + }, + { + "gard_id": "GARD:0000369", + "name": "Ayazi syndrome", + "synonyms": [ + "Choroideremia deafness obesity", + "Choroideremia, obesity, and congenital deafness" + ] + }, + { + "gard_id": "GARD:0000370", + "name": "Aagenaes syndrome", + "synonyms": [ + "Cholestasis lymphedema syndrome", + "CHLS", + "LCS", + "LCS1", + "Lymphedema cholestasis syndrome" + ] + }, + { + "gard_id": "GARD:0000371", + "name": "Qazi Markouizos syndrome", + "synonyms": [ + "Dysharmonic skeletal maturation muscular fibre disproportion", + "Hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion", + "Puertorican infant hypotonia syndrome" + ] + }, + { + "gard_id": "GARD:0000372", + "name": "Neurofibromatosis-Noonan syndrome", + "synonyms": [ + "NFNS", + "Noonan neurofibromatosis syndrome", + "Neurofibromatosis with Noonan phenotype" + ] + }, + { + "gard_id": "GARD:0000373", + "name": "Quinquaud folliculitis decalvans", + "synonyms": [ + "Quinquaud’s disease", + "Folliculitis decalvans" + ] + }, + { + "gard_id": "GARD:0000374", + "name": "Zori Stalker Williams syndrome", + "synonyms": [ + "Pectus excavatum, macrocephaly and dysplastic nails", + "Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails" + ] + }, + { + "gard_id": "GARD:0000375", + "name": "Zlotogora syndrome", + "synonyms": [ + "Cleft lip/palate-ectodermal dysplasia syndrome", + "Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly", + "Zlotogora-Ogur syndrome", + "CLPED1", + "Cleft lip/palate-syndactyly-pili torti", + "Syndactyly-ectodermal dysplasia-cleft/lip palate", + "Zlotogora-Zilberman-Tenenbaum syndrome", + "Cleft lip/palate-syndactyly-pili torti syndrome" + ] + }, + { + "gard_id": "GARD:0000376", + "name": "Acheiropody", + "synonyms": [ + "Acheiropodia", + "ACHP", + "Acheiropody, Brazilian type" + ] + }, + { + "gard_id": "GARD:0000377", + "name": "Adactylia unilateral", + "synonyms": [ + "Terminal transverse defects of hand, unilateral" + ] + }, + { + "gard_id": "GARD:0000378", + "name": "Johnson neuroectodermal syndrome", + "synonyms": [ + "Johnson-Mcmillin syndrome", + "Alopecia anosmia deafness hypogonadism syndrome", + "AADH syndrome" + ] + }, + { + "gard_id": "GARD:0000379", + "name": "Renal tubular dysgenesis", + "synonyms": [ + "RTD", + "Primitive renal tubule syndrome" + ] + }, + { + "gard_id": "GARD:0000380", + "name": "Knobloch syndrome", + "synonyms": [ + "Myopia retinal detachment encephalocele", + "Retinal detachment-occipital encephalocele syndrome", + "Knobloch-Layer syndrome" + ] + }, + { + "gard_id": "GARD:0000381", + "name": "Kosztolanyi syndrome", + "synonyms": [ + "Arachnodactyly, abnormal ossification and mental retardation" + ] + }, + { + "gard_id": "GARD:0000383", + "name": "Osteopetrosis autosomal dominant type 2", + "synonyms": [ + "OPTA2", + "Autosomal dominant osteopetrosis type 2", + "Albers-Schönberg osteopetrosis" + ] + }, + { + "gard_id": "GARD:0000384", + "name": "ADULT syndrome", + "synonyms": [ + "Acro-dermato-ungual-lacrimal-tooth syndrome", + "Acro dermato ungual lacrimal tooth syndrome" + ] + }, + { + "gard_id": "GARD:0000385", + "name": "Laband syndrome", + "synonyms": [ + "Zimmerman Laband syndrome", + "ZLS", + "Gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly", + "Fibromatosis gingival, hepatosplenomegaly other anomalies" + ] + }, + { + "gard_id": "GARD:0000386", + "name": "Tetraamelia-multiple malformations syndrome", + "synonyms": [ + "Zimmer Taub Sova syndrome", + "Zimmer phocomelia" + ] + }, + { + "gard_id": "GARD:0000387", + "name": "ZAP-70 deficiency", + "synonyms": [ + "Zeta-associated-protein 70 deficiency", + "Severe combined immunodeficiency due to ZAP70 deficiency" + ] + }, + { + "gard_id": "GARD:0000390", + "name": "Worth type autosomal dominant osteosclerosis", + "synonyms": [ + "Osteosclerosis, autosomal dominant", + "Endosteal hyperostosis, autosomal dominant", + "Osteosclerosis, autosomal dominant, Worth type", + "Worth syndrome", + "Endosteal hyperostosis, Worth type", + "Autosomal dominant osteosclerosis, Worth type", + "Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" + ] + }, + { + "gard_id": "GARD:0000391", + "name": "Osteomesopyknosis", + "synonyms": [ + "Axial osteosclerosis" + ] + }, + { + "gard_id": "GARD:0000393", + "name": "Tungiasis", + "synonyms": [ + "Tunga penetrans", + "T penetrans", + "Sarcopsylla penetrans", + "S penetrans", + "Chigger flea" + ] + }, + { + "gard_id": "GARD:0000394", + "name": "Radioulnar synostosis-microcephaly-scoliosis syndrome", + "synonyms": [ + "Tsukahara syndrome", + "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation", + "Giuffré-Tsukahara syndrome" + ] + }, + { + "gard_id": "GARD:0000395", + "name": "Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma", + "synonyms": [ + "Retinal degeneration, nanophthalmos, glaucoma", + "MacKay Shek Carr syndrome" + ] + }, + { + "gard_id": "GARD:0000396", + "name": "Tularemia", + "synonyms": [ + "Francisella tularensis infection", + "Deerfly fever", + "Rabbit fever", + "Pahvant Valley plague", + "Ohara disease", + "Yatobyo (Japan)", + "Lemming fever" + ] + }, + { + "gard_id": "GARD:0000398", + "name": "Bagatelle Cassidy syndrome", + "synonyms": [ + "Macrocephaly short limbs deafness", + "Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay" + ] + }, + { + "gard_id": "GARD:0000399", + "name": "46,XX testicular disorder of sex development", + "synonyms": [ + "46,XX testicular DSD", + "46,XX gonadal dysgenesis", + "XX male syndrome", + "46, XX gonadal sex reversal", + "XX sex reversal" + ] + }, + { + "gard_id": "GARD:0000400", + "name": "GAPO syndrome", + "synonyms": [ + "Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy" + ] + }, + { + "gard_id": "GARD:0000404", + "name": "Osteoporosis oculocutaneous hypopigmentation syndrome", + "synonyms": [ + "OOCH", + "OOCH syndrome" + ] + }, + { + "gard_id": "GARD:0000405", + "name": "Subaortic stenosis short stature syndrome", + "synonyms": [ + "Onat syndrome" + ] + }, + { + "gard_id": "GARD:0000406", + "name": "O Donnell Pappas syndrome", + "synonyms": [ + "Foveal hypoplasia, presenile cataract", + "Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" + ] + }, + { + "gard_id": "GARD:0000407", + "name": "Ermine phenotype", + "synonyms": [ + "Pigmentary disorder with hearing loss", + "O'Doherty syndrome" + ] + }, + { + "gard_id": "GARD:0000408", + "name": "Kowarski syndrome", + "synonyms": [ + "Biodefective growth hormone", + "Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin" + ] + }, + { + "gard_id": "GARD:0000409", + "name": "Pachygyria-intellectual disability-epilepsy syndrome", + "synonyms": [ + "Pachygyria, mental retardation and epilepsy (formerly)", + "Kuzniecky syndrome" + ] + }, + { + "gard_id": "GARD:0000411", + "name": "Hypoparathyroidism-intellectual disability-dysmorphism syndrome", + "synonyms": [ + "Sanjad-Sakati syndrome", + "HRD syndrome", + "Hypoparathyroidism with short stature, intellectual disability and seizures", + "Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay", + "Hypoparathyroidism-short stature-intellectual disability-seizures syndrome", + "Richardson-Kirk syndrome", + "SSS" + ] + }, + { + "gard_id": "GARD:0000412", + "name": "Cheilitis glandularis", + "synonyms": null + }, + { + "gard_id": "GARD:0000413", + "name": "Geroderma osteodysplastica", + "synonyms": [ + "GO", + "Walt Disney dwarfism", + "Gerodermia osteodysplastica", + "Geroderma osteodysplasticum" + ] + }, + { + "gard_id": "GARD:0000414", + "name": "Bamforth syndrome", + "synonyms": [ + "Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate", + "Bamforth-Lazarus syndrome" + ] + }, + { + "gard_id": "GARD:0000415", + "name": "Pseudoprogeria syndrome", + "synonyms": [ + "Absent eyebrows and eyelashes with mental retardation", + "Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" + ] + }, + { + "gard_id": "GARD:0000418", + "name": "Pentosuria", + "synonyms": [ + "L-Xylulosuria", + "Xylitol dehydrogenase deficiency", + "L-Xylulose reductase deficiency" + ] + }, + { + "gard_id": "GARD:0000420", + "name": "Turcot syndrome", + "synonyms": [ + "Malignant tumors of the central nervous system associated with familial polyposis of the colon", + "CNS tumors with Familial polyposis of the colon", + "Mismatch Repair Cancer Syndrome", + "MMRCS", + "Mismatch Repair Deficiency", + "MMR Deficiency", + "Brain tumor-polyposis syndrome", + "Glioma-polyposis syndrome" + ] + }, + { + "gard_id": "GARD:0000422", + "name": "Tunglang Savage Bellman syndrome", + "synonyms": [ + "Hearing loss insensitivity to aldosterone", + "Hearing loss and familial salivary gland insensitivity to aldosterone" + ] + }, + { + "gard_id": "GARD:0000424", + "name": "XK aprosencephaly", + "synonyms": [ + "Garcia-Lurie syndrome", + "Aprosencephaly-atelencephaly syndrome", + "Aprosencephaly syndrome", + "XK syndrome", + "XK-aprosencephaly syndrome" + ] + }, + { + "gard_id": "GARD:0000425", + "name": "Tufted angioma", + "synonyms": [ + "Angioma tufted" + ] + }, + { + "gard_id": "GARD:0000427", + "name": "Tucker syndrome", + "synonyms": [ + "Ptosis vocal cord paralysis", + "Congenital bilateral recurrent nerve paralysis and ptosis" + ] + }, + { + "gard_id": "GARD:0000429", + "name": "Amniotic band syndrome", + "synonyms": [ + "Amniotic bands sequence", + "Familial amniotic bands", + "Streeter anomaly", + "Congenital constricting bands" + ] + }, + { + "gard_id": "GARD:0000431", + "name": "Microtia-Anotia", + "synonyms": [ + "M-A" + ] + }, + { + "gard_id": "GARD:0000432", + "name": "Arbovirosis", + "synonyms": [ + "Arbovirus fever" + ] + }, + { + "gard_id": "GARD:0000433", + "name": "Apparent mineralocorticoid excess", + "synonyms": [ + "Cortisol 11-beta-ketoreductase deficiency", + "AME 1", + "AME" + ] + }, + { + "gard_id": "GARD:0000434", + "name": "Hydrocephalus due to congenital stenosis of aqueduct of sylvius", + "synonyms": [ + "Hydrocephalus, X-linked", + "HSAS1", + "Aqueductal stenosis, X-linked", + "HSAS", + "HYCX", + "XLAS" + ] + }, + { + "gard_id": "GARD:0000435", + "name": "Ausems Wittebol-Post Hennekam syndrome", + "synonyms": [ + "Cleft lip with progressive retinopathy" + ] + }, + { + "gard_id": "GARD:0000436", + "name": "Adult-onset Still's disease", + "synonyms": [ + "Adult Still's disease", + "Still's disease adult onset" + ] + }, + { + "gard_id": "GARD:0000438", + "name": "Limb-girdle muscular dystrophy, type 2D", + "synonyms": [ + "LGMD2D", + "Muscular dystrophy limb-girdle with alpha-sarcoglycan", + "Alpha-sarcoglycanopathy", + "Duchenne-like autosomal recessive muscular dystrophy, type 2", + "DMDA2" + ] + }, + { + "gard_id": "GARD:0000439", + "name": "Abdominal cystic lymphangioma", + "synonyms": [ + "Retroperitoneal cystic lymphangioma", + "RCL", + "Abdominal retroperitoneal lymphangioma" + ] + }, + { + "gard_id": "GARD:0000448", + "name": "Vici syndrome", + "synonyms": [ + "Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum", + "Absent corpus callosum cataract immunodeficiency", + "Dionisi Vici Sabetta Gambarara syndrome" + ] + }, + { + "gard_id": "GARD:0000453", + "name": "Acanthosis nigricans muscle cramps acral enlargement", + "synonyms": [ + "Familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps" + ] + }, + { + "gard_id": "GARD:0000454", + "name": "Accessory pancreas", + "synonyms": [ + "Pancreas accessorium" + ] + }, + { + "gard_id": "GARD:0000456", + "name": "Achalasia microcephaly syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0000457", + "name": "Triple A syndrome", + "synonyms": [ + "Achalasia Addisonianism Alacrimia syndrome", + "AAA syndrome", + "AAA", + "Alacrima-achalasia-adrenal insufficiency neurologic disorder", + "Addisonian achalasia syndrome", + "Achalasia alacrima syndrome", + "Allgrove syndrome" + ] + }, + { + "gard_id": "GARD:0000458", + "name": "Spondylometaphyseal dysplasia type A4", + "synonyms": [ + "Spondylometaphyseal dysplasia A4 type" + ] + }, + { + "gard_id": "GARD:0000459", + "name": "Achondrogenesis type 1A", + "synonyms": [ + "ACG1A", + "Achondrogenesis Houston-Harris type", + "Houston-Harris achondrogenesis" + ] + }, + { + "gard_id": "GARD:0000460", + "name": "Achondrogenesis type 1B", + "synonyms": [ + "Achondrogenesis Fraccaro type", + "Fraccaro achondrogenesis", + "ACG1B" + ] + }, + { + "gard_id": "GARD:0000465", + "name": "Isovaleric acidemia", + "synonyms": [ + "Isovaleric acid CoA dehydrogenase deficiency", + "IVA", + "Isovaleryl CoA carboxylase deficiency", + "IVD deficiency" + ] + }, + { + "gard_id": "GARD:0000467", + "name": "Propionic acidemia", + "synonyms": [ + "Propionyl-CoA carboxylase deficiency", + "PCC deficiency", + "Glycinemia, ketotic", + "Hyperglycinemia with ketoacidosis and leukopenia", + "Ketotic hyperglycinemia", + "Ketotic glycinemia", + "PROP", + "Propionicacidemia" + ] + }, + { + "gard_id": "GARD:0000468", + "name": "Acitretin embryopathy", + "synonyms": [ + "Acitretin embryofetopathy", + "Fetal acitretin syndrome" + ] + }, + { + "gard_id": "GARD:0000469", + "name": "Pyramidal molars-abnormal upper lip syndrome", + "synonyms": [ + "Juvenile glaucoma with unusual upper lip and dental roots", + "Ackerman fused molar roots syndrome" + ] + }, + { + "gard_id": "GARD:0000476", + "name": "Ichthyosis, acquired", + "synonyms": [ + "Ichthyosis acquisita", + "Fish scale disease, acquired", + "Acquired ichthyosis" + ] + }, + { + "gard_id": "GARD:0000478", + "name": "Acral dysostosis dyserythropoiesis syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0000480", + "name": "Acrorenal mandibular syndrome", + "synonyms": [ + "Acro-renal-uterine-mandibular syndrome", + "Split hand split foot mandibular hypoplasia" + ] + }, + { + "gard_id": "GARD:0000484", + "name": "Acrofrontofacionasal dysostosis syndrome", + "synonyms": [ + "AFFN dysostosis 1", + "Polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate", + "Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly", + "Acro fronto facio nasal dysostosis" + ] + }, + { + "gard_id": "GARD:0000491", + "name": "Acrodysplasia scoliosis", + "synonyms": [ + "Prata-Liberal-Goncalves syndrome", + "Brachydactyly-scoliosis-carpal fusion syndrome" + ] + }, + { + "gard_id": "GARD:0000494", + "name": "Acrofacial dysostosis Catania type", + "synonyms": [ + "AFD Catania type", + "ACD", + "Opitz Mollica Sorge syndrome" + ] + }, + { + "gard_id": "GARD:0000495", + "name": "Acrofacial dysostosis Preis type", + "synonyms": null + }, + { + "gard_id": "GARD:0000496", + "name": "Acrofacial dysostosis Rodriguez type", + "synonyms": [ + "Rodriguez lethal acrofacial dysostosis syndrome" + ] + }, + { + "gard_id": "GARD:0000497", + "name": "Weyers acrofacial dysostosis", + "synonyms": [ + "Acrofacial dysostosis of Weyers", + "Curry Hall syndrome" + ] + }, + { + "gard_id": "GARD:0000498", + "name": "Nager acrofacial dysostosis", + "synonyms": [ + "Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies", + "Nager syndrome", + "AFD, Nager type", + "Preaxial acrofacial dysostosis", + "Nager acrofacial dysostosis syndrome", + "Split hand deformity-mandibulofacial dysostosis", + "Acrofacial dysostosis 1, Nager type" + ] + }, + { + "gard_id": "GARD:0000499", + "name": "Acrofacial dysostosis Palagonia type", + "synonyms": [ + "Palagonia type of acrofacial dysostosis", + "Palagonia form of AFD", + "PAFD", + "AFD- Palagonia type" + ] + }, + { + "gard_id": "GARD:0000500", + "name": "Acromegaloid changes, cutis verticis gyrata and corneal leukoma", + "synonyms": [ + "Rosenthal-Kloepfer syndrome" + ] + }, + { + "gard_id": "GARD:0000501", + "name": "Acromegaloid facial appearance syndrome", + "synonyms": [ + "AFA syndrome", + "Thick lips and oral mucosa" + ] + }, + { + "gard_id": "GARD:0000502", + "name": "Acromegaloid hypertrichosis syndrome", + "synonyms": [ + "Acromegaloid facial appearance syndrome and hypertrichosis" + ] + }, + { + "gard_id": "GARD:0000504", + "name": "Spondylometaphyseal dysplasia Algerian type", + "synonyms": [ + "Spondylometaphyseal dysplasia Schmidt type", + "Spondylometaphyseal dysplasia with severe genu valgum", + "Schmid metaphyseal dysostosis", + "Japanese type spondylometaphyseal dysplasia" + ] + }, + { + "gard_id": "GARD:0000505", + "name": "Acromesomelic dysplasia Campailla Martinelli type", + "synonyms": [ + "Mesomelic dwarfism Campailla-Martinelli type" + ] + }, + { + "gard_id": "GARD:0000506", + "name": "Acromesomelic dysplasia Hunter Thompson type", + "synonyms": null + }, + { + "gard_id": "GARD:0000507", + "name": "Acromesomelic dysplasia Maroteaux type", + "synonyms": [ + "AMDM", + "Acromesomelic dwarfism Maroteux type" + ] + }, + { + "gard_id": "GARD:0000508", + "name": "Acroosteolysis dominant type", + "synonyms": [ + "Acroosteolysis with osteoporosis and changes in skull and mandible", + "Arthrodentoosteodysplasia", + "Cheney syndrome", + "Hajdu-Cheney syndrome", + "Serpentine fibula-polycystic kidneys syndrome" + ] + }, + { + "gard_id": "GARD:0000511", + "name": "Acro-pectoro-renal field defect", + "synonyms": [ + "Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys" + ] + }, + { + "gard_id": "GARD:0000512", + "name": "Acropectorovertebral dysplasia F form", + "synonyms": [ + "ACRPV", + "F syndrome", + "Acropectorovertebral dysplasia" + ] + }, + { + "gard_id": "GARD:0000514", + "name": "Acrorenal syndrome recessive", + "synonyms": [ + "Acrorenal syndrome autosomal recessive", + "Curran syndrome" + ] + }, + { + "gard_id": "GARD:0000517", + "name": "Fetal retinoid syndrome", + "synonyms": [ + "Isotretinoin embryopathy", + "Accutane-exposed pregnancies", + "Isotretinoin (RoAccutane) embryopathy", + "Accutane fetal effects of", + "Acutane embryopathy", + "Isotretinoin fetal effects of", + "Isotretinoin teratogen syndrome" + ] + }, + { + "gard_id": "GARD:0000518", + "name": "Acute articular rheumatism", + "synonyms": [ + "Acute rheumatism" + ] + }, + { + "gard_id": "GARD:0000519", + "name": "Idiopathic acute eosinophilic pneumonia", + "synonyms": null + }, + { + "gard_id": "GARD:0000521", + "name": "Acute febrile neutrophilic dermatosis", + "synonyms": [ + "Sweet syndrome", + "SS", + "Neutrophilic dermatosis, acute febrile", + "Gomm Button disease" + ] + }, + { + "gard_id": "GARD:0000522", + "name": "Acute lymphoblastic leukemia", + "synonyms": [ + "ALL", + "Acute lymphocytic leukemia" + ] + }, + { + "gard_id": "GARD:0000523", + "name": "Acute lymphoblastic leukemia congenital sporadic aniridia", + "synonyms": null + }, + { + "gard_id": "GARD:0000524", + "name": "Acute megakaryoblastic leukemia", + "synonyms": [ + "Acute myeloblastic leukemia type 7", + "Acute megakaryocytic leukemia", + "Acute myeloid leukemia M7", + "AMKL", + "AML M7" + ] + }, + { + "gard_id": "GARD:0000525", + "name": "Acute monoblastic leukemia", + "synonyms": [ + "Acute myeloblastic leukemia type 5", + "Acute monocytic leukemia", + "AML-M5", + "AML M5" + ] + }, + { + "gard_id": "GARD:0000526", + "name": "Acute myeloblastic leukemia without maturation", + "synonyms": [ + "Acute myeloblastic leukemia type 1", + "Acute myeloblastic leukemia M1", + "AML M1" + ] + }, + { + "gard_id": "GARD:0000527", + "name": "Acute myeloblastic leukemia with maturation", + "synonyms": [ + "Acute myeloblastic leukemia type 2", + "Acute myeloblastic leukemia M2", + "AML M2", + "LAM M2" + ] + }, + { + "gard_id": "GARD:0000529", + "name": "Acute myelomonocytic leukemia", + "synonyms": [ + "AML-M4", + "Acute myeloblastic leukemia type 4", + "AML M4", + "AMMoL" + ] + }, + { + "gard_id": "GARD:0000536", + "name": "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ", + "synonyms": [ + "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", + "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)", + "CBFB-MYH11", + "Acute myelomonocytic leukemia" + ] + }, + { + "gard_id": "GARD:0000537", + "name": "Acute non lymphoblastic leukemia", + "synonyms": null + }, + { + "gard_id": "GARD:0000538", + "name": "Acute promyelocytic leukemia", + "synonyms": [ + "Acute myeloblastic leukemia type 3", + "Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants", + "AML M3", + "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants", + "Acute myeloblastic leukemia 3", + "APML" + ] + }, + { + "gard_id": "GARD:0000540", + "name": "Medium-chain acyl-coenzyme A dehydrogenase deficiency", + "synonyms": [ + "MCAD deficiency", + "Acyl-CoA dehydrogenase medium chain deficiency of", + "MCADH deficiency", + "ACADM deficiency", + "MCADD", + "Medium chain acyl CoA dehydrogenase deficiency", + "Medium-chain acyl-CoA dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0000546", + "name": "Adenine phosphoribosyltransferase deficiency", + "synonyms": [ + "2,8-dihydroxyadenine urolithiasis", + "APRT deficiency" + ] + }, + { + "gard_id": "GARD:0000547", + "name": "Adenosine monophosphate deaminase 1 deficiency", + "synonyms": [ + "AMP deaminase 1 deficiency", + "Myoadenylate deaminase deficiency", + "AMPD1 deficiency", + "Myopathy due to myoadenylate deaminase deficiency", + "MMDD", + "Adenosine monophosphate deaminase deficiency", + "AMP deaminase deficiency" + ] + }, + { + "gard_id": "GARD:0000548", + "name": "Anemia due to Adenosine triphosphatase deficiency", + "synonyms": [ + "Adenosine triphosphatase deficiency anemia" + ] + }, + { + "gard_id": "GARD:0000550", + "name": "Adenylosuccinase deficiency", + "synonyms": [ + "Adenylosuccinate lyase deficiency", + "ADSL deficiency" + ] + }, + { + "gard_id": "GARD:0000555", + "name": "X-linked adrenal hypoplasia congenita", + "synonyms": [ + "X-linked congenital adrenal hypoplasia", + "X-linked AHC", + "Adrenal hypoplasia congenita", + "Congenital adrenal hypoplasia" + ] + }, + { + "gard_id": "GARD:0000558", + "name": "Adrenocortical carcinoma", + "synonyms": [ + "ACC" + ] + }, + { + "gard_id": "GARD:0000559", + "name": "Neonatal adrenoleukodystrophy", + "synonyms": [ + "Adrenoleukodystrophy autosomal neonatal form", + "NALD" + ] + }, + { + "gard_id": "GARD:0000562", + "name": "Adrenomyodystrophy", + "synonyms": [ + "AMD", + "MAD", + "Mandibuloacral dysplasia" + ] + }, + { + "gard_id": "GARD:0000564", + "name": "Spinal muscular atrophy type 4", + "synonyms": [ + "Spinal muscular atrophy, adult form", + "SMA 4", + "Spinal muscular atrophy 4", + "Spinal muscular atrophy, proximal, adult, autosomal recessive", + "Adult-onset spinal muscular atrophy", + "Proximal spinal muscular atrophy type 4", + "SMA type 4", + "SMA type IV", + "SMA-IV", + "SMA4" + ] + }, + { + "gard_id": "GARD:0000572", + "name": "Agyria pachygyria polymicrogyria", + "synonyms": null + }, + { + "gard_id": "GARD:0000573", + "name": "Agyria-pachygyria type 1", + "synonyms": null + }, + { + "gard_id": "GARD:0000575", + "name": "Aicardi-Goutieres syndrome", + "synonyms": [ + "AGS", + "Aicardi Goutieres syndrome", + "Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis", + "Pseudotoxoplasmosis syndrome", + "Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid", + "CREE ENCEPHALITIS", + "Encephalopathy with basal ganglia calcification" + ] + }, + { + "gard_id": "GARD:0000577", + "name": "Akaba Hayasaka syndrome", + "synonyms": [ + "Frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia" + ] + }, + { + "gard_id": "GARD:0000578", + "name": "Akesson syndrome", + "synonyms": [ + "Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome", + "Cutis verticis gyrata, thyroaplasia and intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0000579", + "name": "Aksu von Stockhausen syndrome", + "synonyms": [ + "Hereditary branchial arch defects" + ] + }, + { + "gard_id": "GARD:0000581", + "name": "Asrar Facharzt Haque syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0000583", + "name": "Al Gazali Aziz Salem syndrome", + "synonyms": [ + "Short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease", + "Short stature, webbed neck, heart disease" + ] + }, + { + "gard_id": "GARD:0000584", + "name": "Al-Gazali-Donnai-Mueller syndrome", + "synonyms": [ + "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" + ] + }, + { + "gard_id": "GARD:0000586", + "name": "Al Gazali Khidr Prem Chandran syndrome", + "synonyms": [ + "Cherubism, optic atrophy and short stature" + ] + }, + { + "gard_id": "GARD:0000587", + "name": "Al Gazali Sabrinathan Nair syndrome", + "synonyms": [ + "Osteogenesis imperfecta retinopathy seizures intellectual deficit", + "Al Gazali-Nair syndrome" + ] + }, + { + "gard_id": "GARD:0000588", + "name": "Coloboma of alar-nasal cartilages with telecanthus", + "synonyms": [ + "Frontonasal dysplasia with alar clefts" + ] + }, + { + "gard_id": "GARD:0000589", + "name": "Albinism deafness syndrome", + "synonyms": [ + "ALDS", + "Albinism-deafness syndrome" + ] + }, + { + "gard_id": "GARD:0000592", + "name": "Albinism ocular late onset sensorineural deafness", + "synonyms": [ + "OASD", + "Ocular albinism with sensorineural deafness", + "Deafness and ocular albinism" + ] + }, + { + "gard_id": "GARD:0000594", + "name": "Oculocutaneous albinism type 1B", + "synonyms": [ + "Albinism, yellow mutant type", + "OCA1B", + "Yellow albinism", + "Yellow mutant albinism" + ] + }, + { + "gard_id": "GARD:0000596", + "name": "Albright like syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0000600", + "name": "Glycogen storage disease type 12", + "synonyms": [ + "GSD12", + "Glycogen storage disease 12", + "Aldolase A deficiency", + "Red cell aldolase deficiency", + "Aldolase deficiency red cell", + "Aldoa deficiency" + ] + }, + { + "gard_id": "GARD:0000602", + "name": "Allergic bronchopulmonary aspergillosis", + "synonyms": [ + "ABPA", + "Allergic bronchopulmonary mycosis", + "Aspergillosis, allergic bronchopulmonary", + "Hinson-Pepys disease" + ] + }, + { + "gard_id": "GARD:0000604", + "name": "Autosomal dominant palmoplantar keratoderma and congenital alopecia", + "synonyms": [ + "Alopecia congenita with hyperkeratosis of the palms and soles", + "Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia", + "Palmoplantar keratoderma and congenital alopecia, Stevanovic type", + "PPK-CA, Stevanovic type" + ] + }, + { + "gard_id": "GARD:0000605", + "name": "Alopecia-contractures-dwarfism-intellectual disability syndrome", + "synonyms": [ + "Alopecia-contractures-dwarfism intellectual disabilitysyndrome" + ] + }, + { + "gard_id": "GARD:0000606", + "name": "Alopecia epilepsy oligophrenia syndrome of Moynahan", + "synonyms": [ + "Moynahan alopecia syndrome", + "Moynahan syndrome", + "Alopecia-epilepsy-intellectual disability syndrome, Moynahan type" + ] + }, + { + "gard_id": "GARD:0000607", + "name": "Alopecia, epilepsy, pyorrhea, mental subnormality", + "synonyms": [ + "Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality", + "Shokeir syndrome", + "Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" + ] + }, + { + "gard_id": "GARD:0000612", + "name": "Alopecia-intellectual disability syndrome", + "synonyms": [ + "APMR1", + "AMR syndrome 1", + "Alopecia with severe intellectual deficit", + "Alopecia Intellectual disbility syndrome 1" + ] + }, + { + "gard_id": "GARD:0000613", + "name": "Alopecia totalis", + "synonyms": [ + "Loss of all scalp hair" + ] + }, + { + "gard_id": "GARD:0000614", + "name": "Alopecia universalis", + "synonyms": [ + "Alopecia areata universalis", + "AU" + ] + }, + { + "gard_id": "GARD:0000615", + "name": "Alopecia universalis onychodystrophy vitiligo", + "synonyms": [ + "Alopecia universalis, onychodystrophy, and total vitiligo" + ] + }, + { + "gard_id": "GARD:0000617", + "name": "Alpha-ketoglutarate dehydrogenase deficiency", + "synonyms": [ + "Alpha KGD deficiency", + "2 alpha ketoglutarate dehydrogenase deficiency", + "Oxoglutaricaciduria" + ] + }, + { + "gard_id": "GARD:0000621", + "name": "Alpha-thalassemia", + "synonyms": [ + "A-Thalassemia", + "Alpha thalassemia" + ] + }, + { + "gard_id": "GARD:0000624", + "name": "Autosomal dominant Alport syndrome", + "synonyms": [ + "Renal failure and sensorineural hearing loss", + "Alport syndrome dominant type" + ] + }, + { + "gard_id": "GARD:0000625", + "name": "Autosomal recessive Alport syndrome", + "synonyms": [ + "Alport syndrome autosomal recessive", + "Nephropathy and deafness", + "Alport syndrome recessive type" + ] + }, + { + "gard_id": "GARD:0000632", + "name": "Familial Alzheimer disease", + "synonyms": [ + "Familial Alzheimer disease", + "FAD" + ] + }, + { + "gard_id": "GARD:0000634", + "name": "Leber congenital amaurosis", + "synonyms": [ + "LCA", + "Congenital absence of the rods and cones", + "Congenital retinal blindness", + "Leber's amaurosis", + "Leber's congenital tapetoretinal degeneration", + "Leber's congenital tapetoretinal dysplasia", + "Amaurosis congenita of Leber" + ] + }, + { + "gard_id": "GARD:0000635", + "name": "Leber congenital amaurosis 1", + "synonyms": [ + "LCA1", + "Amaurosis congenita of Leber, type 1", + "Retinal blindness, congenital", + "CRB", + "Leber congenital amaurosis type 1" + ] + }, + { + "gard_id": "GARD:0000636", + "name": "Leber congenital amaurosis 2", + "synonyms": [ + "LCA2", + "Amaurosis congenita of Leber, type 2", + "Leber congenital amaurosis type 2" + ] + }, + { + "gard_id": "GARD:0000637", + "name": "Amaurosis congenita cone-rod type with congenital hypertrichosis", + "synonyms": null + }, + { + "gard_id": "GARD:0000640", + "name": "Congenital amegakaryocytic thrombocytopenia", + "synonyms": [ + "Thrombocytopenia congenital amegakaryocytic", + "CAMT" + ] + }, + { + "gard_id": "GARD:0000641", + "name": "Brachial amelia, cleft lip, and holoprosencephaly", + "synonyms": [ + "Brachial amelia, cleft lip, and forebrain defects" + ] + }, + { + "gard_id": "GARD:0000645", + "name": "Amelogenesis imperfecta local hypoplastic", + "synonyms": [ + "Local hypoplastic amelogenesis imperfecta" + ] + }, + { + "gard_id": "GARD:0000646", + "name": "Amelogenesis imperfecta nephrocalcinosis", + "synonyms": [ + "Enamel renal syndrome", + "ERS", + "Absent enamel, nephrocalcinosis and apparently normal calcium metabolism", + "Generalized enamel hypoplasia and renal dysfunction" + ] + }, + { + "gard_id": "GARD:0000647", + "name": "Ameloonychohypohidrotic syndrome", + "synonyms": [ + "Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" + ] + }, + { + "gard_id": "GARD:0000652", + "name": "Amebiasis", + "synonyms": [ + "Amoebic dysentery due to Entamoeba histolytica", + "Amoebiasis due to Entamoeba histolytica", + "Amebic dysentery", + "Intestinal amebiasis" + ] + }, + { + "gard_id": "GARD:0000654", + "name": "Ampola syndrome", + "synonyms": [ + "Beta-mercaptolactate cysteine disulfiduria" + ] + }, + { + "gard_id": "GARD:0000656", + "name": "Familial transthyretin amyloidosis", + "synonyms": [ + "Amyloidosis, hereditary, transthyretin-related", + "Transthyretin amyloidosis", + "Familial amyloid polyneuropathy", + "Amyloidosis Transthyretin related", + "Transthyretin amyloid neuropathy", + "TTR amyloid neuropathy", + "Transthyretin amyloid polyneuropathy", + "Hereditary ATTR amyloidosis" + ] + }, + { + "gard_id": "GARD:0000657", + "name": "Amyloidosis of gingiva and conjunctiva with intellectual disability", + "synonyms": [ + "Amyloidosis of gingiva and conjunctiva with mental retardation", + "Hornova Dlushosova syndrome" + ] + }, + { + "gard_id": "GARD:0000664", + "name": "Anaplastic thyroid cancer", + "synonyms": [ + "Thyroid cancer, anaplastic", + "Thyroid carcinoma, anaplastic", + "Anaplastic thyroid carcinoma" + ] + }, + { + "gard_id": "GARD:0000668", + "name": "Anemia sideroblastic and spinocerebellar ataxia", + "synonyms": [ + "ASAT", + "Sideroblastic anemia with spinocerebellar ataxia", + "Pagon Bird Detter syndrome", + "X-linked sideroblastic anemia with ataxia", + "X-linked sideroblastic anemia and ataxia", + "XLSA-A", + "Pagon-Bird-Detter syndrome", + "X-linked sideroblastic anemia and spinocerebellar ataxia" + ] + }, + { + "gard_id": "GARD:0000669", + "name": "Anencephaly and spina bifida X-linked", + "synonyms": [ + "X-linked anencephaly/spina bifida" + ] + }, + { + "gard_id": "GARD:0000670", + "name": "Aneurysm of sinus of Valsalva", + "synonyms": [ + "Sinus of Valsalva aneurysm", + "SVA" + ] + }, + { + "gard_id": "GARD:0000671", + "name": "Angel shaped phalangoepiphyseal dysplasia", + "synonyms": [ + "Angel-shaped phalango-epiphyseal dysplasia", + "ASPED" + ] + }, + { + "gard_id": "GARD:0000676", + "name": "Angioma hereditary neurocutaneous", + "synonyms": [ + "Hereditary neurocutaneous Angioma" + ] + }, + { + "gard_id": "GARD:0000683", + "name": "Angiostrongyliasis", + "synonyms": null + }, + { + "gard_id": "GARD:0000685", + "name": "Aniridia absent patella", + "synonyms": [ + "Familial syndrome of aniridia and absence of the patella" + ] + }, + { + "gard_id": "GARD:0000689", + "name": "Aniridia - ptosis - intellectual disability - familial obesity", + "synonyms": [ + "Aniridia-ptosis-intellectual disability-familial obesity syndrome" + ] + }, + { + "gard_id": "GARD:0000690", + "name": "Aniridia renal agenesis psychomotor retardation", + "synonyms": [ + "Aniridia partial with unilateral renal agenesis and psychomotor retardation", + "Sommer Rathbun Battles syndrome" + ] + }, + { + "gard_id": "GARD:0000693", + "name": "Anisakiasis", + "synonyms": [ + "Anisakis infection", + "Pseudoterranova infection" + ] + }, + { + "gard_id": "GARD:0000696", + "name": "Ankyloblepharon filiforme adnatum cleft palate", + "synonyms": [ + "Congenital filiform fusion of the eyelids with cleft palate and/or cleft lip", + "Ankyloblepharon filiforme adnatum", + "Ankyloblepharon filiforme congenitum" + ] + }, + { + "gard_id": "GARD:0000697", + "name": "Ankyloblepharon filiforme imperforate anus", + "synonyms": null + }, + { + "gard_id": "GARD:0000701", + "name": "Ankylosis of teeth", + "synonyms": [ + "Molar I reinclusion", + "Dental ankylosis", + "Secondary retention of permanent molars", + "Abnormal fusion of dental cementum with alveolar bone" + ] + }, + { + "gard_id": "GARD:0000704", + "name": "Annular constricting bands", + "synonyms": null + }, + { + "gard_id": "GARD:0000705", + "name": "Annular pancreas", + "synonyms": [ + "Pancreas, annular" + ] + }, + { + "gard_id": "GARD:0000708", + "name": "Anonychia ectrodactyly", + "synonyms": null + }, + { + "gard_id": "GARD:0000710", + "name": "Onychodystrophy-anonychia", + "synonyms": [ + "Absent nails and dystrophic nails" + ] + }, + { + "gard_id": "GARD:0000711", + "name": "Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly", + "synonyms": [ + "Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly" + ] + }, + { + "gard_id": "GARD:0000713", + "name": "Microphthalmia syndromic 9", + "synonyms": [ + "MCOPS9", + "Matthew Wood syndrome", + "Clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations", + "Anophthalmia/microphthalmia and pulmonary hypoplasia", + "Spear syndrome", + "Pulmonary agenesis microphthalmi and diaphragmatic defect" + ] + }, + { + "gard_id": "GARD:0000715", + "name": "Anophthalmia cleft palate micrognathia", + "synonyms": null + }, + { + "gard_id": "GARD:0000716", + "name": "Anophthalmia esophageal atresia cryptorchidism", + "synonyms": null + }, + { + "gard_id": "GARD:0000717", + "name": "Anophthalmia megalocornea cardiopathy skeletal anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0000719", + "name": "Anophthalmia plus syndrome", + "synonyms": [ + "Fryns microphthalmia syndrome", + "Fryns anophthalmia syndrome", + "Microphthalmia with facial clefting", + "Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder", + "Leichtman Wood Rohn syndrome" + ] + }, + { + "gard_id": "GARD:0000722", + "name": "Anophthalmos with limb anomalies", + "synonyms": [ + "Anophthalmia Waardenburg syndrome", + "Waardenburg anophthalmia syndrome", + "Anophthalmos-syndactyly", + "Ophthalmoacromelic syndrome" + ] + }, + { + "gard_id": "GARD:0000725", + "name": "Anotia facial palsy cardiac defect", + "synonyms": null + }, + { + "gard_id": "GARD:0000730", + "name": "Anti-HLA hyperimmunization", + "synonyms": null + }, + { + "gard_id": "GARD:0000731", + "name": "Anti-plasmin deficiency, congenital", + "synonyms": [ + "Antiplasmin deficiency, congenital", + "Alpha-2-plasmin inhibitor deficiency" + ] + }, + { + "gard_id": "GARD:0000732", + "name": "Antigen-peptide-transporter 2 deficiency", + "synonyms": [ + "TAP 2 deficiency" + ] + }, + { + "gard_id": "GARD:0000735", + "name": "Antisynthetase syndrome", + "synonyms": [ + "Anti-Jo1 syndrome", + "AS syndrome" + ] + }, + { + "gard_id": "GARD:0000736", + "name": "Hereditary antithrombin deficiency type I", + "synonyms": [ + "Inherited antithrombin deficiency type I", + "Hereditary antithrombin deficiency type 1", + "Inherited antithrombin deficiency classic type" + ] + }, + { + "gard_id": "GARD:0000738", + "name": "Aorta-pulmonary artery fistula", + "synonyms": [ + "Aortopulmonary fistula", + "Aorto-pulmonary artery fistula" + ] + }, + { + "gard_id": "GARD:0000739", + "name": "Aortic arch anomaly - peculiar facies - intellectual disability", + "synonyms": [ + "Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism", + "Aortic arch anomaly-peculiar facies-intellectual disability syndrome", + "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0000740", + "name": "Aortic arch interruption", + "synonyms": null + }, + { + "gard_id": "GARD:0000741", + "name": "Aortic arches defect", + "synonyms": [ + "Aortic arch defects" + ] + }, + { + "gard_id": "GARD:0000742", + "name": "Aortic dissection lentiginosis", + "synonyms": null + }, + { + "gard_id": "GARD:0000743", + "name": "Supravalvular aortic stenosis", + "synonyms": [ + "SVAS", + "Supravalvar aortic stenosis, Eisenberg type", + "Aortic supravalvular stenosis" + ] + }, + { + "gard_id": "GARD:0000744", + "name": "Aortic valves stenosis of the child", + "synonyms": null + }, + { + "gard_id": "GARD:0000745", + "name": "Aortopulmonary window", + "synonyms": [ + "Aortic-pulmonary window", + "Aortopulmonary septal defect", + "Aorto-pulmonary window" + ] + }, + { + "gard_id": "GARD:0000748", + "name": "Aphalangia partial with syndactyly and duplication of metatarsal IV", + "synonyms": null + }, + { + "gard_id": "GARD:0000753", + "name": "Aplasia cutis congenita intestinal lymphangiectasia", + "synonyms": [ + "ACC with intestinal lymphangiectasia" + ] + }, + { + "gard_id": "GARD:0000754", + "name": "Aplasia cutis congenita of limbs recessive", + "synonyms": [ + "Congenital absence of skin on the upper or lower limbs", + "Recessive aplasia cutis congenita of the limbs" + ] + }, + { + "gard_id": "GARD:0000756", + "name": "Aplasia cutis myopia", + "synonyms": null + }, + { + "gard_id": "GARD:0000758", + "name": "Apo A-I deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0000759", + "name": "Apolipoprotein C-II deficiency", + "synonyms": [ + "Hyperlipoproteinemia, type Ib", + "APOC2 deficiency" + ] + }, + { + "gard_id": "GARD:0000763", + "name": "Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis", + "synonyms": null + }, + { + "gard_id": "GARD:0000764", + "name": "Arachnodactyly - intellectual disability - dysmorphism", + "synonyms": [ + "De Die-Smulders-Vles-Fryns syndrome", + "Arachnodactyly-intellectual disability-dysmorphism syndrome" + ] + }, + { + "gard_id": "GARD:0000770", + "name": "Aromatic L-amino acid decarboxylase deficiency", + "synonyms": [ + "Aromatic amino acid decarboxylase deficiency", + "AADC deficiency", + "DDC deficiency", + "Dopa decarboxylase deficiency" + ] + }, + { + "gard_id": "GARD:0000771", + "name": "Arroyo Garcia Cimadevilla syndrome", + "synonyms": [ + "Bilateral anophthalmia, esophageal atresia, and right cryptorchidism" + ] + }, + { + "gard_id": "GARD:0000774", + "name": "Arterial tortuosity syndrome", + "synonyms": [ + "Arterial tortuosity", + "ATS" + ] + }, + { + "gard_id": "GARD:0000777", + "name": "Arthrogryposis multiplex congenita", + "synonyms": [ + "Arthrogryposis", + "Congenital multiple arthrogryposis", + "Fibrous ankylosis of multiple joints", + "Congenital arthromyodysplasia", + "Myodystrophia fetalis deformans", + "Guérin-Stern syndrome", + "Otto syndrome", + "Rocher-Sheldon syndrome", + "Rossi syndrome", + "Guerin-Stern syndrome" + ] + }, + { + "gard_id": "GARD:0000779", + "name": "Arthrogryposis due to muscular dystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0000781", + "name": "Arthrogryposis epileptic seizures migrational brain disorder", + "synonyms": [ + "Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder" + ] + }, + { + "gard_id": "GARD:0000782", + "name": "Arthrogryposis IUGR thoracic dystrophy", + "synonyms": [ + "Van Bervliet syndrome" + ] + }, + { + "gard_id": "GARD:0000784", + "name": "Arthrogryposis-like hand anomaly and sensorineural deafness", + "synonyms": [ + "Arthrogryposis, distal, type 6", + "DA6", + "Familial hand abnormality and sensori-neural deafness", + "Distal arthrogryposis type 6" + ] + }, + { + "gard_id": "GARD:0000785", + "name": "Arthrogryposis multiplex congenita CNS calcification", + "synonyms": null + }, + { + "gard_id": "GARD:0000786", + "name": "Distal arthrogryposis", + "synonyms": [ + "Arthrogryposis multiplex congenita distal" + ] + }, + { + "gard_id": "GARD:0000787", + "name": "Distal arthrogryposis type 1", + "synonyms": [ + "AMCD1", + "Digitotalar dysmorphism", + "Arthrogryposis multiplex congenita distal type 1", + "Distal arthrogryposis type 1B (sub-type)", + "Distal arthrogryposis type 1A (sub-type)", + "DA1A" + ] + }, + { + "gard_id": "GARD:0000790", + "name": "Arthrogryposis multiplex congenita neurogenic type", + "synonyms": [ + "AMCN", + "AMC, neurogenic type", + "Neurogenic type of AMC" + ] + }, + { + "gard_id": "GARD:0000791", + "name": "Arthrogryposis multiplex congenita pulmonary hypoplasia", + "synonyms": [ + "Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings" + ] + }, + { + "gard_id": "GARD:0000792", + "name": "Arthrogryposis multiplex congenita whistling face", + "synonyms": [ + "Illum syndrome", + "Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system", + "Arthrogryposis multiplex congenita-whistling face syndrome" + ] + }, + { + "gard_id": "GARD:0000794", + "name": "Arthrogryposis renal dysfunction cholestasis syndrome", + "synonyms": [ + "ARC syndrome", + "Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis", + "Arthrogryposis - renal dysfunction - cholestasis", + "Arthrogryposis-renal dysfunction-cholestasis syndrome" + ] + }, + { + "gard_id": "GARD:0000795", + "name": "Arthrogryposis spinal muscular atrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0000802", + "name": "Atrioventricular septal defect", + "synonyms": null + }, + { + "gard_id": "GARD:0000804", + "name": "Alagille syndrome", + "synonyms": [ + "Hepatic ductular hypoplasia", + "Watson Alagille syndrome", + "Alagille-Watson syndrome", + "Cholestasis with peripheral pulmonary stenosis", + "Arteriohepatic dysplasia", + "Paucity of interlobular bile ducts", + "Cardiovertebral syndrome", + "Watson-Miller syndrome", + "Hepatofacioneurocardiovertebral syndrome" + ] + }, + { + "gard_id": "GARD:0000806", + "name": "Spastic paraplegia facial cutaneous lesions", + "synonyms": [ + "Bahemuka Brown syndrome" + ] + }, + { + "gard_id": "GARD:0000808", + "name": "Baker Vinters syndrome", + "synonyms": [ + "Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies" + ] + }, + { + "gard_id": "GARD:0000809", + "name": "Balantidiasis", + "synonyms": [ + "Human balantidiasis", + "Balantidiosis", + "Large-intestinal infection with Balantidium coli", + "Balantidium coli infection", + "B coli infection" + ] + }, + { + "gard_id": "GARD:0000812", + "name": "Bangstad syndrome", + "synonyms": [ + "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" + ] + }, + { + "gard_id": "GARD:0000813", + "name": "Banki syndrome", + "synonyms": [ + "Fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)" + ] + }, + { + "gard_id": "GARD:0000816", + "name": "Orofaciodigital syndrome 4", + "synonyms": [ + "OFD4", + "Orofaciodigital syndrome with tibial dysplasia", + "Baraitser-Burn syndrome", + "OFD syndrome with tibial defects", + "OFD syndrome 4", + "Oral-facial-digital syndrome type 4", + "Orofaciodigital syndrome IV", + "Oral facial digital syndrome type 4", + "Oral facial digital syndrome 4", + "OFDS 4" + ] + }, + { + "gard_id": "GARD:0000819", + "name": "Barber Say syndrome", + "synonyms": [ + "Hypertrichosis, atrophic skin, ectropion, and macrostomia", + "Hypertrichosis atrophic skin ectropion macrostomia" + ] + }, + { + "gard_id": "GARD:0000820", + "name": "Bardet-Biedl syndrome 1", + "synonyms": [ + "BBS1", + "Bardet-Biedl syndrome", + "BBS" + ] + }, + { + "gard_id": "GARD:0000821", + "name": "Bardet-Biedl syndrome 2", + "synonyms": [ + "BBS2", + "Bardet-Biedl syndrome", + "BBS" + ] + }, + { + "gard_id": "GARD:0000822", + "name": "Bardet-Biedl syndrome 3", + "synonyms": null + }, + { + "gard_id": "GARD:0000823", + "name": "Bardet-Biedl syndrome 4", + "synonyms": null + }, + { + "gard_id": "GARD:0000824", + "name": "Bare lymphocyte syndrome 2", + "synonyms": [ + "Bare lymphocyte syndrome type 2", + "BLS 2", + "Severe combined immunodeficiency, HLA class ii-negative", + "SCID, HLA Class 2-Negative" + ] + }, + { + "gard_id": "GARD:0000825", + "name": "Barnicoat Baraitser syndrome", + "synonyms": [ + "Barnicoat-Baraitser syndrome", + "Polysyndactyly overgrowth syndrome" + ] + }, + { + "gard_id": "GARD:0000826", + "name": "Frontometaphyseal dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0000830", + "name": "Bartter syndrome antenatal type 1", + "synonyms": [ + "Hypokalemic alkalosis with hypercalciuria antenatal 1", + "Hyperprostaglandin E syndrome 1", + "Antenatal Bartter Syndrome type 1" + ] + }, + { + "gard_id": "GARD:0000833", + "name": "Basaran Yilmaz syndrome", + "synonyms": [ + "Keratoderma, hypotrichosis and leukonychia totalis" + ] + }, + { + "gard_id": "GARD:0000835", + "name": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome", + "synonyms": [ + "Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract", + "Bassoe syndrome" + ] + }, + { + "gard_id": "GARD:0000836", + "name": "Battaglia-Neri syndrome", + "synonyms": [ + "Epilepsy - microcephaly - skeletal dysplasia", + "Mental retardation, microcephaly, epilepsy, and coarse face" + ] + }, + { + "gard_id": "GARD:0000838", + "name": "Bazex-Dupre-Christol syndrome", + "synonyms": [ + "BDCS", + "Bazex syndrome", + "BZX", + "Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome", + "Follicular atrophoderma-basal cell carcinoma syndrome", + "Follicular atrophoderma and basal cell carcinomas", + "Bazex-Dupré-Christol syndrome" + ] + }, + { + "gard_id": "GARD:0000841", + "name": "Bd syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0000842", + "name": "Ankylosing vertebral hyperostosis with tylosis", + "synonyms": [ + "Familial ankylosing vertebral hyperostosis with tylosis" + ] + }, + { + "gard_id": "GARD:0000846", + "name": "Beemer Ertbruggen syndrome", + "synonyms": [ + "Beemer lethal malformation syndrome", + "Hydrocephalus, cardiac malformation, dense bones, etc", + "Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" + ] + }, + { + "gard_id": "GARD:0000848", + "name": "Behçet disease", + "synonyms": [ + "Behçet's syndrome", + "Behçet syndrome", + "BD", + "Behcet syndrome", + "Behcet's disease", + "Behçet’s disease", + "Behcet's syndrome", + "Behçet's disease" + ] + }, + { + "gard_id": "GARD:0000849", + "name": "Behr syndrome", + "synonyms": [ + "Optic atrophy, infantile hereditary, Behr complicated form of", + "Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss", + "OBSOLETE: Behr syndrome" + ] + }, + { + "gard_id": "GARD:0000852", + "name": "Ben Ari Shuper Mimouni syndrome", + "synonyms": [ + "Agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies" + ] + }, + { + "gard_id": "GARD:0000853", + "name": "Benallegue Lacete syndrome", + "synonyms": [ + "Cloverleaf skull and asphyxiating thoracic dysplasia" + ] + }, + { + "gard_id": "GARD:0000855", + "name": "Benign autosomal dominant myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0000856", + "name": "Convulsions, benign familial infantile, 1", + "synonyms": [ + "BFIC1", + "BFIC", + "BFIS1", + "Seizures, benign familial infantile, 1", + "Benign infantile familial convulsions", + "Benign familial infantile convulsions syndrome" + ] + }, + { + "gard_id": "GARD:0000857", + "name": "Benign familial infantile epilepsy", + "synonyms": null + }, + { + "gard_id": "GARD:0000860", + "name": "Van Benthem-Driessen-Hanveld syndrome", + "synonyms": [ + "Cryptorchidism arachnodactyly intellectual deficit", + "Cryptorchidism-arachnodactyly-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0000863", + "name": "IgA nephropathy", + "synonyms": [ + "Nephritis, IGA type", + "IGAN", + "Glomerulonephritis, IGA", + "Berger's disease", + "Berger disease" + ] + }, + { + "gard_id": "GARD:0000867", + "name": "Beryllium disease", + "synonyms": [ + "Subacute Berylliosis", + "Reversible Berylliosis", + "Acute Berylliosis", + "Chronic pulmonary Berylliosis", + "Beryllliosis" + ] + }, + { + "gard_id": "GARD:0000869", + "name": "Mannosidosis, beta A, lysosomal", + "synonyms": [ + "Beta-mannosidosis", + "Lysosomal beta-mannosidase deficiency", + "Beta-mannosidase deficiency" + ] + }, + { + "gard_id": "GARD:0000870", + "name": "Beta-sarcoglycanopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0000871", + "name": "Beta-thalassemia", + "synonyms": [ + "Beta thalassemia major", + "Cooley's anemia", + "Beta thalassemia intermedia", + "Beta thalassemia minor", + "Erythroblastic anemia", + "Mediterranean anemia", + "Thalassemia, Hispanic gamma-delta-beta", + "Thalassemias, beta-" + ] + }, + { + "gard_id": "GARD:0000872", + "name": "Beta ketothiolase deficiency", + "synonyms": [ + "Alpha-methylacetoaceticaciduria", + "2-methyl-3-hydroxybutyricacidemia", + "Mitochondrial acetoacetyl-CoA Thiolase deficiency", + "3-oxothiolase deficiency", + "3-ketothiolase deficiency" + ] + }, + { + "gard_id": "GARD:0000873", + "name": "Bethlem myopathy", + "synonyms": [ + "Myopathy, benign congenital, with contractures", + "Muscular dystrophy, benign congenital" + ] + }, + { + "gard_id": "GARD:0000878", + "name": "Bidirectional tachycardia", + "synonyms": [ + "Bidirectional ventricular tachycardia" + ] + }, + { + "gard_id": "GARD:0000881", + "name": "Biemond syndrome type 1", + "synonyms": null + }, + { + "gard_id": "GARD:0000882", + "name": "Biemond syndrome 2", + "synonyms": [ + "Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly", + "BS2" + ] + }, + { + "gard_id": "GARD:0000884", + "name": "Bifid nose", + "synonyms": [ + "Median fissure of nose", + "Nose, median cleft of" + ] + }, + { + "gard_id": "GARD:0000885", + "name": "Bilateral renal agenesis dominant type", + "synonyms": null + }, + { + "gard_id": "GARD:0000887", + "name": "Biliary atresia intrahepatic non syndromic form", + "synonyms": null + }, + { + "gard_id": "GARD:0000888", + "name": "Biliary atresia intrahepatic syndromic form", + "synonyms": null + }, + { + "gard_id": "GARD:0000892", + "name": "Billet Bear syndrome", + "synonyms": [ + "Lower limb partial duplication renal agenesis" + ] + }, + { + "gard_id": "GARD:0000893", + "name": "Fallot complex with severe mental and growth retardation", + "synonyms": [ + "Bindewald Ulmer Muller syndrome" + ] + }, + { + "gard_id": "GARD:0000894", + "name": "Biotinidase deficiency", + "synonyms": [ + "Biotin deficiency", + "BTD deficiency", + "Late-onset biotin-responsive multiple carboxylase deficiency", + "Late-onset multiple carboxylase deficiency" + ] + }, + { + "gard_id": "GARD:0000895", + "name": "Microcephalic primordial dwarfism, Montreal type", + "synonyms": [ + "Bird-headed dwarfism with features of premature senility", + "Premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" + ] + }, + { + "gard_id": "GARD:0000897", + "name": "Bixler Christian Gorlin syndrome", + "synonyms": [ + "HMC syndrome", + "Hypertelorism microtia facial clefting syndrome" + ] + }, + { + "gard_id": "GARD:0000902", + "name": "Blepharo naso facial syndrome Van maldergem type", + "synonyms": null + }, + { + "gard_id": "GARD:0000905", + "name": "Blepharophimosis with ptosis, syndactyly, and short stature", + "synonyms": [ + "Frydman Cohen Karmon syndrome", + "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" + ] + }, + { + "gard_id": "GARD:0000912", + "name": "Blepharoptosis myopia ectopia lentis", + "synonyms": [ + "Dominantly inherited blepharoptosis, high myopia, and ectopia lentis" + ] + }, + { + "gard_id": "GARD:0000914", + "name": "Chondrodysplasia Blomstrand type", + "synonyms": [ + "BOCD", + "Blomstrand's lethal chondrodysplasia", + "Blomstrand lethal osteochondrodysplasia" + ] + }, + { + "gard_id": "GARD:0000915", + "name": "Bloom syndrome", + "synonyms": [ + "BS", + "Bloom-Torre-Machacek syndrome", + "BLM", + "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", + "BLS", + "Congenital Telangiectatic Erythema" + ] + }, + { + "gard_id": "GARD:0000916", + "name": "Blount disease", + "synonyms": [ + "Tibia vara", + "Osteochondrosis deformans tibiae", + "Blount's disease", + "Blount-Barber syndrome", + "Erlacher-Blount syndrome", + "Osteochondrosis deformans tibiae, familial infantile type" + ] + }, + { + "gard_id": "GARD:0000917", + "name": "Blue cone monochromatism", + "synonyms": [ + "CBBM", + "BCM", + "Color blindness blue mono cone monochromatic type", + "X-chromosome-linked achromatopsia", + "Incomplete achromatopsia X-linked", + "X-linked achromatopsia incomplete", + "Achromatopsia incomplete X-linked" + ] + }, + { + "gard_id": "GARD:0000918", + "name": "BOD syndrome", + "synonyms": [ + "Brachymorphism-onychodysplasia-dysphalangism syndrome", + "Brachymorphism onychodysplasia dysphalangism syndrome" + ] + }, + { + "gard_id": "GARD:0000920", + "name": "Bone dysplasia Azouz type", + "synonyms": null + }, + { + "gard_id": "GARD:0000921", + "name": "Bone dysplasia corpus callosum agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0000922", + "name": "Bone dysplasia lethal Holmgren type", + "synonyms": null + }, + { + "gard_id": "GARD:0000923", + "name": "Bone dysplasia Moore type", + "synonyms": null + }, + { + "gard_id": "GARD:0000932", + "name": "Book syndrome", + "synonyms": [ + "Premolar aplasia, hyperhidrosis, and canities prematura", + "PHC syndrome" + ] + }, + { + "gard_id": "GARD:0000933", + "name": "Boomerang dysplasia", + "synonyms": [ + "Dwarfism with short, bowed, rigid limbs and characteristic facies", + "Boomerang-like skeletal dysplasia" + ] + }, + { + "gard_id": "GARD:0000936", + "name": "Borjeson-Forssman-Lehmann syndrome", + "synonyms": [ + "Borjeson Syndrome", + "BFLS", + "BORJ", + "Mental deficiency, epilepsy and endocrine disorders", + "Intellectual deficiency-epilepsy-endocrine disorders syndrome", + "Intellectual disability-epilepsy-endocrine disorders syndrome" + ] + }, + { + "gard_id": "GARD:0000938", + "name": "Bork Stender Schmidt syndrome", + "synonyms": [ + "Bork syndrome", + "Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" + ] + }, + { + "gard_id": "GARD:0000939", + "name": "Borrone Di Rocco Crovato syndrome", + "synonyms": [ + "Borrone dermatocardioskeletal syndrome" + ] + }, + { + "gard_id": "GARD:0000942", + "name": "Bothriocephalosis", + "synonyms": null + }, + { + "gard_id": "GARD:0000943", + "name": "Botulism", + "synonyms": [ + "Foodborne botulism (subtype)", + "Infant botulism (subtype)", + "Wound botulism (subtype)" + ] + }, + { + "gard_id": "GARD:0000944", + "name": "Ataxia - hypogonadism - choroidal dystrophy", + "synonyms": [ + "Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism", + "Boucher-Neuhäuser syndrome", + "Ataxia-hypogonadism-choroidal dystrophy syndrome" + ] + }, + { + "gard_id": "GARD:0000945", + "name": "Boudhina Yedes Khiari syndrome", + "synonyms": [ + "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" + ] + }, + { + "gard_id": "GARD:0000953", + "name": "Bowing of long bones congenital", + "synonyms": null + }, + { + "gard_id": "GARD:0000954", + "name": "Boylan Dew Greco syndrome", + "synonyms": [ + "Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita" + ] + }, + { + "gard_id": "GARD:0000955", + "name": "Brachioskeletogenital syndrome", + "synonyms": [ + "BSG syndrome", + "Branchio-skeleto-genital syndrome", + "Branchioskeletogenital syndrome", + "Elsahy-Waters syndrome" + ] + }, + { + "gard_id": "GARD:0000957", + "name": "Brachycephalofrontonasal dysplasia", + "synonyms": [ + "Hypertelorism, Teebi type", + "Teebi hypertelorism syndrome", + "Craniofrontonasal dysplasia, Teebi type" + ] + }, + { + "gard_id": "GARD:0000958", + "name": "Fine-Lubinsky syndrome", + "synonyms": [ + "Brachycephaly, deafness, cataract and mental retardation" + ] + }, + { + "gard_id": "GARD:0000959", + "name": "Brachydactyly types B and E combined", + "synonyms": [ + "Pitt Williams brachydactyly", + "Brachydactyly Ballard type", + "Brachydactyly combined B and E types", + "Ballard syndrome" + ] + }, + { + "gard_id": "GARD:0000960", + "name": "Brachydactylous dwarfism Mseleni type", + "synonyms": [ + "Brachydactylous dwarfs of Mseleni" + ] + }, + { + "gard_id": "GARD:0000961", + "name": "Brachydactyly absence of distal phalanges", + "synonyms": null + }, + { + "gard_id": "GARD:0000962", + "name": "Brachydactyly anonychia", + "synonyms": null + }, + { + "gard_id": "GARD:0000963", + "name": "Brachydactyly type A3", + "synonyms": [ + "BDA3", + "Brachymesophalangy 5", + "Brachydactyly-clinodactyly" + ] + }, + { + "gard_id": "GARD:0000966", + "name": "Brachydactyly elbow wrist dysplasia", + "synonyms": [ + "Liebenberg syndrome", + "brachydactyly with joint dysplasia", + "carpal synostosis with dysplastic elbow joints and brachydactyly" + ] + }, + { + "gard_id": "GARD:0000967", + "name": "Brachydactyly with hypertension", + "synonyms": [ + "Brachydactyly type E with short stature and hypertension", + "HTNB", + "Bilginturan syndrome" + ] + }, + { + "gard_id": "GARD:0000968", + "name": "Brachydactyly long thumb type", + "synonyms": [ + "Long-thumb brachydactyly syndrome" + ] + }, + { + "gard_id": "GARD:0000971", + "name": "Biemond syndrome", + "synonyms": [ + "Brachydactyly, nystagmus and cerebellar ataxia", + "Brachydactyly - nystagmus - cerebellar ataxia", + "Brachydactyly-nystagmus-cerebellar ataxia syndrome" + ] + }, + { + "gard_id": "GARD:0000972", + "name": "Brachydactyly preaxial with hallux varus and thumb abduction", + "synonyms": [ + "Dominant preaxial brachydactyly with hallux varus and thumb abduction" + ] + }, + { + "gard_id": "GARD:0000974", + "name": "Brachydactyly small stature face anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0000977", + "name": "Brachydactyly tibial hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0000978", + "name": "Brachydactyly type A1", + "synonyms": [ + "BDA1", + "Brachydactyly Farabee type" + ] + }, + { + "gard_id": "GARD:0000979", + "name": "Brachydactyly type A2", + "synonyms": [ + "BDA2", + "Mohr-Wriedt type brachydactyly", + "Brachymesophalangy 2" + ] + }, + { + "gard_id": "GARD:0000982", + "name": "Brachydactyly type A5", + "synonyms": [ + "Absent middle phalanges of digits 2-5 with nail dysplasia", + "Brachydactyly with absence of middle phalanges and hypoplastic nails", + "Brachydactyly type A5 nail dysplasia" + ] + }, + { + "gard_id": "GARD:0000983", + "name": "Brachydactyly type A6", + "synonyms": [ + "BDA6", + "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities", + "Osebold-Remondini syndrome" + ] + }, + { + "gard_id": "GARD:0000984", + "name": "Brachydactyly type A7", + "synonyms": [ + "Brachydactyly Smorgasbord type" + ] + }, + { + "gard_id": "GARD:0000985", + "name": "Brachydactyly type B", + "synonyms": null + }, + { + "gard_id": "GARD:0000986", + "name": "Brachydactyly type C", + "synonyms": [ + "BDC", + "Brachydactyly Haws type" + ] + }, + { + "gard_id": "GARD:0000987", + "name": "Brachydactyly type E", + "synonyms": [ + "Type E brachydactyly" + ] + }, + { + "gard_id": "GARD:0000988", + "name": "Brachymesomelia renal syndrome", + "synonyms": [ + "Severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities" + ] + }, + { + "gard_id": "GARD:0000989", + "name": "Brachymesophalangy type 2", + "synonyms": null + }, + { + "gard_id": "GARD:0000990", + "name": "Brachydactyly type A4", + "synonyms": [ + "BDA4", + "Brachydactyly Temtamy type", + "Temtamy type brachydactyly", + "Brachymesophalangy II and V" + ] + }, + { + "gard_id": "GARD:0000992", + "name": "Brachymetapody anodontia hypotrichosis albinoidism", + "synonyms": null + }, + { + "gard_id": "GARD:0000994", + "name": "Spondyloepiphyseal dysplasia Maroteaux type", + "synonyms": [ + "Brachyolmia Maroteaux type", + "Brachyolmia type 2", + "SED, Maroteaux type", + "Pseudo-Morquio syndrome type 2", + "Spondyloepiphyseal dysplasia, Maroteaux type" + ] + }, + { + "gard_id": "GARD:0000998", + "name": "Braddock Jones Superneau syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001001", + "name": "Branchial arch defects", + "synonyms": null + }, + { + "gard_id": "GARD:0001002", + "name": "Branchial arch syndrome X-linked", + "synonyms": [ + "Mandibulofacial dysostosis Toriello type", + "MFD Toriello type" + ] + }, + { + "gard_id": "GARD:0001017", + "name": "Osteogenesis imperfecta", + "synonyms": [ + "OI", + "Brittle bone disease", + "Vrolik disease", + "Fragilitas ossium", + "Lobstein disease", + "Osteopsathyrosis", + "Porak and Durante disease" + ] + }, + { + "gard_id": "GARD:0001018", + "name": "Brittle bone syndrome lethal type", + "synonyms": null + }, + { + "gard_id": "GARD:0001019", + "name": "Brittle cornea syndrome", + "synonyms": [ + "EDS VIB (formerly)", + "Ehlers-Danlos syndrome type 6B (formerly)", + "Fragilitas oculi with joint hyperextensibility", + "Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility", + "Dysgenesis mesodermalis corneae et sclerae" + ] + }, + { + "gard_id": "GARD:0001023", + "name": "Bronchiectasis oligospermia", + "synonyms": null + }, + { + "gard_id": "GARD:0001025", + "name": "Bronchogenic cyst", + "synonyms": null + }, + { + "gard_id": "GARD:0001026", + "name": "Amyloidosis bronchopulmonary", + "synonyms": null + }, + { + "gard_id": "GARD:0001029", + "name": "Bruck syndrome 1", + "synonyms": [ + "Osteogenesis imperfecta with congenital joint contractures", + "BRKS1" + ] + }, + { + "gard_id": "GARD:0001030", + "name": "Brugada syndrome", + "synonyms": [ + "Right bundle branch block, ST segment elevation, and sudden death syndrome", + "Sudden unexpected nocturnal death syndrome" + ] + }, + { + "gard_id": "GARD:0001033", + "name": "X-linked agammaglobulinemia", + "synonyms": [ + "Bruton type agammaglobulinemia", + "Bruton's agammaglobulinemia", + "XLA", + "Agammaglobulinemia, BTK", + "Agammaglobulinemia, Bruton tyrosine kinase", + "BTK-deficiency" + ] + }, + { + "gard_id": "GARD:0001034", + "name": "Bruyn Scheltens syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001037", + "name": "Primary basilar impression", + "synonyms": [ + "Bull-Nixon syndrome", + "Basilar impression, primary" + ] + }, + { + "gard_id": "GARD:0001038", + "name": "Bullous dystrophy hereditary macular type", + "synonyms": [ + "Epidermolysis bullosa macular type", + "EBM" + ] + }, + { + "gard_id": "GARD:0001039", + "name": "Epidermolytic ichthyosis", + "synonyms": [ + "EHK", + "Congenital bullous ichthyosiform erythroderma", + "Bullous congenital ichthyosiform erythroderma", + "BCIE", + "Bullous ichthyosiform erythroderma congenita", + "Bullous ichthyosiform erythroderma", + "Bullous erythroderma ichthyosiformis congenita of Brocq", + "epidermolytic hyperkeratosis" + ] + }, + { + "gard_id": "GARD:0001041", + "name": "Burn Goodship syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001044", + "name": "Buschke-Ollendorff syndrome", + "synonyms": [ + "Dermatoosteopoikilosis", + "BOS", + "Dermatofibrosis, disseminated with osteopoikilosis", + "Dermatofibrosis lenticularis disseminata with osteopoikilosis", + "Osteopathia condensans disseminata" + ] + }, + { + "gard_id": "GARD:0001045", + "name": "Bustos Simosa Pinto Cisternas syndrome", + "synonyms": [ + "Autosomal recessive ectodermal dysplasia", + "Ectodermal dysplasia type 4", + "ED4", + "Ectodermal dysplasia Margarita island type" + ] + }, + { + "gard_id": "GARD:0001049", + "name": "CADASIL", + "synonyms": [ + "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", + "Dementia, hereditary multi-infarct type", + "Familial vascular leukoencephalopathy", + "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy", + "CASIL" + ] + }, + { + "gard_id": "GARD:0001051", + "name": "Caffey disease", + "synonyms": [ + "Infantile cortical hyperostosis" + ] + }, + { + "gard_id": "GARD:0001053", + "name": "Limited cutaneous systemic sclerosis", + "synonyms": [ + "Limited cutaneous systemic scleroderma", + "CREST syndrome" + ] + }, + { + "gard_id": "GARD:0001055", + "name": "Calloso-genital dysplasia", + "synonyms": [ + "Primary amenorrhoea with coloboma and total agenesis of the corpus callosum" + ] + }, + { + "gard_id": "GARD:0001057", + "name": "Limb-girdle muscular dystrophy type 2A", + "synonyms": [ + "LGMD2A", + "Calpainopathy", + "Limb-girdle muscular dystrophy type 2", + "LGMD2", + "Muscular dystrophy, pelvofemoral", + "Leyden-Moebius muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0001058", + "name": "Calvarial hyperostosis", + "synonyms": [ + "Isolated hyperostosis of the calvarium" + ] + }, + { + "gard_id": "GARD:0001061", + "name": "Campomelia Cumming type", + "synonyms": [ + "Cervical lymphocele with bowed long bones", + "Cumming syndrome", + "Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys" + ] + }, + { + "gard_id": "GARD:0001062", + "name": "Camptobrachydactyly", + "synonyms": [ + "Short foot/brachydactyly of toes, camptodactyly , brachydactyly" + ] + }, + { + "gard_id": "GARD:0001063", + "name": "Camptocormism", + "synonyms": [ + "Camptocormia", + "Bent spine", + "Bent Spine Syndrome", + "Idiopathic camptocormia", + "Idiopathic camptocormism", + "Idiopathic progressive lumbar kyphosis" + ] + }, + { + "gard_id": "GARD:0001064", + "name": "Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0001067", + "name": "Camptodactyly syndrome Guadalajara type 1", + "synonyms": [ + "GCS 1", + "FTSS", + "Faciothoracoskeletal syndrome" + ] + }, + { + "gard_id": "GARD:0001068", + "name": "Camptodactyly syndrome Guadalajara type 2", + "synonyms": [ + "Guadalajara camptodactyly syndrome type II" + ] + }, + { + "gard_id": "GARD:0001069", + "name": "Camptodactyly taurinuria", + "synonyms": [ + "Camptodactyly with Taurinuria", + "Camptodactyly-taurinuria", + "Camptodactyly-taurinuria syndrome", + "Familial streblodactyly with amino-aciduria" + ] + }, + { + "gard_id": "GARD:0001070", + "name": "Camptodactyly vertebral fusion", + "synonyms": [ + "Camptodactyly and sacral vertebral fusion (subtype)" + ] + }, + { + "gard_id": "GARD:0001071", + "name": "Camptomelic syndrome long limb type", + "synonyms": [ + "Campomelic syndrome long limb type" + ] + }, + { + "gard_id": "GARD:0001072", + "name": "Camurati-Engelmann disease", + "synonyms": [ + "CED", + "Diaphyseal dysplasia 1, progressive", + "DPD1", + "Engelmann disease", + "Progressive diaphyseal dysplasia", + "PDD" + ] + }, + { + "gard_id": "GARD:0001076", + "name": "Systemic candidiasis", + "synonyms": [ + "Systemic candida infections", + "Invasive Candidiasis" + ] + }, + { + "gard_id": "GARD:0001077", + "name": "Autosomal recessive candidiasis familial chronic mucocutaneous", + "synonyms": [ + "Familial chronic mucocutaneous candidiasis", + "CARD9 deficiency", + "Predisposition to invasive fungal disease due to CARD9 deficiency", + "Invasive candidiasis-deep dermatophytosis syndrome" + ] + }, + { + "gard_id": "GARD:0001078", + "name": "Cantalamessa Baldini Ambrosi syndrome", + "synonyms": [ + "Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" + ] + }, + { + "gard_id": "GARD:0001081", + "name": "Cantu Sanchez-Corona Fragoso syndrome", + "synonyms": [ + "Severe mental deficiency proportionate dwarfism and delayed sexual maturation" + ] + }, + { + "gard_id": "GARD:0001082", + "name": "Cantu Sanchez-Corona Garcia-Cruz syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001083", + "name": "Cantu Sanchez-Corona Hernandez syndrome", + "synonyms": [ + "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" + ] + }, + { + "gard_id": "GARD:0001084", + "name": "Systemic capillary leak syndrome", + "synonyms": [ + "SCLS", + "Clarkson disease", + "Capillary leak syndrome", + "Capillary leak syndrome with monoclonal gammopathy", + "Periodic systemic capillary leak syndrome" + ] + }, + { + "gard_id": "GARD:0001089", + "name": "Universal acquired melanosis", + "synonyms": [ + "Carbon baby syndrome" + ] + }, + { + "gard_id": "GARD:0001093", + "name": "Progressive familial heart block type 1A", + "synonyms": [ + "Heart block progressive familial type 1", + "PFHB1A" + ] + }, + { + "gard_id": "GARD:0001094", + "name": "Cardiac diverticulum", + "synonyms": null + }, + { + "gard_id": "GARD:0001096", + "name": "X-linked cardiac valvular dysplasia", + "synonyms": [ + "CVD1", + "Valvular heart disease, congenital", + "Myxomatous valvular dystrophy, X-linked", + "XMVD", + "FLNA-related X-linked myxomatous valvular dysplasia", + "FLNA-related valvular dystrophy", + "Filamin A-related X-linked myxomatous valvular dysplasia", + "Dystrophie valvulaire associée à FLNA" + ] + }, + { + "gard_id": "GARD:0001097", + "name": "Cardiofacial syndrome short limbs", + "synonyms": null + }, + { + "gard_id": "GARD:0001099", + "name": "Cardiomelic syndrome Stratton Koehler type", + "synonyms": null + }, + { + "gard_id": "GARD:0001100", + "name": "LEOPARD syndrome", + "synonyms": [ + "Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes", + "Multiple lentigines syndrome", + "Cardiomyopathic lentiginosis", + "Noonan syndrome with multiple lentigines" + ] + }, + { + "gard_id": "GARD:0001102", + "name": "Cardiomyopathy cataract hip spine disease", + "synonyms": [ + "Familial dilated cardiomyopathy associated with cataracts and hip-spine disease", + "Krasnow Qazi syndrome", + "Krasnow Qazi Yermakov syndrome" + ] + }, + { + "gard_id": "GARD:0001103", + "name": "Cardiomyopathy diabetes deafness", + "synonyms": null + }, + { + "gard_id": "GARD:0001104", + "name": "Cardiomyopathy dilated with conduction defect type 1", + "synonyms": null + }, + { + "gard_id": "GARD:0001107", + "name": "Cardiomyopathy due to anthracyclines", + "synonyms": null + }, + { + "gard_id": "GARD:0001108", + "name": "Cardiomyopathy and deafness due to tRNA lysine gene mutation", + "synonyms": [ + "Cardiomyopathy and deafness due to MTTK gene mutation" + ] + }, + { + "gard_id": "GARD:0001109", + "name": "Cardiomyopathy hypogonadism metabolic anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0001110", + "name": "Cardiomyopathy spherocytosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001113", + "name": "Fatal infantile encephalomyopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0001117", + "name": "Carnevale Hernandez Castillo syndrome", + "synonyms": [ + "Triphalyngeal thumbs and brachyectrodactyly" + ] + }, + { + "gard_id": "GARD:0001118", + "name": "3MC syndrome", + "synonyms": [ + "Craniofacial-ulnar-renal syndrome", + "Malpuech-Michels-Mingarelli-Carnevale syndrome" + ] + }, + { + "gard_id": "GARD:0001119", + "name": "Carney complex", + "synonyms": [ + "Carney syndrome", + "CNC1", + "Carney myxoma-endocrine complex", + "CAR", + "Myxoma, spotty pigmentation, and endocrine overactivity", + "NAME syndrome", + "LAMB syndrome", + "Myxoma - spotty pigmentation - endocrine overactivity", + "Myxoma-spotty pigmentation-endocrine overactivity syndrome" + ] + }, + { + "gard_id": "GARD:0001120", + "name": "Carnitine palmitoyl transferase 1A deficiency", + "synonyms": [ + "Carnitine palmitoyltransferase 1A deficiency", + "CPT1A deficiency", + "Hepatic CPT1", + "Hepatic carnitine palmitoyltransferase 1 deficiency", + "L-CPT 1 deficiency", + "Carnitine palmitoyl transferase IA deficiency", + "Hepatic carnitine palmitoyl transferase 1 deficiency", + "Hepatic carnitine palmitoyl transferase I deficiency", + "L-CPT1 deficiency", + "L-CPTI deficiency" + ] + }, + { + "gard_id": "GARD:0001121", + "name": "Carnitine palmitoyltransferase 2 deficiency", + "synonyms": [ + "Carnitine palmitoyltransferase deficiency type 2", + "CPT2", + "Carnitine palmitoyltransferase II (CPT II) deficiency" + ] + }, + { + "gard_id": "GARD:0001123", + "name": "Carnitine-acylcarnitine translocase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0001128", + "name": "Carpotarsal osteochondromatosis", + "synonyms": [ + "Dominant carpotarsal osteochondromatosis", + "Dysplasia epiphysealis hemimelica with chondromas and osteochondromas", + "Maroteaux Le Merrer Bensahel syndrome" + ] + }, + { + "gard_id": "GARD:0001129", + "name": "Carpo tarsal osteolysis recessive", + "synonyms": null + }, + { + "gard_id": "GARD:0001130", + "name": "Chronic eosinophilic pneumonia", + "synonyms": [ + "Eosinophilic idiopathic chronic pneumopathy", + "Chronic idiopathic eosinophilic pneumonia", + "Carrington's pulmonary eosinophilia", + "Carrington's Disease", + "Carrington syndrome", + "Idiopathic eosinophilic chronic pneumopathy", + "Idiopathic chronic eosinophilic pneumonia" + ] + }, + { + "gard_id": "GARD:0001132", + "name": "Cartwright Nelson Fryns syndrome", + "synonyms": [ + "Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails" + ] + }, + { + "gard_id": "GARD:0001133", + "name": "Stocco dos Santos syndrome", + "synonyms": [ + "X-linked intellectual disability, Stocco Dos Santos type" + ] + }, + { + "gard_id": "GARD:0001139", + "name": "Autosomal recessive palmoplantar keratoderma and congenital alopecia", + "synonyms": [ + "Cataract, alopecia, sclerodactyly syndrome", + "CASS", + "Cataract, alopecia, sclerodactyly" + ] + }, + { + "gard_id": "GARD:0001140", + "name": "Early-onset anterior polar cataract", + "synonyms": [ + "Cataract anterior polar", + "Cataract 24, anterior polar", + "Cataract, Anterior Polar, 2", + "Early-onset anterior subcapsular cataract" + ] + }, + { + "gard_id": "GARD:0001141", + "name": "Cataract ataxia deafness", + "synonyms": [ + "Cataract ataxia deafness syndrome", + "Polyneuropathy, cataract, deafness syndrome", + "Begeer syndrome", + "Cataract-ataxia-deafness-retardation syndrome" + ] + }, + { + "gard_id": "GARD:0001142", + "name": "Sengers syndrome", + "synonyms": [ + "Cardiomyopathy and cataract", + "Cataract and cardiomyopathy", + "cardiomyopathic mitochondrial DNA depletion syndrome 10", + "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" + ] + }, + { + "gard_id": "GARD:0001143", + "name": "Cataract congenital autosomal dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0001144", + "name": "Cataract congenital dominant non nuclear", + "synonyms": [ + "Autosomal dominant nonnuclear polymorphic congenital cataract", + "Cataract, polymorphic congenital", + "CCP", + "PCC" + ] + }, + { + "gard_id": "GARD:0001145", + "name": "Cataract and congenital ichthyosis", + "synonyms": [ + "Syndermotic cataract and congenital ichthyosis" + ] + }, + { + "gard_id": "GARD:0001146", + "name": "Cataract congenital Volkmann type", + "synonyms": [ + "CCV" + ] + }, + { + "gard_id": "GARD:0001150", + "name": "Cataract Hutterite type", + "synonyms": null + }, + { + "gard_id": "GARD:0001155", + "name": "Cataract microcornea syndrome", + "synonyms": [ + "Microcornea cataract syndrome" + ] + }, + { + "gard_id": "GARD:0001158", + "name": "Cataract skeletal anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0001159", + "name": "Cataract, total congenital", + "synonyms": [ + "CCT", + "Cataract, total congenital with posterior sutural opacities in Heterozygotes" + ] + }, + { + "gard_id": "GARD:0001160", + "name": "Cataract-glaucoma", + "synonyms": null + }, + { + "gard_id": "GARD:0001163", + "name": "Caudal appendage deafness", + "synonyms": [ + "Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation", + "Lynch Lee Murday syndrome" + ] + }, + { + "gard_id": "GARD:0001164", + "name": "Caudal duplication", + "synonyms": null + }, + { + "gard_id": "GARD:0001167", + "name": "Acrocardiofacial syndrome", + "synonyms": [ + "Cleft palate, Cardiac defect, Genital anomalies, and Ectrodactily", + "CCGE syndrome", + "Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome", + "ACFS", + "Acro-cardio-facial syndrome" + ] + }, + { + "gard_id": "GARD:0001174", + "name": "CDG syndrome type 4", + "synonyms": null + }, + { + "gard_id": "GARD:0001175", + "name": "CDK4 linked melanoma", + "synonyms": null + }, + { + "gard_id": "GARD:0001179", + "name": "Cennamo Gangemi syndrome", + "synonyms": [ + "Hydrocephalus cataract microphthalmos" + ] + }, + { + "gard_id": "GARD:0001187", + "name": "Cerebellar agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0001188", + "name": "Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss", + "synonyms": [ + "CAPOS", + "CAPOS syndrome", + "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss", + "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" + ] + }, + { + "gard_id": "GARD:0001189", + "name": "Cerebellar ataxia ectodermal dysplasia", + "synonyms": [ + "Ectodermal dysplasia and cerebellar ataxia", + "Cerebellar ataxia - ectodermal dysplasia", + "Cerebellar ataxia-ectodermal dysplasia syndrome" + ] + }, + { + "gard_id": "GARD:0001191", + "name": "Progressive external ophthalmoplegia, autosomal recessive 1 ", + "synonyms": [ + "Progressive external ophthalmoplegia with cerebellar ataxia infantile", + "Autosomal recessive progressive external ophthalmoplegia", + "Cerebellar ataxia infantile with progressive external ophthalmoplegia", + "arPEO" + ] + }, + { + "gard_id": "GARD:0001193", + "name": "Subacute cerebellar degeneration", + "synonyms": [ + "Cerebellar degeneration, subacute", + "SCD", + "Alcoholic cerebellar degeneration", + "Nutritional cerebellar degeneration" + ] + }, + { + "gard_id": "GARD:0001194", + "name": "Cerebellar hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0001195", + "name": "Cerebellar hypoplasia with endosteal sclerosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001196", + "name": "Cerebellar hypoplasia tapetoretinal degeneration", + "synonyms": null + }, + { + "gard_id": "GARD:0001198", + "name": "Cerebello-olivary atrophy", + "synonyms": [ + "Cerebelloolivary atrophy" + ] + }, + { + "gard_id": "GARD:0001199", + "name": "Cerebelloparenchymal disorder 3", + "synonyms": [ + "Autosomal recessive cerebelloparenchymal disorder type 3", + "Spinocerebellar ataxia, autosomal recessive 2", + "SCAR2", + "Cerebellar hypoplasia, nonprogressive Norman type", + "Cerebellar granular cell hypoplasia and mental retardation, congenital", + "CPDIII", + "CPD3" + ] + }, + { + "gard_id": "GARD:0001200", + "name": "Cerebellum agenesis hydrocephaly", + "synonyms": [ + "Hydrocephalus with cerebellar agenesis" + ] + }, + { + "gard_id": "GARD:0001201", + "name": "Cerebral calcification cerebellar hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0001202", + "name": "Cerebral calcifications opalescent teeth phosphaturia", + "synonyms": null + }, + { + "gard_id": "GARD:0001206", + "name": "Cerebral gigantism jaw cysts", + "synonyms": [ + "Cramer Niederdellmann syndrome" + ] + }, + { + "gard_id": "GARD:0001210", + "name": "Cerebro facio thoracic dysplasia", + "synonyms": [ + "Cerebrofaciothoracic dysplasia", + "Pascual-Castroviejo syndrome" + ] + }, + { + "gard_id": "GARD:0001217", + "name": "Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations", + "synonyms": [ + "Cerebroretinal vasculopathy, hereditary", + "CRV", + "Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena", + "RVCL", + "Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy", + "ADRVCL", + "Retinal vasculopathy and cerebral leukoencephalopathy", + "RVCL-S" + ] + }, + { + "gard_id": "GARD:0001218", + "name": "Neuronal ceroid lipofuscinosis 10 ", + "synonyms": [ + "CLN10", + "Ceroid lipofuscinosis neuronal Cathepsin D-deficient", + "Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency", + "CLN10 disease, congenital (subtype)", + "CLN10 disease, late infantile (subtype)", + "CLN10 disease, juvenile (subtype)", + "CLN10 disease, adult (subtype)", + "Cathepsin D deficiency" + ] + }, + { + "gard_id": "GARD:0001219", + "name": "Ceroid lipofuscinosis neuronal 1", + "synonyms": [ + "CLN1", + "CLN1 variable age at onset", + "Neuronal ceroid lipofuscinosis 1" + ] + }, + { + "gard_id": "GARD:0001220", + "name": "Neuronal ceroid lipofuscinosis 7", + "synonyms": [ + "CLN7", + "CLN7 disease, late infantile", + "CLN7 disease" + ] + }, + { + "gard_id": "GARD:0001222", + "name": "Autosomal dominant neuronal ceroid lipofuscinosis 4B", + "synonyms": [ + "CLN4B", + "Kuf's disease, autosomal dominant", + "Ceroid lipofuscinosis, neuronal, Parry type", + "Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant", + "Neuronal ceroid lipofuscinosis 4B", + "Adult neuronal ceroid lipofuscinosis 4B", + "Kuf's disease type B", + "CLN4B disease" + ] + }, + { + "gard_id": "GARD:0001223", + "name": "Neuronal ceroid lipofuscinosis 5", + "synonyms": [ + "CLN5", + "Neuronal ceroid lipofuscinosis Finnish variant", + "CLN5 disease, late infantile (subtype)", + "CLN5 disease, juvenile", + "CLN5 disease, adult" + ] + }, + { + "gard_id": "GARD:0001224", + "name": "Neuronal ceroid lipofuscinosis 6", + "synonyms": [ + "CLN6", + "Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant", + "CLN6 disease, late infantile (subtype)", + "CLN6 disease, adult Kufs type A (subtype)" + ] + }, + { + "gard_id": "GARD:0001226", + "name": "Cervical hypertrichosis peripheral neuropathy", + "synonyms": [ + "Hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" + ] + }, + { + "gard_id": "GARD:0001227", + "name": "Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction", + "synonyms": [ + "Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction", + "Frydman Cohen Ashkenazi syndrome" + ] + }, + { + "gard_id": "GARD:0001235", + "name": "Chaotic atrial tachycardia", + "synonyms": null + }, + { + "gard_id": "GARD:0001237", + "name": "Char syndrome", + "synonyms": [ + "CHAR", + "Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" + ] + }, + { + "gard_id": "GARD:0001240", + "name": "X-linked Charcot-Marie-Tooth disease type 4", + "synonyms": [ + "CMTX 4", + "Neuropathy, axonal motor-sensory with deafness and mental retardation", + "NAMSD", + "NADMR", + "Charcot-Marie-Tooth disease, X-linked recessive, 4", + "Charcot-Marie-Tooth disease with deafness and mental retardation", + "Cowchock syndrome" + ] + }, + { + "gard_id": "GARD:0001243", + "name": "X-linked Charcot-Marie-Tooth disease type 2", + "synonyms": [ + "CMTX 2", + "Charcot-Marie-Tooth disease, X-linked recessive, 2", + "Charcot Marie Tooth disease X-linked recessive 2", + "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2" + ] + }, + { + "gard_id": "GARD:0001244", + "name": "X-linked Charcot-Marie-Tooth disease type 3", + "synonyms": [ + "CMTX 3", + "Charcot Marie Tooth disease X-linked recessive 3", + "Charcot-Marie-Tooth disease, X-linked recessive, 3" + ] + }, + { + "gard_id": "GARD:0001245", + "name": "Charcot-Marie-Tooth disease type 1A", + "synonyms": [ + "Charcot-Marie-Tooth disease, demyelinating, type 1A", + "CMT 1A", + "Hereditary motor and sensory neuropathy 1A", + "HMSN 1A", + "Charcot Marie Tooth disease type 1A" + ] + }, + { + "gard_id": "GARD:0001246", + "name": "Charcot-Marie-Tooth disease type 1B", + "synonyms": [ + "Charcot-Marie-Tooth disease, demyelinating, Type 1B", + "CMT 1B", + "Hereditary motor and sensory neuropathy 1B", + "HMSN 1B", + "Peroneal muscular atrophy", + "Charcot Marie Tooth disease type 1B" + ] + }, + { + "gard_id": "GARD:0001247", + "name": "Charcot-Marie-Tooth disease type 1C", + "synonyms": [ + "CMT 1C", + "Charcot-Marie-Tooth disease, demyelinating, Type 1C", + "Charcot Marie Tooth disease type 1C" + ] + }, + { + "gard_id": "GARD:0001248", + "name": "Charcot-Marie-Tooth disease type 2A", + "synonyms": [ + "CMT 2A", + "Charcot-Marie-Tooth disease, axonal, Type 2A", + "Charcot-Marie-Tooth disease, neuronal, Type 2A", + "Hereditary motor and sensory neuropathy 2 A", + "HMSN IIA", + "Charcot Marie Tooth disease type 2A" + ] + }, + { + "gard_id": "GARD:0001249", + "name": "Charcot-Marie-Tooth disease type 2B2", + "synonyms": [ + "CMT 2B2", + "Charcot-Marie-Tooth disease, axonal, Type 2B2", + "Charcot-Marie-Tooth disease, neuronal, Type 2B2", + "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2", + "Charcot Marie Tooth disease type 2B2" + ] + }, + { + "gard_id": "GARD:0001250", + "name": "Charcot-Marie-Tooth disease type 2C", + "synonyms": [ + "CMT 2C", + "Charcot-Marie-Tooth disease, axonal, Type 2C", + "Hereditary motor and sensory neuropathy 2 C", + "HMSN 2 C", + "Charcot Marie Tooth disease type 2C" + ] + }, + { + "gard_id": "GARD:0001251", + "name": "Charcot-Marie-Tooth disease type 2D", + "synonyms": [ + "CMT 2D", + "Charcot-Marie-Tooth disease, axonal, Type 2D", + "Charcot-Marie-Tooth disease, neuronal, Type 2D", + "Charcot Marie Tooth disease type 2D" + ] + }, + { + "gard_id": "GARD:0001252", + "name": "Charcot-Marie-Tooth disease type 4A", + "synonyms": [ + "CMT4A", + "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive", + "Charcot Marie Tooth disease type 4A" + ] + }, + { + "gard_id": "GARD:0001253", + "name": "Charcot-Marie-Tooth disease type 4B1", + "synonyms": [ + "CMT 4B1", + "Charcot-Marie-Tooth disease, Type 4B", + "CMT 4B", + "Charcot Marie Tooth disease type 4B1" + ] + }, + { + "gard_id": "GARD:0001258", + "name": "X-linked Charcot-Marie-Tooth disease type 1", + "synonyms": [ + "CMTX", + "CMTX 1", + "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked", + "Hereditary motor and sensory neuropathy, X-linked", + "HMSN, X-linked", + "Charcot-Marie-Tooth disease, X-linked, 1", + "Charcot Marie Tooth disease X-linked 1", + "Charcot-Marie-Tooth neuropathy X type 1" + ] + }, + { + "gard_id": "GARD:0001261", + "name": "Charlie M syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001265", + "name": "Abdominal chemodectomas with cutaneous angiolipomas", + "synonyms": null + }, + { + "gard_id": "GARD:0001266", + "name": "Ho Kaufman Mcalister syndrome", + "synonyms": [ + "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet," + ] + }, + { + "gard_id": "GARD:0001274", + "name": "Chitayat Meunier Hodgkinson syndrome", + "synonyms": [ + "Robin sequence with facial and digital anomalies", + "Pierre Robin syndrome, faciodigital anomaly" + ] + }, + { + "gard_id": "GARD:0001277", + "name": "Chitty Hall Webb syndrome", + "synonyms": [ + "Bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay" + ] + }, + { + "gard_id": "GARD:0001280", + "name": "Primary sclerosing cholangitis", + "synonyms": [ + "Cholangitis, primary sclerosing", + "Sclerosing cholangitis" + ] + }, + { + "gard_id": "GARD:0001288", + "name": "Progressive familial intrahepatic cholestasis type 2", + "synonyms": [ + "PFIC2", + "Severe ABCB11 deficiency" + ] + }, + { + "gard_id": "GARD:0001289", + "name": "Progressive familial intrahepatic cholestasis type 3", + "synonyms": [ + "PFIC3", + "Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase", + "MDR3 deficiency" + ] + }, + { + "gard_id": "GARD:0001292", + "name": "Chondrocalcinosis 2", + "synonyms": [ + "CCAL2", + "Chondrocalcinosis familial articular", + "Familial articular chondrocalcinosis", + "Calcium pyrophosphate arthropathy", + "CPPDD", + "Familial Calcium pyrophosphate dihydrate deposition disease", + "Calcium gout", + "Calcium gout, familial", + "Calcium pyrophosphate arthropathy, familial", + "Pseudogout, familial" + ] + }, + { + "gard_id": "GARD:0001294", + "name": "Lethal recessive chondrodysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0001296", + "name": "Chondrodysplasia punctata 1, X-linked recessive", + "synonyms": [ + "Chondrodysplasia punctata 1 X-linked recessive", + "CDPX1", + "CPXR", + "Arylsulfatase E deficiency", + "Chondrodysplasia punctata, brachytelephalangic", + "Chondrodysplasia punctata brachytelephalangic" + ] + }, + { + "gard_id": "GARD:0001298", + "name": "Chondrodysplasia punctata Sheffield type", + "synonyms": null + }, + { + "gard_id": "GARD:0001299", + "name": "Chondrodysplasia situs inversus imperforate anus polydactyly", + "synonyms": [ + "Impossible syndrome" + ] + }, + { + "gard_id": "GARD:0001300", + "name": "Chondrodysplasia, Grebe type", + "synonyms": [ + "Acromesomelic dysplasia, Grebe type", + "Brazilian achondrogenesis", + "Grebe syndrome", + "Grebe chondrodysplasia", + "AMDG", + "Grebe dysplasia", + "Achondrogenesis type II (formerly)" + ] + }, + { + "gard_id": "GARD:0001301", + "name": "Ellis-Van Creveld syndrome", + "synonyms": [ + "Chondroectodermal dysplasia", + "Mesoectodermal dysplasia", + "Ellis Van Creveld syndrome", + "Mesodermic dysplasia" + ] + }, + { + "gard_id": "GARD:0001302", + "name": "Chondrodysplasia punctata, humero-metacarpal type", + "synonyms": null + }, + { + "gard_id": "GARD:0001303", + "name": "Chordoma", + "synonyms": null + }, + { + "gard_id": "GARD:0001305", + "name": "Benign hereditary chorea", + "synonyms": [ + "Chorea familial benign" + ] + }, + { + "gard_id": "GARD:0001306", + "name": "Choreoacanthocytosis amyotrophic", + "synonyms": null + }, + { + "gard_id": "GARD:0001309", + "name": "Choroid plexus cyst", + "synonyms": null + }, + { + "gard_id": "GARD:0001312", + "name": "Choroideremia hypopituitarism", + "synonyms": null + }, + { + "gard_id": "GARD:0001313", + "name": "Infantile choroidocerebral calcification syndrome", + "synonyms": [ + "Choroido-cerebral calcification syndrome with retardation" + ] + }, + { + "gard_id": "GARD:0001315", + "name": "Christian Demyer Franken syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001316", + "name": "Christian Johnson Angenieta syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001319", + "name": "Chromoblastomycosis", + "synonyms": [ + "Chromomycosis" + ] + }, + { + "gard_id": "GARD:0001320", + "name": "Ring chromosome 1", + "synonyms": [ + "Chromosome 1 ring", + "Ring 1", + "R1" + ] + }, + { + "gard_id": "GARD:0001322", + "name": "Ring chromosome 10", + "synonyms": [ + "Chromosome 10 ring", + "Ring 10", + "R10" + ] + }, + { + "gard_id": "GARD:0001323", + "name": "Chromosome 10p deletion", + "synonyms": [ + "Deletion 10p", + "Monosomy 10p", + "10p deletion", + "10p monosomy", + "Partial monosomy 10p" + ] + }, + { + "gard_id": "GARD:0001325", + "name": "Ring chromosome 12", + "synonyms": [ + "Chromosome 12 ring", + "Ring 12", + "R12" + ] + }, + { + "gard_id": "GARD:0001327", + "name": "Mosaic trisomy 14", + "synonyms": [ + "Mosaic trisomy chromosome 14", + "Trisomy 14 mosaicism" + ] + }, + { + "gard_id": "GARD:0001328", + "name": "Ring chromosome 15", + "synonyms": [ + "Chromosome 15 ring", + "Ring 15", + "R15" + ] + }, + { + "gard_id": "GARD:0001333", + "name": "Ring chromosome 19", + "synonyms": [ + "Chromosome 19 ring", + "Ring 19", + "R19" + ] + }, + { + "gard_id": "GARD:0001334", + "name": "Ring chromosome 20", + "synonyms": [ + "Chromosome 20 ring", + "Ring 20", + "R20", + "Ring chromosome 20 syndrome" + ] + }, + { + "gard_id": "GARD:0001336", + "name": "Ring chromosome 22", + "synonyms": [ + "Chromosome 22 ring", + "Ring 22", + "R22" + ] + }, + { + "gard_id": "GARD:0001339", + "name": "Ring chromosome 4", + "synonyms": [ + "Chromosome 4 ring", + "Ring 4", + "R4" + ] + }, + { + "gard_id": "GARD:0001340", + "name": "Chromosome 4q deletion", + "synonyms": [ + "Deletion 4q", + "Monosomy 4q", + "4q deletion", + "4q monosomy", + "Partial monosomy 4q" + ] + }, + { + "gard_id": "GARD:0001345", + "name": "Ring chromosome 7", + "synonyms": [ + "Chromosome 7 ring", + "Ring 7", + "R7" + ] + }, + { + "gard_id": "GARD:0001346", + "name": "Chromosome 7p deletion", + "synonyms": [ + "Deletion 7p", + "Monosomy 7p", + "7p deletion", + "7p monosomy", + "Partial monosomy 7p" + ] + }, + { + "gard_id": "GARD:0001347", + "name": "Ring chromosome 8", + "synonyms": [ + "Chromosome 8 ring", + "Ring 8", + "R8" + ] + }, + { + "gard_id": "GARD:0001348", + "name": "Ring chromosome 9", + "synonyms": [ + "Chromosome 9 ring", + "Ring 9", + "R9" + ] + }, + { + "gard_id": "GARD:0001352", + "name": "Chronic demyelinizing neuropathy with IgM monoclonal", + "synonyms": null + }, + { + "gard_id": "GARD:0001355", + "name": "Chronic polyradiculoneuritis", + "synonyms": null + }, + { + "gard_id": "GARD:0001356", + "name": "Neonatal Onset Multisystem Inflammatory disease", + "synonyms": [ + "CINCA syndrome", + "CINCA", + "Infantile Onset Multisystem Inflammatory Disease", + "IOMID", + "NOMID", + "Multisystem inflammatory disease, neonatal-onset", + "Prieur Griscelli syndrome", + "Chronic Infantile Neurological Cutaneous Articular syndrome" + ] + }, + { + "gard_id": "GARD:0001358", + "name": "Chudley Rozdilsky syndrome", + "synonyms": [ + "Chudley syndrome", + "Multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" + ] + }, + { + "gard_id": "GARD:0001359", + "name": "Chylous ascites", + "synonyms": [ + "Congenital chylous ascites" + ] + }, + { + "gard_id": "GARD:0001360", + "name": "Ciliary discoordination, due to random ciliary orientation", + "synonyms": null + }, + { + "gard_id": "GARD:0001361", + "name": "Ciliary dyskinesia, due to transposition of ciliary microtubules", + "synonyms": null + }, + { + "gard_id": "GARD:0001362", + "name": "Ciliary dyskinesia-bronchiectasis", + "synonyms": null + }, + { + "gard_id": "GARD:0001365", + "name": "Circumscribed cutaneous aplasia of the vertex", + "synonyms": null + }, + { + "gard_id": "GARD:0001366", + "name": "Circumscribed disseminated keratosis Jadassohn Lew type", + "synonyms": null + }, + { + "gard_id": "GARD:0001369", + "name": "Cleft hand absent tibia", + "synonyms": [ + "Aplasia of tibia with ectrodactyly", + "Tibial aplasia with split-hand/split-foot deformity", + "Ectrodactyly with aplasia of long bones", + "Split-hand/foot malformation with long bone deficiency", + "SHFLD" + ] + }, + { + "gard_id": "GARD:0001371", + "name": "Cleft lip and palate malrotation cardiopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0001375", + "name": "Cleft lip palate dysmorphism Kumar type", + "synonyms": null + }, + { + "gard_id": "GARD:0001381", + "name": "Cleft lip palate oligodontia syndactyly pili torti", + "synonyms": null + }, + { + "gard_id": "GARD:0001382", + "name": "Cleft lip palate pituitary deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0001383", + "name": "Cleft lip palate-tetraphocomelia", + "synonyms": null + }, + { + "gard_id": "GARD:0001386", + "name": "Cleft lower lip cleft lateral canthi chorioretinal", + "synonyms": null + }, + { + "gard_id": "GARD:0001388", + "name": "Cleft palate colobomata radial synostosis deafness", + "synonyms": null + }, + { + "gard_id": "GARD:0001389", + "name": "Cleft palate heart disease polydactyly absent tibia", + "synonyms": null + }, + { + "gard_id": "GARD:0001391", + "name": "Cleft palate lateral synechia syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001392", + "name": "Cleft palate short stature vertebral anomalies", + "synonyms": [ + "Mathieu-De Broca-Bony syndrome" + ] + }, + { + "gard_id": "GARD:0001393", + "name": "Cleft palate stapes fixation oligodontia", + "synonyms": null + }, + { + "gard_id": "GARD:0001394", + "name": "X-linked cleft palate and ankyloglossia", + "synonyms": [ + "CPX", + "X-linked cleft palate" + ] + }, + { + "gard_id": "GARD:0001395", + "name": "Cleft tongue", + "synonyms": [ + "Bifid tongue" + ] + }, + { + "gard_id": "GARD:0001402", + "name": "Thanatophoric dysplasia type 2", + "synonyms": [ + "Cloverleaf skull with thanatophoric dwarfism", + "Thanatophoric dysplasia with Kleeblattschaedel", + "TD2", + "Thanatophoric dysplasia type II", + "Thanatophoric dwarfism - cloverleaf skull", + "Thanatophoric dwarfism type 2", + "Cloverleaf skull-micromelic bone dysplasia syndrome", + "Thanatophoric dwarfism-cloverleaf skull syndrome" + ] + }, + { + "gard_id": "GARD:0001410", + "name": "COACH syndrome", + "synonyms": [ + "Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis", + "Joubert syndrome with congenital hepatic fibrosis", + "Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis", + "Gentile syndrome", + "Joubert syndrome with hepatic defect", + "JS-H" + ] + }, + { + "gard_id": "GARD:0001412", + "name": "Coarse face hypotonia constipation", + "synonyms": [ + "Sondheimer syndrome" + ] + }, + { + "gard_id": "GARD:0001413", + "name": "Cocaine antenatal exposure", + "synonyms": [ + "Fetal cocaine syndrome", + "Cocaine fetopathy", + "Prenatal cocaine exposure" + ] + }, + { + "gard_id": "GARD:0001415", + "name": "Cockayne syndrome type I", + "synonyms": [ + "Cockayne syndrome type A", + "Cockayne syndrome classical", + "Cockayne syndrome classic form" + ] + }, + { + "gard_id": "GARD:0001417", + "name": "Cockayne syndrome type III", + "synonyms": [ + "Cockayne syndrome type C", + "Cockayne syndrome type 3" + ] + }, + { + "gard_id": "GARD:0001418", + "name": "CODAS syndrome", + "synonyms": [ + "Cerebral, ocular, dental, auricular, and skeletal syndrome", + "Cerebro-oculo-dento-auriculo-skeletal syndrome" + ] + }, + { + "gard_id": "GARD:0001419", + "name": "Coenzyme Q cytochrome c reductase deficiency of", + "synonyms": null + }, + { + "gard_id": "GARD:0001420", + "name": "Cockayne syndrome type II", + "synonyms": [ + "Cockayne syndrome type B", + "Cockayne syndrome type 2", + "Cockayne syndrome type 2" + ] + }, + { + "gard_id": "GARD:0001421", + "name": "Cogan's syndrome", + "synonyms": [ + "Cogan syndrome" + ] + }, + { + "gard_id": "GARD:0001423", + "name": "Cohen Lockood Wyborney syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001425", + "name": "Cole Carpenter syndrome", + "synonyms": [ + "Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features" + ] + }, + { + "gard_id": "GARD:0001428", + "name": "Collins Pope syndrome", + "synonyms": [ + "Dislocation of the hip dysmorphism" + ] + }, + { + "gard_id": "GARD:0001429", + "name": "Collins Sakati syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001432", + "name": "Retinochoroidal coloboma", + "synonyms": [ + "Coloboma of choroid and retina", + "Retinal Coloboma", + "Choroidal coloboma" + ] + }, + { + "gard_id": "GARD:0001433", + "name": "Coloboma of eye lens", + "synonyms": null + }, + { + "gard_id": "GARD:0001434", + "name": "Coloboma of iris", + "synonyms": null + }, + { + "gard_id": "GARD:0001436", + "name": "Coloboma of macula", + "synonyms": [ + "Agenesis of macula", + "Macular coloboma", + "Hereditary macular coloboma (subtype)" + ] + }, + { + "gard_id": "GARD:0001437", + "name": "Coloboma of macula with type B brachydactyly", + "synonyms": [ + "Apical dystrophy", + "Sorsby syndrome" + ] + }, + { + "gard_id": "GARD:0001438", + "name": "Coloboma of optic papilla", + "synonyms": null + }, + { + "gard_id": "GARD:0001439", + "name": "Coloboma porencephaly hydronephrosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001440", + "name": "Uveal coloboma-cleft lip and palate-intellectual disability", + "synonyms": [ + "Coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate", + "Coloboma-microphthalmos syndrome", + "Uveal coloboma-cleft lip/palate-mental retardation syndrome (formerly)" + ] + }, + { + "gard_id": "GARD:0001442", + "name": "Colobomata unilobar lung heart defect", + "synonyms": null + }, + { + "gard_id": "GARD:0001443", + "name": "Syndromic microphthalmia, type 3", + "synonyms": [ + "MCOPS3", + "Microphthalmia and esophageal atresia syndrome", + "Anophthalmia clinical with associated anomalies", + "Anophthalmia esophageal genital syndrome", + "AEG syndrome", + "Anophthalmia microphthalmia esophageal atresia", + "SOX2 anophthalmia syndrome", + "SOX2-related eye disorders" + ] + }, + { + "gard_id": "GARD:0001446", + "name": "Colonic atresia", + "synonyms": null + }, + { + "gard_id": "GARD:0001448", + "name": "Colver Steer Godman syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001449", + "name": "Combarros Calleja Leno syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001452", + "name": "Complement component 2 deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0001453", + "name": "Complement component receptor 1", + "synonyms": null + }, + { + "gard_id": "GARD:0001454", + "name": "Complete atrioventricular canal", + "synonyms": [ + "CAVC", + "Common atrioventricular canal", + "Complete atrioventricular septal defect" + ] + }, + { + "gard_id": "GARD:0001459", + "name": "Mitochondrial complex V deficiency", + "synonyms": [ + "Complex 5 mitochondrial respiratory chain deficiency" + ] + }, + { + "gard_id": "GARD:0001460", + "name": "Conductive deafness with malformed external ear", + "synonyms": [ + "Conductive deafness - malformed external ear", + "Mengel-Konigsmark syndrome", + "Ear deformity and conductive hearing loss", + "Familial congenital moderate neural hearing loss", + "Conductive hearing loss and malformed low-set ears" + ] + }, + { + "gard_id": "GARD:0001462", + "name": "Cone-rod dystrophy X-linked 2", + "synonyms": [ + "CORDX2", + "Cone dystrophy X-linked 2", + "COD2" + ] + }, + { + "gard_id": "GARD:0001463", + "name": "Cone-rod dystrophy amelogenesis imperfecta", + "synonyms": [ + "Jalili syndrome", + "Cone-rod dystrophy with amelogenesis imperfecta" + ] + }, + { + "gard_id": "GARD:0001465", + "name": "Congenital lipoid adrenal hyperplasia", + "synonyms": [ + "Lipoid congenital adrenal hyperplasia", + "Congenital adrenal hyperplasia lipoid", + "Lipoid CAH", + "CLAH", + "Congenital lipoid adrenal hyperplasia due to STAR deficency" + ] + }, + { + "gard_id": "GARD:0001467", + "name": "Congenital adrenal hyperplasia", + "synonyms": [ + "CAH" + ] + }, + { + "gard_id": "GARD:0001469", + "name": "17-alpha-hydroxylase deficiency", + "synonyms": [ + "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", + "Congenital adrenal hyperplasia type 5" + ] + }, + { + "gard_id": "GARD:0001471", + "name": "Congenital amputation", + "synonyms": null + }, + { + "gard_id": "GARD:0001472", + "name": "Congenital aneurysms of the great vessels", + "synonyms": null + }, + { + "gard_id": "GARD:0001473", + "name": "Congenital articular rigidity", + "synonyms": null + }, + { + "gard_id": "GARD:0001474", + "name": "Congenital benign spinal muscular atrophy dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0001475", + "name": "Congenital bronchobiliary fistula", + "synonyms": null + }, + { + "gard_id": "GARD:0001477", + "name": "Congenital contractures", + "synonyms": null + }, + { + "gard_id": "GARD:0001478", + "name": "Congenital craniosynostosis maternal hyperthyroiditis", + "synonyms": null + }, + { + "gard_id": "GARD:0001479", + "name": "Congenital cystic eye multiple ocular and intracranial anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0001480", + "name": "Congenital cytomegalovirus", + "synonyms": [ + "Fetal cytomegalovirus syndrome" + ] + }, + { + "gard_id": "GARD:0001481", + "name": "Congenital diaphragmatic hernia", + "synonyms": [ + "CDH", + "Congenital diaphragmatic defect", + "Unilateral agenesis of diaphragm", + "Agenesis of hemidiaphragm" + ] + }, + { + "gard_id": "GARD:0001483", + "name": "Congenital heart disease ptosis hypodontia craniostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001484", + "name": "Congenital heart disease radio ulnar synostosis mental retardation", + "synonyms": null + }, + { + "gard_id": "GARD:0001486", + "name": "Congenital herpes simplex", + "synonyms": [ + "Congenital herpes simplex virus infection", + "Antenatal herpes simplex virus infection", + "Mother-to-child transmission of herpes simplex virus infection" + ] + }, + { + "gard_id": "GARD:0001487", + "name": "Congenital hypothyroidism", + "synonyms": [ + "Neonatal hypothyroidism" + ] + }, + { + "gard_id": "GARD:0001488", + "name": "Congenital hypotrichosis milia", + "synonyms": null + }, + { + "gard_id": "GARD:0001492", + "name": "Congenital megalo-ureter", + "synonyms": null + }, + { + "gard_id": "GARD:0001493", + "name": "Congenital mesoblastic nephroma", + "synonyms": null + }, + { + "gard_id": "GARD:0001495", + "name": "Congenital mitral malformation", + "synonyms": null + }, + { + "gard_id": "GARD:0001496", + "name": "Congenital mitral stenosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001497", + "name": "Congenital myxovirus", + "synonyms": null + }, + { + "gard_id": "GARD:0001498", + "name": "Congenital mumps", + "synonyms": null + }, + { + "gard_id": "GARD:0001500", + "name": "Congenital nephrotic syndrome Finnish type", + "synonyms": [ + "Nephrosis 1, congenital, Finnish type", + "Congenital nephrotic syndrome 1", + "Nephrosis, congenital", + "Finnish congenital nephrosis", + "NPHS1", + "CNF" + ] + }, + { + "gard_id": "GARD:0001502", + "name": "Short bowel syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001503", + "name": "Congenital femoral deficiency", + "synonyms": [ + "Congenital short femur (subtype)", + "Proximal femoral focal deficiency (subtype)" + ] + }, + { + "gard_id": "GARD:0001504", + "name": "Congenital stenosis of cervical medullary canal", + "synonyms": null + }, + { + "gard_id": "GARD:0001507", + "name": "Congenital unilateral pulmonary hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0001508", + "name": "Congenital vagal hyperreflexivity", + "synonyms": null + }, + { + "gard_id": "GARD:0001512", + "name": "Hereditary continuous muscle fiber activity", + "synonyms": null + }, + { + "gard_id": "GARD:0001513", + "name": "Continuous spike-wave during slow sleep syndrome", + "synonyms": [ + "Continuous spikes and waves during sleep", + "Continuous spikes and waves during slow-wave sleep", + "CSWS", + "CSWSS syndrome", + "Epileptic encephalopathy with continuous spike-and-wave during slow sleep" + ] + }, + { + "gard_id": "GARD:0001515", + "name": "Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay", + "synonyms": [ + "Contractures ectodermal dysplasia cleft lip palate", + "Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment", + "Ladda Zonana Ramer syndrome" + ] + }, + { + "gard_id": "GARD:0001516", + "name": "Tight skin contracture syndrome, lethal", + "synonyms": [ + "Hyperkeratosis-contracture syndrome", + "Restrictive dermopathy, lethal", + "Fetal hypokinesia sequence due to restrictive dermopathy" + ] + }, + { + "gard_id": "GARD:0001518", + "name": "Benign familial neonatal-infantile seizures", + "synonyms": [ + "BFNIS", + "Convulsions benign familial neonatal", + "Epilepsy, benign neonatal-infantile", + "Benign familial infantile convulsions" + ] + }, + { + "gard_id": "GARD:0001519", + "name": "Convulsions benign familial neonatal dominant form", + "synonyms": [ + "Benign familial neonatal seizures", + "Autosomal dominant form of benign neonatal seizures", + "Benign familial neonatal convulsions" + ] + }, + { + "gard_id": "GARD:0001521", + "name": "Menkes disease", + "synonyms": [ + "Menkes syndrome", + "Steely hair disease", + "Menkea syndrome", + "Kinky hair disease", + "Copper transport disease" + ] + }, + { + "gard_id": "GARD:0001522", + "name": "Copper deficiency, familial benign", + "synonyms": [ + "Familial benign copper deficiency", + "Familial benign hypocupremia" + ] + }, + { + "gard_id": "GARD:0001523", + "name": "Cormier Rustin Munnich syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001525", + "name": "Spinocerebellar degeneration and corneal dystrophy", + "synonyms": [ + "Corneal cerebellar syndrome", + "Spinocerebellar degeneration corneal dystrophy", + "Der kaloustian Jarudi Khoury syndrome" + ] + }, + { + "gard_id": "GARD:0001526", + "name": "Corneal crystals myopathy neuropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0001528", + "name": "Corneal dystrophy ichthyosis microcephaly mental retardation", + "synonyms": null + }, + { + "gard_id": "GARD:0001529", + "name": "Corneal dystrophy and perceptive deafness", + "synonyms": [ + "Congenital corneal dystrophy, progressive sensorineural deafness", + "Harboyan syndrome", + "CDPD", + "Corneal dystrophy and sensorineural deafness" + ] + }, + { + "gard_id": "GARD:0001530", + "name": "Corneal dystrophy pigmentary anomaly malabsorption", + "synonyms": null + }, + { + "gard_id": "GARD:0001531", + "name": "Corneodermatoosseous syndrome", + "synonyms": [ + "CDO syndrome", + "Corneal dystrophy, epithelial, with skin and skeletal changes", + "Corneal dystrophy epithelial and short stature", + "Stern Lubinsky Durrie syndrome" + ] + }, + { + "gard_id": "GARD:0001532", + "name": "Coronal synostosis, syndactyly and jejunal atresia", + "synonyms": [ + "Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia" + ] + }, + { + "gard_id": "GARD:0001533", + "name": "Coronaro-cardiac fistula", + "synonyms": null + }, + { + "gard_id": "GARD:0001534", + "name": "Coronary arteries congenital malformation", + "synonyms": null + }, + { + "gard_id": "GARD:0001535", + "name": "Corpus callosum agenesis", + "synonyms": [ + "Agenesis of the corpus callosum", + "Isolated corpus callosum agenesis", + "NON RARE IN EUROPE: Isolated corpus callosum agenesis" + ] + }, + { + "gard_id": "GARD:0001536", + "name": "Corpus callosum agenesis double urinary collecting", + "synonyms": [ + "Ben Ari-Shuper-Mimouni syndrome", + "Corpus callosum agenesis - double urinary collecting system", + "Corpus callosum agenesis-double urinary collecting system syndrome", + "OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome" + ] + }, + { + "gard_id": "GARD:0001537", + "name": "Andermann syndrome", + "synonyms": [ + "Charlevoix disease", + "Corpus callosum agenesis neuronopathy", + "Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum", + "Agenesis of corpus callosum with neuronopathy", + "ACCPN", + "Agenesis of corpus callosum with peripheral neuropathy", + "Agenesis of corpus callosum with polyneuropathy", + "Hereditary motor and sensory neuropathy with agenesis of the corpus callosum", + "HMSN/ACC" + ] + }, + { + "gard_id": "GARD:0001538", + "name": "Corpus callosum agenesis of blepharophimosis Robin type", + "synonyms": null + }, + { + "gard_id": "GARD:0001541", + "name": "Corpus callosum dysgenesis cleft spasm", + "synonyms": null + }, + { + "gard_id": "GARD:0001542", + "name": "Corpus callosum dysgenesis hypopituitarism", + "synonyms": null + }, + { + "gard_id": "GARD:0001543", + "name": "Corpus callosum dysgenesis X-linked recessive", + "synonyms": null + }, + { + "gard_id": "GARD:0001544", + "name": "Congenitally corrected transposition of the great arteries", + "synonyms": [ + "Transposition of the great arteries, congenitally corrected", + "Transposition of the great vessels, congenitally corrected", + "Congenitally corrected transposition of the great vessels" + ] + }, + { + "gard_id": "GARD:0001546", + "name": "Cortada Koussef Matsumoto syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001547", + "name": "Cortes Lacassie syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001548", + "name": "Cortical blindness-intellectual disability-polydactyly syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001550", + "name": "Costello syndrome", + "synonyms": [ + "Faciocutaneoskeletal syndrome", + "FCS syndrome" + ] + }, + { + "gard_id": "GARD:0001551", + "name": "Costocoracoid ligament congenitally short", + "synonyms": [ + "Congenital shortness of the costocoracoid ligament", + "Fixation of the scapula to the first rib by a congenitally short costocoracoid ligament" + ] + }, + { + "gard_id": "GARD:0001553", + "name": "Arthrogryposis and ectodermal dysplasia", + "synonyms": [ + "Alves syndrome", + "Trichooculodermovertebral syndrome", + "Tricho-oculo-dermo-vertebral syndrome", + "TODV syndrome", + "Alves-dos Santos-Castelo syndrome", + "Ectodermal dysplasia - cataracts - kyphoscoliosis", + "Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract" + ] + }, + { + "gard_id": "GARD:0001554", + "name": "Cote Katsantoni syndrome", + "synonyms": [ + "Ectodermal dysplasia osteosclerosis" + ] + }, + { + "gard_id": "GARD:0001555", + "name": "Cousin syndrome", + "synonyms": [ + "Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature", + "Pelviscapular dysplasia" + ] + }, + { + "gard_id": "GARD:0001558", + "name": "Coxoauricular syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001561", + "name": "Crandall syndrome", + "synonyms": [ + "Alopecia deafness hypogonadism" + ] + }, + { + "gard_id": "GARD:0001564", + "name": "Cranio osteoarthropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0001567", + "name": "Craniodiaphyseal dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0001570", + "name": "Craniofacial and skeletal defects", + "synonyms": null + }, + { + "gard_id": "GARD:0001571", + "name": "Craniofacial deafness hand syndrome", + "synonyms": [ + "CDHS", + "Features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss", + "Sommer-Young-Wee-Frye syndrome" + ] + }, + { + "gard_id": "GARD:0001573", + "name": "Craniofacial dysostosis arthrogryposis progeroid appearence", + "synonyms": [ + "Van Biervliet Hendrickx Van Ertbruggen syndrome" + ] + }, + { + "gard_id": "GARD:0001575", + "name": "Craniofacial dyssynostosis", + "synonyms": [ + "Craniosynostosis-craniofacial dysostosis syndrome", + "Craniofacial dyssynostosis and short stature" + ] + }, + { + "gard_id": "GARD:0001578", + "name": "Craniofrontonasal dysplasia", + "synonyms": [ + "Craniofrontonasal syndrome", + "CFNS", + "CFND", + "Craniofrontonasal dysostosis" + ] + }, + { + "gard_id": "GARD:0001579", + "name": "Craniofrontonasal syndrome Teebi type", + "synonyms": null + }, + { + "gard_id": "GARD:0001581", + "name": "Craniometaphyseal dysplasia, autosomal dominant", + "synonyms": [ + "CMDD", + "CMD", + "CMDJ", + "Craniometaphyseal dysplasia Jackson type" + ] + }, + { + "gard_id": "GARD:0001582", + "name": "Craniometaphyseal dysplasia, autosomal recessive type", + "synonyms": [ + "CMDR" + ] + }, + { + "gard_id": "GARD:0001583", + "name": "Craniomicromelic syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001584", + "name": "Craniostenosis cataract", + "synonyms": null + }, + { + "gard_id": "GARD:0001586", + "name": "Craniosynostosis alopecia brain defect", + "synonyms": null + }, + { + "gard_id": "GARD:0001587", + "name": "Craniosynostosis arthrogryposis cleft palate", + "synonyms": null + }, + { + "gard_id": "GARD:0001588", + "name": "Craniosynostosis autosomal dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0001590", + "name": "Craniosynostosis cleft lip palate arthrogryposis", + "synonyms": null + }, + { + "gard_id": "GARD:0001591", + "name": "Craniosynostosis contractures cleft", + "synonyms": null + }, + { + "gard_id": "GARD:0001592", + "name": "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus", + "synonyms": [ + "Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus", + "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", + "Braddock-Jones-Superneau syndrome" + ] + }, + { + "gard_id": "GARD:0001593", + "name": "Craniosynostosis exostoses nevus epibulbar dermoid", + "synonyms": null + }, + { + "gard_id": "GARD:0001595", + "name": "Craniosynostosis Fontaine type", + "synonyms": null + }, + { + "gard_id": "GARD:0001598", + "name": "Craniosynostosis Maroteaux Fonfria type", + "synonyms": null + }, + { + "gard_id": "GARD:0001601", + "name": "Craniosynostosis Philadelphia type", + "synonyms": null + }, + { + "gard_id": "GARD:0001602", + "name": "Baller-Gerold syndrome", + "synonyms": [ + "BGS", + "Craniosynostosis-radial aplasia syndrome", + "Craniosynostosis with radial defects" + ] + }, + { + "gard_id": "GARD:0001605", + "name": "Craniotelencephalic dysplasia", + "synonyms": [ + "Complex of anomalies involving the cranium and brain" + ] + }, + { + "gard_id": "GARD:0001607", + "name": "Crawfurd syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001608", + "name": "X-linked creatine deficiency", + "synonyms": [ + "Mental retardation , X-linked with seizures, short stature and midface hypoplasia", + "Mental retardation , X-linked, with creatine transport deficiency", + "X-linked creatine transporter deficiency", + "X-linked creatine deficiency syndrome", + "Creatine deficiency, X-linked" + ] + }, + { + "gard_id": "GARD:0001609", + "name": "Creeping myiasis", + "synonyms": null + }, + { + "gard_id": "GARD:0001610", + "name": "Cretinism athyreotic", + "synonyms": null + }, + { + "gard_id": "GARD:0001611", + "name": "Cold-induced sweating syndrome", + "synonyms": [ + "Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death", + "Crisponi syndrome", + "CNTF receptor-related disorders", + "Sohar-Crisponi syndrome", + "CISS" + ] + }, + { + "gard_id": "GARD:0001613", + "name": "Familial exudative vitreoretinopathy", + "synonyms": [ + "FEVR", + "Exudative vitreoretinopathy, familial", + "Criswick-Schepens syndrome" + ] + }, + { + "gard_id": "GARD:0001614", + "name": "Crome syndrome", + "synonyms": [ + "Congenital cataracts, renal tubular necrosis and encephalopathy in two sisters" + ] + }, + { + "gard_id": "GARD:0001616", + "name": "Crossed polydactyly type 1", + "synonyms": null + }, + { + "gard_id": "GARD:0001617", + "name": "Crossed polysyndactyly", + "synonyms": null + }, + { + "gard_id": "GARD:0001620", + "name": "Cryptogenic organizing pneumonia", + "synonyms": [ + "COP", + "Idiopathic bronchiolitis obliterans organizing pneumonia", + "Idiopathic BOOP" + ] + }, + { + "gard_id": "GARD:0001626", + "name": "Currarino triad", + "synonyms": [ + "Currarino syndrome", + "Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation" + ] + }, + { + "gard_id": "GARD:0001629", + "name": "Cutaneous larva migrans", + "synonyms": [ + "CLM", + "Dew itch", + "Creeping eruption", + "Ground itch" + ] + }, + { + "gard_id": "GARD:0001633", + "name": "Cutaneous photosensitivity and colitis, lethal", + "synonyms": [ + "Early cutaneous photosensitivity and severe colitis" + ] + }, + { + "gard_id": "GARD:0001635", + "name": "Cutis gyratum acanthosis nigricans craniosynostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001637", + "name": "Cutis laxa osteoporosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001638", + "name": "Cutis laxa, autosomal recessive type 2A", + "synonyms": [ + "ARCL2A", + "Cutis laxa with joint laxity and retarded development", + "Cutis laxa with growth and developmental delay", + "Cutis laxa with bone dystrophy", + "Cutis laxa, Debre type" + ] + }, + { + "gard_id": "GARD:0001639", + "name": "Cutis laxa, autosomal dominant", + "synonyms": [ + "ADCL", + "Autosomal dominant cutis laxa" + ] + }, + { + "gard_id": "GARD:0001641", + "name": "Cutis laxa, autosomal recessive type 2B", + "synonyms": [ + "Cutis laxa with progeroid features" + ] + }, + { + "gard_id": "GARD:0001643", + "name": "Cutis verticis gyrata", + "synonyms": null + }, + { + "gard_id": "GARD:0001644", + "name": "Cutis verticis gyrata mental deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0001646", + "name": "Cutler Bass Romshe syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001654", + "name": "Cystic medial necrosis of aorta", + "synonyms": [ + "Erdheim cystic medial necrosis of aorta", + "Erdheim disease" + ] + }, + { + "gard_id": "GARD:0001657", + "name": "Cytomegalic inclusion disease", + "synonyms": [ + "Cytomegalic inclusion body disease", + "CIBD", + "Giant cell inclusion disease" + ] + }, + { + "gard_id": "GARD:0001658", + "name": "Cytoplasmic body myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0001666", + "name": "Daish Hardman Lamont syndrome", + "synonyms": [ + "Hydrocephalus, tall stature, joint laxity and kyphoscoliosis", + "Hydrocephaly - tall stature - joint laxity" + ] + }, + { + "gard_id": "GARD:0001669", + "name": "Dandy-Walker malformation with postaxial polydactyly", + "synonyms": [ + "DWM with postaxial polydactyly", + "Pierquin syndrome" + ] + }, + { + "gard_id": "GARD:0001671", + "name": "Daneman Davy Mancer syndrome", + "synonyms": [ + "Multinodular goiter, cystic renal disease, and digital anomalies", + "MNG/CRD/DA", + "Multinodular goiter - cystic kidney - polydactyly", + "Thyroid-renal-digital anomalies" + ] + }, + { + "gard_id": "GARD:0001672", + "name": "Davenport Donlan syndrome", + "synonyms": [ + "Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis" + ] + }, + { + "gard_id": "GARD:0001680", + "name": "Frints De Smet Fabry Fryns syndrome", + "synonyms": [ + "Symbrachydactyly of the hand and foot" + ] + }, + { + "gard_id": "GARD:0001684", + "name": "Deafness conductive stapedial ear malformation facial palsy", + "synonyms": null + }, + { + "gard_id": "GARD:0001685", + "name": "DOOR syndrome", + "synonyms": [ + "Digitorenocerebral syndrome", + "Autosomal recessive deafness-onychodystrophy syndrome", + "Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", + "Deafness-onychoosteodystrophy-intellectual disability syndrome", + "DOORS syndrome" + ] + }, + { + "gard_id": "GARD:0001686", + "name": "Deafness craniofacial syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001687", + "name": "Deafness enamel hypoplasia nail defects", + "synonyms": [ + "Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects", + "Heimler syndrome", + "Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" + ] + }, + { + "gard_id": "GARD:0001688", + "name": "Deafness, epiphyseal dysplasia, short stature", + "synonyms": [ + "Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction", + "Deafness, femoral epiphyseal dysplasia, short stature and developmental delay", + "Chitty-Hall-Baraitser syndrome" + ] + }, + { + "gard_id": "GARD:0001689", + "name": "Deafness goiter stippled epiphyses", + "synonyms": null + }, + { + "gard_id": "GARD:0001691", + "name": "Deafness hypogonadism syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001692", + "name": "Deafness hypospadias metacarpal and metatarsal syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001693", + "name": "Deafness mesenteric diverticula of small bowel neuropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0001694", + "name": "Deafness mixed with perilymphatic Gusher, X-linked", + "synonyms": null + }, + { + "gard_id": "GARD:0001695", + "name": "Deafness nephritis anorectal malformation", + "synonyms": [ + "Dominant ano-rectal malformation, nephritis and nerve-deafness", + "Deafness - nephritis - ano-rectal malformation", + "Lowe Kohn Cohen syndrome" + ] + }, + { + "gard_id": "GARD:0001696", + "name": "Isolated growth hormone deficiency type 2", + "synonyms": [ + "IGHD2", + "Isolated growth hormone deficiency type II", + "IGHD II", + "Growth hormone deficiency, isolated autosomal dominant", + "Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" + ] + }, + { + "gard_id": "GARD:0001697", + "name": "DFNB1", + "synonyms": [ + "Connexin 26 deafness", + "GJB2-related deafness", + "Deafness nonsyndromic, Connexin 26 linked" + ] + }, + { + "gard_id": "GARD:0001698", + "name": "Deafness oligodontia syndrome", + "synonyms": [ + "Congenital profound sensorineural deafness and oligodontia", + "Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" + ] + }, + { + "gard_id": "GARD:0001701", + "name": "Deafness peripheral neuropathy arterial disease", + "synonyms": null + }, + { + "gard_id": "GARD:0001702", + "name": "Deafness progressive cataract autosomal dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0001705", + "name": "Congenital deafness with vitiligo and achalasia", + "synonyms": [ + "Deafness vitiligo achalasia" + ] + }, + { + "gard_id": "GARD:0001707", + "name": "Deafness X-linked, DFN3", + "synonyms": null + }, + { + "gard_id": "GARD:0001708", + "name": "Deafness, autosomal dominant nonsyndromic sensorineural 23", + "synonyms": [ + "DFNA 23" + ] + }, + { + "gard_id": "GARD:0001709", + "name": "Deafness, isolated, due to mitochondrial transmission", + "synonyms": null + }, + { + "gard_id": "GARD:0001710", + "name": "Deafness, neurosensory nonsyndromic recessive, DFN", + "synonyms": null + }, + { + "gard_id": "GARD:0001715", + "name": "Deafness, X-linked, DFN", + "synonyms": null + }, + { + "gard_id": "GARD:0001720", + "name": "Defective apolipoprotein B-100", + "synonyms": null + }, + { + "gard_id": "GARD:0001722", + "name": "Erythrokeratoderma ''en cocardes''", + "synonyms": [ + "Erythrokeratoderma \"en cocardes\"", + "Degos genodermatosis \"en cocardes\"", + "Erythrokeratoderma en cocardes (Degos syndrome)", + "Degos 'en cocarde' erythrokeratoderma" + ] + }, + { + "gard_id": "GARD:0001727", + "name": "Delayed membranous cranial ossification", + "synonyms": [ + "Gonzales-del Angel syndrome" + ] + }, + { + "gard_id": "GARD:0001732", + "name": "Chromosome 11p deletion", + "synonyms": [ + "Deletion 11p", + "Monosomy 11p", + "11p deletion", + "11p monosomy", + "Partial monosomy 11p" + ] + }, + { + "gard_id": "GARD:0001735", + "name": "Chromosome 11q deletion", + "synonyms": [ + "Deletion 11q", + "Monosomy 11q", + "11q deletion", + "11q monosomy", + "Partial monosomy 11q" + ] + }, + { + "gard_id": "GARD:0001738", + "name": "Chromosome 13q deletion", + "synonyms": [ + "Deletion 13q", + "Monosomy 13q", + "13q deletion", + "13q monosomy" + ] + }, + { + "gard_id": "GARD:0001746", + "name": "Chromosome 15q deletion", + "synonyms": [ + "Deletion 15q", + "Monosomy 15q", + "15q deletion", + "15q monosomy", + "Partial monosomy 15q" + ] + }, + { + "gard_id": "GARD:0001798", + "name": "Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0001799", + "name": "Delta-sarcoglycanopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0001802", + "name": "Demodicidosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001806", + "name": "Dentin dysplasia, coronal", + "synonyms": [ + "Coronal dentin dysplasia", + "Pulpal dysplasia", + "Pulp stones", + "Dentin dyspalsia, Shields type 2", + "DTDP2", + "DD-II", + "Dentin dysplasia type II" + ] + }, + { + "gard_id": "GARD:0001807", + "name": "Dentin dysplasia, type 1", + "synonyms": [ + "Radicular dentin dysplasia", + "Rootless teeth", + "DD-I", + "Dentin dysplasia type I", + "DTDP1" + ] + }, + { + "gard_id": "GARD:0001808", + "name": "Dentin dysplasia sclerotic bones", + "synonyms": [ + "Sclerotic bones with dentin dysplasia" + ] + }, + { + "gard_id": "GARD:0001810", + "name": "Der Kaloustian Mcintosh Silver syndrome", + "synonyms": [ + "Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" + ] + }, + { + "gard_id": "GARD:0001812", + "name": "Dermatocardioskeletal syndrome Boronne type", + "synonyms": null + }, + { + "gard_id": "GARD:0001813", + "name": "Dermatoleukodystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0001814", + "name": "Dermatoosteolysis Kirghizian type", + "synonyms": [ + "Kirghizian Dermatoosteolysis", + "Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" + ] + }, + { + "gard_id": "GARD:0001815", + "name": "Dermochondrocorneal dystrophy of François", + "synonyms": [ + "Dermochondrocorneal dystrophy", + "Francois syndrome", + "DCCD" + ] + }, + { + "gard_id": "GARD:0001816", + "name": "Dermoodontodysplasia", + "synonyms": [ + "Dermo-odonto-dysplasia" + ] + }, + { + "gard_id": "GARD:0001818", + "name": "Desbuquois syndrome", + "synonyms": [ + "DBQD", + "Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification", + "Desbuquois dysplasia" + ] + }, + { + "gard_id": "GARD:0001820", + "name": "Desmoid tumor", + "synonyms": [ + "Fibromatosis, familial infiltrative", + "FIF", + "Familial infiltrative fibromatosis", + "Desmoid disorder, hereditary", + "Aggressive fibromatosis", + "Desmoid type fibromatosis" + ] + }, + { + "gard_id": "GARD:0001823", + "name": "Developmental dysphasia familial", + "synonyms": [ + "Developmental language disorder", + "Specific language impairment" + ] + }, + { + "gard_id": "GARD:0001827", + "name": "Dextrocardia", + "synonyms": null + }, + { + "gard_id": "GARD:0001839", + "name": "Transient neonatal diabetes mellitus", + "synonyms": [ + "TNDM1", + "TNDM", + "DMTN", + "Diabetes mellitus, transient neonatal", + "Chromosome 6-associated transient diabetes mellitus", + "Diabetes mellitus, 6q24-related transient neonatal" + ] + }, + { + "gard_id": "GARD:0001840", + "name": "Diabetes persistent mullerian ducts", + "synonyms": null + }, + { + "gard_id": "GARD:0001843", + "name": "Diaphragmatic agenesis radial aplasia omphalocele", + "synonyms": null + }, + { + "gard_id": "GARD:0001846", + "name": "Diaphragmatic hernia exomphalos corpus callosum agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0001847", + "name": "Diaphragmatic hernia upper limb defects", + "synonyms": null + }, + { + "gard_id": "GARD:0001850", + "name": "Immunodysregulation, polyendocrinopathy and enteropathy X-linked", + "synonyms": [ + "IPEX syndrome", + "X-linked autoimmunity-allergic dysregulation syndrome", + "XLAAD", + "IDDM secretory diarrhea syndrome", + "DMSD", + "Autoimmunity-immunodeficiency syndrome x-linked", + "Diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked", + "Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy", + "Polyendocrinopathy, immune dysfunction and diarrhea x-linked", + "XPID" + ] + }, + { + "gard_id": "GARD:0001851", + "name": "Split spinal cord malformation", + "synonyms": [ + "Diastematomyelia", + "SSCM", + "Diplomyelia", + "Pseudodiplomyelia", + "Dimyelia", + "Split cord malformation", + "SCM type 1", + "Split cord malformation type 1" + ] + }, + { + "gard_id": "GARD:0001853", + "name": "Dibasic aminoaciduria 2", + "synonyms": null + }, + { + "gard_id": "GARD:0001854", + "name": "Dibasic aminoaciduria 1", + "synonyms": null + }, + { + "gard_id": "GARD:0001855", + "name": "Dicarboxylic aminoaciduria", + "synonyms": [ + "Glutamate-aspartate transport defect", + "Dicarboxylicaminoaciduria" + ] + }, + { + "gard_id": "GARD:0001857", + "name": "Die Smulders Droog Van Dijk syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001858", + "name": "Die Smulders Vles Fryns syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001859", + "name": "Diethylstilbestrol syndrome", + "synonyms": [ + "DES embryofetopathy", + "Diethylstilbestrol embryofetopathy", + "DES syndrome", + "Fetal diethylstilbestrol syndrome", + "Distilbene embryofetopathy", + "Antenatal diethylstilbestrol exposure", + "Diethylstilbestrol prenatal exposure" + ] + }, + { + "gard_id": "GARD:0001861", + "name": "Diffuse neonatal hemangiomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001862", + "name": "Diffuse palmoplantar keratoderma, Bothnian type", + "synonyms": [ + "PPKB", + "Palmoplantar keratoderma, Bothnian type" + ] + }, + { + "gard_id": "GARD:0001863", + "name": "Gastric duplication cysts", + "synonyms": null + }, + { + "gard_id": "GARD:0001870", + "name": "Diomedi Bernardi Placidi syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001872", + "name": "Diphallia", + "synonyms": [ + "Diphallus" + ] + }, + { + "gard_id": "GARD:0001873", + "name": "Diphallus rachischisis imperforate anus", + "synonyms": null + }, + { + "gard_id": "GARD:0001874", + "name": "Diphosphoglycerate mutase deficiency of erythrocyte", + "synonyms": null + }, + { + "gard_id": "GARD:0001875", + "name": "Diphtheria", + "synonyms": null + }, + { + "gard_id": "GARD:0001876", + "name": "Diprosopia", + "synonyms": null + }, + { + "gard_id": "GARD:0001878", + "name": "Chromosome 1, uniparental disomy 1q12 q21", + "synonyms": [ + "Mosaic trisomy 1q12 q21", + "Uniparental disomy 1q12 q21" + ] + }, + { + "gard_id": "GARD:0001883", + "name": "Dissecting cellulitis of the scalp", + "synonyms": null + }, + { + "gard_id": "GARD:0001886", + "name": "Late-onset distal myopathy, Markesbery-Griggs type", + "synonyms": [ + "ZASP-related myofibrillar myopathy" + ] + }, + { + "gard_id": "GARD:0001887", + "name": "Distal myopathy with vocal cord weakness", + "synonyms": [ + "Distal myopathy 2", + "Myopathy, distal, 2", + "MPD2" + ] + }, + { + "gard_id": "GARD:0001889", + "name": "Distal primary acidosis, familial", + "synonyms": null + }, + { + "gard_id": "GARD:0001890", + "name": "Distichiasis heart congenital anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0001891", + "name": "Distomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0001894", + "name": "DK phocomelia syndrome", + "synonyms": [ + "Phocomelia thrombocytopenia encephalocele and urogenital malformations", + "Von Voss Cherstvoy syndrome" + ] + }, + { + "gard_id": "GARD:0001895", + "name": "Dobrow syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001896", + "name": "Dominant cleft palate", + "synonyms": null + }, + { + "gard_id": "GARD:0001898", + "name": "Early-onset zonular cataract", + "synonyms": null + }, + { + "gard_id": "GARD:0001899", + "name": "Donnai-Barrow syndrome", + "synonyms": [ + "Faciooculoacousticorenal syndrome", + "DBS/FOAR syndrome", + "Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria" + ] + }, + { + "gard_id": "GARD:0001902", + "name": "Tyrosine hydroxylase deficiency", + "synonyms": [ + "Parkinsonism, infantile, autosomal recessive", + "Dystonia, DOPA responsive, autosomal recessive", + "DOPA responsive dystonia, autosomal recessive", + "Segawa syndrome, autosomal recessive", + "DYT/PARK-TH", + "Tyrosine hydroxylase-deficient dopa-responsive dystonia", + "DYT5b", + "TH-deficient DRD" + ] + }, + { + "gard_id": "GARD:0001903", + "name": "Dopamine beta hydroxylase deficiency", + "synonyms": [ + "Norepinephrine deficiency", + "Noradrenaline deficiency", + "Dopamine beta-hydroxylase deficiency, congenital" + ] + }, + { + "gard_id": "GARD:0001904", + "name": "Subcortical band heterotopia", + "synonyms": [ + "Double cortex syndrome", + "Double cortex", + "DC" + ] + }, + { + "gard_id": "GARD:0001905", + "name": "Double discordia", + "synonyms": [ + "Atrio-ventricular and ventriculo-arterial double discordia", + "Corrected transposition" + ] + }, + { + "gard_id": "GARD:0001906", + "name": "Double fingernail of fifth finger", + "synonyms": null + }, + { + "gard_id": "GARD:0001907", + "name": "Double outlet left ventricle", + "synonyms": null + }, + { + "gard_id": "GARD:0001908", + "name": "Double outlet right ventricle", + "synonyms": null + }, + { + "gard_id": "GARD:0001910", + "name": "Double uterus-hemivagina-renal agenesis", + "synonyms": [ + "Double uterus and obstructed hemivagina syndrome", + "Herlyn-Werner syndrome", + "Wunderlich syndrome", + "Obstructed hemivagina and ipsilateral renal anomaly", + "OHVIRA syndrome", + "Herlyn-Werner-Wunderlich syndrome" + ] + }, + { + "gard_id": "GARD:0001912", + "name": "Doyne honeycomb retinal dystrophy", + "synonyms": [ + "DHRD", + "Doyne honeycomb degeneration of retina", + "DHD" + ] + }, + { + "gard_id": "GARD:0001913", + "name": "Drachtman Weinblatt Sitarz syndrome", + "synonyms": [ + "Marrow hypoplasia associated with congenital neurologic anomalies" + ] + }, + { + "gard_id": "GARD:0001917", + "name": "Dermatitis herpetiformis ", + "synonyms": [ + "Duhring Brocq disease", + "Brocq-Duhring disease", + "Duhring's disease", + "DH", + "Duhring-Brocq disease" + ] + }, + { + "gard_id": "GARD:0001918", + "name": "Duker Weiss Siber syndrome", + "synonyms": [ + "Microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism" + ] + }, + { + "gard_id": "GARD:0001919", + "name": "Duodenal atresia tetralogy of Fallot", + "synonyms": null + }, + { + "gard_id": "GARD:0001923", + "name": "Chromosome 11q duplication", + "synonyms": [ + "Duplication 11q", + "Trisomy 11q", + "11q duplication", + "11q trisomy", + "Partial trisomy 11q", + "Partial duplication of the long arm of chromosome 11" + ] + }, + { + "gard_id": "GARD:0001926", + "name": "Chromosome 12q duplication", + "synonyms": [ + "Duplication 12q", + "Trisomy 12q", + "12q duplication", + "12q trisomy", + "Partial trisomy 12q" + ] + }, + { + "gard_id": "GARD:0001929", + "name": "Chromosome 13q duplication", + "synonyms": [ + "Duplication 13q", + "Trisomy 13q", + "13q duplication", + "13q trisomy", + "Partial trisomy 13q" + ] + }, + { + "gard_id": "GARD:0001975", + "name": "Duplication of urethra", + "synonyms": [ + "Urethral duplication" + ] + }, + { + "gard_id": "GARD:0001976", + "name": "Duplication of leg mirror foot", + "synonyms": null + }, + { + "gard_id": "GARD:0001977", + "name": "Duplication of the thumb unilateral biphalangeal", + "synonyms": null + }, + { + "gard_id": "GARD:0001983", + "name": "Dupont Sellier Chochillon syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0001984", + "name": "Dwarfism bluish sclerae", + "synonyms": null + }, + { + "gard_id": "GARD:0001985", + "name": "Dwarfism deafness retinitis pigmentosa", + "synonyms": null + }, + { + "gard_id": "GARD:0001986", + "name": "Dwarfism lethal type advanced bone age", + "synonyms": null + }, + { + "gard_id": "GARD:0001992", + "name": "Dwarfism thin bones multiple fractures", + "synonyms": null + }, + { + "gard_id": "GARD:0001993", + "name": "Dykes Markes Harper syndrome", + "synonyms": [ + "Ichthyosis, hepatosplenomegaly, and cerebellar degeneration" + ] + }, + { + "gard_id": "GARD:0001994", + "name": "Dyschondrosteosis nephritis", + "synonyms": [ + "Mesomelic shortening and hereditary nephritis" + ] + }, + { + "gard_id": "GARD:0001996", + "name": "Dyschromatosis universalis hereditaria", + "synonyms": [ + "DUH" + ] + }, + { + "gard_id": "GARD:0001998", + "name": "Dysequilibrium syndrome", + "synonyms": [ + "DES", + "Cerebellar hypoplasia, VLDLR associated", + "VLDLRCH", + "Cerebellar disorder, nonprogressive, with mental retardation" + ] + }, + { + "gard_id": "GARD:0001999", + "name": "Congenital dyserythropoietic anemia", + "synonyms": [ + "Dyserythropoietic anemia, congenital" + ] + }, + { + "gard_id": "GARD:0002000", + "name": "Congenital dyserythropoietic anemia type 1", + "synonyms": [ + "CDA I", + "Dyserythropoietic anemia, congenital type 1", + "Anemia, dyserythropoietic, congenital type 1", + "Type I congenital dyserythropoietic anemia" + ] + }, + { + "gard_id": "GARD:0002001", + "name": "Congenital dyserythropoietic anemia type 2", + "synonyms": [ + "CDAN2", + "Anemia, dyserythropoietic, congenital type 2", + "CDA II", + "Dyserythropoietic anemia, HEMPAS type", + "HEMPAS anemia", + "Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test", + "CDA type II", + "Congenital dyserythropoietic anemia type II", + "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)", + "SEC23B-CDG" + ] + }, + { + "gard_id": "GARD:0002002", + "name": "Congenital dyserythropoietic anemia type 3", + "synonyms": [ + "Dyserythropoietic anemia, congenital type 3", + "CDA III" + ] + }, + { + "gard_id": "GARD:0002003", + "name": "Dysferlinopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0002004", + "name": "Dysfibrinogenemia", + "synonyms": [ + "Dysfibrinogenemia, familial", + "Congenital dysfibrinogenemia", + "Familial dysfibrinogenemia" + ] + }, + { + "gard_id": "GARD:0002005", + "name": "Central nervous system germinoma", + "synonyms": [ + "Intracranial germinoma", + "Germinoma of the central nervous system" + ] + }, + { + "gard_id": "GARD:0002007", + "name": "Dyskeratosis congenita X-linked", + "synonyms": [ + "X-linked Dyskeratosis congenita", + "DKCX" + ] + }, + { + "gard_id": "GARD:0002009", + "name": "Dysmorphism cleft palate loose skin", + "synonyms": null + }, + { + "gard_id": "GARD:0002012", + "name": "Dysosteosclerosis", + "synonyms": null + }, + { + "gard_id": "GARD:0002015", + "name": "Dysostosis peripheral", + "synonyms": [ + "Peripheral dysostosis" + ] + }, + { + "gard_id": "GARD:0002016", + "name": "Craniofacial dysostosis with diaphyseal hyperplasia", + "synonyms": [ + "Dysostosis Stanescu type", + "Stanescu osteosclerosis" + ] + }, + { + "gard_id": "GARD:0002019", + "name": "Dysplasia epiphysealis hemimelica", + "synonyms": [ + "Trevor disease" + ] + }, + { + "gard_id": "GARD:0002022", + "name": "Dysplastic cortical hyperostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0002025", + "name": "Dyssegmental dysplasia and glaucoma", + "synonyms": null + }, + { + "gard_id": "GARD:0002026", + "name": "Dyssegmental dysplasia Silverman-Handmaker type", + "synonyms": [ + "DDSH", + "Dyssegmental dwarfism Silverman-Handmaker type", + "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type" + ] + }, + { + "gard_id": "GARD:0002027", + "name": "DYT-TOR1A", + "synonyms": [ + "DYT1", + "Early onset torsion dystonia", + "EOTD", + "Dystonia musculorum deformans 1", + "Early-onset primary dystonia", + "Oppenheim's dystonia", + "Idiopathic dystonia DYT1", + "Idiopathic torsion dystonia", + "Dystonia 1, torsion, autosomal dominant", + "DYT-TOR1A dystonia", + "Dystonia 1", + "DYT1 Early-Onset Isolated Dystonia", + "Early-Onset Torsion Dystonia", + "Early-onset generalized dystonia" + ] + }, + { + "gard_id": "GARD:0002028", + "name": "Dystonia 2, torsion, autosomal recessive", + "synonyms": [ + "DYT2", + "Torsion dystonia 2", + "Torsion dystonia 2, autosomal recessive type", + "Dystonia musculorum deformans type 2" + ] + }, + { + "gard_id": "GARD:0002031", + "name": "Dystrophinopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0002032", + "name": "EAF", + "synonyms": [ + "Eosinophilic angiocentric fibrosis", + "Sinonasal eosinophilic angiocentric fibrosis" + ] + }, + { + "gard_id": "GARD:0002033", + "name": "Meier-Gorlin syndrome", + "synonyms": [ + "Ear, patella, short stature syndrome", + "Microtia, absent patellae, micrognathia syndrome" + ] + }, + { + "gard_id": "GARD:0002034", + "name": "Thickened earlobes-conductive deafness syndrome", + "synonyms": [ + "Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia", + "Schweitzer Kemink Graham syndrome", + "Escher-Hirt syndrome" + ] + }, + { + "gard_id": "GARD:0002035", + "name": "Ebola virus disease", + "synonyms": null + }, + { + "gard_id": "GARD:0002040", + "name": "Ectodermal dysplasia alopecia preaxial polydactyly", + "synonyms": [ + "Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance" + ] + }, + { + "gard_id": "GARD:0002042", + "name": "Ectodermal dysplasia arthrogryposis diabetes mellitus", + "synonyms": null + }, + { + "gard_id": "GARD:0002043", + "name": "Ectodermal dysplasia Bartalos type", + "synonyms": null + }, + { + "gard_id": "GARD:0002044", + "name": "Ectodermal dysplasia Berlin type", + "synonyms": null + }, + { + "gard_id": "GARD:0002045", + "name": "Ectodermal dysplasia blindness", + "synonyms": null + }, + { + "gard_id": "GARD:0002048", + "name": "Hypohidrotic ectodermal dysplasia autosomal dominant", + "synonyms": [ + "Ectodermal dysplasia hypohidrotic autosomal dominant" + ] + }, + { + "gard_id": "GARD:0002049", + "name": "Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia", + "synonyms": [ + "HEDH syndrome", + "Hypohidrotic ectodermal dysplasia with hypothyroidism", + "Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia", + "Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia", + "ANOTHER syndrome" + ] + }, + { + "gard_id": "GARD:0002050", + "name": "Ectodermal dysplasia Margarita type", + "synonyms": null + }, + { + "gard_id": "GARD:0002051", + "name": "Ectodermal dysplasia intellectual disability CNS malformation", + "synonyms": null + }, + { + "gard_id": "GARD:0002053", + "name": "Ectodermal dysplasia neurosensory deafness", + "synonyms": null + }, + { + "gard_id": "GARD:0002055", + "name": "Ectodermal dysplasia trichoodontoonychial type", + "synonyms": null + }, + { + "gard_id": "GARD:0002056", + "name": "Clouston syndrome", + "synonyms": [ + "ED2", + "Ectodermal dysplasia, hidrotic", + "HED", + "Autosomal dominant hidrotic ectodermal dysplasia", + "Hidrotic ectodermal dysplasia, autosomal dominant", + "Clouston syndrome", + "Clouston's hidrotic ectodermal dysplasia" + ] + }, + { + "gard_id": "GARD:0002057", + "name": "Hypohidrotic ectodermal dysplasia autosomal recessive", + "synonyms": [ + "Anhidrotic ectodermal dysplasia, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0002060", + "name": "Ectopia lentis, isolated autosomal recessive", + "synonyms": [ + "Autosomal recessive isolated ectopia lentis" + ] + }, + { + "gard_id": "GARD:0002063", + "name": "Ectrodactyly cardiopathy dysmorphism", + "synonyms": [ + "Ectrodactyly of lower limbs, congenital heart defect and characteristic facies", + "Van Den Ende Brunner syndrome" + ] + }, + { + "gard_id": "GARD:0002068", + "name": "Ectrodactyly polydactyly", + "synonyms": null + }, + { + "gard_id": "GARD:0002071", + "name": "Blepharo-cheilo-odontic syndrome", + "synonyms": [ + "Blepharo-cheilo-dontic syndrome", + "Blepharocheilodontic syndrome", + "BCD syndrome", + "Elschnig syndrome", + "Clefting, ectropion, and conical teeth", + "Lagophthalmia with bilateral cleft lip and palate", + "Blepharocheilodontic syndrome 1", + "Ectropion inferior cleft lip and or palate" + ] + }, + { + "gard_id": "GARD:0002074", + "name": "Edinburgh malformation syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002076", + "name": "EEC syndrome", + "synonyms": [ + "Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome", + "Rudiger syndrome 1", + "Walker-Clodius syndrome", + "Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate", + "Ectrodactyly-cleft lip/palate syndrome", + "Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome" + ] + }, + { + "gard_id": "GARD:0002078", + "name": "EEM syndrome", + "synonyms": [ + "Ectodermal dysplasia, ectrodactyly, and macular dystrophy", + "Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" + ] + }, + { + "gard_id": "GARD:0002081", + "name": "Hypermobile Ehlers-Danlos syndrome", + "synonyms": [ + "EDS3 (formerly)", + "Ehlers-Danlos syndrome type 3 (formerly)", + "Ehlers-Danlos syndrome, hypermobility type", + "Hypermobile EDS", + "hEDS" + ] + }, + { + "gard_id": "GARD:0002082", + "name": "Vascular Ehlers-Danlos syndrome", + "synonyms": [ + "Ehlers Danlos syndrome, ecchymotic type", + "Ehlers Danlos syndrome, arterial type", + "Ehlers Danlos syndrome, Sack-Barabas type", + "EDS4 (formerly)", + "Ehlers-Danlos syndrome type 4 (formerly)", + "EDS IV (formerly)", + "EDS type 4 (formerly)", + "Ehlers-Danlos syndrome type IV (formerly)", + "Sack-Barabas syndrome", + "Ehlers-Danlos syndrome, vascular type", + "Vascular EDS", + "vEDS", + "EDS IV", + "EDS type 4", + "Ehlers-Danlos syndrome type 4", + "Ehlers-Danlos syndrome type IV", + "Arterial-ecchymotic EDS" + ] + }, + { + "gard_id": "GARD:0002083", + "name": "Kyphoscoliotic Ehlers-Danlos syndrome", + "synonyms": [ + "Ehlers-danlos syndrome oculoscoliotic type", + "EDS 6 (formerly)", + "Ehlers-Danlos syndrome type 6 (formerly)", + "Nevo syndrome", + "EDS VIA", + "EDS, kyphoscoliotic type", + "EDS, oculoscoliotic type", + "Ehlers-Danlos syndrome type 6A (formerly)", + "Ehlers-Danlos syndrome, kyphoscoliotic type", + "Ehlers-Danlos syndrome, oculoscoliotic type", + "Ehlers-Danlos syndrome, kyphoscoliosis type", + "Kyphoscoliotic EDS", + "kEDS", + "Ehlers-Danlos syndrome type 6A", + "Cutis hyperelastica", + "kEDS-PLOD1", + "Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency", + "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency", + "Lysyl hydroxylase-deficient EDS", + "Ocular-scoliotic EDS" + ] + }, + { + "gard_id": "GARD:0002084", + "name": "Arthrochalasia Ehlers-Danlos syndrome", + "synonyms": [ + "Arthrochalasis multiplex congenita", + "Ehlers-Danlos syndrome type 7A (formerly)", + "EDS7A (formerly)", + "Arthrochalasia EDS", + "aEDS", + "Ehlers-Danlos syndrome, arthrochalasia type" + ] + }, + { + "gard_id": "GARD:0002088", + "name": "Classical Ehlers-Danlos syndrome", + "synonyms": [ + "Classic Ehlers-Danlos syndrome", + "Ehlers-Danlos syndrome type 1 (formerly)", + "Ehlers-Danlos syndrome type 2 (formerly)", + "Ehlers-Danlos syndrome, classic type" + ] + }, + { + "gard_id": "GARD:0002089", + "name": "Dermatosparaxis Ehlers-Danlos syndrome", + "synonyms": [ + "Dermatosparaxis", + "Ehlers-Danlos syndrome type 7C (formerly)", + "Ehlers-Danlos syndrome, dermatosparaxis type", + "Dermatosparaxis EDS", + "dEDS" + ] + }, + { + "gard_id": "GARD:0002092", + "name": "Ehrlichiosis", + "synonyms": [ + "Human Ehrlichiosis", + "HE" + ] + }, + { + "gard_id": "GARD:0002096", + "name": "Acrocephalopolydactyly", + "synonyms": [ + "Elejalde syndrome", + "Acrocephalopolydactylous dysplasia" + ] + }, + { + "gard_id": "GARD:0002098", + "name": "Ellis Yale Winter syndrome", + "synonyms": [ + "Microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis" + ] + }, + { + "gard_id": "GARD:0002099", + "name": "Emerinopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0002104", + "name": "Congenital lobar emphysema", + "synonyms": [ + "CLE", + "Emphysema, congenital lobar" + ] + }, + { + "gard_id": "GARD:0002106", + "name": "Enamel hypoplasia cataract hydrocephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0002108", + "name": "Encephalocraniocutaneous lipomatosis", + "synonyms": [ + "ECCL", + "Fishman syndrome", + "Haberland syndrome" + ] + }, + { + "gard_id": "GARD:0002109", + "name": "Encephalocele anencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0002113", + "name": "Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration", + "synonyms": [ + "Bonnemann Meinecke Reich syndrome" + ] + }, + { + "gard_id": "GARD:0002117", + "name": "Encephalopathy recurrent of childhood", + "synonyms": [ + "Neuhauser-Eichner-Opitz syndrome", + "Recurrent encephalophathy of childhood" + ] + }, + { + "gard_id": "GARD:0002124", + "name": "Engelhard Yatziv syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002125", + "name": "Glycogen storage disease type 13", + "synonyms": [ + "GSD13", + "Glycogen storage disease 13", + "Enolase-beta deficiency", + "Enolase 3 deficiency" + ] + }, + { + "gard_id": "GARD:0002130", + "name": "Enterovirus antenatal infection", + "synonyms": null + }, + { + "gard_id": "GARD:0002136", + "name": "Epidermal nevus vitamin D resistant rickets", + "synonyms": null + }, + { + "gard_id": "GARD:0002137", + "name": "Epidermolysa bullosa simplex with muscular dystrophy", + "synonyms": [ + "EBS-MD", + "MDEBS", + "MD-EBS", + "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", + "Epidermolysis bullosa simplex - limb girdle muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0002139", + "name": "Dominant dystrophic epidermolysis bullosa", + "synonyms": [ + "Dominant dystrophic epidermolysis bullosa, generalized", + "DDEB, generalized", + "DDEB-gen", + "Epidermolysis bullosa dystrophica, autosomal dominant", + "Dystrophic epidermolysis bullosa, autosomal dominant", + "Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)", + "Epidermolysis bullosa dystrophica, Pasini type (formerly)", + "Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types", + "DDEB, Pasini and Cockayne-Touraine types", + "Generalized dominant dystrophic epidermolysis bullosa" + ] + }, + { + "gard_id": "GARD:0002141", + "name": "Epidermolysis bullosa simplex, Dowling-Meara type", + "synonyms": [ + "EBS-DM", + "Dowling-Meara type epidermolysis bullosa simplex", + "Epidermolysis bullosa herpetiformis, Dowling-Meara type", + "Epidermolysis bullosa simplex, herpetiformis" + ] + }, + { + "gard_id": "GARD:0002143", + "name": "Junctional epidermolysis bullosa inversa", + "synonyms": [ + "JEB-I" + ] + }, + { + "gard_id": "GARD:0002146", + "name": "Epidermolysis bullosa simplex, localized", + "synonyms": [ + "EBS-loc", + "Weber-Cockayne type epidermolysis bullosa simplex", + "Epidermolysis bullosa simplex, Weber-Cockayne type", + "Epidermolysis bullosa simplex of palms and soles", + "Epidermolysis bullosa of hands and feet", + "Weber-Cockayne syndrome" + ] + }, + { + "gard_id": "GARD:0002147", + "name": "Epidermolysis bullosa simplex, generalized", + "synonyms": [ + "EBS, generalized", + "Generalized EBS", + "Epidermolysis bullosa simplex, Koebner type", + "EBS-K", + "Epidermolysis bullosa simplex, generalized non-Dowling-Meara" + ] + }, + { + "gard_id": "GARD:0002148", + "name": "Epidermolysis bullosa simplex, Ogna type", + "synonyms": [ + "EBS-OG" + ] + }, + { + "gard_id": "GARD:0002150", + "name": "Dystrophic epidermolysis bullosa", + "synonyms": [ + "DEB", + "Epidermolysis bullosa dystrophica", + "Dermolytic epidermolysis bullosa", + "Epidermolysis bullosa, dermolytic" + ] + }, + { + "gard_id": "GARD:0002151", + "name": "Junctional epidermolysis bullosa generalized intermediate", + "synonyms": [ + "JEB-nH", + "Epidermolysis bullosa, junctional, non-Herlitz type", + "Epidermolysis bullosa junctionalis, non-Herlitz type", + "JEN-nH", + "Non-Herlitz JEB", + "Junctional epidermolysis bullosa, non-Herlitz type", + "JEB generalized intermediate" + ] + }, + { + "gard_id": "GARD:0002152", + "name": "Junctional epidermolysis bullosa", + "synonyms": [ + "JEB", + "Epidermolysis bullosa, junctional", + "Epidermolysis bullosa atrophicans" + ] + }, + { + "gard_id": "GARD:0002153", + "name": "Junctional epidermolysis bullosa, Herlitz type", + "synonyms": [ + "JEB-Herlitz type", + "JEB-H", + "Epidermolysis bullosa, junctional, Herlitz type", + "Herlitz-Pearson type epidermolysis bullosa", + "Epidermolysis bullosa, junctional, Herlitz-Pearson type", + "Epidermolysis bullosa letalis", + "Junctional epidermolysis bullosa generalisata gravis" + ] + }, + { + "gard_id": "GARD:0002155", + "name": "Pretibial epidermolysis bullosa", + "synonyms": [ + "Pretibial dystrophic epidermolysis bullosa", + "DEB-Pt", + "Pretibial DEB" + ] + }, + { + "gard_id": "GARD:0002159", + "name": "Benign familial neonatal epilepsy", + "synonyms": [ + "Benign familial neonatal convulsions", + "Benign familial neonatal seizures", + "BFNS" + ] + }, + { + "gard_id": "GARD:0002162", + "name": "Epilepsy juvenile absence", + "synonyms": [ + "JAE", + "Childhood absence epilepsy", + "Juvenile absence epilepsy" + ] + }, + { + "gard_id": "GARD:0002163", + "name": "Epilepsy mental deterioration Finnish type", + "synonyms": null + }, + { + "gard_id": "GARD:0002166", + "name": "Epilepsy occipital calcifications", + "synonyms": [ + "Epilepsy with bilateral occipital calcifications", + "Bilateral occipital calcifications with epilepsy", + "Familial unilateral and bilateral occipital calcifications and epilepsy", + "Celiac disease epilepsy occipital calcifications" + ] + }, + { + "gard_id": "GARD:0002167", + "name": "Epilepsy progressive myoclonic type 3", + "synonyms": [ + "EPM 3", + "Progressive myoclonic epilepsy 3" + ] + }, + { + "gard_id": "GARD:0002168", + "name": "Epilepsy telangiectasia", + "synonyms": [ + "Mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" + ] + }, + { + "gard_id": "GARD:0002169", + "name": "Epilepsy with myoclonic-atonic seizures", + "synonyms": [ + "Doose syndrome", + "Epilepsy with myoclonic-astatic seizures", + "Epilepsy with myoclono-astatic crisis", + "Myoclonic astatic epilepsy" + ] + }, + { + "gard_id": "GARD:0002170", + "name": "Epilepsy, benign occipital", + "synonyms": [ + "BOE", + "Benign occipital epilepsy" + ] + }, + { + "gard_id": "GARD:0002173", + "name": "Epilepsy, partial, familial", + "synonyms": null + }, + { + "gard_id": "GARD:0002175", + "name": "Epimetaphyseal dysplasia cataract", + "synonyms": null + }, + { + "gard_id": "GARD:0002177", + "name": "Epiphyseal dysplasia dysmorphism camptodactyly", + "synonyms": null + }, + { + "gard_id": "GARD:0002178", + "name": "Epiphyseal dysplasia hearing loss dysmorphism", + "synonyms": [ + "Finucane Kurtz Scott syndrome" + ] + }, + { + "gard_id": "GARD:0002180", + "name": "Multiple epiphyseal dysplasia 1", + "synonyms": [ + "Epiphyseal dysplasia multiple 1", + "EDM1", + "Multiple epiphyseal dysplasia COMP-related" + ] + }, + { + "gard_id": "GARD:0002183", + "name": "Acute posterior multifocal placoid pigment epitheliopathy", + "synonyms": [ + "Epitheliopathy, acute posterior multifocal placoid pigment", + "Acute multifocal placoid pigment epitheliopathy", + "Acute placoid pigment epitheliopathy", + "AMPPE", + "APMPPE", + "Multifocal placoid pigment epitheliopathy" + ] + }, + { + "gard_id": "GARD:0002188", + "name": "Erosive pustular dermatosis of the scalp", + "synonyms": null + }, + { + "gard_id": "GARD:0002191", + "name": "Complement component 5 deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002196", + "name": "Esophageal atresia coloboma talipes", + "synonyms": null + }, + { + "gard_id": "GARD:0002197", + "name": "Olfactory neuroblastoma", + "synonyms": [ + "Esthesioneuroblastoma" + ] + }, + { + "gard_id": "GARD:0002198", + "name": "Ethylmalonic encephalopathy", + "synonyms": [ + "Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria", + "Encephalopathy, ethylmalonic", + "Encephalopathy, petechiae, and ethylmalonic aciduria", + "EPEMA syndrome", + "EME" + ] + }, + { + "gard_id": "GARD:0002199", + "name": "Exencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0002204", + "name": "Exostoses, multiple, type 1", + "synonyms": null + }, + { + "gard_id": "GARD:0002205", + "name": "Exostoses, multiple, type 2", + "synonyms": null + }, + { + "gard_id": "GARD:0002206", + "name": "Exostoses, multiple, type 3", + "synonyms": null + }, + { + "gard_id": "GARD:0002207", + "name": "Exstrophy-epispadias complex", + "synonyms": [ + "BEEC", + "Bladder exstrophy-epispadias-cloacal extrophy complex", + "EEC" + ] + }, + { + "gard_id": "GARD:0002213", + "name": "Extrasystoles short stature hyperpigmentation microcephaly", + "synonyms": [ + "Char douglas dungan syndrome" + ] + }, + { + "gard_id": "GARD:0002216", + "name": "Eyebrows duplication of, with stretchable skin and syndactyly", + "synonyms": null + }, + { + "gard_id": "GARD:0002220", + "name": "Facial clefting corpus callosum agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0002221", + "name": "FACES syndrome", + "synonyms": [ + "Facial features (unique), anorexia, cachexia, eye and skin anomalies", + "Friedman-Goodman syndrome" + ] + }, + { + "gard_id": "GARD:0002226", + "name": "Facio digito genital syndrome recessive form", + "synonyms": null + }, + { + "gard_id": "GARD:0002227", + "name": "Facio skeletal genital syndrome Rippberger type", + "synonyms": [ + "Ripperger Aase syndrome" + ] + }, + { + "gard_id": "GARD:0002228", + "name": "Facio thoraco genital syndrome", + "synonyms": [ + "Congenital anomalies, involving mainly the face, thorax, and genitalia" + ] + }, + { + "gard_id": "GARD:0002229", + "name": "Faciocardiomelic dysplasia lethal", + "synonyms": null + }, + { + "gard_id": "GARD:0002230", + "name": "Faciocardiorenal syndrome", + "synonyms": [ + "Eastman Bixler syndrome" + ] + }, + { + "gard_id": "GARD:0002237", + "name": "Factor V deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002238", + "name": "Factor VII deficiency", + "synonyms": [ + "Factor 7 deficiency", + "F7 deficiency", + "Hypoproconvertinemia", + "Congenital proconvertin deficiency" + ] + }, + { + "gard_id": "GARD:0002245", + "name": "Tetralogy of Fallot", + "synonyms": [ + "TOF", + "Fallot tetralogy" + ] + }, + { + "gard_id": "GARD:0002249", + "name": "Familial thoracic aortic aneurysm and aortic dissection", + "synonyms": [ + "Familial TAAD", + "Familial aortic aneurysm", + "Familial thoracic aortic aneurysm", + "Annuloaortic ectasia", + "Familial aortic dissection", + "Familial thoracic aortic aneurysm and dissection" + ] + }, + { + "gard_id": "GARD:0002250", + "name": "Familial band heterotopia", + "synonyms": null + }, + { + "gard_id": "GARD:0002252", + "name": "Congenital hypopituitarism", + "synonyms": [ + "Congenital combined pituitary hormone deficiency", + "Non-acquired combined pituitary hormone deficiency" + ] + }, + { + "gard_id": "GARD:0002254", + "name": "Familial nasal acilia", + "synonyms": null + }, + { + "gard_id": "GARD:0002256", + "name": "Preaxial polydactyly type 3", + "synonyms": [ + "PPD3", + "INDEX FINGER POLYDACTYLY", + "Polydactyly of an index finger" + ] + }, + { + "gard_id": "GARD:0002257", + "name": "Autosomal dominant partial epilepsy with auditory features", + "synonyms": [ + "ADLTE", + "ADPEAF", + "Autosomal dominant lateral temporal lobe epilepsy", + "ETL1" + ] + }, + { + "gard_id": "GARD:0002258", + "name": "Familial porencephaly", + "synonyms": [ + "Familial porencephalic white matter disease" + ] + }, + { + "gard_id": "GARD:0002263", + "name": "Familial ventricular tachycardia", + "synonyms": null + }, + { + "gard_id": "GARD:0002268", + "name": "Fanconi Bickel syndrome", + "synonyms": [ + "Hepatorenal glycogenosis with renal Fanconi syndrome", + "Hepatorenal glycogenosis with renal fanconi syndrome", + "Hepatic glycogenosis with amino aciduria and glucosuria", + "Fanconi syndrome with intestinal malabsorption and galactose intolerance", + "Pseudo-Phlorizin diabetes", + "Glycogenosis Fanconi type", + "Glycogen storage disease XI", + "GLUT2 deficiency", + "Glycogen storage disease due to GLUT2 deficiency" + ] + }, + { + "gard_id": "GARD:0002273", + "name": "Fara Chlupackova syndrome", + "synonyms": [ + "Familial oto-facio-cervical dysmorphia" + ] + }, + { + "gard_id": "GARD:0002277", + "name": "Faye-Petersen-Ward-Carey syndrome", + "synonyms": [ + "Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" + ] + }, + { + "gard_id": "GARD:0002279", + "name": "Feigenbaum Bergeron Richardson syndrome", + "synonyms": [ + "Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease", + "Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder" + ] + }, + { + "gard_id": "GARD:0002280", + "name": "Feigenbaum Bergeron syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002282", + "name": "Feingold Trainer syndrome", + "synonyms": [ + "Unusual facies, cleft palate, short stature, and mental retardation" + ] + }, + { + "gard_id": "GARD:0002285", + "name": "Femur bifid with monodactylous ectrodactyly", + "synonyms": [ + "GWC", + "Gollop-Wolfgang complex" + ] + }, + { + "gard_id": "GARD:0002286", + "name": "Femur fibula ulna syndrome", + "synonyms": [ + "FFU syndrome" + ] + }, + { + "gard_id": "GARD:0002287", + "name": "Fenton Wilkinson Toselano syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002293", + "name": "Fetal akinesia syndrome X-linked", + "synonyms": [ + "X-linked form of fetal akinesia syndrome", + "Polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures" + ] + }, + { + "gard_id": "GARD:0002294", + "name": "Fetal aminopterin syndrome", + "synonyms": [ + "Aminopterin embryopathy syndrome", + "Aminopterin fetopathy syndrome", + "Aminopterin syndrome", + "Fetal methotrexate syndrome" + ] + }, + { + "gard_id": "GARD:0002295", + "name": "Fetal and neonatal alloimmune thrombocytopenia", + "synonyms": [ + "NAIT" + ] + }, + { + "gard_id": "GARD:0002297", + "name": "Fetal brain disruption sequence", + "synonyms": null + }, + { + "gard_id": "GARD:0002302", + "name": "Fetal enterovirus syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002304", + "name": "Fetal iodine syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002305", + "name": "Fetal left ventricular aneurysm", + "synonyms": null + }, + { + "gard_id": "GARD:0002308", + "name": "Fetal minoxidil syndrome", + "synonyms": [ + "Minoxidil antenatal exposure", + "Minoxidil antenatal infection" + ] + }, + { + "gard_id": "GARD:0002309", + "name": "Fetal parainfluenza virus type 3 syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002310", + "name": "Fetal parvovirus syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002311", + "name": "Fetal phenothiazine syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002313", + "name": "Fetal thalidomide syndrome", + "synonyms": [ + "Thalidomide embryopathy" + ] + }, + { + "gard_id": "GARD:0002317", + "name": "FG syndrome", + "synonyms": [ + "FGS", + "Opitz-Kaveggia syndrome", + "FGS1", + "Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", + "Keller syndrome" + ] + }, + { + "gard_id": "GARD:0002320", + "name": "Fibrinogen deficiency, congenital", + "synonyms": [ + "Congenital fibrinogen deficiency" + ] + }, + { + "gard_id": "GARD:0002321", + "name": "Fibrochondrogenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0002322", + "name": "Birt-Hogg-Dube syndrome", + "synonyms": [ + "BHD syndrome", + "Fibrofolliculomas with trichodiscomas and acrochordons", + "BHD", + "Hornstein-Knickenberg syndrome", + "Birt Hogg Dube syndrome" + ] + }, + { + "gard_id": "GARD:0002324", + "name": "Gingival fibromatosis with hypertrichosis", + "synonyms": [ + "Hypertrichosis terminalis, generalized, with gingival hyperplasia", + "Extreme hirsutism with gingival fibromatosis", + "Hereditary gingival fibromatosis with hypertrichosis" + ] + }, + { + "gard_id": "GARD:0002327", + "name": "Fibrosarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0002331", + "name": "Fibular aplasia ectrodactyly", + "synonyms": [ + "Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" + ] + }, + { + "gard_id": "GARD:0002333", + "name": "Fibular hypoplasia scapulo pelvic dysplasia absent", + "synonyms": null + }, + { + "gard_id": "GARD:0002336", + "name": "Absence of fingerprints congenital milia", + "synonyms": [ + "Absence of dermatoglyphics congenital milia", + "Baird syndrome", + "Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities", + "Basan syndrome" + ] + }, + { + "gard_id": "GARD:0002339", + "name": "Familial amyloidosis, Finnish type", + "synonyms": [ + "Amyloidosis, Meretoja type", + "Amyloid cranial neuropathy with lattice corneal dystrophy", + "Amyloidosis V", + "Lattice corneal dystrophy type II Finnish", + "Familial amyloid polyneuropathy type IV", + "Hereditary gelsolin amyloidosis", + "AGel amyloidosis" + ] + }, + { + "gard_id": "GARD:0002342", + "name": "Fitzsimmons Walson Mellor syndrome", + "synonyms": [ + "Spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy", + "Spastic paraplegia - nephritis - deafness" + ] + }, + { + "gard_id": "GARD:0002343", + "name": "Fitzsimmons-Guilbert syndrome", + "synonyms": [ + "Spastic paraplegia associated with brachydactyly type E", + "Fitzsimmons syndrome" + ] + }, + { + "gard_id": "GARD:0002344", + "name": "Fitzsimmons syndrome", + "synonyms": [ + "Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" + ] + }, + { + "gard_id": "GARD:0002346", + "name": "FLOTCH syndrome", + "synonyms": [ + "Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity" + ] + }, + { + "gard_id": "GARD:0002347", + "name": "Flynn Aird syndrome", + "synonyms": [ + "Cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental", + "Flynn-Aird syndrome" + ] + }, + { + "gard_id": "GARD:0002349", + "name": "Focal alopecia congenital megalencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0002350", + "name": "Focal or multifocal malformations in neuronal migration", + "synonyms": null + }, + { + "gard_id": "GARD:0002351", + "name": "Foix Chavany Marie syndrome", + "synonyms": [ + "Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation", + "Congenital Foix-Chavany-Marie syndrome (subtype)" + ] + }, + { + "gard_id": "GARD:0002354", + "name": "Basaloid follicular hamartoma", + "synonyms": null + }, + { + "gard_id": "GARD:0002355", + "name": "Ichthyosis, follicular", + "synonyms": [ + "Follicular ichthyosis" + ] + }, + { + "gard_id": "GARD:0002356", + "name": "Follicular lymphoma", + "synonyms": [ + "Lymphoma, follicular" + ] + }, + { + "gard_id": "GARD:0002357", + "name": "Follicular lymphoreticuloma", + "synonyms": null + }, + { + "gard_id": "GARD:0002358", + "name": "Fontaine Farriaux Blanckaert syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002361", + "name": "Formaldehyde poisoning", + "synonyms": [ + "Formaldehyde toxicity", + "Formalin intoxication", + "Formalin toxicity" + ] + }, + { + "gard_id": "GARD:0002362", + "name": "Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones", + "synonyms": [ + "Forney Robinson Pascoe syndrome", + "Congenital heart disease, deafness, and skeletal malformations", + "Cardiospondylocarpofacial syndrome" + ] + }, + { + "gard_id": "GARD:0002365", + "name": "Fowler's syndrome", + "synonyms": [ + "Voiding dysfunction and polycystic ovaries", + "Polycystic ovaries urethral sphincter dysfunction", + "Fowler Christmas Chapple syndrome" + ] + }, + { + "gard_id": "GARD:0002366", + "name": "Fragile X syndrome type 1", + "synonyms": null + }, + { + "gard_id": "GARD:0002367", + "name": "Fragile X syndrome type 2", + "synonyms": null + }, + { + "gard_id": "GARD:0002368", + "name": "Fragile X syndrome type 3", + "synonyms": null + }, + { + "gard_id": "GARD:0002371", + "name": "Franceschini Vardeu Guala syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002373", + "name": "Fraser Jequier Chen syndrome", + "synonyms": [ + "Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs" + ] + }, + { + "gard_id": "GARD:0002375", + "name": "Frasier syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002377", + "name": "FRAXD", + "synonyms": null + }, + { + "gard_id": "GARD:0002378", + "name": "Fragile XE syndrome", + "synonyms": [ + "FRAXE syndrome", + "Fragile site, folic acid type", + "X-linked mental retardation associated with fragile site FRAXE" + ] + }, + { + "gard_id": "GARD:0002380", + "name": "Freiberg's disease", + "synonyms": [ + "Osteochondrosis of the metatarsal head, usually the second", + "Freiberg's infraction", + "Kohler's second disease", + "Second metatarsal osteochondrosis", + "Freiberg-Kohler syndrome" + ] + }, + { + "gard_id": "GARD:0002381", + "name": "Odontotrichomelic syndrome", + "synonyms": [ + "Odontotrichomelic hypohidrotic dysplasia", + "Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities", + "Freire-Maia syndrome", + "Freire-Maia odontotrichomelic syndrome" + ] + }, + { + "gard_id": "GARD:0002383", + "name": "Frenkel Russe syndrome", + "synonyms": [ + "Retinal telangiectasia associated with hypogammaglobulinemia" + ] + }, + { + "gard_id": "GARD:0002384", + "name": "Frias syndrome", + "synonyms": [ + "Growth deficiency, facial anomalies, and brachydactyly", + "14q22-q23 microdeletion syndrome", + "Chromosome 14q22 deletion syndrome", + "14q22q23 microdeletion syndrome", + "Del(14)(q22q23)", + "Monosomy 14q22-q23", + "Monosomy 14q22q23" + ] + }, + { + "gard_id": "GARD:0002389", + "name": "Fronto nasal malformation cloacal exstrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0002390", + "name": "Frontofacionasal dysplasia", + "synonyms": [ + "FFND", + "Frontofacionasal dysostosis", + "Fronto-facio-nasal dysostosis", + "Fronto-facio-nasal dyplasia" + ] + }, + { + "gard_id": "GARD:0002392", + "name": "Frontonasal dysplasia", + "synonyms": [ + "Median facial cleft syndrome", + "Median cleft syndrome", + "Median cleft face syndrome" + ] + }, + { + "gard_id": "GARD:0002393", + "name": "Frontonasal dysplasia acromelic", + "synonyms": null + }, + { + "gard_id": "GARD:0002394", + "name": "Frontonasal dysplasia Klippel Feil syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002395", + "name": "Frontonasal dysplasia phocomelic upper limbs", + "synonyms": null + }, + { + "gard_id": "GARD:0002397", + "name": "Froster-Huch syndrome", + "synonyms": [ + "Diaphragmatic defect limb deficiency skull defect" + ] + }, + { + "gard_id": "GARD:0002400", + "name": "Fructose-1,6-bisphosphatase deficiency", + "synonyms": [ + "Fructose 1,6 diphosphatase deficiency", + "Baker-Winegrad disease" + ] + }, + { + "gard_id": "GARD:0002407", + "name": "Fryns Fabry Remans syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002408", + "name": "Fryns Hofkens Fabry syndrome", + "synonyms": [ + "Ulnar hypoplasia", + "Upper limb mesomelic dysplasia", + "Ulna hypoplasia" + ] + }, + { + "gard_id": "GARD:0002409", + "name": "Fryns smeets thiry syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002410", + "name": "Fuhrmann syndrome", + "synonyms": [ + "Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies", + "Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" + ] + }, + { + "gard_id": "GARD:0002411", + "name": "Fukuda Miyanomae Nakata syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002414", + "name": "Functioning pancreatic endocrine tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0002415", + "name": "Fuqua Berkovitz syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002417", + "name": "Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus", + "synonyms": null + }, + { + "gard_id": "GARD:0002418", + "name": "Furunculous myiasis", + "synonyms": [ + "Furuncular myiasis" + ] + }, + { + "gard_id": "GARD:0002419", + "name": "Fused mandibular incisors", + "synonyms": [ + "Double tooth" + ] + }, + { + "gard_id": "GARD:0002422", + "name": "Galactokinase deficiency", + "synonyms": [ + "GALK deficiency", + "Galactosemia 2", + "Hereditary galactokinase deficiency", + "Galactosemia type 2", + "Galactokinase deficiency galactosemia", + "GALK-D" + ] + }, + { + "gard_id": "GARD:0002424", + "name": "Galactosemia", + "synonyms": null + }, + { + "gard_id": "GARD:0002427", + "name": "Game Friedman Paradice syndrome", + "synonyms": [ + "Hydrocephalus with associated malformations", + "Retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" + ] + }, + { + "gard_id": "GARD:0002428", + "name": "Gamma-cystathionase deficiency", + "synonyms": [ + "Cystathioninuria" + ] + }, + { + "gard_id": "GARD:0002429", + "name": "Limb-girdle muscular dystrophy, type 2C", + "synonyms": [ + "Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency", + "Gamma-sarcoglycanopathy", + "LGMD2C", + "Muscular dystrophy, Duchenne-like", + "Duchenne-like muscular dystrophy, autosomal recessive, type 1", + "DMDA1", + "Adhalin deficiency, secondary", + "DMDA", + "Severe childhood autosomal recessive muscular dystrophy, North African type", + "Maghrebian myopathy", + "Autosomal recessive limb-girdle muscular dystrophy type 2C", + "Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency", + "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5", + "Gamma-sarcoglycan-related LGMD R5", + "LGMD due to gamma-sarcoglycan deficiency", + "LGMD type 2C", + "Limb-girdle muscular dystrophy type 2C" + ] + }, + { + "gard_id": "GARD:0002430", + "name": "Ganglioglioma", + "synonyms": [ + "Mixed cell tumors containing both neural ganglionic cells and neural glial cell components" + ] + }, + { + "gard_id": "GARD:0002431", + "name": "GM1 gangliosidosis type 3", + "synonyms": [ + "Gangliosidosis GM1 type 3", + "Beta-galactosidase deficiency type 3", + "Adult GM1 gangliosidosis", + "Gangliosidosis generalized GM1 chronic type" + ] + }, + { + "gard_id": "GARD:0002432", + "name": "Leiomyomatosis, esophageal and vulval, with nephropathy", + "synonyms": [ + "DL-ATS", + "Diffuse leiomyomatosis in Alport syndrome", + "Alport syndrome with diffuse leiomyomatosis", + "ATS-DL" + ] + }, + { + "gard_id": "GARD:0002435", + "name": "Garret Tripp syndrome", + "synonyms": [ + "Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip", + "Polydactyly alopecia seborrheic dermatitis" + ] + }, + { + "gard_id": "GARD:0002436", + "name": "Menetrier disease", + "synonyms": [ + "Giant hypertrophic gastritis", + "Giant hypertrophic gastropathy", + "Gastroenteropathy, protein losing", + "Giant hypertrophy of the gastric mucosa", + "Hypertrophic gastropathy" + ] + }, + { + "gard_id": "GARD:0002437", + "name": "Gastro-enteropancreatic neuroendocrine tumor", + "synonyms": [ + "GEP tumors" + ] + }, + { + "gard_id": "GARD:0002438", + "name": "Gastrocutaneous syndrome", + "synonyms": [ + "Peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia" + ] + }, + { + "gard_id": "GARD:0002441", + "name": "Gaucher disease type 1", + "synonyms": [ + "Gaucher disease, noncerebral juvenile", + "GD 1", + "Glucocerebrosidase deficiency", + "Acid beta-glucosidase deficiency", + "GBA DEFICIENCY" + ] + }, + { + "gard_id": "GARD:0002442", + "name": "Gaucher disease type 2", + "synonyms": [ + "GD 2", + "Gaucher disease, infantile cerebral", + "Gaucher disease, acute neuronopathic type" + ] + }, + { + "gard_id": "GARD:0002443", + "name": "Gaucher disease type 3", + "synonyms": [ + "GD 3", + "Gaucher disease, juvenile and adult, cerebral", + "Gaucher disease, chronic neuronopathic type", + "Gaucher disease, subacute neuronopathic type" + ] + }, + { + "gard_id": "GARD:0002444", + "name": "Gaucher ichthyosis restrictive dermopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0002446", + "name": "Gay Feinmesser Cohen syndrome", + "synonyms": [ + "Laryngeal web, congenital heart disease and low stature", + "Subglottic bar, congenital heart disease and low stature" + ] + }, + { + "gard_id": "GARD:0002447", + "name": "Green Sandford Davison syndrome", + "synonyms": [ + "Renal and anogenital malformations with syndactyly", + "Anal anomalies, renal tract abnormalities, genital malformations, and syndactyly" + ] + }, + { + "gard_id": "GARD:0002449", + "name": "Geleophysic dwarfism", + "synonyms": [ + "Geleophysic dysplasia" + ] + }, + { + "gard_id": "GARD:0002451", + "name": "Gemignani syndrome", + "synonyms": [ + "Spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness" + ] + }, + { + "gard_id": "GARD:0002452", + "name": "Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome", + "synonyms": [ + "GEMSS" + ] + }, + { + "gard_id": "GARD:0002454", + "name": "Genoa syndrome", + "synonyms": [ + "Holoprosencephaly craniosynostosis", + "Camera Lituania Cohen syndrome", + "Semilobar holoprosencephaly and primary craniosynostosis" + ] + }, + { + "gard_id": "GARD:0002455", + "name": "Genetic reflex epilepsy", + "synonyms": null + }, + { + "gard_id": "GARD:0002458", + "name": "Genital dwarfism", + "synonyms": null + }, + { + "gard_id": "GARD:0002459", + "name": "Genital dwarfism, Turner type", + "synonyms": null + }, + { + "gard_id": "GARD:0002460", + "name": "Genito palato cardiac syndrome", + "synonyms": [ + "Gardner-Silengo-Wachtel syndrome", + "Genito-palato-cardiac syndrome", + "Genitopalatocardiac syndrome" + ] + }, + { + "gard_id": "GARD:0002464", + "name": "Gershinibaruch Leibo syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002467", + "name": "Ghose Sachdev Kumar syndrome", + "synonyms": [ + "Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma" + ] + }, + { + "gard_id": "GARD:0002469", + "name": "Giant congenital nevus", + "synonyms": [ + "GPHN", + "Giant pigmented hairy nevus", + "Giant pigmented nevus", + "Bathing trunk nevus", + "Large congenital melanocytic nevus", + "Congenital giant pigmented nevus", + "Giant hairy nevus", + "Congenital hairy nevus", + "Giant congenital melanocytic nevus" + ] + }, + { + "gard_id": "GARD:0002470", + "name": "Giant platelet syndrome", + "synonyms": [ + "Bernard-Soulier syndrome", + "BSS", + "Platelet glycoprotein 1b, deficiency of", + "Deficiency of platelet glycoprotein 1b", + "Von Willebrand factor receptor deficiency", + "Macrothrombocytopenia, familial Bernard-Soulier type", + "Hemorrhagiparous thrombocytic dystrophy", + "Giant platelet disease" + ] + }, + { + "gard_id": "GARD:0002471", + "name": "Gigantism advanced bone age hoarse cry", + "synonyms": null + }, + { + "gard_id": "GARD:0002474", + "name": "Gingival fibromatosis, 2", + "synonyms": [ + "GINGF2", + "GGF2", + "HGF2", + "Hereditary gingival fibromatosis, 2", + "Fibromatosis gingival, hereditary, 2" + ] + }, + { + "gard_id": "GARD:0002475", + "name": "Gingival fibromatosis, 4", + "synonyms": [ + "GINGF4", + "GGF4", + "HGF4", + "Hereditary gingival fibromatosis, 4", + "Fibromatosis gingival, hereditary, 4" + ] + }, + { + "gard_id": "GARD:0002478", + "name": "Glanzmann thrombasthenia", + "synonyms": [ + "Thrombasthenia of Glanzmann and Naegeli", + "GT", + "Platelet fibrinogen receptor, deficiency of", + "Platelet glycoprotein 2B 3A deficiency", + "Deficiency of GP 2B 3A complex", + "Glanzmann thrombasthenia type A", + "Diacyclothrombopathia 2B 3A" + ] + }, + { + "gard_id": "GARD:0002482", + "name": "Glaucoma iridogoniodysgenesia", + "synonyms": null + }, + { + "gard_id": "GARD:0002483", + "name": "Glaucoma sleep apnea", + "synonyms": null + }, + { + "gard_id": "GARD:0002484", + "name": "Glaucoma type 1C", + "synonyms": null + }, + { + "gard_id": "GARD:0002485", + "name": "Glaucoma, congenital", + "synonyms": null + }, + { + "gard_id": "GARD:0002486", + "name": "Glaucoma, hereditary", + "synonyms": null + }, + { + "gard_id": "GARD:0002487", + "name": "Glaucoma, hereditary adult type 1A", + "synonyms": null + }, + { + "gard_id": "GARD:0002488", + "name": "Glaucoma, hereditary juvenile type 1B", + "synonyms": null + }, + { + "gard_id": "GARD:0002489", + "name": "Glaucoma, primary infantile type 3A", + "synonyms": null + }, + { + "gard_id": "GARD:0002490", + "name": "Glaucoma 3 primary infantile B", + "synonyms": [ + "GLC3B", + "GLC3 type B", + "Primary congenital glaucoma type 3B", + "Glaucoma primary congenita type 3B", + "Primary congenital glaucoma" + ] + }, + { + "gard_id": "GARD:0002491", + "name": "Glioblastoma", + "synonyms": [ + "Glioblastoma multiforme" + ] + }, + { + "gard_id": "GARD:0002492", + "name": "Glomerulonephritis with sparse hair and telangiectases", + "synonyms": [ + "Telangiectatic membranoproliferative glomerulonephritis" + ] + }, + { + "gard_id": "GARD:0002495", + "name": "Glossopalatine ankylosis micrognathia ear anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0002496", + "name": "Glucagonoma", + "synonyms": [ + "Pancreatic Glucagonoma", + "Glucagonoma syndrome" + ] + }, + { + "gard_id": "GARD:0002498", + "name": "Familial glucocorticoid deficiency", + "synonyms": [ + "ACTH resistance" + ] + }, + { + "gard_id": "GARD:0002499", + "name": "Glucocorticoid resistance", + "synonyms": [ + "CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT" + ] + }, + { + "gard_id": "GARD:0002501", + "name": "Glucose-6-phosphate translocase deficiency", + "synonyms": [ + "G6P translocase deficiency" + ] + }, + { + "gard_id": "GARD:0002502", + "name": "Glucosephosphate isomerase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002503", + "name": "Glucosidase acid-1,4-alpha deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002505", + "name": "Glutamate decarboxylase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002510", + "name": "Glyceraldehyde-3-phosphate dehydrogenase deficiency", + "synonyms": [ + "GAPDH deficiency" + ] + }, + { + "gard_id": "GARD:0002513", + "name": "Glycogen storage disease type 0, liver", + "synonyms": [ + "Liver GSD 0", + "Liver glycogen storage disease 0", + "Hepatic glycogen synthase deficiency", + "Liver glycogen synthase deficiency" + ] + }, + { + "gard_id": "GARD:0002515", + "name": "Glycogen storage disease type 1B", + "synonyms": [ + "GSD1B", + "Glucose-6-phosphate transport defect" + ] + }, + { + "gard_id": "GARD:0002520", + "name": "Glycogen storage disease type 4", + "synonyms": [ + "GSD 4", + "Andersen disease", + "Brancher deficiency", + "Amylopectinosis", + "Glycogen branching enzyme deficiency", + "Cirrhosis, familial, with deposition of abnormal glycogen", + "Glycogenosis 4", + "GSD IV" + ] + }, + { + "gard_id": "GARD:0002521", + "name": "GM2 gangliosidosis, 0 variant", + "synonyms": null + }, + { + "gard_id": "GARD:0002522", + "name": "GM2-gangliosidosis, B, B1, AB variant", + "synonyms": null + }, + { + "gard_id": "GARD:0002523", + "name": "GMS syndrome", + "synonyms": [ + "Goniodysgenesis-intellectual disability-short stature syndrome" + ] + }, + { + "gard_id": "GARD:0002533", + "name": "Gollop Coates syndrome", + "synonyms": [ + "Bifurcation of distal humerus with oligoectro-syndactyly" + ] + }, + { + "gard_id": "GARD:0002537", + "name": "GOMBO syndrome", + "synonyms": [ + "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" + ] + }, + { + "gard_id": "GARD:0002538", + "name": "Gonadal dysgenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0002539", + "name": "Gonadal dysgenesis mixed", + "synonyms": null + }, + { + "gard_id": "GARD:0002540", + "name": "Gonadal dysgenesis Turner type", + "synonyms": null + }, + { + "gard_id": "GARD:0002541", + "name": "Gonadal dysgenesis XY type associated anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0002542", + "name": "Perrault syndrome", + "synonyms": [ + "Gonadal dysgenesis, XX type, with deafness", + "Ovarian dysgenesis with sensorineural deafness", + "Gonadal dysgenesis, XX type" + ] + }, + { + "gard_id": "GARD:0002546", + "name": "Gonococcal conjunctivitis", + "synonyms": null + }, + { + "gard_id": "GARD:0002551", + "name": "Goodpasture syndrome", + "synonyms": [ + "Rapidly progressive glomerulonephritis with pulmonary hemorrhage", + "Anti-glomerular basement membrane antibody disease", + "Glomerulonephritis - pulmonary hemorrhage", + "Pulmonary renal syndrome" + ] + }, + { + "gard_id": "GARD:0002553", + "name": "Gordon syndrome", + "synonyms": [ + "Arthrogryposis distal type 3", + "Distal arthrogryposis type 3", + "DA3", + "Camptodactyly, cleft palate, and clubfoot" + ] + }, + { + "gard_id": "GARD:0002557", + "name": "Graham Boyle Troxell syndrome", + "synonyms": [ + "Cystic hamartoma of lung and kidney" + ] + }, + { + "gard_id": "GARD:0002559", + "name": "Grant syndrome", + "synonyms": [ + "Persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" + ] + }, + { + "gard_id": "GARD:0002562", + "name": "Gray platelet syndrome", + "synonyms": [ + "GPS", + "Platelet alpha-granule deficiency", + "Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins" + ] + }, + { + "gard_id": "GARD:0002566", + "name": "Griscelli syndrome type 1", + "synonyms": [ + "GS1", + "Griscelli syndrome with neurologic impairment", + "Partial albinism and primary neurologic disease without hemophagocytic syndrome", + "Pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts", + "Griscelli syndrome, cutaneous and neurologic type" + ] + }, + { + "gard_id": "GARD:0002567", + "name": "Grix Blankenship Peterson syndrome", + "synonyms": [ + "Craniofacial and osseous defects mental retardation" + ] + }, + { + "gard_id": "GARD:0002568", + "name": "Groll Hirschowitz syndrome", + "synonyms": [ + "Nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy" + ] + }, + { + "gard_id": "GARD:0002572", + "name": "Myhre syndrome", + "synonyms": [ + "Facial dysmorphism - intellectual deficit - short stature - hearing loss", + "Laryngotracheal stenosis, arthropathy, prognathism, and short stature", + "LAPS syndrome", + "Growth mental deficiency syndrome of Myhre" + ] + }, + { + "gard_id": "GARD:0002574", + "name": "Growth retardation hydrocephaly lung hypoplasia", + "synonyms": [ + "Hydrocepalus with associated malformations", + "Game-Friedman-Paradice syndrome" + ] + }, + { + "gard_id": "GARD:0002576", + "name": "Grubben de Cock Borghgraef syndrome", + "synonyms": [ + "Severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin", + "Growth retardation, small and puffy hands and feet, and eczema", + "Developmental delay - hypotonia - extremities hypertrophy" + ] + }, + { + "gard_id": "GARD:0002578", + "name": "Guanidinoacetate methyltransferase deficiency", + "synonyms": [ + "GAMT deficiency", + "Cerebral creatine deficiency syndrome 2" + ] + }, + { + "gard_id": "GARD:0002579", + "name": "Osteopetrosis autosomal recessive 1", + "synonyms": [ + "OPTB1", + "Autosomal recessive osteopetrosis type 1", + "Osteopetrosis infantile malignant 1", + "Marble bones autosomal recessive" + ] + }, + { + "gard_id": "GARD:0002580", + "name": "Dermoids of cornea", + "synonyms": [ + "CND" + ] + }, + { + "gard_id": "GARD:0002582", + "name": "Hair defect-photosensitivity-intellectual disability syndrome", + "synonyms": [ + "Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation (formerly)", + "Calderon Gonzalez-Cantu syndrome", + "Calderón-González-Cantu syndrome" + ] + }, + { + "gard_id": "GARD:0002586", + "name": "Hall-Riggs syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002589", + "name": "Hamanishi Ueba Tsuji syndrome", + "synonyms": [ + "Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy", + "Polyneuropathy, hand defect" + ] + }, + { + "gard_id": "GARD:0002593", + "name": "Hand and foot deformity with flat facies", + "synonyms": [ + "Familial syndrome of short stature, deformities of the hands and feet, and unusual facies", + "Emery-Nelson syndrome", + "Hand and foot deformity - flat facies" + ] + }, + { + "gard_id": "GARD:0002594", + "name": "Hand foot uterus syndrome", + "synonyms": [ + "HFU syndrome", + "HFG syndrome", + "Hand foot genital syndrome", + "HFGS" + ] + }, + { + "gard_id": "GARD:0002597", + "name": "Tendons, extensor, of fingers, anomalous insertion of", + "synonyms": [ + "Anomalous insertion of extensor tendons of fingers", + "Hapnes Boman Skeie syndrome" + ] + }, + { + "gard_id": "GARD:0002598", + "name": "Hard skin syndrome Parana type", + "synonyms": [ + "Parana hard skin syndrome" + ] + }, + { + "gard_id": "GARD:0002599", + "name": "Walker-Warburg syndrome", + "synonyms": [ + "Hydrocephalus, agyria and retinal dysplasia", + "Hard syndrome", + "Hard +/- E syndrome", + "Warburg syndrome", + "Chemke syndrome", + "Pagon syndrome", + "Cerebroocular dysgenesis", + "Cerebroocular dysplasia muscular dystrophy syndrome", + "COD-MD syndrome" + ] + }, + { + "gard_id": "GARD:0002600", + "name": "Harding ataxia", + "synonyms": [ + "Cerebellar ataxia early onset with retained tendon reflex", + "EOCA", + "Ataxia, harding type" + ] + }, + { + "gard_id": "GARD:0002601", + "name": "Harrod Doman Keele syndrome", + "synonyms": [ + "Harrod syndrome", + "Craniofacial digital genital anomalies" + ] + }, + { + "gard_id": "GARD:0002604", + "name": "Hashimoto-Pritzker syndrome", + "synonyms": [ + "Hashimoto-Pritzker histiocytosis", + "Hashimoto-Pritzker disease", + "Congenital Langerhans cell histiocytosis", + "OBSOLETE: Hashimoto-Pritzker syndrome" + ] + }, + { + "gard_id": "GARD:0002605", + "name": "Short stature-craniofacial anomalies-genital hypoplasia syndrome", + "synonyms": [ + "Haspeslagh syndrome", + "Pterygia mental retardation facial dysmorphism", + "Haspeslagh-Fryns-Muelenaere syndrome" + ] + }, + { + "gard_id": "GARD:0002610", + "name": "Progressive familial heart block type 1B", + "synonyms": [ + "Heart block progressive familial type 1B", + "PFHB1B" + ] + }, + { + "gard_id": "GARD:0002613", + "name": "Cardioskeletal syndrome Kuwaiti type", + "synonyms": [ + "Heart defects and limb shortening" + ] + }, + { + "gard_id": "GARD:0002614", + "name": "Heart-hand syndrome, Spanish type", + "synonyms": [ + "Brachydactyly and intraventricular conduction defect", + "Upper limb malformations and congenital cardiac anomalies" + ] + }, + { + "gard_id": "GARD:0002619", + "name": "Heart tumor", + "synonyms": [ + "Myocardial tumors (rhabdomyomas and fibromas)", + "Intracavitary tumors", + "Primary cardiac tumors, childhood" + ] + }, + { + "gard_id": "GARD:0002620", + "name": "HEC syndrome", + "synonyms": [ + "Hydrocephalus, endocardial fibroelastosis, and cataracts", + "Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts" + ] + }, + { + "gard_id": "GARD:0002621", + "name": "Trismus-pseudocamptodactyly syndrome", + "synonyms": [ + "Hecht syndrome", + "Dutch-Kentucky syndrome", + "Distal arthrogryposis type 7", + "Arthrogryposis distal type 7" + ] + }, + { + "gard_id": "GARD:0002622", + "name": "Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", + "synonyms": [ + "FATCO syndrome", + "Terminal transverse defects of the limbs associated with congenital heart malformations", + "Hecht-Scott syndrome", + "Limb deficiency-heart malformation syndrome", + "Fibular aplasia-tibial campomelia-oligosyndactyly syndrome" + ] + }, + { + "gard_id": "GARD:0002627", + "name": "Hemangiopericytoma", + "synonyms": null + }, + { + "gard_id": "GARD:0002630", + "name": "Hemi 3 syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002633", + "name": "Hemifacial hyperplasia strabismus", + "synonyms": [ + "Bencze syndrome" + ] + }, + { + "gard_id": "GARD:0002637", + "name": "Hemimegalencephaly", + "synonyms": [ + "Macrencephaly", + "Unilateral Megalencephaly" + ] + }, + { + "gard_id": "GARD:0002640", + "name": "Hemoglobin C disease", + "synonyms": [ + "Hb C disease" + ] + }, + { + "gard_id": "GARD:0002641", + "name": "Hemoglobin E disease", + "synonyms": null + }, + { + "gard_id": "GARD:0002642", + "name": "Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities", + "synonyms": null + }, + { + "gard_id": "GARD:0002649", + "name": "Heparane sulfamidase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002650", + "name": "Heparin-induced thrombocytopenia", + "synonyms": [ + "HIT", + "Heparin-induced thrombocytopenia" + ] + }, + { + "gard_id": "GARD:0002651", + "name": "Hepatic cystic hamartoma", + "synonyms": null + }, + { + "gard_id": "GARD:0002657", + "name": "Hepatoblastoma", + "synonyms": null + }, + { + "gard_id": "GARD:0002658", + "name": "Tyrosinemia type 1", + "synonyms": [ + "Tyrosinemia type I", + "Hepatorenal tyrosinemia", + "Fumarylacetoacetase deficiency", + "FAH deficiency" + ] + }, + { + "gard_id": "GARD:0002659", + "name": "Hereditary methemoglobinemia", + "synonyms": [ + "Autosomal recessive methemoglobinemia", + "Congenital methemoglobinemia" + ] + }, + { + "gard_id": "GARD:0002661", + "name": "Hereditary nodular heterotopia", + "synonyms": null + }, + { + "gard_id": "GARD:0002663", + "name": "Hereditary resistance to anti-vitamin K", + "synonyms": null + }, + { + "gard_id": "GARD:0002669", + "name": "Herpes virus antenatal infection", + "synonyms": [ + "congenital HSV infection" + ] + }, + { + "gard_id": "GARD:0002671", + "name": "Herrmann Opitz craniosynostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0002672", + "name": "Hersh Podruch Weisskopk syndrome", + "synonyms": [ + "Toluene embryopathy", + "Microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency" + ] + }, + { + "gard_id": "GARD:0002682", + "name": "Ectodermal dysplasia, hidrotic, Christianson-Fourie type", + "synonyms": null + }, + { + "gard_id": "GARD:0002684", + "name": "High molecular weight kininogen deficiency", + "synonyms": [ + "High-molecular-weight kininogen deficiency, congenital", + "HMWK", + "Flaujeac factor deficiency" + ] + }, + { + "gard_id": "GARD:0002690", + "name": "Beukes familial hip dysplasia", + "synonyms": [ + "BFHD", + "Hip dysplasia Beukes type", + "Osteoarthropathy, premature degenerative, of hip", + "Cilliers-Beighton syndrome" + ] + }, + { + "gard_id": "GARD:0002692", + "name": "Hip subluxation", + "synonyms": null + }, + { + "gard_id": "GARD:0002695", + "name": "Hirschsprung disease ganglioneuroblastoma", + "synonyms": [ + "Neuroblastoma with Hirschsprung disease" + ] + }, + { + "gard_id": "GARD:0002698", + "name": "Hirschsprung disease type 2", + "synonyms": null + }, + { + "gard_id": "GARD:0002699", + "name": "Hirschsprung disease type 3", + "synonyms": [ + "HSCR3", + "Hirschsprung disease modifier" + ] + }, + { + "gard_id": "GARD:0002700", + "name": "Hirschsprung disease type d brachydactyly", + "synonyms": [ + "Familial Hirschsprung's disease and type D brachydactyly" + ] + }, + { + "gard_id": "GARD:0002703", + "name": "Hirschsprung nail hypoplasia dysmorphism", + "synonyms": null + }, + { + "gard_id": "GARD:0002706", + "name": "His bundle tachycardia", + "synonyms": null + }, + { + "gard_id": "GARD:0002708", + "name": "Histidinuria renal tubular defect", + "synonyms": [ + "Renal histidinuria" + ] + }, + { + "gard_id": "GARD:0002712", + "name": "HMG CoA synthetase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002714", + "name": "Hodgkin lymphoma", + "synonyms": [ + "Hodgkin disease", + "Hodgkin's lymphoma", + "Lymphoma, Hodgkin's" + ] + }, + { + "gard_id": "GARD:0002720", + "name": "Holoacardius amorphus", + "synonyms": null + }, + { + "gard_id": "GARD:0002721", + "name": "Holocarboxylase synthetase deficiency", + "synonyms": [ + "Early-onset multiple carboxylase deficiency", + "Neonatal multiple carboxylase deficiency" + ] + }, + { + "gard_id": "GARD:0002725", + "name": "Holoprosencephaly ectrodactyly cleft lip palate", + "synonyms": [ + "Hartsfield syndrome" + ] + }, + { + "gard_id": "GARD:0002727", + "name": "Steinfeld syndrome", + "synonyms": [ + "Holoprosencephaly radial heart renal anomalies" + ] + }, + { + "gard_id": "GARD:0002728", + "name": "Holzgreve syndrome", + "synonyms": [ + "Complex congenital heart defect, renal agenesis and cleft lip and palate" + ] + }, + { + "gard_id": "GARD:0002730", + "name": "Homocarnosinosis", + "synonyms": [ + "Homocarnosinase deficiency" + ] + }, + { + "gard_id": "GARD:0002732", + "name": "Homocystinuria due to defect in methylation cbl e", + "synonyms": null + }, + { + "gard_id": "GARD:0002733", + "name": "Homocystinuria due to defect in methylation cbl g", + "synonyms": null + }, + { + "gard_id": "GARD:0002734", + "name": "Homocystinuria due to MTHFR deficiency", + "synonyms": [ + "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency", + "Methylenetetrahydro-folate reductase deficiency", + "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency", + "5,10-alpha-methylenetetrahydro-folate reductase deficiency", + "5,10 alpha methylenetetrahydro-folate reductase deficiency" + ] + }, + { + "gard_id": "GARD:0002736", + "name": "Hordnes Engebretsen Knudtson syndrome", + "synonyms": [ + "Acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation" + ] + }, + { + "gard_id": "GARD:0002737", + "name": "Horn Kolb syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002748", + "name": "Humeroradial synostosis", + "synonyms": [ + "Humero-radial synostosis", + "Humero-radial fusion" + ] + }, + { + "gard_id": "GARD:0002749", + "name": "Humeroradioulnar synostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0002750", + "name": "Trochlea of the humerus aplasia of", + "synonyms": [ + "Aplasia of trochlea of the humerus" + ] + }, + { + "gard_id": "GARD:0002754", + "name": "Hunter-McAlpine syndrome", + "synonyms": [ + "Hunter-mcalpine craniosynostosis syndrome", + "Hunter-mcalpine craniosynostosis", + "Craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature" + ] + }, + { + "gard_id": "GARD:0002755", + "name": "Hunter Mcdonald syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002764", + "name": "Hydatidosis", + "synonyms": null + }, + { + "gard_id": "GARD:0002765", + "name": "X-linked intellectual disability-plagiocephaly syndrome", + "synonyms": [ + "Mental retardation, X-linked, with craniofacial dysmorphism", + "Mental retardation, X-linked, Hyde-Forster type", + "Hyde Forster Mccarthy Berry syndrome" + ] + }, + { + "gard_id": "GARD:0002767", + "name": "Hydrocephalus autosomal recessive", + "synonyms": null + }, + { + "gard_id": "GARD:0002775", + "name": "Hydrocephalus obesity hypogonadism", + "synonyms": [ + "Congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism" + ] + }, + { + "gard_id": "GARD:0002776", + "name": "Hydrocephalus skeletal anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0002783", + "name": "Hydrops fetalis", + "synonyms": [ + "Idiopathic hydrops fetalis", + "Hydrops fetalis nonimmune", + "Familial non-immune hydrops fetalis" + ] + }, + { + "gard_id": "GARD:0002786", + "name": "Hygroma cervical", + "synonyms": [ + "Cystic hygroma of the neck (posterior)", + "Hygroma cervicis", + "Jugular lymphatic obstruction sequence", + "Nuchal lymphangioma" + ] + }, + { + "gard_id": "GARD:0002787", + "name": "Hymenolepiasis", + "synonyms": [ + "Hymenolepsis infection" + ] + }, + { + "gard_id": "GARD:0002788", + "name": "Hyper-IgD syndrome", + "synonyms": [ + "Hyper IgD syndrome", + "Hyperimmunoglobulinemia D and periodic fever syndrome", + "Periodic fever Dutch type", + "HIDS" + ] + }, + { + "gard_id": "GARD:0002789", + "name": "Familial hyperaldosteronism type 2", + "synonyms": [ + "Familial hyperaldosteronism type II", + "Familial adrenal adenoma", + "FH2", + "FHII" + ] + }, + { + "gard_id": "GARD:0002790", + "name": "Glucocorticoid-remediable aldosteronism", + "synonyms": [ + "Familial hyperaldosteronism type 1", + "Hyperaldosteronism, familial type 1", + "Dexamethasone sensitive hypertension", + "Glucocorticoid sensitive hypertension" + ] + }, + { + "gard_id": "GARD:0002791", + "name": "Hyperbilirubinemia transient familial neonatal", + "synonyms": null + }, + { + "gard_id": "GARD:0002793", + "name": "Hyperbilirubinemia type 2", + "synonyms": null + }, + { + "gard_id": "GARD:0002796", + "name": "Familial hypocalciuric hypercalcemia type 1", + "synonyms": [ + "Hypocalciuric hypercalcemia, familial, type 1", + "HHC1", + "Hypercalcemia, familial benign type 1", + "Familial benign hypercalcemia type 1", + "FBH1", + "FHH1", + "FHH type 1" + ] + }, + { + "gard_id": "GARD:0002800", + "name": "Hypercalcinuria macular coloboma", + "synonyms": null + }, + { + "gard_id": "GARD:0002804", + "name": "Hypereosinophilic syndrome", + "synonyms": [ + "HES", + "Hypereosinophilic syndrome, idiopathic" + ] + }, + { + "gard_id": "GARD:0002806", + "name": "Hyperferritinemia cataract syndrome", + "synonyms": [ + "Hereditary hyperferritinemia cataract syndrome", + "Cataract-hyperferritinemia syndrome", + "Bonneau-Beaumont syndrome" + ] + }, + { + "gard_id": "GARD:0002807", + "name": "Hyperglycerolemia", + "synonyms": [ + "Glycerol kinase deficiency", + "GKD", + "GK deficiency", + "GK1 deficiency" + ] + }, + { + "gard_id": "GARD:0002811", + "name": "Hypergonadotropic ovarian failure, familial or sporadic", + "synonyms": null + }, + { + "gard_id": "GARD:0002816", + "name": "Autosomal recessive hyper IgE syndrome", + "synonyms": [ + "DOCK8 deficiency", + "Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive", + "HIES autosomal recessive", + "AR-HIES", + "AR hyperimmunoglobulin E syndrome", + "Hyper Ig E syndrome, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0002818", + "name": "Hyperinsulinism due to glucokinase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002819", + "name": "Hyperinsulinism due to glutamodehydrogenase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002821", + "name": "Hyperinsulinism, diffuse", + "synonyms": null + }, + { + "gard_id": "GARD:0002824", + "name": "Hyperkeratosis lenticularis perstans", + "synonyms": [ + "HLP", + "Flegel disease", + "Flegel's disease", + "Hyperkeratosis lenticularis perstans of Flegel" + ] + }, + { + "gard_id": "GARD:0002826", + "name": "Epidermolytic palmoplantar keratoderma", + "synonyms": [ + "Hyperkeratosis palmoplantar localized epidermolytic", + "Diffuse erythrodermic palmoplantar keratoderma, Vörner type", + "Epidermolytic palmoplantar keratoderma of Voerner", + "Epidermolytic palmoplantar keratoderma of Vörner", + "EPPK", + "Tylosis", + "Keratosis of Greither" + ] + }, + { + "gard_id": "GARD:0002828", + "name": "Hyperlysinemia", + "synonyms": [ + "Lysine alpha-ketoglutarate reductase deficiency", + "Alpha-aminoadipic semialdehyde synthase deficiency", + "L-lysine NAD-oxido-reductase deficiency", + "Lysine intolerance" + ] + }, + { + "gard_id": "GARD:0002830", + "name": "Ornithine translocase deficiency syndrome", + "synonyms": [ + "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", + "HHH syndrome", + "HHHS", + "HHH", + "Ornithine translocase deficiency" + ] + }, + { + "gard_id": "GARD:0002831", + "name": "Juvenile Paget disease", + "synonyms": [ + "JPD", + "Hyperostosis corticalis deformans juvenilis", + "Hyperphosphatasia, familial idiopathic", + "Hyperphosphatasemia, chronic congenital idiopathic", + "Paget disease juvenile type", + "Paget disease of bone 5, juvenile-onset", + "Hereditary hyperphosphatasia", + "Hyperostosid corticalis deformans juvenilis", + "JPG", + "Juvenile Pagets disease" + ] + }, + { + "gard_id": "GARD:0002833", + "name": "Hyperostosis corticalis generalisata", + "synonyms": [ + "Van Buchem disease", + "VBCH", + "Hyperphosphatasemia tarda", + "Endosteal hyperostosis autosomal recessive" + ] + }, + { + "gard_id": "GARD:0002835", + "name": "Primary hyperoxaluria type 1", + "synonyms": [ + "HP1", + "Oxalosis 1", + "Glycolic aciduria", + "Alanine-glyoxylate aminotransferase deficiency", + "Peroxisomal alanine glyoxylate aminotransferase deficiency", + "Hepatic AGT deficiency", + "Serine pyruvate aminotransferase deficiency" + ] + }, + { + "gard_id": "GARD:0002836", + "name": "Primary hyperoxaluria type 2", + "synonyms": [ + "HP2", + "Oxalosis 2", + "Glyoxylate reductase/hydroxypyruvate reductase deficiency", + "Glyceric aciduria", + "D-glycerate dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0002837", + "name": "Familial isolated hyperparathyroidism", + "synonyms": [ + "Hyperparathyroidism 1", + "HRPT1", + "Hyperparathyroidism, familial isolated primary", + "FIHP", + "Familial primary hyperparathyroidism" + ] + }, + { + "gard_id": "GARD:0002838", + "name": "Neonatal severe hyperparathyroidism", + "synonyms": null + }, + { + "gard_id": "GARD:0002843", + "name": "Hyperphenylalaninemia due to dehydratase deficiency", + "synonyms": [ + "Dehydratase deficiency", + "Hyperphenylalaninemia with Primapterinuria", + "Hyperphenylalaninemia, BH4-deficient, D", + "Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency", + "Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency", + "Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency", + "CADH deficiency", + "PCBD deficiency", + "Pterin-4 alpha-carbinolamine dehydratase deficiency" + ] + }, + { + "gard_id": "GARD:0002844", + "name": "GTP cyclohydrolase I deficiency", + "synonyms": [ + "Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency", + "Hyperphenylalaninemia, BH4-Deficient, B" + ] + }, + { + "gard_id": "GARD:0002847", + "name": "Hyperprolinemia", + "synonyms": [ + "Proline oxidase deficiency", + "Proline hydrogenase deficiency", + "Hyperprolinemia type 1" + ] + }, + { + "gard_id": "GARD:0002848", + "name": "Hypertelorism and tetralogy of Fallot", + "synonyms": null + }, + { + "gard_id": "GARD:0002856", + "name": "Hyperthermia induced defects", + "synonyms": null + }, + { + "gard_id": "GARD:0002858", + "name": "Familial hyperthyroidism due to mutations in TSH receptor", + "synonyms": [ + "Familial non-immune hyperthyroidism", + "Nonautoimmune hyperthyroidism", + "Resistance to thyroid stimulating hormone" + ] + }, + { + "gard_id": "GARD:0002863", + "name": "X-linked congenital generalized hypertrichosis", + "synonyms": [ + "HTC2", + "CGH", + "HCG", + "Macias-Flores Garcia-Cruz Rivera syndrome", + "Chromosome Xq27.1 interchromosomal insertion syndrome", + "Hypertrichosis congenital generalized X-linked", + "Congenital generalized hypertrichosis, Macias-Flores type", + "Macias Flores-Garcia Cruz-Rivera syndrome" + ] + }, + { + "gard_id": "GARD:0002864", + "name": "Hypertrichosis lanuginosa, acquired", + "synonyms": null + }, + { + "gard_id": "GARD:0002865", + "name": "Hypertrichosis lanuginosa congenita", + "synonyms": [ + "Hypertrichosis universalis", + "Congenital hypertrichosis lanuginosa", + "CHL", + "Hypertrichosis lanuginosa universalis" + ] + }, + { + "gard_id": "GARD:0002871", + "name": "Hypertryptophanemia", + "synonyms": null + }, + { + "gard_id": "GARD:0002872", + "name": "Familial HDL deficiency", + "synonyms": [ + "Hypoalphalipoproteinemia, familial", + "FHA", + "High density lipoprotein deficiency", + "HDLD", + "Hypoalphalipoproteinemia, primary", + "FHD" + ] + }, + { + "gard_id": "GARD:0002874", + "name": "Hypoaldosteronism", + "synonyms": null + }, + { + "gard_id": "GARD:0002876", + "name": "Familial hypobetalipoproteinemia", + "synonyms": [ + "Hypobetalipoproteinemia, familial", + "FHBL" + ] + }, + { + "gard_id": "GARD:0002877", + "name": "Hypocalcemia, autosomal dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0002878", + "name": "Familial hypocalciuric hypercalcemia type 3", + "synonyms": [ + "HHC3", + "Familial benign hypercalcemia, type 3", + "FBH3", + "Hypercalcemia, familial benign, type 3", + "Hypercalcemia, familial benign, Oklahoma type", + "Familial benign hypercalcemia, Oklahoma variant", + "FBHOk", + "Hypocalciuric hypercalcemia, familial, type 3" + ] + }, + { + "gard_id": "GARD:0002882", + "name": "Achondrogenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0002883", + "name": "Hypodermyasis", + "synonyms": null + }, + { + "gard_id": "GARD:0002887", + "name": "Hypofibrinogenemia, familial", + "synonyms": null + }, + { + "gard_id": "GARD:0002889", + "name": "Hypoglycemia with deficiency of glycogen synthetase in the liver", + "synonyms": null + }, + { + "gard_id": "GARD:0002895", + "name": "Hypogonadism primary partial alopecia", + "synonyms": null + }, + { + "gard_id": "GARD:0002897", + "name": "Hypogonadism, isolated, hypogonadotropic", + "synonyms": null + }, + { + "gard_id": "GARD:0002905", + "name": "Familial dilated cardiomyopathy", + "synonyms": [ + "Dilated cardiomyopathy, familial", + "Cardiomyopathy, familial dilated", + "Hypokinetic dilated cardiomyopathy, familial" + ] + }, + { + "gard_id": "GARD:0002906", + "name": "Familial primary hypomagnesemia", + "synonyms": [ + "Genetic primary hypomagnesemia" + ] + }, + { + "gard_id": "GARD:0002907", + "name": "Hypomandibular faciocranial dysostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0002908", + "name": "Hypomelia mullerian duct anomalies", + "synonyms": [ + "Limb uterus syndrome", + "Severe upper limb hypoplasia and Mullerian duct anomalies" + ] + }, + { + "gard_id": "GARD:0002910", + "name": "Familial isolated hypoparathyroidism", + "synonyms": null + }, + { + "gard_id": "GARD:0002911", + "name": "Barakat syndrome", + "synonyms": [ + "Hypoparathyroidism, sensorineural deafness, and renal dysplasia", + "HDR syndrome", + "Nephrosis, nerve deafness, and hypoparathyroidism" + ] + }, + { + "gard_id": "GARD:0002914", + "name": "Hypoparathyroidism X-linked", + "synonyms": null + }, + { + "gard_id": "GARD:0002917", + "name": "Hypopituitarism", + "synonyms": [ + "Pituitary insufficiency" + ] + }, + { + "gard_id": "GARD:0002922", + "name": "Hypoplastic right heart syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0002926", + "name": "Prothrombin deficiency", + "synonyms": [ + "Hypoprothrombinemia, inherited", + "Congenital factor II deficiency", + "Dysprothrombinemia", + "Inherited prothrombin deficiency", + "Inherited hypoprothrombinemia", + "Factor II deficiency" + ] + }, + { + "gard_id": "GARD:0002928", + "name": "Hypospadias-intellectual disability, Goldblatt type syndrome", + "synonyms": [ + "Hypospadias intellectual deficit Goldblatt type", + "Goldblatt Wallis syndrome", + "Hypospadias mental retardation syndrome (formerly)" + ] + }, + { + "gard_id": "GARD:0002929", + "name": "Hypospadias familial", + "synonyms": null + }, + { + "gard_id": "GARD:0002930", + "name": "Hypotelorism cleft palate hypospadias", + "synonyms": [ + "Schilbach-Rott syndrome", + "Ocular hypotelorism, submucosal cleft palate, and hypospadias", + "Blepharofacioskeletal syndrome" + ] + }, + { + "gard_id": "GARD:0002934", + "name": "Hypothalamic hamartomas", + "synonyms": [ + "Hamartoma of the hypothalamus" + ] + }, + { + "gard_id": "GARD:0002938", + "name": "Hypothyroidism due to iodide transport defect", + "synonyms": null + }, + { + "gard_id": "GARD:0002943", + "name": "Hypoxanthine guanine phosphoribosyltransferase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0002945", + "name": "ICF syndrome", + "synonyms": [ + "Immunodeficiency-centromeric instability-facial anomalies syndrome", + "Immunodeficiency syndrome, variable", + "Centromeric instability, immunodeficiency syndrome", + "CIID", + "Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16" + ] + }, + { + "gard_id": "GARD:0002946", + "name": "Ichthyosiform erythroderma, corneal involvement, deafness", + "synonyms": [ + "Keratitis-ichthyosis-deafness syndrome, autosomal recessive", + "KID syndrome, autosomal recessive", + "Desmons syndrome" + ] + }, + { + "gard_id": "GARD:0002947", + "name": "Ichthyosis cheek eyebrow syndrome", + "synonyms": [ + "Sidransky Feinstein Goodman syndrome" + ] + }, + { + "gard_id": "GARD:0002948", + "name": "Ichthyosis congenita biliary atresia", + "synonyms": [ + "Congenital ichthyosis with biliary atresia" + ] + }, + { + "gard_id": "GARD:0002952", + "name": "Ichthyosis follicularis atrichia photophobia syndrome", + "synonyms": [ + "IFAP syndrome" + ] + }, + { + "gard_id": "GARD:0002954", + "name": "Ichthyosis hystrix, Curth Macklin type", + "synonyms": [ + "Curth-Macklin type ichthyosis hystrix", + "IHCM" + ] + }, + { + "gard_id": "GARD:0002957", + "name": "Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin", + "synonyms": null + }, + { + "gard_id": "GARD:0002960", + "name": "Ichthyosis tapered fingers midline groove up", + "synonyms": [ + "Oral and digital anomalies with ichthyosis", + "Unusual facies, digital abnormalities, and ichthyosis" + ] + }, + { + "gard_id": "GARD:0002966", + "name": "Ichthyosis bullosa of Siemens", + "synonyms": [ + "Ichthyosis, bullous type", + "Bullous type of ichthyosis", + "IBS" + ] + }, + { + "gard_id": "GARD:0002967", + "name": "Ichthyosis linearis circumflexa", + "synonyms": null + }, + { + "gard_id": "GARD:0002969", + "name": "Nystagmus 1, congenital, X- linked", + "synonyms": [ + "NYS1", + "Nystagmus, congenital motor, 1" + ] + }, + { + "gard_id": "GARD:0002978", + "name": "Iridogoniodysgenesis type 1", + "synonyms": [ + "Iridogoniodysgenesis anomaly, Autosomal dominant", + "IRID1", + "IGDA", + "IGDA syndrome" + ] + }, + { + "gard_id": "GARD:0002981", + "name": "Immotile cilia syndrome, due to defective radial spokes", + "synonyms": [ + "Cilia with defective radial spokes" + ] + }, + { + "gard_id": "GARD:0002982", + "name": "Ciliary dyskinesia with excessively long cilia", + "synonyms": [ + "Immotile cilia syndrome due to excessively long cilia" + ] + }, + { + "gard_id": "GARD:0002984", + "name": "Immune deficiency, familial variable", + "synonyms": null + }, + { + "gard_id": "GARD:0002988", + "name": "Short-limb skeletal dysplasia with severe combined immunodeficiency", + "synonyms": [ + "SLSD with SCID", + "Achondroplasia so-called and severe combined immunodeficiency", + "Achondroplasia-SCID syndrome", + "Achondroplasia-severe combined immunodeficiency syndrome", + "Achondroplasia-Swiss type agammaglobulinemia syndrome", + "Immunodeficiency-short limb dwarfism syndrome", + "Short limb skeletal dysplasia with SCID" + ] + }, + { + "gard_id": "GARD:0002989", + "name": "Imperforate oropharynx-costo vetebral anomalies", + "synonyms": [ + "Seghers syndrome" + ] + }, + { + "gard_id": "GARD:0002992", + "name": "Hypomelanosis of Ito", + "synonyms": [ + "Ito hypomelanosis", + "ITO", + "Incontinentia pigmenti achromians", + "IPA", + "Incontinentia pigmenti type 1 (formerly)" + ] + }, + { + "gard_id": "GARD:0002994", + "name": "Fetal indomethacin syndrome", + "synonyms": [ + "Antenatal indomethacin exposure", + "Indomethacin embryofetopathy" + ] + }, + { + "gard_id": "GARD:0002995", + "name": "Infant epilepsy with migrant focal crisis", + "synonyms": null + }, + { + "gard_id": "GARD:0002996", + "name": "Infantile axonal neuropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0002998", + "name": "Infantile myofibromatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0003002", + "name": "Infantile spasms broad thumbs", + "synonyms": [ + "Tsao Ellingson syndrome" + ] + }, + { + "gard_id": "GARD:0003004", + "name": "Infantile striato thalamic degeneration", + "synonyms": null + }, + { + "gard_id": "GARD:0003005", + "name": "Infundibulopelvic dysgenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0003006", + "name": "Congenital insensitivity to pain with anhidrosis", + "synonyms": [ + "Neuropathy, congenital sensory, with anhidrosis", + "CIPA", + "Hereditary sensory and autonomic neuropathy 4", + "HSAN 4", + "Familial dysautonomia, type 2", + "Insensitivity to pain, congenital, with anhidrosis", + "Hereditary sensory neuropathy type IV", + "HSNAN4", + "HSAN IV", + "Familial dysautonomia, type II" + ] + }, + { + "gard_id": "GARD:0003007", + "name": "Mosaic variegated aneuploidy syndrome", + "synonyms": [ + "MVA syndrome", + "Warburton-Anyane-Yeboa syndrome" + ] + }, + { + "gard_id": "GARD:0003008", + "name": "Insulin-resistant acanthosis nigricans, type A", + "synonyms": [ + "Type A insulin resistance syndrome", + "Diabetes mellitus, insulin-resistant, with acanthosis nigricans", + "IRAN, type A" + ] + }, + { + "gard_id": "GARD:0003009", + "name": "Insulin-resistance type B", + "synonyms": null + }, + { + "gard_id": "GARD:0003010", + "name": "Insulinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0003011", + "name": "Interferon gamma, receptor 1, deficiency", + "synonyms": [ + "IFNGR1 deficiency" + ] + }, + { + "gard_id": "GARD:0003012", + "name": "Internal carotid agenesis", + "synonyms": [ + "Agenesis of the internal carotid artery", + "Internal carotid artery agenesis" + ] + }, + { + "gard_id": "GARD:0003013", + "name": "Intestinal atresia multiple", + "synonyms": [ + "Familial intestinal polyatresia syndrome" + ] + }, + { + "gard_id": "GARD:0003017", + "name": "Intestinal pseudoobstruction neuronal chronic idiopathic X-linked", + "synonyms": [ + "IPOX", + "Congenital idiopathic intestinal pseudoobstruction", + "CIIP", + "CIIP X-linked", + "CIIPX" + ] + }, + { + "gard_id": "GARD:0003020", + "name": "Intracranial arteriovenous malformation", + "synonyms": [ + "Intracranial AVM", + "Cerebral arteriovenous malformation" + ] + }, + { + "gard_id": "GARD:0003024", + "name": "Intrinsic factor deficiency", + "synonyms": [ + "IFD", + "Pernicious anemia, congenital, due to defect of intrinsic factor", + "Congenital pernicious anemia due to defect of intrinsic factor", + "Intrinsic factor, congenital deficiency of", + "Congenital intrinsic factor deficiency" + ] + }, + { + "gard_id": "GARD:0003025", + "name": "Iodine antenatal exposure", + "synonyms": [ + "Neonatal iodine exposure" + ] + }, + { + "gard_id": "GARD:0003026", + "name": "Iridogoniodysgenesis type 2", + "synonyms": [ + "IRID2" + ] + }, + { + "gard_id": "GARD:0003030", + "name": "Small patella syndrome", + "synonyms": [ + "Scott-Taor syndrome", + "Coxo-podo-patellar syndrome", + "Ischiopatellar dysplasia", + "Patella aplasia, coxa vara, tarsal synostosis", + "Congenital coxa vara, patella aplasia and tarsal synostosis", + "ischiocoxopodopatellar syndrome" + ] + }, + { + "gard_id": "GARD:0003033", + "name": "Cystoisosporiasis", + "synonyms": [ + "Isosporiasis" + ] + }, + { + "gard_id": "GARD:0003040", + "name": "Jaffer Beighton syndrome", + "synonyms": [ + "Arachnodactyly, joint laxity, and spondylolisthesis" + ] + }, + { + "gard_id": "GARD:0003045", + "name": "Neuronal ceroid lipofuscinosis 2", + "synonyms": [ + "CLN2", + "Jansky-Bielschowsky disease", + "CLN2 disease, late infantile (subtype)", + "CLN2 disease, juvenile (subtype)" + ] + }, + { + "gard_id": "GARD:0003047", + "name": "Spondylometaphyseal dysplasia, Kozlowski type", + "synonyms": [ + "Dysmorphism arthrogryposis skeletal maturation advanced", + "Jequier-Kozlowski syndrome", + "Skeletal dysplasia Jequier-Kozlowski type", + "SMD Kozlowski type", + "Jequier Kozlowski skeletal dysplasia" + ] + }, + { + "gard_id": "GARD:0003048", + "name": "Jervell Lange-Nielsen syndrome", + "synonyms": [ + "JLNS1", + "Deafness, congenital, and functional heart disease", + "Prolonged QT interval in EKG and sudden death", + "Cardioauditory syndrome of Jervell and Lange-Nielsen", + "Surdo-cardiac syndrome", + "Jervell and Lange-Nielsen syndrome", + "Long QT interval-deafness syndrome" + ] + }, + { + "gard_id": "GARD:0003049", + "name": "Jeune syndrome", + "synonyms": [ + "Asphyxiating thoracic dystrophy", + "Infantile thoracic dystrophy", + "Thoracic pelvic phalangeal dystrophy", + "Jeune's syndrome", + "Chondroectodermal dysplasia-like syndrome", + "ATD", + "Asphyxiating thoracic dystrophy of the newborn", + "JATD", + "Jeune asphyxiating thoracic dystrophy" + ] + }, + { + "gard_id": "GARD:0003051", + "name": "Johnson Munson syndrome", + "synonyms": [ + "Aphalangy with Hemivertebrae", + "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" + ] + }, + { + "gard_id": "GARD:0003053", + "name": "Johnston Aarons Schelley syndrome", + "synonyms": [ + "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns", + "Arthrogryposis with Hyperkeratosis" + ] + }, + { + "gard_id": "GARD:0003054", + "name": "Familial joint instability syndrome", + "synonyms": [ + "Familial joint instability syndrome", + "Joint instability syndrome", + "Articular hypermobility syndrome", + "Ehlers-danlos syndrome, type 11 (formerly)", + "EDS 11 (formerly)", + "Joint laxity, Familial" + ] + }, + { + "gard_id": "GARD:0003055", + "name": "Jones Hersh Yusk syndrome", + "synonyms": [ + "Aplasia cutis cleft palate epidermolysis", + "Ptosis, ectropion, thin skin, beaked nose", + "Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly" + ] + }, + { + "gard_id": "GARD:0003056", + "name": "Jones syndrome", + "synonyms": [ + "Gingival fibromatosis with progressive deafness", + "GFD", + "Gingival fibromatosis with sensorineural hearing loss", + "Familial gingival fibromatosis associated with progressive deafness" + ] + }, + { + "gard_id": "GARD:0003057", + "name": "Jorgenson Lenz syndrome", + "synonyms": [ + "Blepharophimosis radioulnar synostosis", + "Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism", + "Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis" + ] + }, + { + "gard_id": "GARD:0003060", + "name": "Juberg-Hayward syndrome", + "synonyms": [ + "Cleft lip/palate with abnormal thumbs and microcephaly", + "Orocraniodigital syndrome", + "JHS" + ] + }, + { + "gard_id": "GARD:0003061", + "name": "Judge Misch Wright syndrome", + "synonyms": [ + "Keratodermia palmoplantar periorificial", + "Dry skin, photophobia hyperkeratosis, abnormal fingernails", + "Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" + ] + }, + { + "gard_id": "GARD:0003062", + "name": "Jung Wolff Back Stahl syndrome", + "synonyms": [ + "Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" + ] + }, + { + "gard_id": "GARD:0003065", + "name": "Juvenile polyposis syndrome", + "synonyms": [ + "JPS", + "Polyposis juvenile intestinal", + "PJI", + "Juvenile intestinal polyposis", + "JIP", + "Polyposis familial of entire gastrointestinal tract" + ] + }, + { + "gard_id": "GARD:0003066", + "name": "Juvenile macular degeneration and hypotrichosis", + "synonyms": [ + "Hypotrichosis, congenital, with juvenile macular dystrophy", + "HJMD", + "Juvenile macular dystrophy and congenital hypotrichosis" + ] + }, + { + "gard_id": "GARD:0003068", + "name": "Juvenile temporal arteritis", + "synonyms": [ + "Juvenile giant cell arteritis", + "JGCA", + "Juvenile cranial arteritis", + "Juvenile polymyalgia rheumatica", + "JPMR" + ] + }, + { + "gard_id": "GARD:0003070", + "name": "Kallmann syndrome 2", + "synonyms": [ + "KAL2" + ] + }, + { + "gard_id": "GARD:0003071", + "name": "Kallmann syndrome 1", + "synonyms": [ + "KAL1", + "Kallmann syndrome, X-linked", + "Kallmann syndrome, type 1, X-linked" + ] + }, + { + "gard_id": "GARD:0003073", + "name": "Kallmann syndrome 3", + "synonyms": [ + "KAL3" + ] + }, + { + "gard_id": "GARD:0003074", + "name": "Mesomelic dysplasia Kantaputra type", + "synonyms": [ + "MMDK", + "MDK", + "Mesomelic dysplasia with ankle carpal and tarsal synostosis", + "Kantaputra mesomelic dysplasia", + "Mesomelic dysplasia Thai type" + ] + }, + { + "gard_id": "GARD:0003075", + "name": "Kaplan Plauchu Fitch syndrome", + "synonyms": [ + "Acrocraniofacial dysostosis" + ] + }, + { + "gard_id": "GARD:0003077", + "name": "Kaposiform Hemangioendothelioma", + "synonyms": [ + "KH", + "Congenital cutaneous multifocal kaposiform hemangioendothelioma", + "KHE", + "Kaposiform hemangio-endothelioma" + ] + }, + { + "gard_id": "GARD:0003078", + "name": "Kapur Toriello syndrome", + "synonyms": [ + "Long columella with cleft lip/palate and eye, heart and intestinal anomalies" + ] + }, + { + "gard_id": "GARD:0003080", + "name": "Kasznica Carlson Coppedge syndrome", + "synonyms": [ + "Ectrodactyly spina bifida cardiopathy", + "Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery" + ] + }, + { + "gard_id": "GARD:0003081", + "name": "Katsantoni Papadakou Lagoyanni syndrome", + "synonyms": [ + "Trichodermal syndrome and mental retardation" + ] + }, + { + "gard_id": "GARD:0003084", + "name": "Kaufman oculocerebrofacial syndrome", + "synonyms": [ + "KOS", + "Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" + ] + }, + { + "gard_id": "GARD:0003086", + "name": "PAGOD syndrome", + "synonyms": [ + "Pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia", + "Kennerknecht Sorgo Oberhoffer syndrome", + "Agonadism with multiple internal malformations", + "Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" + ] + }, + { + "gard_id": "GARD:0003089", + "name": "Hereditary keratitis", + "synonyms": [ + "Dominantly inherited keratitis" + ] + }, + { + "gard_id": "GARD:0003090", + "name": "Multiple self healing squamous epithelioma", + "synonyms": [ + "Ferguson-Smith type epithelioma", + "MSSE", + "ESS1 (formerly)" + ] + }, + { + "gard_id": "GARD:0003091", + "name": "Keratoconus posticus circumscriptus", + "synonyms": [ + "KPC" + ] + }, + { + "gard_id": "GARD:0003092", + "name": "Vohwinkel syndrome", + "synonyms": [ + "Deafness, congenital, with keratopachydermia and constrictions of fingers and toes", + "Mutilating keratoderma", + "Keratoderma hereditarium mutilans", + "KHM" + ] + }, + { + "gard_id": "GARD:0003094", + "name": "Keratoderma palmoplantar deafness", + "synonyms": [ + "Keratoderma palmoplantar, with deafness", + "Palmoplantar keratoderma and sensorineural deafness", + "Hereditary palmoplantar keratoderma with deafness (subtype)", + "Focal palmoplantar keratoderma with sensorineural deafness (subtype)", + "Diffuse palmoplantar keratoderma with deafness (subtype)" + ] + }, + { + "gard_id": "GARD:0003095", + "name": "Keratoderma palmoplantar spastic paralysis", + "synonyms": [ + "Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy", + "Axonal neuropathy with palmoplantar keratoderma", + "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy", + "Palmoplantar keratoderma-spastic paralysis syndrome", + "Powell-Venencie-Gordon syndrome" + ] + }, + { + "gard_id": "GARD:0003096", + "name": "Keratoderma palmoplantaris transgrediens", + "synonyms": [ + "Erythrokeratodermia figurata, congenital familial, in plaques", + "Erythrokeratodermia variabilis with erythema gyratum repens", + "Greither disease", + "Keratosis palmoplantaris transgrediens et progrediens", + "Greither's disease", + "Keratosis extremitatum hereditaria progrediens", + "Transgrediens et progrediens palmoplantar keratoderma" + ] + }, + { + "gard_id": "GARD:0003098", + "name": "Focal palmoplantar and gingival keratoderma", + "synonyms": [ + "Focal palmoplantar and oral mucosa hyperkeratosis", + "Keratosis focal palmoplantar gingival" + ] + }, + { + "gard_id": "GARD:0003099", + "name": "Keratosis follicularis dwarfism and cerebral atrophy", + "synonyms": [ + "Dwarfism, cerebral atrophy and generalized keratosis follicularis" + ] + }, + { + "gard_id": "GARD:0003100", + "name": "Papillon Lefevre syndrome", + "synonyms": [ + "Hyperkeratosis palmoplantaris with periodontosis", + "Keratoris palmoplantaris with periodontopathia", + "Palmar-plantar hyperkeratosis and concomitant periodontal destruction", + "Keratosis palmoplantaris with periodontopathia", + "Palmoplantar keratoderma with periodontosis", + "Keratosis palmoplantar - periodontopathy", + "Papillon-Lefèvre syndrome", + "Keratosis palmoplantar-periodontopathy syndrome" + ] + }, + { + "gard_id": "GARD:0003102", + "name": "Tylosis with esophageal cancer", + "synonyms": [ + "TOC", + "Keratosis palmoplantaris with esophageal cancer", + "Howel-Evans syndrome", + "Keratosis palmaris et plantaris with esophageal cancer", + "Palmoplantar keratoderma-esophageal carcinoma syndrome", + "Bennion-Patterson syndrome", + "Howell-Evans syndrome", + "Keratosis palmoplantaris-esophageal carcinoma syndrome", + "Palmoplantar hyperkeratosis-esophageal carcinoma syndrome", + "Tylosis - oesophageal carcinoma", + "Tylosis-oesophageal carcinoma syndrome" + ] + }, + { + "gard_id": "GARD:0003103", + "name": "Punctate palmoplantar keratoderma type I", + "synonyms": [ + "Brauer-Buschke-Fischer syndrome", + "Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type", + "Type I punctate palmoplantar keratoderma", + "Keratoderma, palmoplantar punctate type 1", + "Keratosis palmoplantaris papulosa", + "Punctate palmoplantar keratoderma type 1" + ] + }, + { + "gard_id": "GARD:0003105", + "name": "Tyrosinemia type 2", + "synonyms": [ + "Tyrosinemia type II", + "Richner Hanhart syndrome", + "TAT deficiency", + "Tyrosine transaminase deficiency", + "Keratosis palmoplantaris with corneal dystrophy", + "Oregon type tyrosinemia", + "Tyrosinosis oculocutaneous type", + "Tyrosine aminotransferase deficiency", + "Oculocutaneous tyrosinemia" + ] + }, + { + "gard_id": "GARD:0003109", + "name": "Kerion celsi", + "synonyms": [ + "Susceptibility to Tinea imbricata", + "Trichophyton infection", + "Trichophytia profunda capitis", + "Trichophytia profunda barbae", + "Tinea capitis profunda" + ] + }, + { + "gard_id": "GARD:0003112", + "name": "Anaplastic large cell lymphoma", + "synonyms": [ + "ALCL" + ] + }, + { + "gard_id": "GARD:0003113", + "name": "KID syndrome", + "synonyms": [ + "Keratitis-ichthyosis-deafness syndrome, autosomal dominant", + "KID syndrome, autosomal dominant", + "Keratitis, Ichthyosis, and Deafness (KID) Syndrome", + "KID/HID syndrome", + "Senter syndrome", + "Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome", + "Ichthyosis hystrix Rheydt type" + ] + }, + { + "gard_id": "GARD:0003115", + "name": "Kleeblattschaedel syndrome", + "synonyms": [ + "Cloverleaf skull syndrome", + "Kleeblattschaedel deformity syndrome", + "Isolated cloverleaf skull syndrome" + ] + }, + { + "gard_id": "GARD:0003117", + "name": "Kleine Levin syndrome", + "synonyms": [ + "Kleine-Levin hibernation syndrome", + "Familial Kleine-Levin syndrome", + "Familial hibernation syndrome" + ] + }, + { + "gard_id": "GARD:0003118", + "name": "Kleiner Holmes syndrome", + "synonyms": [ + "Hallux varus and preaxial polysyndactyly" + ] + }, + { + "gard_id": "GARD:0003122", + "name": "Klippel-Trenaunay syndrome", + "synonyms": [ + "Klippel Trenaunay syndrome", + "Klippel-Trenaunay-Weber syndrome", + "KTW syndrome", + "Weber-Klippel-Trenaunay", + "Angio-osteohypertrophy syndrome", + "KTS", + "Klippel-Trénaunay-Weber syndrome" + ] + }, + { + "gard_id": "GARD:0003123", + "name": "Klumpke paralysis", + "synonyms": [ + "Lower brachial plexus palsy", + "Dejerine-Klumpke palsy", + "Klumpke's palsy" + ] + }, + { + "gard_id": "GARD:0003124", + "name": "Kniest like dysplasia lethal", + "synonyms": [ + "Lethal Kniest-like dysplasia", + "Arthrosis, flat face, hypotonia, short neck and macrocephaly" + ] + }, + { + "gard_id": "GARD:0003125", + "name": "Knuckle pads, leuconychia and sensorineural deafness", + "synonyms": [ + "Bart-Pumphrey syndrome", + "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome", + "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" + ] + }, + { + "gard_id": "GARD:0003126", + "name": "Familial partial lipodystrophy type 2", + "synonyms": [ + "FPLD2", + "Lipodystrophy, familial partial, Dunnigan type", + "Lipodystrophy, familial, of limbs and lower trunk", + "Lipodystrophy, reverse partial", + "Lipoatrophic diabetes", + "FPL2", + "Lipodystrophy, familial partial, type 2", + "Dunnigan syndrome", + "Familial partial lipodystrophy, Dunnigan type" + ] + }, + { + "gard_id": "GARD:0003128", + "name": "Kohlschutter Tonz syndrome", + "synonyms": [ + "Epilepsy dementia amelogenesis imperfecta", + "Kohlschutter syndrome", + "Epilepsy and yellow teeth" + ] + }, + { + "gard_id": "GARD:0003129", + "name": "Hereditary hyperekplexia", + "synonyms": [ + "Startle disease, familial", + "Startle reaction, exaggerated", + "Exaggerated startle reaction", + "STHE", + "Stiff-baby syndrome", + "Stiff-man syndrome, congenital", + "Stiff-person syndrome, congenital", + "Kok disease", + "Hyperexplexia hereditary" + ] + }, + { + "gard_id": "GARD:0003131", + "name": "Koone Rizzo Elias syndrome", + "synonyms": [ + "Ichthyosis, mental retardation and asymptomatic spasticity" + ] + }, + { + "gard_id": "GARD:0003134", + "name": "Kotzot-Richter syndrome", + "synonyms": [ + "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies", + "Albinism with immune and hematologic defects" + ] + }, + { + "gard_id": "GARD:0003136", + "name": "Kozlowski Brown Hardwick syndrome", + "synonyms": [ + "Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" + ] + }, + { + "gard_id": "GARD:0003139", + "name": "Kozlowski Ouvrier syndrome", + "synonyms": [ + "Agenesis of the corpus callosum with mental retardation and osseous lesions" + ] + }, + { + "gard_id": "GARD:0003140", + "name": "Kozlowski Rafinski Klicharska syndrome", + "synonyms": [ + "Metaphyseal and epiphyseal dysplasia with unusual facies and cataract" + ] + }, + { + "gard_id": "GARD:0003141", + "name": "Kozlowski-Krajewska syndrome", + "synonyms": [ + "Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair", + "Intellectual disability-polydactyly-uncombable hair syndrome" + ] + }, + { + "gard_id": "GARD:0003143", + "name": "Krauss Herman Holmes syndrome", + "synonyms": [ + "Telecanthus, hypertelorism, strabismus, and pes cavus syndrome" + ] + }, + { + "gard_id": "GARD:0003144", + "name": "Krieble Bixler syndrome", + "synonyms": [ + "Autosomal dominant blepharophimosis with multiple congenital anomalies" + ] + }, + { + "gard_id": "GARD:0003150", + "name": "Kuskokwim disease", + "synonyms": [ + "Arthrogryposis-like disorder", + "Kuskokwim syndrome", + "Arthrogryposis-like syndrome", + "Bruck syndrome-1" + ] + }, + { + "gard_id": "GARD:0003152", + "name": "Kuster syndrome", + "synonyms": [ + "Cleft lip palate lip pits limb deficiency", + "Cleft lip and palate, lower lip pits, and limb deficiency defects" + ] + }, + { + "gard_id": "GARD:0003157", + "name": "Lachiewicz Sibley syndrome", + "synonyms": [ + "Hereditary renal disease and preauricular pits" + ] + }, + { + "gard_id": "GARD:0003159", + "name": "Lactate dehydrogenase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0003160", + "name": "Lactate dehydrogenase A deficiency", + "synonyms": [ + "Lactate dehydrogenase deficiency type A", + "Glycogen Storage Disease XI" + ] + }, + { + "gard_id": "GARD:0003161", + "name": "Lactate dehydrogenase B deficiency", + "synonyms": [ + "Lactate dehydrogenase deficiency type B", + "LDH deficiency B", + "LDHBD" + ] + }, + { + "gard_id": "GARD:0003163", + "name": "Lactic acidosis congenital infantile", + "synonyms": null + }, + { + "gard_id": "GARD:0003168", + "name": "Lambdoid synostosis", + "synonyms": [ + "Craniosynostosis, lambdoidal" + ] + }, + { + "gard_id": "GARD:0003169", + "name": "Lambert syndrome", + "synonyms": [ + "Branchial dysplasia clubfoot inguinal hernia and biliary atresia" + ] + }, + { + "gard_id": "GARD:0003170", + "name": "Ichthyosis lamellar 1", + "synonyms": [ + "Ichthyosis congenita", + "Lamellar exfoliation of newborn", + "Desquamation of newborn", + "Collodion fetus", + "Lamellar ichthyosis, type 1", + "LI1" + ] + }, + { + "gard_id": "GARD:0003172", + "name": "Landy-Donnai syndrome", + "synonyms": [ + "Hydrops, ectrodactyly, syndactyly, duplication of the great toes" + ] + }, + { + "gard_id": "GARD:0003174", + "name": "Langer Nishino Yamaguchi syndrome", + "synonyms": [ + "Brachymesomelia-renal syndrome" + ] + }, + { + "gard_id": "GARD:0003178", + "name": "Diffuse Large B-Cell Lymphoma", + "synonyms": [ + "DLBCL" + ] + }, + { + "gard_id": "GARD:0003181", + "name": "Larsen-like syndrome", + "synonyms": [ + "Larsen-like multiple joint dislocation syndrome", + "Larsen-like syndrome, lethal type" + ] + }, + { + "gard_id": "GARD:0003188", + "name": "Laryngeal cleft", + "synonyms": [ + "Posterior laryngeal cleft (PLC)", + "Anterior submucous laryngeal cleft (subtype)", + "Laryngotracheal cleft", + "Laryngotracheoesophageal cleft", + "Laryngo-tracheo-esophageal cleft", + "Laryngo-tracheo-esophageal diastema", + "LC", + "LTEC" + ] + }, + { + "gard_id": "GARD:0003191", + "name": "Laryngocele", + "synonyms": null + }, + { + "gard_id": "GARD:0003192", + "name": "Larynx, congenital partial atresia of", + "synonyms": [ + "Congenital partial atresia of the larynx" + ] + }, + { + "gard_id": "GARD:0003194", + "name": "Larynx atresia", + "synonyms": null + }, + { + "gard_id": "GARD:0003195", + "name": "Graham-Little-Piccardi-Lassueur syndrome", + "synonyms": [ + "Graham Little syndrome", + "Piccardi-Lassueur-Little syndrome", + "Graham Little-Piccardi-Lassueur syndrome" + ] + }, + { + "gard_id": "GARD:0003196", + "name": "Retinal cone dystrophy 1", + "synonyms": [ + "RCD1", + "Cone dystrophy autosomal dominant" + ] + }, + { + "gard_id": "GARD:0003198", + "name": "Laterality defects dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0003203", + "name": "Early-onset parkinsonism-intellectual disability syndrome", + "synonyms": [ + "X-linked recessive basal ganglia disorder with mental retardation", + "Laxova Brown Hogan syndrome", + "Waisman syndrome", + "WSN", + "Basal ganglia disorder with mental retardation", + "BGMR", + "Laxova-Opitz syndrome" + ] + }, + { + "gard_id": "GARD:0003212", + "name": "Branchiooculofacial syndrome", + "synonyms": [ + "BOFS syndrome", + "Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging", + "Hemangiomatous branchial clefts-lip pseudocleft syndrome", + "Lip pseudocleft-hemangiomatous branchial cyst syndrome" + ] + }, + { + "gard_id": "GARD:0003214", + "name": "Leg absence deformity cataract", + "synonyms": null + }, + { + "gard_id": "GARD:0003219", + "name": "Leiomyomatosis of esophagus, cataract and hematuria", + "synonyms": null + }, + { + "gard_id": "GARD:0003223", + "name": "Lenz Majewski hyperostotic dwarfism", + "synonyms": [ + "Lenz-Majewski syndrome", + "Lenz-Majewski hyperostotic dysplasia", + "Multiple congenital anomalies, mental retardation and progressive skeletal sclerosis", + "Hyperostotic dwarfism Lenz-Majewski type" + ] + }, + { + "gard_id": "GARD:0003224", + "name": "Leri Weill dyschondrosteosis", + "synonyms": [ + "LWD", + "Dyschondrosteosis", + "DCO", + "Léri-Weill dyschondrosteosis" + ] + }, + { + "gard_id": "GARD:0003225", + "name": "Lethal chondrodysplasia Moerman type", + "synonyms": null + }, + { + "gard_id": "GARD:0003226", + "name": "Lethal chondrodysplasia Seller type", + "synonyms": null + }, + { + "gard_id": "GARD:0003227", + "name": "Lethal congenital contracture syndrome 1", + "synonyms": [ + "Multiple contracture syndrome, Finnish type", + "Lethal autosomal recessive syndrome of multiple congenital contractures" + ] + }, + { + "gard_id": "GARD:0003228", + "name": "Maple syrup urine disease", + "synonyms": [ + "Branched chain ketoaciduria", + "Branched-chain alpha-keto acid dehydrogenase deficiency", + "BCKD deficiency", + "Keto acid decarboxylase deficiency", + "MSUD", + "BCKDH deficiency", + "Branched-chain 2-ketoacid dehydrogenase deficiency", + "Branched-chain ketoaciduria" + ] + }, + { + "gard_id": "GARD:0003230", + "name": "Metachromatic leukodystrophy", + "synonyms": [ + "Leukodystrophy metachromatic", + "Metachromatic leukoencephalopathy", + "MLD", + "Sulfatide lipidosis", + "Arylsulfatase A deficiency", + "Cerebral sclerosis diffuse metachromatic form", + "Cerebroside sulfatase deficiency", + "ARSA deficiency" + ] + }, + { + "gard_id": "GARD:0003232", + "name": "Leukoencephalopathy palmoplantar keratoderma", + "synonyms": null + }, + { + "gard_id": "GARD:0003236", + "name": "Levic Stefanovic Nikolic syndrome", + "synonyms": [ + "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome", + "Levic-Stefanovic-Nikolic syndrome" + ] + }, + { + "gard_id": "GARD:0003242", + "name": "Popliteal pterygium syndrome", + "synonyms": [ + "PPS", + "Cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies", + "Faciogenitopopliteal syndrome" + ] + }, + { + "gard_id": "GARD:0003244", + "name": "Leydig cell hypoplasia", + "synonyms": [ + "Leydig cell agenesis", + "46,XY disorder of sex development due to LH defects", + "LH resistance due to LH receptor deactivation", + "Male hypergonadotropic hypogonadism due to LHCGR defect", + "46,XY disorder of sex development due to LH resistance or LHB deficiency", + "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", + "46,XY DSD due to LH resistance or LHB deficiency", + "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", + "Male pseudohermaphroditism due to LH resistance or LHB deficiency", + "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" + ] + }, + { + "gard_id": "GARD:0003247", + "name": "Lichen planopilaris", + "synonyms": [ + "Follicular lichen planus", + "Frontal fibrosing alopecia (subtype)", + "Kossard disease", + "Lichen planopilaris classic type", + "LPP", + "Lichen planus follicularis", + "Lichen follicularis" + ] + }, + { + "gard_id": "GARD:0003248", + "name": "Lichtenstein syndrome", + "synonyms": [ + "Neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" + ] + }, + { + "gard_id": "GARD:0003249", + "name": "Iida Kannari syndrome", + "synonyms": [ + "Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features" + ] + }, + { + "gard_id": "GARD:0003251", + "name": "Limb-body wall complex", + "synonyms": [ + "Short umbilical cord syndrome", + "Umbilical cord, short", + "Body stalk anomaly", + "Aplasia of the cord", + "Cyllosomas", + "Limb body wall complex" + ] + }, + { + "gard_id": "GARD:0003252", + "name": "Limb deficiencies distal with micrognathia", + "synonyms": [ + "Buttiens Fryns syndrome" + ] + }, + { + "gard_id": "GARD:0003259", + "name": "Linear hamartoma syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003262", + "name": "Lipidosis with triglycerid storage disease", + "synonyms": null + }, + { + "gard_id": "GARD:0003263", + "name": "Dihydrolipoamide dehydrogenase deficiency", + "synonyms": [ + "Pyruvate dehydrogenase E3 deficiency", + "DLD deficiency", + "E3-deficient maple syrup urine disease", + "E3 deficiency", + "Maple syrup urine disease, type III" + ] + }, + { + "gard_id": "GARD:0003268", + "name": "Lipoid proteinosis of Urbach and Wiethe", + "synonyms": [ + "Lipoproteinosis", + "Hyalinosis cutis et mucosae", + "Urbach Wiethe disease" + ] + }, + { + "gard_id": "GARD:0003277", + "name": "Lissencephaly 2", + "synonyms": [ + "LIS2", + "Norman Roberts lissencephaly syndrome", + "Lissencephaly syndrome Norman-Roberts type" + ] + }, + { + "gard_id": "GARD:0003283", + "name": "Loiasis", + "synonyms": [ + "Loa loa filariasis", + "African eye worm" + ] + }, + { + "gard_id": "GARD:0003284", + "name": "Long QT syndrome 1", + "synonyms": [ + "LQT1", + "Romano-Ward syndrome", + "Ward-Romano syndrome", + "Ventricular fibrillation with prolonged QT interval" + ] + }, + { + "gard_id": "GARD:0003285", + "name": "Long QT syndrome 2", + "synonyms": [ + "LQT2" + ] + }, + { + "gard_id": "GARD:0003286", + "name": "Long QT syndrome 3", + "synonyms": [ + "LQT3" + ] + }, + { + "gard_id": "GARD:0003287", + "name": "Loose anagen hair syndrome", + "synonyms": [ + "Loose anagen syndrome" + ] + }, + { + "gard_id": "GARD:0003293", + "name": "Dwarfism, low-birth-weight type with unresponsiveness to growth hormone", + "synonyms": null + }, + { + "gard_id": "GARD:0003295", + "name": "Lowe oculocerebrorenal syndrome", + "synonyms": [ + "OCRL", + "OCRL1", + "Lowe syndrome", + "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency", + "Oculocerebrorenal syndrome" + ] + }, + { + "gard_id": "GARD:0003299", + "name": "Lower mesodermal defects sequence", + "synonyms": [ + "Lower mesodermal defects" + ] + }, + { + "gard_id": "GARD:0003300", + "name": "Lowry Maclean syndrome", + "synonyms": [ + "Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" + ] + }, + { + "gard_id": "GARD:0003303", + "name": "Lubani Al Saleh Teebi syndrome", + "synonyms": [ + "Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies", + "Cystic fibrosis gastritis megaloblastic anemia" + ] + }, + { + "gard_id": "GARD:0003304", + "name": "Lucey-Driscoll syndrome", + "synonyms": [ + "Transient familial neonatal hyperbilirubinemia", + "Transient familial hyperbilirubinemia" + ] + }, + { + "gard_id": "GARD:0003307", + "name": "Lujan syndrome", + "synonyms": [ + "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies" + ] + }, + { + "gard_id": "GARD:0003314", + "name": "Cerebellar ataxia and hypogonadotropic hypogonadism", + "synonyms": [ + "Cerebellar ataxia - hypogonadism", + "Luteinizing hormone-releasing hormone deficiency with ataxia", + "Luteinizing hormone releasing hormone, deficiency of with ataxia", + "LHRH deficiency and ataxia", + "Gordon-Holmes syndrome", + "Cerebellar ataxia-hypogonadism syndrome" + ] + }, + { + "gard_id": "GARD:0003318", + "name": "Hennekam syndrome", + "synonyms": [ + "Lymphangiectasies and lymphedema Hennekam type", + "Hennekam lymphangiectasia lymphedema syndrome", + "Intestinal lymphagiectasia lymphedema intellectual deficit syndrome" + ] + }, + { + "gard_id": "GARD:0003319", + "name": "Lymphangioleiomyomatosis", + "synonyms": [ + "LAM", + "Lymphangio-myomatosis" + ] + }, + { + "gard_id": "GARD:0003321", + "name": "Lymphatic filariasis", + "synonyms": [ + "Filariasis", + "Elephantiasis", + "Wuchereria Bancrofti infection", + "Filarial elephantiasis", + "Malayi tropical eosinphilia", + "Wuchereriasis", + "Bancroftian filariasis", + "Elephantitis" + ] + }, + { + "gard_id": "GARD:0003324", + "name": "Hereditary lymphedema type II", + "synonyms": [ + "Meige disease", + "Meige lymphedema", + "Lymphedema, late-onset", + "Lymphedema praecox", + "Lymphedema, hereditary, II", + "Lymphedema hereditary type 2" + ] + }, + { + "gard_id": "GARD:0003328", + "name": "Congenital lymphedema", + "synonyms": null + }, + { + "gard_id": "GARD:0003329", + "name": "Lymphoblastic lymphoma", + "synonyms": [ + "Lymphoma, Lymphoblastic" + ] + }, + { + "gard_id": "GARD:0003335", + "name": "Lysinuric protein intolerance", + "synonyms": [ + "LPI", + "Dibasicamino aciduria II" + ] + }, + { + "gard_id": "GARD:0003342", + "name": "Macroglossia", + "synonyms": [ + "Enlarged tongue", + "Giant tongue", + "Congenital macroglossia" + ] + }, + { + "gard_id": "GARD:0003343", + "name": "Beckwith-Wiedemann syndrome", + "synonyms": [ + "Wiedemann-Beckwith Syndrome (WBS)", + "Exomphalos macroglossia gigantism syndrome", + "EMG Syndrome" + ] + }, + { + "gard_id": "GARD:0003347", + "name": "Macules hereditary congenital hypopigmented and hyperpigmented", + "synonyms": [ + "Hereditary congenital hypopigmented and hyperpigmented macules", + "Westerhof Beemer Cormane syndrome", + "Congenital hypomelanotic and hypermelanotic macules" + ] + }, + { + "gard_id": "GARD:0003348", + "name": "Madokoro Ohdo Sonoda syndrome", + "synonyms": [ + "Tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality" + ] + }, + { + "gard_id": "GARD:0003350", + "name": "Renal hypomagnesemia 2", + "synonyms": [ + "Magnesium loss, isolated renal", + "Magnesium wasting, renal", + "HOMG2", + "Isolated autosomal dominant hypomagnesemia", + "Isolated renal magnesium wasting", + "Renal hypomagnesemia type 2", + "Autosomal dominant primary hypomagnesemia with hypocalciuria" + ] + }, + { + "gard_id": "GARD:0003356", + "name": "Male pseudohermaphroditism due to defective LH molecule", + "synonyms": null + }, + { + "gard_id": "GARD:0003360", + "name": "Malignant germ cell tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0003361", + "name": "Malignant hyperthermia arthrogryposis torticollis", + "synonyms": [ + "Froster-Iskenius-Waterson syndrome", + "Malignant hyperthermia - arthrogryposis - torticollis" + ] + }, + { + "gard_id": "GARD:0003369", + "name": "Malignant mesenchymoma", + "synonyms": [ + "Malignant mesenchymal tumor" + ] + }, + { + "gard_id": "GARD:0003371", + "name": "Malonyl-CoA decarboxylase deficiency", + "synonyms": [ + "Malonic aciduria", + "Malonicaciduria", + "Malonic acidemia", + "MCD deficiency" + ] + }, + { + "gard_id": "GARD:0003373", + "name": "Dilated cardiomyopathy with hypergonadotropic hypogonadism", + "synonyms": [ + "Cardiogenital syndrome", + "Najjar syndrome", + "Malouf syndrome", + "Genital anomaly with cardiomyopathy", + "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" + ] + }, + { + "gard_id": "GARD:0003374", + "name": "Mandibuloacral dysplasia with type A lipodystrophy", + "synonyms": [ + "MADA", + "Lipodystrophy, type A, associated with mandibuloacral dysplasia" + ] + }, + { + "gard_id": "GARD:0003378", + "name": "Manouvrier syndrome", + "synonyms": [ + "Lung agenesis heart defect thumb anomalies", + "Pulmonary aplasia and triphalangia of the thumb" + ] + }, + { + "gard_id": "GARD:0003382", + "name": "Van den Ende Gupta syndrome", + "synonyms": [ + "Marden Walker like syndrome without psychomotor retardation", + "VDEGS", + "Blepharophimosis, arachnodactyly, and congenital contractures", + "Marden-Walker-like syndrome" + ] + }, + { + "gard_id": "GARD:0003387", + "name": "Marfanoid hypermobility syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003388", + "name": "Marfanoid habitus-autosomal recessive intellectual disability syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003389", + "name": "Marginal glioneuronal heterotopia", + "synonyms": null + }, + { + "gard_id": "GARD:0003390", + "name": "Marie Unna congenital hypotrichosis", + "synonyms": [ + "MUHH", + "Hypotrichosis, Marie Unna type", + "Marie Unna hereditary hypotrichosis" + ] + }, + { + "gard_id": "GARD:0003393", + "name": "Markel Vikkula Mulliken syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003395", + "name": "Manitoba oculotrichoanal syndrome", + "synonyms": [ + "Oculotrichoanal syndrome", + "Marles syndrome", + "Marles-Greenberg-Persaud syndrome", + "Manitoba Trichoanal syndrome", + "MOTA syndrome", + "Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" + ] + }, + { + "gard_id": "GARD:0003396", + "name": "Gracile bone dysplasia", + "synonyms": [ + "Skeletal dysplasia lethal with gracile bones", + "Osteocraniostenosis", + "Osteocraniosplenic syndrome", + "Habrodysplasia" + ] + }, + { + "gard_id": "GARD:0003399", + "name": "Maroteaux Stanescu Cousin syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003401", + "name": "Marphanoid syndrome type De Silva", + "synonyms": null + }, + { + "gard_id": "GARD:0003406", + "name": "Martsolf syndrome", + "synonyms": [ + "Cataract-intellectual disability-hypogonadism syndrome" + ] + }, + { + "gard_id": "GARD:0003407", + "name": "Massa Casaer Ceulemans syndrome", + "synonyms": [ + "Arthrogryposis multiplex congenita associated with lissencephaly" + ] + }, + { + "gard_id": "GARD:0003409", + "name": "Mastocytosis cutaneous with short stature conductive hearing loss and microtia", + "synonyms": [ + "Hennekam Beemer syndrome", + "Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation" + ] + }, + { + "gard_id": "GARD:0003413", + "name": "Maternal hyperphenylalaninemia", + "synonyms": [ + "Maternal phenylketonuria", + "MPKU", + "Hyperphenylalaninemic embryopathy", + "Maternal PKU", + "Phenylketonuric embryopathy" + ] + }, + { + "gard_id": "GARD:0003418", + "name": "Maturity-onset diabetes of the young, type 1", + "synonyms": [ + "MODY1", + "MODY type 1", + "Diabetes mellitus MODY type 1", + "Type 1 maturity-onset diabetes of the young", + "MODY HNF4A related" + ] + }, + { + "gard_id": "GARD:0003424", + "name": "McDonough syndrome", + "synonyms": [ + "Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" + ] + }, + { + "gard_id": "GARD:0003425", + "name": "McDowall syndrome", + "synonyms": [ + "Primary non-essential cutis verticis gyrata" + ] + }, + { + "gard_id": "GARD:0003426", + "name": "McGillivray syndrome", + "synonyms": [ + "Familial scaphocephaly syndrome, McGillivray type" + ] + }, + { + "gard_id": "GARD:0003427", + "name": "McKusick Kaufman syndrome", + "synonyms": [ + "Kaufman McKusick syndrome", + "MKKS", + "Hydrometrocolpos syndrome", + "Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation", + "HMCS" + ] + }, + { + "gard_id": "GARD:0003430", + "name": "McPherson Clemens syndrome", + "synonyms": [ + "Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" + ] + }, + { + "gard_id": "GARD:0003431", + "name": "McPherson Robertson Cammarano syndrome", + "synonyms": [ + "Dominantly inherited ptosis, strabismus and ectopic pupils" + ] + }, + { + "gard_id": "GARD:0003432", + "name": "Meacham Winn Culler syndrome", + "synonyms": [ + "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" + ] + }, + { + "gard_id": "GARD:0003434", + "name": "Measles", + "synonyms": [ + "Rubeola" + ] + }, + { + "gard_id": "GARD:0003436", + "name": "Meckel syndrome", + "synonyms": [ + "Meckel Gruber syndrome", + "Gruber syndrome", + "Dysencephalia splachnocystica", + "MKS" + ] + }, + { + "gard_id": "GARD:0003438", + "name": "Medeira-Dennis-Donnai syndrome", + "synonyms": [ + "Dysraphism, cleft lip/palate, limb reduction defects" + ] + }, + { + "gard_id": "GARD:0003439", + "name": "Median cleft of upper lip with polyps of facial skin and nasal mucosa", + "synonyms": [ + "Pai syndrome", + "Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome", + "Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome" + ] + }, + { + "gard_id": "GARD:0003440", + "name": "Median nodule of the upper lip", + "synonyms": null + }, + { + "gard_id": "GARD:0003441", + "name": "Medrano Roldan syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003442", + "name": "Megacystis microcolon intestinal hypoperistalsis syndrome", + "synonyms": [ + "MMIH syndrome", + "Berdon syndrome", + "MMIHS", + "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" + ] + }, + { + "gard_id": "GARD:0003443", + "name": "Megaduodenum and/or megacystis", + "synonyms": [ + "Pseudoobstruction idiopathic intestinal", + "Visceral myopathy familial" + ] + }, + { + "gard_id": "GARD:0003444", + "name": "Megaepiphyseal dwarfism", + "synonyms": null + }, + { + "gard_id": "GARD:0003445", + "name": "Megalencephalic leukoencephalopathy with subcortical cysts", + "synonyms": [ + "MLC", + "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts", + "LVM", + "Megalencephaly-cystic leukodystrophy", + "Leukoencephalopathy with swelling and cysts" + ] + }, + { + "gard_id": "GARD:0003448", + "name": "Megalocornea-intellectual disability syndrome", + "synonyms": [ + "MMR syndrome", + "Neuhauser syndrome", + "Megalocornea mental retardation syndrome" + ] + }, + { + "gard_id": "GARD:0003449", + "name": "Mehes syndrome", + "synonyms": [ + "Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" + ] + }, + { + "gard_id": "GARD:0003450", + "name": "Mehta Lewis Patton syndrome", + "synonyms": [ + "Congenital heart disease, ptosis, hypodontia, and craniosynostosis" + ] + }, + { + "gard_id": "GARD:0003451", + "name": "Meier Blumberg Imahorn syndrome", + "synonyms": [ + "Idiopathic hypercalciuria with bilateral macular colobomata" + ] + }, + { + "gard_id": "GARD:0003454", + "name": "Meigel disease", + "synonyms": null + }, + { + "gard_id": "GARD:0003460", + "name": "Hereditary melanoma", + "synonyms": [ + "Hereditary Cutaneous Melanoma", + "Familial Cutaneous Melanoma", + "Hereditary Cutaneous (Skin) Melanoma", + "Familial Melanoma" + ] + }, + { + "gard_id": "GARD:0003462", + "name": "Melhem Fahl syndrome", + "synonyms": [ + "Fifteen dorsal vertebrae and rib pairs" + ] + }, + { + "gard_id": "GARD:0003471", + "name": "Meningocele", + "synonyms": null + }, + { + "gard_id": "GARD:0003472", + "name": "Meningococcemia", + "synonyms": null + }, + { + "gard_id": "GARD:0003473", + "name": "Meningoencephalocele", + "synonyms": [ + "Encephalomeningocele" + ] + }, + { + "gard_id": "GARD:0003475", + "name": "Myelomeningocele", + "synonyms": [ + "Meningomyelocele" + ] + }, + { + "gard_id": "GARD:0003480", + "name": "Cerebrooculonasal syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003482", + "name": "Intellectual disability - athetosis - microphthalmia", + "synonyms": [ + "Bd syndrome", + "Intellectual disability-athetosis-microphthalmia syndrome", + "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" + ] + }, + { + "gard_id": "GARD:0003485", + "name": "Intellectual deficit Buenos-Aires type", + "synonyms": [ + "Mutchinick syndrome", + "Mental retardation Buenos Aires type" + ] + }, + { + "gard_id": "GARD:0003491", + "name": "Hernández-Aguirre Negrete syndrome", + "synonyms": [ + "Intellectual disability-epilepsy-bulbous nose syndrome" + ] + }, + { + "gard_id": "GARD:0003505", + "name": "Severe intellectual disability-progressive spastic diplegia syndrome", + "synonyms": [ + "Intellectual disability, autosomal dominant 19", + "CTNNB1-related intellectual disability", + "CTNNB1 syndrome" + ] + }, + { + "gard_id": "GARD:0003506", + "name": "PPM-X syndrome", + "synonyms": [ + "Intellectual deficit, X-linked - psychosis - macroorchidism", + "Mental retardation psychosis macroorchidism", + "Mental retardation, X-linked, syndromic 13", + "MRXS13", + "Mental retardation with psychosis, pyramidal signs, and macroorchidism" + ] + }, + { + "gard_id": "GARD:0003514", + "name": "Intellectual deficit - short stature - hypertelorism", + "synonyms": [ + "Stoll-Géraudel-Chauvin syndrome", + "Mental retardation short stature hypertelorism" + ] + }, + { + "gard_id": "GARD:0003519", + "name": "Metaphyseal acroscyphodysplasia", + "synonyms": [ + "Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly", + "Wedge-shaped epiphyses of knees", + "Bellini syndrome", + "Bellini Chiumello Rimoldi syndrome", + "Wedge-shaped epiphyses of the knees with mental retardation and short stature" + ] + }, + { + "gard_id": "GARD:0003520", + "name": "Mental retardation skeletal dysplasia abducens palsy", + "synonyms": [ + "Christian syndrome" + ] + }, + { + "gard_id": "GARD:0003521", + "name": "Smith-Fineman-Myers syndrome", + "synonyms": [ + "SFMS" + ] + }, + { + "gard_id": "GARD:0003523", + "name": "Intellectual disability-spasticity-ectrodactyly syndrome", + "synonyms": [ + "Jancar syndrome" + ] + }, + { + "gard_id": "GARD:0003524", + "name": "Mietens-Weber syndrome", + "synonyms": [ + "Mental retardation syndrome, Mietens Weber type", + "Corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation", + "Intellectual disability, Mietens-Weber type", + "Mietens syndrome" + ] + }, + { + "gard_id": "GARD:0003531", + "name": "Monoamine oxidase A deficiency", + "synonyms": [ + "Brunner syndrome" + ] + }, + { + "gard_id": "GARD:0003537", + "name": "Atkin syndrome", + "synonyms": [ + "Atkin-Flaitz syndrome" + ] + }, + { + "gard_id": "GARD:0003542", + "name": "X-linked non-specific intellectual disability", + "synonyms": [ + "X-linked non-syndromic intellectual disability" + ] + }, + { + "gard_id": "GARD:0003547", + "name": "Diffuse mesangial sclerosis", + "synonyms": [ + "Familial mesangial sclerosis", + "Mesangial sclerosis, diffuse", + "Diffuse isolated mesangial sclerosis", + "Isolated diffuse mesangial sclerosis", + "Nephrotic syndrome, early onset with diffuse mesangial sclerosis", + "DMS" + ] + }, + { + "gard_id": "GARD:0003549", + "name": "Mesomelia", + "synonyms": null + }, + { + "gard_id": "GARD:0003552", + "name": "Mesomelic dwarfism cleft palate camptodactyly", + "synonyms": [ + "Reardon-Hall-Slaney syndrome", + "Mesomelic limb shortening and bowing" + ] + }, + { + "gard_id": "GARD:0003553", + "name": "Langer mesomelic dysplasia", + "synonyms": [ + "Dyschondrosteosis, homozygous", + "Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" + ] + }, + { + "gard_id": "GARD:0003554", + "name": "Nievergelt syndrome", + "synonyms": [ + "Mesomelic dwarfism Nievergelt type", + "Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" + ] + }, + { + "gard_id": "GARD:0003555", + "name": "Ulna and fibula, hypoplasia of", + "synonyms": [ + "Hypoplasia of ulna and fibula", + "Mesomelic dwarfism of hypoplastic ulna and fibula type", + "Mesomelic dysplasia Reinhardt-Pfeiffer type" + ] + }, + { + "gard_id": "GARD:0003556", + "name": "Mesomelic dysplasia skin dimples", + "synonyms": null + }, + { + "gard_id": "GARD:0003557", + "name": "Thai symphalangism syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003559", + "name": "Metacarpals 4 and 5 fusion", + "synonyms": null + }, + { + "gard_id": "GARD:0003560", + "name": "Metachondromatosis", + "synonyms": [ + "METCDS" + ] + }, + { + "gard_id": "GARD:0003562", + "name": "Metaphyseal anadysplasia", + "synonyms": [ + "MAD", + "Early-onset regressive form of metaphyseal dysplasia", + "Maroteaux Verloes Stanescu syndrome", + "Regressive metaphyseal dysplasia" + ] + }, + { + "gard_id": "GARD:0003563", + "name": "Metaphyseal chondrodysplasia Spahr type", + "synonyms": [ + "Spahr type Metaphyseal chondrodysplasia", + "MCDS" + ] + }, + { + "gard_id": "GARD:0003565", + "name": "Metaphyseal chondrodysplasia, others", + "synonyms": null + }, + { + "gard_id": "GARD:0003566", + "name": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome", + "synonyms": [ + "Metaphyseal dysostosis, conductive hearing loss and mental retardation (formerly)" + ] + }, + { + "gard_id": "GARD:0003568", + "name": "Metaphyseal dysplasia maxillary hypoplasia brachydactyly", + "synonyms": null + }, + { + "gard_id": "GARD:0003571", + "name": "Metatropic dysplasia", + "synonyms": [ + "Metatropic dwarfism", + "Metatropic dysplasia, nonlethal dominant" + ] + }, + { + "gard_id": "GARD:0003573", + "name": "Methimazole antenatal exposure", + "synonyms": [ + "Methimazole embryofetopathy", + "Methimazole/carbimazole embryofetopathy", + "Methimazole/carbimazole embryopathy", + "Fetal methimazole syndrome" + ] + }, + { + "gard_id": "GARD:0003575", + "name": "Fetal methylmercury syndrome", + "synonyms": [ + "Methyl mercury antenatal exposure", + "Minamata disease" + ] + }, + { + "gard_id": "GARD:0003577", + "name": "Methylcobalamin deficiency cbl G type", + "synonyms": [ + "Homocystinuria-megaloblastic anemia, cblG complementation type", + "cblG", + "Methionine synthase deficiency" + ] + }, + { + "gard_id": "GARD:0003579", + "name": "Methylmalonic acidemia with homocystinuria", + "synonyms": [ + "Methylmalonic acidemia and homocystinemia" + ] + }, + { + "gard_id": "GARD:0003582", + "name": "Methylmalonic acidemia with homocystinuria type cblD", + "synonyms": [ + "HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED", + "METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED", + "METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY", + "METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY", + "CblD defect", + "Cobalamin D defect", + "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD", + "Methylmalonic aciduria with homocystinuria, type cblD", + "METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE", + "Mehtylmalonic acidemia with homocystinuria cbI d", + "Methylmalonic acidemia with homocystinuria, type cblD" + ] + }, + { + "gard_id": "GARD:0003584", + "name": "Methylmalonic acidemia with homocystinuria type cblF", + "synonyms": [ + "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF", + "Methylmalonic aciduria with homocystinuria, type cblF" + ] + }, + { + "gard_id": "GARD:0003586", + "name": "Methylmalonyl-Coenzyme A mutase deficiency", + "synonyms": [ + "MCM Deficiency", + "Vitamin B12-unresponsive methylmalonic acidemia", + "Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency", + "Methylmalonic aciduria, mut TYPE" + ] + }, + { + "gard_id": "GARD:0003588", + "name": "Mevalonic aciduria", + "synonyms": [ + "Complete mevalonate kinase deficiency", + "Mevalonicaciduria", + "MVA" + ] + }, + { + "gard_id": "GARD:0003589", + "name": "Circumferential skin creases Kunze type", + "synonyms": [ + "(CSC-KT)", + "Michelin tire baby syndrome" + ] + }, + { + "gard_id": "GARD:0003596", + "name": "Microbrachycephaly ptosis cleft lip", + "synonyms": null + }, + { + "gard_id": "GARD:0003602", + "name": "Microcephalic primordial dwarfism Toriello type", + "synonyms": [ + "Microcephalic primordial dwarfism and cataracts" + ] + }, + { + "gard_id": "GARD:0003603", + "name": "Microcephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0003604", + "name": "Microcephaly-albinism-digital anomalies syndrome", + "synonyms": [ + "Albinism-Microcephaly digital anomalies syndrome", + "Castro Gago-Pombo-Novo syndrome" + ] + }, + { + "gard_id": "GARD:0003605", + "name": "Microcephaly autosomal dominant", + "synonyms": [ + "Microcephaly with autosomal dominant inheritance", + "Autosomal dominant microcephaly", + "Autosomal dominant primary microcephaly" + ] + }, + { + "gard_id": "GARD:0003607", + "name": "Microcephaly brain defect spasticity hypernatremia", + "synonyms": [ + "Franek-Bocker-Kahlen syndrome", + "Microcephaly - brain defect - spasticity - hypernatremia" + ] + }, + { + "gard_id": "GARD:0003609", + "name": "Microcephaly-cardiomyopathy", + "synonyms": [ + "Severe microcephaly with mental retardation and dilated cardiomyopathy", + "Microcephaly-cardiomyopathy syndrome", + "Winship-Viljoen-Leary syndrome", + "Microcephaly with cardiomyopathy", + "Severe microcephaly and self-limiting dilated cardiomyopathy" + ] + }, + { + "gard_id": "GARD:0003610", + "name": "Microcephaly cervical spine fusion anomalies", + "synonyms": [ + "Microcephaly, mild mental retardation, short stature, and skeletal anomalies" + ] + }, + { + "gard_id": "GARD:0003611", + "name": "Microcephaly chorioretinopathy recessive form", + "synonyms": null + }, + { + "gard_id": "GARD:0003614", + "name": "Microcephaly, corpus callosum dysgenesis and cleft lip-palate", + "synonyms": [ + "Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation", + "Microcephaly, facial clefting, and preaxial polydactyly" + ] + }, + { + "gard_id": "GARD:0003615", + "name": "Microcephaly glomerulonephritis Marfanoid habitus", + "synonyms": null + }, + { + "gard_id": "GARD:0003622", + "name": "Lymphedema, microcephaly and chorioretinopathy syndrome", + "synonyms": [ + "Microcephaly lymphedema chorioretinal dysplasia", + "Chorioretinal dysplasia-microcephaly-mental retardation syndrome" + ] + }, + { + "gard_id": "GARD:0003627", + "name": "Microcephaly microcornea syndrome Seemanova type", + "synonyms": [ + "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation", + "Seemanova Lesny syndrome", + "Microcephaly-microcornea syndrome, Seemanova type" + ] + }, + { + "gard_id": "GARD:0003628", + "name": "Microcephaly micropenis convulsions", + "synonyms": [ + "Microcephaly seizures genital hypoplasia", + "Microcephaly micropenis seizures" + ] + }, + { + "gard_id": "GARD:0003629", + "name": "Microcephaly microphthalmos blindness", + "synonyms": null + }, + { + "gard_id": "GARD:0003630", + "name": "Microcephaly nonsyndromal", + "synonyms": [ + "Nonsyndromal microcephaly", + "Nonsyndromic microcephaly" + ] + }, + { + "gard_id": "GARD:0003635", + "name": "Congenital microcoria", + "synonyms": [ + "Microcoria, congenital", + "MCOR", + "Congenital miosis", + "Miosis, congenital", + "Pinhole pupils" + ] + }, + { + "gard_id": "GARD:0003636", + "name": "Microcornea corectopia macular hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0003637", + "name": "Microcornea, glaucoma, and absent frontal sinuses", + "synonyms": [ + "Hereditary microcornea, glaucoma, and absent frontal sinuses" + ] + }, + { + "gard_id": "GARD:0003638", + "name": "Microdontia hypodontia short stature", + "synonyms": [ + "Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality" + ] + }, + { + "gard_id": "GARD:0003640", + "name": "Microgastria limb reduction defect", + "synonyms": [ + "Microgastria-limb reduction defects association", + "MLRD", + "Congenital microgastria and limb reduction defects" + ] + }, + { + "gard_id": "GARD:0003642", + "name": "Spondyloepimetaphyseal dysplasia micromelic", + "synonyms": [ + "Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects" + ] + }, + { + "gard_id": "GARD:0003643", + "name": "Omodysplasia 2", + "synonyms": [ + "OMOD2", + "Omodysplasia, autosomal dominant" + ] + }, + { + "gard_id": "GARD:0003644", + "name": "Microphthalmia associated with colobomatous cyst", + "synonyms": [ + "Microphthalmos bilateral, colobomatous orbital cyst" + ] + }, + { + "gard_id": "GARD:0003645", + "name": "Microphthalmia syndromic 6", + "synonyms": [ + "MCOPS6", + "Microphthalmia and pituitary anomalies", + "Microphthalmia with brain and digit developmental anomalies", + "Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia", + "Syndromic microphthalmia type 6", + "Orofacial cleft 11" + ] + }, + { + "gard_id": "GARD:0003650", + "name": "Microphthalmia microtia fetal akinesia", + "synonyms": [ + "Microphthalmia-microtia-fetal akinesia", + "Thomas Jewett Raines syndrome", + "Thomas-Jewett-Raines syndrome", + "Fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" + ] + }, + { + "gard_id": "GARD:0003652", + "name": "Microscopic polyangiitis", + "synonyms": null + }, + { + "gard_id": "GARD:0003653", + "name": "Microsomia hemifacial radial defects", + "synonyms": [ + "Hemifacial microsomia with radial defects", + "Goldenhar syndrome with ipsilateral radial defect", + "Oculoauriculovertebral spectrum with radial defect", + "OAVS with radial defect", + "Moeschler Clarren syndrome" + ] + }, + { + "gard_id": "GARD:0003655", + "name": "Microsporidiosis", + "synonyms": [ + "Microsporidiasis" + ] + }, + { + "gard_id": "GARD:0003657", + "name": "Microtia, meatal atresia and conductive deafness", + "synonyms": [ + "Familial microtia and meatal atresia", + "Familial microtia with meatal atresia and conductive deafness" + ] + }, + { + "gard_id": "GARD:0003659", + "name": "Microphthalmia with linear skin defects syndrome", + "synonyms": [ + "MCOPS7", + "MLS syndrome", + "Microphthalmia with linear skin defects", + "Microphthalmia Dermal Aplasia and Sclerocornea syndrome", + "MIDAS syndrome", + "Syndromic microphthalmia type 7", + "Micropthalmia syndromic 7", + "Linear skin defects with multiple congenital anomalies 1", + "Microphthalmia-dermal aplasia-sclerocornea syndrome" + ] + }, + { + "gard_id": "GARD:0003660", + "name": "Midline cleft of lower lip", + "synonyms": null + }, + { + "gard_id": "GARD:0003668", + "name": "Miller-Fisher syndrome", + "synonyms": [ + "Cranial variant of Guillain-Barré syndrome", + "Cranial variant of GBS" + ] + }, + { + "gard_id": "GARD:0003669", + "name": "Miller-Dieker syndrome", + "synonyms": [ + "Miller-Dieker lissencephaly syndrome", + "MDLS" + ] + }, + { + "gard_id": "GARD:0003670", + "name": "Milner Khallouf Gibson syndrome", + "synonyms": [ + "Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia" + ] + }, + { + "gard_id": "GARD:0003671", + "name": "Mitochondrial DNA-associated Leigh syndrome", + "synonyms": [ + "MILS", + "Leigh disease, maternally inherited", + "Subacute necrotizing encephalomyelopathy maternally inherited", + "Maternally inherited Leigh syndrome" + ] + }, + { + "gard_id": "GARD:0003672", + "name": "Nonspherocytic hemolytic anemia due to hexokinase deficiency", + "synonyms": [ + "Hexokinase deficiency hemolytic anemia" + ] + }, + { + "gard_id": "GARD:0003676", + "name": "Mirror polydactyly segmentation and limbs defects", + "synonyms": null + }, + { + "gard_id": "GARD:0003681", + "name": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", + "synonyms": [ + "Mitochondrial encephalomyopathy aminoacidopathy", + "Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive", + "Booth-Haworth-Dilling syndrome", + "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", + "Mitochondrial DNA depletion syndrome-5", + "SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria" + ] + }, + { + "gard_id": "GARD:0003682", + "name": "Mitochondrial myopathy with lactic acidosis", + "synonyms": [ + "Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness" + ] + }, + { + "gard_id": "GARD:0003684", + "name": "Mitochondrial trifunctional protein deficiency", + "synonyms": [ + "TFP deficiency" + ] + }, + { + "gard_id": "GARD:0003685", + "name": "Mitral atresia", + "synonyms": null + }, + { + "gard_id": "GARD:0003687", + "name": "Mitral valve prolapse, familial, autosomal dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0003688", + "name": "Mitral valve prolapse, familial, X-linked", + "synonyms": [ + "MVP", + "Prolapsed mitral valve", + "Mitral regurgitation, familial", + "Barlow syndrome", + "Myxomatous valvular disease, familial", + "PMV" + ] + }, + { + "gard_id": "GARD:0003690", + "name": "Melorheostosis with osteopoikilosis", + "synonyms": [ + "Mixed sclerosing bone dystrophy", + "MSBD syndrome" + ] + }, + { + "gard_id": "GARD:0003692", + "name": "Microphthalmia syndromic 5", + "synonyms": [ + "MCOPS5", + "Syndromic microphthalmia type 5", + "OTX2-related eye disorders" + ] + }, + { + "gard_id": "GARD:0003693", + "name": "Microphthalmia syndromic 8", + "synonyms": [ + "MCOPS8", + "MMEP", + "MMEP syndrome", + "Microcephaly microphthalmia ectrodactyly of lower limbs and prognathism", + "Syndromic microphthalmia type 8", + "Viljoen Smart syndrome" + ] + }, + { + "gard_id": "GARD:0003697", + "name": "Maturity-onset diabetes of the young", + "synonyms": [ + "MODY", + "Mason type diabetes" + ] + }, + { + "gard_id": "GARD:0003698", + "name": "Moebius axonal neuropathy hypogonadism", + "synonyms": [ + "Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type" + ] + }, + { + "gard_id": "GARD:0003699", + "name": "Fryns syndrome", + "synonyms": [ + "Moerman Van den berghe Fryns syndrome", + "FRNS", + "Diaphragmatic hernia, abnormal face, and distal limb anomalies" + ] + }, + { + "gard_id": "GARD:0003701", + "name": "Orofaciodigital syndrome 2", + "synonyms": [ + "OFD2", + "OFD syndrome 2", + "Oral-facial-digital syndrome type 2", + "Mohr syndrome", + "Orofaciodigital syndrome II", + "Oral facial digital syndrome 2", + "Oral facial digital syndrome type 2", + "OFDS 2" + ] + }, + { + "gard_id": "GARD:0003704", + "name": "Moloney syndrome", + "synonyms": [ + "Choroidal atrophy alopecia", + "Fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails", + "Regional choroidal atrophy and alopecia" + ] + }, + { + "gard_id": "GARD:0003705", + "name": "Molybdenum cofactor deficiency", + "synonyms": [ + "MOCOD", + "Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase" + ] + }, + { + "gard_id": "GARD:0003707", + "name": "Tetramelic monodactyly", + "synonyms": [ + "Sommer Hines syndrome", + "Sommer-Hines syndrome", + "Tetramelic monodactyly with autosomal dominant inheritance" + ] + }, + { + "gard_id": "GARD:0003711", + "name": "Chromosome 10q deletion", + "synonyms": [ + "Deletion 10q", + "Monosomy 10q", + "10q deletion", + "10q monosomy", + "Partial monosomy 10q" + ] + }, + { + "gard_id": "GARD:0003722", + "name": "Chromosome 14q deletion", + "synonyms": [ + "Deletion 14q", + "Monosomy 14q", + "14q deletion", + "14q monosomy", + "Partial monosomy 14q" + ] + }, + { + "gard_id": "GARD:0003726", + "name": "Mosaic monosomy 18", + "synonyms": [ + "Mosaic monosomy chromosome 18", + "Monosomy 18 mosaicism" + ] + }, + { + "gard_id": "GARD:0003730", + "name": "Chromosome 1p deletion", + "synonyms": [ + "Deletion 1p", + "Monosomy 1p", + "1p deletion", + "1p monosomy", + "Partial monosomy 1p" + ] + }, + { + "gard_id": "GARD:0003738", + "name": "Chromosome 1q41-q42 deletion syndrome", + "synonyms": [ + "1q41-q42 deletion syndrome", + "1q41-q42 microdeletion syndrome", + "Deletion 1q41-q42", + "Monosomy 1q41-q42" + ] + }, + { + "gard_id": "GARD:0003739", + "name": "Chromosome 20p deletion", + "synonyms": [ + "Deletion 20p", + "Monosomy 20p", + "20p deletion", + "20p monosomy", + "Partial monosomy 20p" + ] + }, + { + "gard_id": "GARD:0003744", + "name": "Chromosome 2q deletion", + "synonyms": [ + "Deletion 2q", + "Monosomy 2q", + "2q deletion", + "2q monosomy", + "Partial monosomy 2q" + ] + }, + { + "gard_id": "GARD:0003746", + "name": "Chromosome 2q24 microdeletion syndrome", + "synonyms": [ + "2q24 microdeletion syndrome", + "Deletion 2q24", + "Monosomy 2q24", + "2q24 deletion" + ] + }, + { + "gard_id": "GARD:0003750", + "name": "Chromosome 3p- syndrome", + "synonyms": [ + "Del(3p) syndrome", + "Chromosome 3, monosomy 3p25", + "Deletion 3p25", + "Chromosome 3pter-p25 Deletion Syndrome", + "Telomeric monosomy 3p", + "Distal 3p deletion", + "3p- syndrome", + "Distal monosomy 3p", + "Monosomy 3pter" + ] + }, + { + "gard_id": "GARD:0003760", + "name": "Chromosome 6q deletion", + "synonyms": [ + "Deletion 6q", + "Monosomy 6q", + "6q deletion", + "6q monosomy", + "Partial monosomy 6q" + ] + }, + { + "gard_id": "GARD:0003764", + "name": "Chromosome 6q25 microdeletion syndrome", + "synonyms": [ + "6q25 microdeletion syndrome", + "Deletion 6q25", + "Monosomy 6q25" + ] + }, + { + "gard_id": "GARD:0003765", + "name": "Chromosome 7q deletion", + "synonyms": [ + "Deletion 7q", + "Monosomy 7q", + "7q deletion", + "7q monosomy", + "Partial monosomy 7q" + ] + }, + { + "gard_id": "GARD:0003768", + "name": "Chromosome 8p deletion", + "synonyms": [ + "Deletion 8p", + "Monosomy 8p", + "8p deletion", + "8p monosomy", + "Partial monosomy 8p" + ] + }, + { + "gard_id": "GARD:0003769", + "name": "Chromosome 8p23.1 deletion", + "synonyms": [ + "8p23.1 microdeletion syndrome", + "Deletion 8p23.1", + "Monosomy 8p23.1", + "8p23.1 deletion" + ] + }, + { + "gard_id": "GARD:0003770", + "name": "Chromosome 8q deletion", + "synonyms": [ + "Deletion 8q", + "Monosomy 8q", + "8q deletion", + "8q monosomy", + "Partial monosomy 8q" + ] + }, + { + "gard_id": "GARD:0003773", + "name": "Chromosome 9p deletion", + "synonyms": [ + "Deletion 9p", + "Monosomy 9p", + "9p deletion", + "9p monosomy", + "Partial monosomy 9p" + ] + }, + { + "gard_id": "GARD:0003775", + "name": "X-linked susceptibility to autism-4", + "synonyms": [ + "Susceptibility to autism, X-linked" + ] + }, + { + "gard_id": "GARD:0003785", + "name": "Mucopolysaccharidosis type IVA", + "synonyms": [ + "MPS IVA", + "MPS 4A", + "Morquio A disease", + "Galactosamine-6-sulfatase deficiency", + "GALNS deficiency", + "Morquio syndrome A", + "Morquio disease type A", + "MPS4A", + "MPSIVA", + "Mucopolysaccharidosis type 4A", + "N-acetylgalactosamine-6-sulfate sulfatase deficiency" + ] + }, + { + "gard_id": "GARD:0003786", + "name": "Morquio syndrome B", + "synonyms": [ + "Mucopolysaccharidosis type IVB", + "MPS IVB", + "MPS 4B" + ] + }, + { + "gard_id": "GARD:0003787", + "name": "WDHA syndrome", + "synonyms": [ + "Watery diarrhea, hypokalemia, and achlorhydria syndrome", + "Verner-Morrison syndrome", + "Pancreatic cholera", + "Watery Diarrhea Syndrome", + "Vipoma Syndrome" + ] + }, + { + "gard_id": "GARD:0003788", + "name": "Morse-Rawnsley-Sargent syndrome", + "synonyms": [ + "Holoprosencephaly with fetal akinesia/hypokinesia sequence" + ] + }, + { + "gard_id": "GARD:0003793", + "name": "Mounier-Kuhn syndrome", + "synonyms": [ + "Congenital tracheobronchomegaly", + "Mounier Kuhn syndrome" + ] + }, + { + "gard_id": "GARD:0003795", + "name": "Mousa Al din Al Nassar syndrome", + "synonyms": [ + "Spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs", + "Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia", + "Bedouin spastic ataxia syndrome" + ] + }, + { + "gard_id": "GARD:0003800", + "name": "MSBD syndrome", + "synonyms": [ + "Dystrophy osseous sclerosing mixed" + ] + }, + { + "gard_id": "GARD:0003806", + "name": "Mucolipidosis III alpha/beta", + "synonyms": [ + "ML3", + "ML 3 A", + "Pseudo-Hurler polydystrophy", + "Mucolipidosis type 3A" + ] + }, + { + "gard_id": "GARD:0003807", + "name": "Mucopolysaccharidosis type III", + "synonyms": [ + "Mucopoly-saccharidosis type 3", + "Sanfilippo syndrome", + "MPSIII", + "Mucopolysaccharidosis type 3", + "Sanfilippo disease" + ] + }, + { + "gard_id": "GARD:0003812", + "name": "Muller Barth Menger syndrome", + "synonyms": [ + "Cerebral malformation, seizures, hypertrichosis, and overlapping fingers" + ] + }, + { + "gard_id": "GARD:0003824", + "name": "Multiple carboxylase deficiency", + "synonyms": [ + "MCD" + ] + }, + { + "gard_id": "GARD:0003829", + "name": "Multiple endocrine neoplasia type 1", + "synonyms": [ + "Endocrine adenomatosis multiple", + "MEN 1", + "Wermer syndrome", + "MEN1" + ] + }, + { + "gard_id": "GARD:0003830", + "name": "Multiple endocrine neoplasia type 2", + "synonyms": [ + "MEN2" + ] + }, + { + "gard_id": "GARD:0003831", + "name": "Multiple fibrofolliculoma familial", + "synonyms": null + }, + { + "gard_id": "GARD:0003834", + "name": "Multiple pterygium syndrome lethal type", + "synonyms": [ + "Pterygium syndrome multiple lethal type", + "Lethal multiple pterygium syndrome", + "LMPS" + ] + }, + { + "gard_id": "GARD:0003836", + "name": "Multiple synostoses syndrome 1", + "synonyms": [ + "Synostoses multiple with brachydactyly", + "Symphalangism brachydactyly syndrome", + "WL syndrome", + "Deafness-symphalangism syndrome of Herrmann", + "Facioaudiosymphalangism syndrome", + "SYNS1" + ] + }, + { + "gard_id": "GARD:0003842", + "name": "Muscular dystrophy, congenital, infantile with cataract and hypogonadism", + "synonyms": [ + "Familial congenital muscular dystrophy with gonadal dysgenesis", + "Bassoe syndrome", + "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome" + ] + }, + { + "gard_id": "GARD:0003843", + "name": "Congenital muscular dystrophy type 1A", + "synonyms": [ + "Merosin-negative congenital muscular dystrophy", + "Merosin-deficient congenital muscular dystrophy", + "Muscular dystrophy, congenital, merosin-deficient", + "MDC1A", + "Laminin alpha-2 deficiency", + "LAMA2-related muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0003844", + "name": "Limb-girdle muscular dystrophy type 2H", + "synonyms": [ + "Muscular dystrophy limb-girdle type 2H", + "Muscular dystrophy Hutterite type", + "LGMD2H", + "Sarcotubular myopathy" + ] + }, + { + "gard_id": "GARD:0003845", + "name": "Muscular dystrophy limb girdle type 2A, Erb type", + "synonyms": null + }, + { + "gard_id": "GARD:0003851", + "name": "Limb-girdle muscular dystrophy type 2E", + "synonyms": [ + "LGMD2E", + "Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency", + "Beta-sarcoglycan limb-girdle muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0003854", + "name": "Muscular dystrophy white matter spongiosis", + "synonyms": [ + "Atrophie blanche" + ] + }, + { + "gard_id": "GARD:0003855", + "name": "Muscular dystrophy, congenital, merosin-positive", + "synonyms": null + }, + { + "gard_id": "GARD:0003856", + "name": "Becker nevus syndrome", + "synonyms": [ + "Hairy epidermal nevus syndrome" + ] + }, + { + "gard_id": "GARD:0003857", + "name": "Muscular fibrosis multifocal obstructed vessels", + "synonyms": null + }, + { + "gard_id": "GARD:0003858", + "name": "Muscular phosphorylase kinase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0003862", + "name": "Mycetoma", + "synonyms": [ + "Madura foot" + ] + }, + { + "gard_id": "GARD:0003863", + "name": "Mycosis fungoides", + "synonyms": [ + "Granuloma fungoides", + "Alibert-Bazin syndrome" + ] + }, + { + "gard_id": "GARD:0003865", + "name": "Myelocerebellar disorder", + "synonyms": [ + "Ataxia-pancytopenia syndrome" + ] + }, + { + "gard_id": "GARD:0003867", + "name": "Myeloid splenomegaly", + "synonyms": [ + "Idiopathic myeloid splenomegaly" + ] + }, + { + "gard_id": "GARD:0003868", + "name": "Myeloperoxidase deficiency", + "synonyms": [ + "MPO deficiency" + ] + }, + { + "gard_id": "GARD:0003872", + "name": "GOSR2-related progressive myoclonus ataxia", + "synonyms": [ + "North Sea progressive myoclonus epilepsy", + "Progressive myoclonus epilepsy type 6", + "EPM6", + "PME type 6", + "Progressive myoclonic epilepsy type 6" + ] + }, + { + "gard_id": "GARD:0003873", + "name": "Myoclonus cerebellar ataxia deafness", + "synonyms": [ + "Myoclonus-cerebellar ataxia-deafness syndrome" + ] + }, + { + "gard_id": "GARD:0003875", + "name": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome", + "synonyms": [ + "Myoclonus hereditary progressive distal muscular atrophy", + "Hereditary myoclonus-progressive distal muscular atrophy syndrome", + "Jankovic-Rivera syndrome", + "Spinal muscular atrophy with progressive myoclonic epilepsy", + "SMA-PME" + ] + }, + { + "gard_id": "GARD:0003876", + "name": "Unverricht-Lundborg disease", + "synonyms": [ + "Myoclonus progressive epilepsy of Unverricht and Lundborg", + "EPM1", + "Epilepsy, progressive myoclonus 1", + "Progressive myoclonus epilepsy baltic myoclonic epilepsy", + "Myoclonic epilepsy of Unverricht and Lundborg", + "Epilepsy, progressive myoclonic type 1" + ] + }, + { + "gard_id": "GARD:0003879", + "name": "Myoglobinuria recurrent", + "synonyms": null + }, + { + "gard_id": "GARD:0003881", + "name": "Mitochondrial myopathy with diabetes", + "synonyms": [ + "Mitochondrial myopathy, lipid type" + ] + }, + { + "gard_id": "GARD:0003884", + "name": "Tubular aggregate myopathy", + "synonyms": [ + "Myopathy, tubular aggregate" + ] + }, + { + "gard_id": "GARD:0003885", + "name": "Mitochondrial myopathy and sideroblastic anemia", + "synonyms": [ + "Myopathy with lactic acidosis and sideroblastic anemia", + "MLASA", + "Myopathy, lactic acidosis and sideroblastic anemia", + "Sideroblastic anemia and mitochondrial myopathy" + ] + }, + { + "gard_id": "GARD:0003889", + "name": "Carey-Fineman-Ziter syndrome", + "synonyms": [ + "Carey Fineman Ziter syndrome", + "CFZ syndrome", + "Moebius sequence, Robin complex, and hypotonia", + "Myopathy, congenital nonprogressive with Moebius and Robin sequences", + "Congenital nonprogressive myopathy with Moebius and Robin sequences", + "CFZS", + "Carey-Fineman-Ziter syndrome", + "Myopathy-Moebius-Robin syndrome" + ] + }, + { + "gard_id": "GARD:0003892", + "name": "X-linked myopathy with excessive autophagy", + "synonyms": [ + "XMEA", + "Myopathy, X-linked, with excessive autophagy" + ] + }, + { + "gard_id": "GARD:0003896", + "name": "Inclusion body myositis", + "synonyms": [ + "IBM", + "Inflammatory myopathy", + "Sporadic inclusion body myositis" + ] + }, + { + "gard_id": "GARD:0003902", + "name": "N syndrome", + "synonyms": [ + "NSX", + "Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" + ] + }, + { + "gard_id": "GARD:0003903", + "name": "N-acetyl-alpha-D-galactosaminidase deficiency type III", + "synonyms": [ + "NAGA deficiency type 3", + "Schindler disease type 3", + "Alpha-N-acetylgalactosaminidase deficiency type 3" + ] + }, + { + "gard_id": "GARD:0003904", + "name": "Nijmegen breakage syndrome", + "synonyms": [ + "Berlin Breakage syndrome", + "Ataxia-Telangiectasia variant V1", + "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", + "Nonsyndromal microcephaly autosomal recessive with normal intelligence", + "Seemanova syndrome 2", + "Microcephaly immunodeficiency lymphoreticuloma" + ] + }, + { + "gard_id": "GARD:0003908", + "name": "Mitochondrial complex I deficiency", + "synonyms": [ + "Complex 1 mitochondrial respiratory chain deficiency", + "NADH coenzyme Q reductase deficiency", + "Mitochondrial NADH dehydrogenase component of complex I, deficiency of", + "NADH:Q(1) Oxidoreductase deficiency", + "Isolated complex I deficiency", + "Isolated mitochondrial respiratory chain complex I deficiency", + "Isolated NADH-coenzyme Q reductase deficiency", + "Isolated NADH-CoQ reductase deficiency", + "Isolated NADH-ubiquinone reductase deficiency" + ] + }, + { + "gard_id": "GARD:0003909", + "name": "NADH cytochrome B5 reductase deficiency", + "synonyms": [ + "Methemoglobinemia due to deficiency of methemoglobin reductase", + "NADH-dependent methemoglobin reductase deficiency", + "Diaphorase deficiency", + "NADH diaphorase deficiency", + "NADH methemoglobin reductase deficiency", + "Autosomal recessive methemoglobinemia" + ] + }, + { + "gard_id": "GARD:0003912", + "name": "Naegeli syndrome", + "synonyms": [ + "Naegeli-Franceschetti-Jadassohn syndrome", + "NFJ syndrome", + "Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy", + "NFJS" + ] + }, + { + "gard_id": "GARD:0003916", + "name": "Nakajo Nishimura syndrome", + "synonyms": [ + "Amyotrophy fat tissue anomaly" + ] + }, + { + "gard_id": "GARD:0003917", + "name": "Nakajo syndrome", + "synonyms": [ + "Nodular erythema digital changes" + ] + }, + { + "gard_id": "GARD:0003919", + "name": "Isolated growth hormone deficiency type 1B", + "synonyms": [ + "IGHD1B", + "IGHD 1B", + "Dwarfism of Sindh" + ] + }, + { + "gard_id": "GARD:0003921", + "name": "Isolated growth hormone deficiency type 3", + "synonyms": [ + "IGHD3", + "IGHD III", + "Growth hormone deficiency with hypogammaglobulinemia", + "Hypogammaglobulinemia and isolated growth hormone deficiency, x-linked", + "Agammaglobulinemia and isolated growth hormone deficiency, x-linked", + "Fleisher syndrome" + ] + }, + { + "gard_id": "GARD:0003924", + "name": "Growth hormone insensitivity with immunodeficiency", + "synonyms": [ + "Growth hormone insensitivity due to postreceptor defect", + "Laron syndrome due to postreceptor defect" + ] + }, + { + "gard_id": "GARD:0003927", + "name": "Nasopalpebral lipoma coloboma syndrome", + "synonyms": [ + "Palpebral coloboma lipoma Syndrome" + ] + }, + { + "gard_id": "GARD:0003928", + "name": "Natal teeth, intestinal pseudoobstruction and patent ductus", + "synonyms": [ + "Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth" + ] + }, + { + "gard_id": "GARD:0003929", + "name": "Nathalie syndrome", + "synonyms": [ + "Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics" + ] + }, + { + "gard_id": "GARD:0003931", + "name": "Rheumatoid factor-negative juvenile idiopathic arthritis", + "synonyms": [ + "Rheumatoid factor negative erosive chronic polyarthritis", + "Rheumatoid factor-negative polyarthritis", + "RF-ve CP", + "Juvenile rheumatoid factor-negative polyarthritis", + "Rheumatoid factor-negative JIA", + "Polyarthritis without rheumatoid factor" + ] + }, + { + "gard_id": "GARD:0003934", + "name": "Neonatal ovarian cyst", + "synonyms": [ + "Fetal ovarian cyst" + ] + }, + { + "gard_id": "GARD:0003936", + "name": "Perlman syndrome", + "synonyms": [ + "Nephroblastomatosis fetal ascites macrosomia and wilms tumor", + "Renal hamartomas, nephroblastomatosis, and fetal gigantism" + ] + }, + { + "gard_id": "GARD:0003940", + "name": "Nephropathy, deafness, and hyperparathyroidism", + "synonyms": [ + "Edwards Patton Dilly syndrome", + "Nephropathy - deafness - hyperparathyroidism" + ] + }, + { + "gard_id": "GARD:0003943", + "name": "Nephrosis deafness urinary tract digital malformation", + "synonyms": [ + "Nephrosis with deafness and urinary tract and digital malformations" + ] + }, + { + "gard_id": "GARD:0003945", + "name": "Nephrotic syndrome ocular anomalies", + "synonyms": [ + "Glastre Cochat Bouvier syndrome", + "Familial infantile nephrotic syndrome with ocular abnormalities" + ] + }, + { + "gard_id": "GARD:0003946", + "name": "Genetic steroid-resistant nephrotic syndrome", + "synonyms": [ + "Nephrotic syndrome, steroid-resistant, autosomal recessive", + "SRN1", + "Familial idiopathic nephrotic syndrome", + "Familial idiopathic steroid-resistant nephrotic syndrome", + "Genetic SRNS", + "Hereditary steroid-resistant nephrotic syndrome" + ] + }, + { + "gard_id": "GARD:0003947", + "name": "Congenital hyperinsulinism", + "synonyms": [ + "Persistent hyperinsulinemic hypoglycemia of infancy", + "PHHI", + "Hyperinsulinemic hypoglycemia familial", + "Hypoglycemia hyperinsulinemic of infancy", + "Hyperinsulinism familial with pancreatic nesidioblastosis", + "Nesidioblastosis of pancreas", + "Hyperinsulinism congenital", + "Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia", + "Familial hyperinsulinism", + "Congenital isolated hyperinsulinism", + "CHI" + ] + }, + { + "gard_id": "GARD:0003950", + "name": "Neural crest tumor", + "synonyms": [ + "Neural crest-derived tumors" + ] + }, + { + "gard_id": "GARD:0003953", + "name": "Galactosialidosis", + "synonyms": [ + "Goldberg syndrome", + "Neuraminidase deficiency with beta-galactosidase deficiency", + "Lysosomal protective protein deficiency of", + "Protective protein/Cathepsin A deficiency", + "Cathepsin A deficiency of", + "GSL", + "Neuraminidase/beta-galactosidase expression", + "PPCA deficiency" + ] + }, + { + "gard_id": "GARD:0003955", + "name": "Hereditary neuralgic amyotrophy", + "synonyms": [ + "Brachial plexus neuropathy, hereditary", + "Amyotrophy, hereditary neuralgic, with predilection for brachial plexus", + "Hereditary brachial plexus neuropathy", + "Neuritis with brachial predilection" + ] + }, + { + "gard_id": "GARD:0003956", + "name": "Chorea-acanthocytosis", + "synonyms": [ + "Acanthocytosis with neurologic disorder", + "ChAc", + "Choreoacanthocytosis", + "Chorea acanthocytosis" + ] + }, + { + "gard_id": "GARD:0003957", + "name": "Infantile neuroaxonal dystrophy", + "synonyms": [ + "Seitelberger disease", + "INAD", + "Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy", + "Neurodegeneration with brain iron accumulation 2B", + "NEUROAXONAL DYSTROPHY, ATYPICAL", + "KARAK SYNDROME, INCLUDED", + "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED", + "NBIA2B", + "Neuroaxonal dystrophy, infantile", + "INAD1", + "Phospholipase A2-associated neurodegeneration", + "PLAN" + ] + }, + { + "gard_id": "GARD:0003959", + "name": "Neuroectodermal endocrine syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0003963", + "name": "Neuroepithelioma", + "synonyms": null + }, + { + "gard_id": "GARD:0003964", + "name": "Neurofaciodigitorenal syndrome", + "synonyms": [ + "NFDR syndrome", + "Freire-Maia Pinheiro Opitz syndrome" + ] + }, + { + "gard_id": "GARD:0003967", + "name": "Multiple café-au-lait spots", + "synonyms": [ + "NF6", + "Multiple cafe´-au-lait syndrome", + "Familial cafe´-au-lait spots", + "Multiple cafe´-au-lait spots", + "Multiple cafe-au-lait spots", + "Autossomal dominant café-au-lait spots", + "Neurofibromatosis type 6" + ] + }, + { + "gard_id": "GARD:0003969", + "name": "Visceral neuropathy familial", + "synonyms": [ + "Intestinal pseudoobstruction due to neuronal disease", + "Argyrophil myenteric plexus deficiency of", + "Pseudoobstruction chronic idiopathic intestinal neuronal type" + ] + }, + { + "gard_id": "GARD:0003971", + "name": "Neuronal intranuclear inclusion disease", + "synonyms": [ + "NIID", + "Neuronal intranuclear hyaline inclusion disease" + ] + }, + { + "gard_id": "GARD:0003972", + "name": "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome", + "synonyms": [ + "Navajo neuropathy", + "NN", + "Navajo neurohepatopathy", + "Mitochondrial DNA depletion syndrome 6", + "MTDPS6" + ] + }, + { + "gard_id": "GARD:0003973", + "name": "Charcot-Marie-Tooth disease type 4D", + "synonyms": [ + "Charcot-Marie-Tooth Disease, Type 4D", + "NMSL", + "Hereditary motor and sensory neuropathy, LOM type", + "HMSNL", + "CMT4D", + "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE" + ] + }, + { + "gard_id": "GARD:0003976", + "name": "Hereditary sensory and autonomic neuropathy type 2", + "synonyms": [ + "HSAN2", + "Hereditary sensory neuropathy type 2", + "Hereditary sensory radicular neuropathy, recessive form", + "Neuropathy, progressive sensory, of children", + "Neuropathy, congenital sensory", + "Morvan disease", + "Neurogenic acroosteolysis", + "Giaccai type acroosteolysis" + ] + }, + { + "gard_id": "GARD:0003979", + "name": "Chanarin-Dorfman syndrome", + "synonyms": [ + "Triglyceride storage disease with impaired long-chain fatty acid oxidation", + "NLSDI", + "Neutral lipid storage disease with ichthyotic", + "Ichthyosiform erythroderma with leukocyte vacuolation", + "Dorfman Chanarin syndrome", + "DCS", + "Chanarin-Dorfman disease", + "CDS", + "Disorder of cornification 12 (neutral lipid storage type)" + ] + }, + { + "gard_id": "GARD:0003981", + "name": "Severe congenital neutropenia X-linked", + "synonyms": [ + "X-linked severe congenital neutropenia", + "XLN" + ] + }, + { + "gard_id": "GARD:0003983", + "name": "Neutropenia chronic familial", + "synonyms": [ + "Leukopenia benign familial", + "Chronic familial neutropenia" + ] + }, + { + "gard_id": "GARD:0003986", + "name": "Nevi flammei, familial multiple", + "synonyms": [ + "Port-wine stain familial multiple" + ] + }, + { + "gard_id": "GARD:0003992", + "name": "Niemann-Pick disease type C2", + "synonyms": [ + "NPC2" + ] + }, + { + "gard_id": "GARD:0003994", + "name": "Night blindness-skeletal anomalies-dysmorphism syndrome", + "synonyms": [ + "Hunter Thompson Reed syndrome", + "Hunter-Thompson-Reed syndrome" + ] + }, + { + "gard_id": "GARD:0003995", + "name": "X-linked congenital stationary night blindness", + "synonyms": [ + "X-linked CSNB", + "Congenital stationary night blindness with myopia", + "Hemeralopia-myopia", + "Myopia-night blindness" + ] + }, + { + "gard_id": "GARD:0003999", + "name": "Noble Bass Sherman syndrome", + "synonyms": [ + "Ectopia lentis chorioretinal dystrophy myopia" + ] + }, + { + "gard_id": "GARD:0004001", + "name": "Noma", + "synonyms": [ + "Cancrum oris", + "Oro-facial gangrene", + "Noma neonatorum", + "Oro-facial noma", + "Oral gangrene" + ] + }, + { + "gard_id": "GARD:0004002", + "name": "Non functioning pancreatic endocrine tumor", + "synonyms": [ + "Non-functioning EPTs", + "Non-functioning endocrine pancreatic tumors" + ] + }, + { + "gard_id": "GARD:0004003", + "name": "Maternally inherited diabetes and deafness", + "synonyms": [ + "Diabetes and deafness, maternally inherited", + "MIDD", + "Ballinger Wallace syndrome", + "Diabetes mellitus type II with deafness", + "Diabetes-deafness syndrome, maternally transmitted" + ] + }, + { + "gard_id": "GARD:0004010", + "name": "Northern epilepsy", + "synonyms": [ + "CLN8", + "Neuronal ceroid lipofuscinosis 8", + "Ceroid lipofuscinosis neuronal 8", + "CLN8 disease, late infantile (subtype)", + "CLN8 disease, EPMR (subtype)", + "CLN8 disease, Northern epilepsy variant", + "NCL, Northern epilepsy variant", + "Neuronal ceroid lipofuscinosis, Northern epilepsy variant", + "Progressive epilepsy - intellectual disability, Finnish type", + "Progressive epilepsy-intellectual disability syndrome, Finnish type" + ] + }, + { + "gard_id": "GARD:0004011", + "name": "Familial LCAT deficiency", + "synonyms": [ + "Norum disease", + "Complete LCAT deficiency", + "FLD" + ] + }, + { + "gard_id": "GARD:0004017", + "name": "Occipital horn syndrome", + "synonyms": [ + "OHS", + "Cutis laxa X-linked", + "Ehlers-Danlos syndrome, occipital horn type (formerly)", + "EDS IX (formerly)" + ] + }, + { + "gard_id": "GARD:0004018", + "name": "Tethered cord syndrome", + "synonyms": [ + "Occult spinal dysraphism sequence", + "Tethered spinal cord syndrome", + "Segmental vertebral anomalies", + "Occult spinal dysraphism" + ] + }, + { + "gard_id": "GARD:0004021", + "name": "Oculo-cerebral dysplasia", + "synonyms": [ + "Behrens-Baumann-Vogel syndrome", + "Behrens Baumann Dust syndrome", + "Microphthalmia-optic nerve dysplasia", + "Unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus" + ] + }, + { + "gard_id": "GARD:0004025", + "name": "Oculo digital syndrome", + "synonyms": [ + "Chemke-Oliver-Mallek syndrome", + "Chemke Oliver Mallek syndrome", + "Multiple ophthalmic anomalies and digital hypoplasia" + ] + }, + { + "gard_id": "GARD:0004028", + "name": "Oculo skeletal renal syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004031", + "name": "Oculoauriculofrontonasal syndrome", + "synonyms": [ + "OAFNS", + "Oculoauriculofrontonasal dysplasia" + ] + }, + { + "gard_id": "GARD:0004034", + "name": "Oculocerebral hypopigmentation syndrome type Preus", + "synonyms": null + }, + { + "gard_id": "GARD:0004037", + "name": "Oculocutaneous albinism type 1", + "synonyms": [ + "OCA1", + "Oculocutaneous albinism type 1A", + "OCA1A", + "Oculocutaneous albinism, tyrosinase negative", + "ATN", + "Albinism 1" + ] + }, + { + "gard_id": "GARD:0004038", + "name": "Oculocutaneous albinism type 2", + "synonyms": [ + "OCA2", + "Oculocutaneous albinism tyrosinase positive", + "Albinism 2", + "Albinism, oculocutaneous, type 2", + "Albinoidism", + "Tyrosinase-positive oculocutaneous albinism" + ] + }, + { + "gard_id": "GARD:0004039", + "name": "Oculocutaneous albinism type 3", + "synonyms": [ + "OCA3", + "Albinism, oculocutaneous, type 3", + "Albinism 3" + ] + }, + { + "gard_id": "GARD:0004043", + "name": "Oculodentodigital dysplasia dominant", + "synonyms": null + }, + { + "gard_id": "GARD:0004045", + "name": "Oculodentoosseous dysplasia recessive", + "synonyms": [ + "ODOD recessive" + ] + }, + { + "gard_id": "GARD:0004046", + "name": "Oculomaxillofacial dysostosis", + "synonyms": [ + "Richieri Costa Gorlin syndrome", + "Oculomaxillofacial dysplasia with oblique facial clefts", + "Oblique facial clefts" + ] + }, + { + "gard_id": "GARD:0004047", + "name": "Distal arthrogryposis type 5", + "synonyms": [ + "Arthrogryposis ophthalmoplegia retinopathy", + "Oculomelic amyoplasia", + "Arthrogryposis with oculomotor limitation and electroretinal abnormalities", + "Distal arthrogryposis with ophthalmoplegia", + "Arthogryposis with oculomotor limitation and electroretinal abnormalities", + "Distal arthrogryposis type IIB", + "Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", + "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" + ] + }, + { + "gard_id": "GARD:0004050", + "name": "Oculorenocerebellar syndrome", + "synonyms": [ + "ORC syndrome", + "Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy" + ] + }, + { + "gard_id": "GARD:0004051", + "name": "Odonto onycho dysplasia with alopecia", + "synonyms": null + }, + { + "gard_id": "GARD:0004053", + "name": "Odontomicronychial dysplasia", + "synonyms": [ + "Odonto-micronychial dysplasia" + ] + }, + { + "gard_id": "GARD:0004054", + "name": "Odontoonychodermal dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0004060", + "name": "Orofaciodigital syndrome 8", + "synonyms": [ + "OFD8", + "OFD syndrome 8", + "Orofaciodigital syndrome type 8", + "Orofaciodigital syndrome VIII", + "Oral-facial-digital syndrome type 8", + "Oral facial digital syndrome type 8", + "Oral facial digital syndrome 8", + "OFDS 8", + "Oral-facial-digital syndrome with hypoplastic epiglottis" + ] + }, + { + "gard_id": "GARD:0004061", + "name": "Orofaciodigital syndrome 10", + "synonyms": [ + "OFD10", + "Oral-facial-digital syndrome 10", + "OFD syndrome 10", + "Orofaciodigital syndrome type Figuera", + "OFDS 10", + "Orofaciodigital syndrome with fibular aplasia", + "Oral-facial-digital syndrome with fibular aplasia", + "Orofaciodigital syndrome X", + "Oral facial digital syndrome 10", + "Oral facial digital syndrome type 10" + ] + }, + { + "gard_id": "GARD:0004062", + "name": "Infantile onset spinocerebellar ataxia", + "synonyms": [ + "Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis", + "OHAHA syndrome", + "IOSCA", + "Spinocerebellar ataxia 8 (formerly)", + "SCA8 (formerly)", + "Spinocerebellar ataxia infantile with sensory neuropathy", + "Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis", + "Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome" + ] + }, + { + "gard_id": "GARD:0004064", + "name": "Okamoto syndrome", + "synonyms": [ + "Congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation" + ] + }, + { + "gard_id": "GARD:0004065", + "name": "Oligodactyly tetramelic postaxial", + "synonyms": null + }, + { + "gard_id": "GARD:0004066", + "name": "Oligomeganephronic renal hypoplasia", + "synonyms": [ + "Oligomeganephronia" + ] + }, + { + "gard_id": "GARD:0004069", + "name": "Oliver syndrome", + "synonyms": [ + "Postaxial polydactyly-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0004070", + "name": "Olivopontocerebellar atrophy deafness", + "synonyms": null + }, + { + "gard_id": "GARD:0004071", + "name": "Spinocerebellar ataxia 1", + "synonyms": [ + "SCA1", + "Spinocerebellar ataxia type 1", + "Olivopontocerebellar atrophy 1", + "OPCA1", + "Cerebelloparenchymal disorder 1", + "Menzel type OPCA", + "Olivopontocerebellar atrophy 4", + "OPCA4", + "Schut-Haymaker type OPCA", + "Spinocerebellar atrophy 1" + ] + }, + { + "gard_id": "GARD:0004072", + "name": "Spinocerebellar ataxia 2", + "synonyms": [ + "SCA 2", + "Spinocerebellar ataxia type 2", + "Spinocerebellar atrophy 2", + "Spinocerebellar ataxia Cuban type", + "Olivopontocerebellar atrophy 2", + "Spinocerebellar ataxia with slow eye movements", + "Wadia Swami syndrome", + "Spinocerebellar degeneration with slow eye movements", + "SDSEM", + "Olivopontocerebellar atrophy Holguin type" + ] + }, + { + "gard_id": "GARD:0004075", + "name": "Olmsted syndrome", + "synonyms": [ + "Mutilating palmoplantar keratoderma with periorificial keratotic plaques" + ] + }, + { + "gard_id": "GARD:0004076", + "name": "Omodysplasia 1", + "synonyms": [ + "OMOD1", + "Omodysplasia generalized form", + "Omodysplasia autosomal recessive", + "Micromelic dysplasia congenita with dislocation of radius" + ] + }, + { + "gard_id": "GARD:0004079", + "name": "Omphalocele cleft palate syndrome lethal", + "synonyms": [ + "Cleft palate-omphalocele syndrome, lethal", + "Lethal omphalocele-cleft palate syndrome", + "Czeizel syndrome" + ] + }, + { + "gard_id": "GARD:0004080", + "name": "Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex", + "synonyms": [ + "OEIS complex", + "Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects", + "Cloacal exstrophy sequence", + "Cloacal exstrophy", + "Omphalocele - cloacal exstrophy - imperforate anus - spinal defect", + "Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" + ] + }, + { + "gard_id": "GARD:0004081", + "name": "Omphalomesenteric cyst", + "synonyms": null + }, + { + "gard_id": "GARD:0004083", + "name": "Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges", + "synonyms": [ + "Anonychia and absence/hypoplasia of distal phalanges", + "Cooks syndrome" + ] + }, + { + "gard_id": "GARD:0004085", + "name": "Poikiloderma with neutropenia", + "synonyms": [ + "Poikiloderma with neutropenia Clericuzio type", + "Clericuzio type poikiloderma with neutropenia" + ] + }, + { + "gard_id": "GARD:0004089", + "name": "Opthalmomandibulomelic dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0004098", + "name": "Opsismodysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0004102", + "name": "Optic atrophy polyneuropathy deafness", + "synonyms": [ + "Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive", + "Optic atrophy, neural deafness, and distal neurogenic amyotrophy" + ] + }, + { + "gard_id": "GARD:0004106", + "name": "Renal coloboma syndrome", + "synonyms": [ + "Papillorenal syndrome", + "Optic nerve coloboma with renal disease", + "Optic coloboma, vesicoureteral reflux, and renal anomalies", + "Coloboma of optic nerve with renal disease" + ] + }, + { + "gard_id": "GARD:0004107", + "name": "Optic pathway glioma", + "synonyms": null + }, + { + "gard_id": "GARD:0004114", + "name": "Organic mood syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004116", + "name": "Oro-mandibular-limb hypogenesis syndrome", + "synonyms": [ + "Oroacral syndrome" + ] + }, + { + "gard_id": "GARD:0004118", + "name": "Orofaciodigital syndrome 11", + "synonyms": [ + "OFD11", + "Orofaciodigital syndrome XI", + "Oral-facial-digital syndrome type 11", + "Oral-facial-digital syndrome with skeletal anomalies", + "Gabrielli syndrome", + "OFD syndrome 11", + "OFDS 11", + "Oral facial digital syndrome 11", + "Oral facial digital syndrome type 11" + ] + }, + { + "gard_id": "GARD:0004119", + "name": "Mental retardation X-linked syndromic 11", + "synonyms": [ + "MRXS11", + "Shashi X-linked mental retardation syndrome", + "SMRXS", + "Mental retardation X-linked Shashi type" + ] + }, + { + "gard_id": "GARD:0004120", + "name": "Orofaciodigital syndrome 5", + "synonyms": [ + "OFD5", + "Oral-facial-digital syndrome 5", + "Thurston syndrome", + "Polydactyly postaxial with median cleft of upper lip", + "OFD syndrome 5", + "Orofaciodigital syndrome V", + "Oral facial digital syndrome type 5", + "Oral facial digital syndrome 5", + "OFDS 5" + ] + }, + { + "gard_id": "GARD:0004121", + "name": "Orofaciodigital syndrome 1", + "synonyms": [ + "OFD1", + "OFD syndrome 1", + "Oral-facial-digital syndrome type 1", + "Papillon-League-Psaume syndrome (formerly)", + "Orofaciodigital syndrome I", + "Oral-facial-digital syndrome 1", + "Oral facial digital syndrome 1", + "Oral facial digital syndrome type 1", + "OFDS 1" + ] + }, + { + "gard_id": "GARD:0004129", + "name": "Oslam syndrome", + "synonyms": [ + "Osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia", + "Osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" + ] + }, + { + "gard_id": "GARD:0004130", + "name": "OSMED Syndrome", + "synonyms": [ + "Oto-Spondylo-Mega-Epiphyseal Dysplasia", + "OSMED", + "Otospondylomegaepiphyseal dysplasia", + "Nance-Insley syndrome", + "Nance Sweeney chondrodysplasia", + "Chondrodystrophy with sensorineural deafness", + "Insley-Astley syndrome" + ] + }, + { + "gard_id": "GARD:0004131", + "name": "Osteoarthropathy of fingers familial", + "synonyms": [ + "Thiemann's disease", + "Thiemann epiphyseal disease" + ] + }, + { + "gard_id": "GARD:0004133", + "name": "Familial osteochondritis dissecans", + "synonyms": [ + "Osteochondritis dissecans, short stature, and early-onset osteoarthritis" + ] + }, + { + "gard_id": "GARD:0004136", + "name": "Osteodysplasia familial Anderson type", + "synonyms": null + }, + { + "gard_id": "GARD:0004142", + "name": "Osteoglophonic dysplasia", + "synonyms": [ + "Osteoglophonic dwarfism", + "Fairbank-Keats syndrome", + "OGD" + ] + }, + { + "gard_id": "GARD:0004144", + "name": "Autosomal recessive distal osteolysis syndrome", + "synonyms": [ + "Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance", + "Recessive osteolysis syndrome", + "Petit-Fryns syndrome", + "Distal osteolysis-short stature-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0004148", + "name": "Osteopathia striata cranial sclerosis", + "synonyms": [ + "OSCS", + "Hyperostosis generalisata with striations", + "Osteopathia striata - cranial sclerosis", + "Robinow-Unger syndrome", + "Osteopathia striata-cranial sclerosis syndrome", + "Voorhoeve disease" + ] + }, + { + "gard_id": "GARD:0004151", + "name": "Osteopetrosis autosomal dominant type 1", + "synonyms": [ + "OPTA1", + "Autosomal dominant osteopetrosis type 1" + ] + }, + { + "gard_id": "GARD:0004153", + "name": "Osteopetrosis autosomal recessive 5", + "synonyms": [ + "OPTB5", + "Autosomal recessive osteopetrosis type 5", + "Osteopetrosis infantile malignant 3" + ] + }, + { + "gard_id": "GARD:0004154", + "name": "Osteopetrosis autosomal recessive 3", + "synonyms": [ + "OPTB3", + "Autosomal recessive osteopetrosis type 3", + "Osteopetrosis with renal tubular acidosis", + "Guibaud Vainsel syndrome", + "Marble brain disease", + "Carbonic anhydrase 2 deficiency" + ] + }, + { + "gard_id": "GARD:0004155", + "name": "Osteopetrosis", + "synonyms": [ + "Osteopetroses", + "Marble bones", + "Marble bone disease", + "Albers-Schonberg disease", + "Osteosclerosis fragilis", + "Albers-Schonberg osteopetrosis", + "Albers-Schoenberg disease", + "Osteopetrosis and related disorders" + ] + }, + { + "gard_id": "GARD:0004156", + "name": "Osteopetrosis autosomal recessive 6", + "synonyms": [ + "OPTB6", + "Autosomal recessive osteopetrosis type 6", + "Osteopetrosis autosomal recessive intermediate form" + ] + }, + { + "gard_id": "GARD:0004157", + "name": "Osteopetrosis autosomal recessive 2", + "synonyms": [ + "OPTB2", + "Autosomal recessive osteopetrosis type 2", + "Osteopetrosis osteoclast-poor" + ] + }, + { + "gard_id": "GARD:0004158", + "name": "Osteopoikilosis", + "synonyms": [ + "Spotted bones", + "Osteopathia condensans disseminata" + ] + }, + { + "gard_id": "GARD:0004160", + "name": "Osteoporosis-pseudoglioma syndrome", + "synonyms": [ + "OPPG", + "OPS", + "Osteogenesis imperfecta ocular form", + "Pseudoglioma with bone fragility", + "Osteoporosis pseudoglioma syndrome" + ] + }, + { + "gard_id": "GARD:0004166", + "name": "Heart defect-tongue hamartoma-polysyndactyly syndrome", + "synonyms": [ + "Congenital heart defects, hamartomas of tongue, and polysyndactyly", + "Orstavik Lindemann Solberg syndrome", + "Ostravik-Lindemann-Solberg syndrome" + ] + }, + { + "gard_id": "GARD:0004168", + "name": "Otodental dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0004169", + "name": "Otofaciocervical syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004170", + "name": "Otoonychoperoneal syndrome", + "synonyms": [ + "Oto-onycho-peroneal syndrome" + ] + }, + { + "gard_id": "GARD:0004174", + "name": "Otosclerosis, familial", + "synonyms": null + }, + { + "gard_id": "GARD:0004176", + "name": "Ouvrier Billson syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004183", + "name": "Overhydrated hereditary stomatocytosis", + "synonyms": [ + "Potassium sodium disorder of erythrocyte", + "Stomatocytosis I" + ] + }, + { + "gard_id": "GARD:0004189", + "name": "Pacman dysplasia", + "synonyms": [ + "Pacman syndrome", + "Epiphyseal stippling with osteoclastic hyperplasia" + ] + }, + { + "gard_id": "GARD:0004191", + "name": "Paget disease of bone, familial", + "synonyms": [ + "Familial Paget disease of bone" + ] + }, + { + "gard_id": "GARD:0004192", + "name": "Extramammary Paget disease", + "synonyms": [ + "Paget disease, extramammary", + "EMPD" + ] + }, + { + "gard_id": "GARD:0004195", + "name": "Pagon Stephan syndrome", + "synonyms": [ + "Septo-optic dysplasia with digital anomalies" + ] + }, + { + "gard_id": "GARD:0004198", + "name": "Palant cleft palate syndrome", + "synonyms": [ + "Unusual facies, cleft palate, mental retardation, and limb abnormalities" + ] + }, + { + "gard_id": "GARD:0004199", + "name": "Palmer Pagon syndrome", + "synonyms": [ + "Familial hydrocephalus with a low-insertion umbilicus", + "Hydrocephaly - low insertion umbilicus" + ] + }, + { + "gard_id": "GARD:0004203", + "name": "Agenesis of the dorsal pancreas", + "synonyms": [ + "Pancreas, dorsal, agenesis of", + "Pancreas agenesis, dorsal", + "Complete agenesis of the dorsal pancreas", + "Partial agenesis of the dorsal pancreas", + "Congenital short pancreas", + "Congenital pancreatic agenesis", + "Partial pancreatic agenesis" + ] + }, + { + "gard_id": "GARD:0004204", + "name": "Pancreatic adenoma", + "synonyms": null + }, + { + "gard_id": "GARD:0004206", + "name": "Familial pancreatic cancer", + "synonyms": [ + "Hereditary pancreatic carcinoma", + "Familial pancreatic carcinoma", + "Hereditary pancreatic cancer" + ] + }, + { + "gard_id": "GARD:0004208", + "name": "Pancreatic lipomatosis duodenal stenosis", + "synonyms": [ + "Pancreatic lipomatosis and duodenal atresia" + ] + }, + { + "gard_id": "GARD:0004210", + "name": "Pancreatoblastoma", + "synonyms": null + }, + { + "gard_id": "GARD:0004213", + "name": "Panostotic fibrous dysplasia", + "synonyms": [ + "Unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia" + ] + }, + { + "gard_id": "GARD:0004214", + "name": "Choroid plexus papilloma", + "synonyms": [ + "Papilloma of choroid plexus" + ] + }, + { + "gard_id": "GARD:0004215", + "name": "Parainfluenza virus type 3", + "synonyms": [ + "Human parainfluenza virus type 3", + "PIV3" + ] + }, + { + "gard_id": "GARD:0004218", + "name": "Paraomphalocele", + "synonyms": [ + "Type - Epigastric - defect in the cephalic fold", + "Type - Hypogastric - defect in the caudal fold" + ] + }, + { + "gard_id": "GARD:0004219", + "name": "Spastic paraplegia 17", + "synonyms": [ + "SPG17", + "Spastic paraplegia with amyotrophy of hands and feet", + "Silver syndrome", + "Silver spastic paraplegia syndrome", + "Autosomal dominant spastic paraplegia type 17" + ] + }, + { + "gard_id": "GARD:0004222", + "name": "Parastremmatic dwarfism", + "synonyms": [ + "Parastremmatic dysplasia" + ] + }, + { + "gard_id": "GARD:0004223", + "name": "PARC syndrome", + "synonyms": [ + "Poikiloderma, Alopecia, Retrognathism, and Cleft palate" + ] + }, + { + "gard_id": "GARD:0004224", + "name": "Paris-Trousseau thrombocytopenia", + "synonyms": [ + "TCPT", + "Thrombocytopenia Paris-Trousseau type", + "Paris-Trousseau syndrome" + ] + }, + { + "gard_id": "GARD:0004227", + "name": "Paroxysmal ventricular fibrillation", + "synonyms": [ + "Ventricular fibrillation, paroxysmal familial", + "Paroxysmal familial ventricular fibrillation", + "Idiopathic ventricular fibrillation", + "IVF" + ] + }, + { + "gard_id": "GARD:0004228", + "name": "Parsonage Turner syndrome", + "synonyms": [ + "Acute brachial neuritis", + "Acute brachial neuritis syndrome", + "Acute brachial radiculitis syndrome", + "Acute shoulder neuritis", + "Idiopathic neuralgic amyotrophy" + ] + }, + { + "gard_id": "GARD:0004229", + "name": "Partial atrioventricular canal", + "synonyms": [ + "Partial AVSD", + "Partial atrioventricular septal defects", + "Partial common atrioventricular canal" + ] + }, + { + "gard_id": "GARD:0004230", + "name": "Partial deletion of Y", + "synonyms": [ + "Y-chromosome microdeletions", + "Partial deletion of chromosome Y", + "Partial deletion of Y chromosome short arm", + "Partial deletion of the long arm of the Y chromosome" + ] + }, + { + "gard_id": "GARD:0004235", + "name": "Partington syndrome", + "synonyms": [ + "Partington X-linked mental retardation syndrome", + "PRTS", + "Intellectual disability, X-linked, syndromic 1", + "MRXS1", + "Intelectual disability-dystonic movements-ataxia-seizures syndrome", + "Intellectual disability, X-linked, with dystonic movements, ataxia, and seizures" + ] + }, + { + "gard_id": "GARD:0004236", + "name": "Parvovirus antenatal infection", + "synonyms": [ + "Parvovirus B19 antenatal infection", + "Fifth Disease", + "Maternofetal infection by parvovirus" + ] + }, + { + "gard_id": "GARD:0004238", + "name": "Blepharonasofacial malformation syndrome", + "synonyms": [ + "Pashayan syndrome" + ] + }, + { + "gard_id": "GARD:0004259", + "name": "Patterson pseudoleprechaunism syndrome", + "synonyms": [ + "Patterson's leprechaunoid syndrome" + ] + }, + { + "gard_id": "GARD:0004260", + "name": "Patterson-Stevenson-Fontaine syndrome", + "synonyms": [ + "Split-foot deformity with ectrodactyly and mandibulofacial dysostosis", + "Patterson Stevenson Fontaine syndrome" + ] + }, + { + "gard_id": "GARD:0004261", + "name": "Pauciarticular chronic arthritis", + "synonyms": null + }, + { + "gard_id": "GARD:0004264", + "name": "PEHO syndrome", + "synonyms": [ + "Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy", + "Infantile cerebellooptic atrophy" + ] + }, + { + "gard_id": "GARD:0004265", + "name": "Pelizaeus-Merzbacher disease", + "synonyms": [ + "PMD", + "Pelizaeus Merzbacher disease", + "Pelizaeus Merzbacher brain sclerosis" + ] + }, + { + "gard_id": "GARD:0004266", + "name": "Leukodystrophy, hypomyelinating 3", + "synonyms": [ + "Perinatal Sudanophilic leukodystrophy" + ] + }, + { + "gard_id": "GARD:0004267", + "name": "Pellagra like syndrome", + "synonyms": [ + "Pellagra-like rash with neurologic manifestations" + ] + }, + { + "gard_id": "GARD:0004268", + "name": "Tryptophanuria with dwarfism", + "synonyms": null + }, + { + "gard_id": "GARD:0004269", + "name": "Pelvic dysplasia arthrogryposis of lower limbs", + "synonyms": [ + "Pelvic hypoplasia with arthrogryposis of lower limbs", + "Pelvic hypoplasia with lower limb arthrogryposis" + ] + }, + { + "gard_id": "GARD:0004271", + "name": "Pendred syndrome", + "synonyms": [ + "PDS", + "Deafness with goiter", + "Goiter-deafness syndrome", + "Autosomal recessive sensorineural hearing impairment and goiter" + ] + }, + { + "gard_id": "GARD:0004272", + "name": "Penis agenesis", + "synonyms": [ + "Penis agenesia", + "Agenesis of the penis", + "Micropenis" + ] + }, + { + "gard_id": "GARD:0004273", + "name": "Penoscrotal transposition", + "synonyms": [ + "Prepenile scrotum", + "Congenital transposition of the penis" + ] + }, + { + "gard_id": "GARD:0004276", + "name": "Acroosteolysis-keloid-like lesions-premature aging syndrome", + "synonyms": [ + "Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly", + "Premature aging syndrome Penttinen type", + "Penttinen-Aula syndrome", + "Premature aging syndrome, Penttinen type" + ] + }, + { + "gard_id": "GARD:0004278", + "name": "PEPCK 1 deficiency", + "synonyms": [ + "Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency", + "Phosphopyruvate carboxylase deficiency", + "Phosphoenolpyruvate carboxylase deficiency", + "Phosphoenolpyruvate carboxykinase deficiency", + "PEP carboxykinase deficiency" + ] + }, + { + "gard_id": "GARD:0004279", + "name": "PEPCK 2 deficiency", + "synonyms": [ + "Phosphoenolpyruvate carboxykinase 2 deficiency", + "PCK2 deficiency", + "PEPCK2" + ] + }, + { + "gard_id": "GARD:0004291", + "name": "Alopecia intellectual disability syndrome 2", + "synonyms": [ + "APMR2", + "AMR syndrome 2", + "Alopecia with mild to moderate intellectual deficit", + "Alopecia intellectual disability syndrome 2" + ] + }, + { + "gard_id": "GARD:0004302", + "name": "Mesomelia-synostoses syndrome", + "synonyms": [ + "Mesomelia synostoses", + "Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis", + "Verloes-David syndrome" + ] + }, + { + "gard_id": "GARD:0004303", + "name": "Pfeiffer Kapferer syndrome", + "synonyms": [ + "Short stature, mental retardation and multiple dysmorphisms", + "Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5" + ] + }, + { + "gard_id": "GARD:0004304", + "name": "Pfeiffer Mayer syndrome", + "synonyms": [ + "Short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities" + ] + }, + { + "gard_id": "GARD:0004305", + "name": "Pfeiffer Palm Teller syndrome", + "synonyms": [ + "PPT syndrome", + "Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice" + ] + }, + { + "gard_id": "GARD:0004306", + "name": "Pfeiffer Rockelein syndrome", + "synonyms": [ + "Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia" + ] + }, + { + "gard_id": "GARD:0004308", + "name": "Pfeiffer Tietze Welte syndrome", + "synonyms": [ + "Sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th" + ] + }, + { + "gard_id": "GARD:0004311", + "name": "Phacomatosis pigmentokeratotica", + "synonyms": [ + "Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" + ] + }, + { + "gard_id": "GARD:0004312", + "name": "Phacomatosis pigmentovascularis", + "synonyms": [ + "Association of cutaneous vascular malformations and different pigmentary disorders", + "PPV", + "Phakomatosis pigmentovascularis" + ] + }, + { + "gard_id": "GARD:0004315", + "name": "Phenobarbital antenatal exposure", + "synonyms": [ + "Phenobarbital embryopathy" + ] + }, + { + "gard_id": "GARD:0004319", + "name": "Dihydropteridine reductase deficiency", + "synonyms": [ + "DHPR deficiency", + "Hyperphenylalaninemia, BH-4-deficient, C", + "Hyperphenylalaninemia due to dihydropteridine reductase deficiency", + "Phenylketonuria type 2", + "Quinoid dihydropteridine reductase deficiency", + "QDPR deficiency", + "PKU type 2" + ] + }, + { + "gard_id": "GARD:0004321", + "name": "Pheochromocytoma-islet cell tumor syndrome", + "synonyms": [ + "Pheochromocytoma and islet cell tumor of the pancreas" + ] + }, + { + "gard_id": "GARD:0004323", + "name": "Phocomelia ectrodactyly deafness sinus arrhythmia", + "synonyms": [ + "Stoll-Levy-Francfort syndrome", + "Stoll-Lévy-Francfort syndrome", + "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome" + ] + }, + { + "gard_id": "GARD:0004329", + "name": "PGM1-CDG", + "synonyms": [ + "GSD type 14", + "GSDXIV", + "Phosphoglucomutase deficiency type 1", + "Type 14 glycogenosis", + "Congenital disorder of glycosylation, type It", + "Glycogen storage disease due to phosphoglucomutase deficiency", + "CDG syndrome type It", + "CDG-It", + "CDG1T", + "Congenital disorder of glycosylation type 1t", + "Congenital disorder of glycosylation type It", + "Phosphoglucomutase-1 deficiency", + "PGM1-related congenital disorder of glycosylation" + ] + }, + { + "gard_id": "GARD:0004331", + "name": "PGM3-CDG", + "synonyms": [ + "Phosphoglucomutase 3 deficiency", + "CID due to PGM3 deficiency", + "PGM3-related congenital disorder of glycosylation", + "Combined immunodeficiency due to PGM3 deficiency", + "Immunodeficiency 23", + "Phosphoglucomutase deficiency type 3" + ] + }, + { + "gard_id": "GARD:0004336", + "name": "Phosphomannoisomerase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0004337", + "name": "Phosphoribosylpyrophosphate synthetase superactivity", + "synonyms": [ + "PRPP synthetase deficiency", + "PRPP synthetase superactivity", + "PRPS1 superactivity" + ] + }, + { + "gard_id": "GARD:0004344", + "name": "Piebaldism", + "synonyms": [ + "PBT" + ] + }, + { + "gard_id": "GARD:0004345", + "name": "Piepkorn Karp Hickok syndrome", + "synonyms": [ + "Short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect" + ] + }, + { + "gard_id": "GARD:0004346", + "name": "Autosomal dominant cerebellar ataxia", + "synonyms": [ + "ADCA", + "Pierre Marie cerebellar ataxia (formerly)" + ] + }, + { + "gard_id": "GARD:0004347", + "name": "Pierre Robin sequence", + "synonyms": [ + "Pierre-Robin syndrome", + "Glossoptosis, micrognathia, and cleft palate" + ] + }, + { + "gard_id": "GARD:0004351", + "name": "Weissenbacher-Zweymuller syndrome", + "synonyms": [ + "WZS", + "Pierre Robin syndrome with fetal chondrodysplasia", + "Weissenbacher-Zweymüller syndrome" + ] + }, + { + "gard_id": "GARD:0004354", + "name": "Pierre Robin syndrome skeletal dysplasia polydactyly", + "synonyms": null + }, + { + "gard_id": "GARD:0004356", + "name": "Pigment-dispersion syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004357", + "name": "Late-onset retinal degeneration", + "synonyms": [ + "Pigmentary retinopathy", + "Autosomal dominant late-onset retinal degeneration", + "Retinal degeneration, late-onset, autosomal dominant", + "LORD" + ] + }, + { + "gard_id": "GARD:0004358", + "name": "T-cell immunodeficiency, congenital alopecia and nail dystrophy", + "synonyms": [ + "Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency", + "Pignata Guarino syndrome", + "Alymphoid cystic thymic dysgenesis", + "FOXN1 deficiency", + "Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome", + "Winged helix deficiency", + "Severe combined immunodeficiency due to FOXN1 deficiency" + ] + }, + { + "gard_id": "GARD:0004359", + "name": "Pili annulati", + "synonyms": [ + "Ringed hair" + ] + }, + { + "gard_id": "GARD:0004361", + "name": "Pili torti", + "synonyms": [ + "Twisted hair", + "Coarse, dry, lusterless hair which breaks off easily" + ] + }, + { + "gard_id": "GARD:0004362", + "name": "Pili torti developmental delay neurological abnormalities", + "synonyms": [ + "Pili torti and developmental delay" + ] + }, + { + "gard_id": "GARD:0004364", + "name": "Pili torti onychodysplasia", + "synonyms": [ + "Twisted hair with nail dysplasias" + ] + }, + { + "gard_id": "GARD:0004365", + "name": "Pillay syndrome", + "synonyms": [ + "Ophthalmo-mandibulo-melic dysplasia", + "OMM syndrome" + ] + }, + { + "gard_id": "GARD:0004368", + "name": "Pilotto syndrome", + "synonyms": [ + "Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation" + ] + }, + { + "gard_id": "GARD:0004369", + "name": "Pinheiro Freire-Maia Miranda syndrome", + "synonyms": [ + "Trichodermodysplasia with dental alterations" + ] + }, + { + "gard_id": "GARD:0004371", + "name": "Refsum disease with increased pipecolic acidemia", + "synonyms": [ + "RDPA" + ] + }, + { + "gard_id": "GARD:0004372", + "name": "Pitt-Hopkins syndrome", + "synonyms": [ + "Pitt Hopkins syndrome", + "Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea" + ] + }, + { + "gard_id": "GARD:0004375", + "name": "Piussan Lenaerts Mathieu syndrome", + "synonyms": [ + "Thumb ankylosis with mental retardation" + ] + }, + { + "gard_id": "GARD:0004380", + "name": "Type 1 plasminogen deficiency", + "synonyms": [ + "Hypoplasminogenemia" + ] + }, + { + "gard_id": "GARD:0004381", + "name": "Plasminogen activator inhibitor type 1 deficiency", + "synonyms": [ + "Plasminogen activator inhibitor 1 deficiency", + "PAI-1 deficiency", + "Hyperfibrinolysis due to PAI1 deficiency", + "PAI1 deficiency" + ] + }, + { + "gard_id": "GARD:0004382", + "name": "Platyspondylic lethal skeletal dysplasia Torrance type", + "synonyms": [ + "PLSDT", + "Lethal short-limbed platyspondylic dwarfism Torrance type", + "Thanatophoric dysplasia torrance variant" + ] + }, + { + "gard_id": "GARD:0004386", + "name": "Pneumocystosis", + "synonyms": null + }, + { + "gard_id": "GARD:0004387", + "name": "Podder-Tolmie syndrome", + "synonyms": [ + "Meningoencephalocele, arthrogryposis and hypoplastic thumbs" + ] + }, + { + "gard_id": "GARD:0004391", + "name": "Kindler syndrome", + "synonyms": [ + "Poikiloderma, hereditary acrokeratotic", + "Bullous acrokeratotic poikiloderma of kindler and weary", + "Poikiloderma, congenital, with bullae, weary type", + "Congenital bullous poikiloderma", + "Poikiloderma of Kindler" + ] + }, + { + "gard_id": "GARD:0004392", + "name": "Rothmund-Thomson syndrome", + "synonyms": [ + "Poikiloderma of Rothmund-Thomson", + "Poikiloderma atrophicans and cataract", + "Poikiloderma Congenitale", + "RTS" + ] + }, + { + "gard_id": "GARD:0004395", + "name": "Pointer syndrome", + "synonyms": [ + "Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties" + ] + }, + { + "gard_id": "GARD:0004410", + "name": "Polydactyly", + "synonyms": [ + "Extra digits", + "Supernumerary digits", + "Polydactylia", + "Hyperdactyly", + "Polydactylism", + "Non-syndromic polydactyly" + ] + }, + { + "gard_id": "GARD:0004412", + "name": "Orofaciodigital syndrome 6", + "synonyms": [ + "Joubert syndrome with orofaciodigital defect", + "OFD6", + "Oral-facial-digital syndrome type 6", + "Polydactyly - cleft lip/palate - psychomotor retardation", + "Váradi syndrome", + "Váradi-Papp syndrome", + "Polydactyly-cleft lip/palate-psychomotor retardation syndrome", + "Polydactyly cleft lip palate psychomotor retardation", + "Orofaciodigital syndrome type 6" + ] + }, + { + "gard_id": "GARD:0004413", + "name": "Polydactyly myopia syndrome", + "synonyms": [ + "PMS", + "Postaxial Polydactyly with progressive myopia", + "Czeizel Brooser syndrome", + "Postaxial polydactyly-progressive myopia syndrome" + ] + }, + { + "gard_id": "GARD:0004415", + "name": "Polydactyly postaxial dental and vertebral", + "synonyms": null + }, + { + "gard_id": "GARD:0004417", + "name": "Preaxial polydactyly type 1", + "synonyms": [ + "Thumb polydactyly", + "Polydactyly preaxial 1", + "Preaxial polydactyly 1", + "Preaxial polydactyly type 1", + "Polydactyly of a biphalangeal thumb", + "PPD1" + ] + }, + { + "gard_id": "GARD:0004418", + "name": "Polydactyly syndrome middle ray duplication", + "synonyms": null + }, + { + "gard_id": "GARD:0004421", + "name": "Catecholaminergic polymorphic ventricular tachycardia", + "synonyms": [ + "Familial polymorphic ventricular tachycardia", + "Catecholamine-induced polymorphic ventricular tachycardia", + "CPVT", + "Syncopal paroxysmal tachycardia", + "Polymorphic catecholergic ventricular tachycardia", + "Stress-induced polymorphic ventricular tachycardia", + "Bidirectional tachycardia induced by catecholamine", + "Double tachycardia induced by catecholamines", + "Malignant paroxysmal ventricular tachycardia", + "Multifocal ventricular premature beats" + ] + }, + { + "gard_id": "GARD:0004424", + "name": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome", + "synonyms": [ + "Lundberg syndrome", + "Polyneuropathy - intellectual deficit - acromicria - premature menopause" + ] + }, + { + "gard_id": "GARD:0004427", + "name": "Cronkhite-Canada disease", + "synonyms": [ + "Polyposis skin pigmentation alopecia fingernail changes" + ] + }, + { + "gard_id": "GARD:0004428", + "name": "Polysyndactyly cardiac malformation", + "synonyms": null + }, + { + "gard_id": "GARD:0004434", + "name": "Syndactyly type 4", + "synonyms": [ + "Polysyndactyly type Haas", + "Polysyndactyly, Haas type" + ] + }, + { + "gard_id": "GARD:0004435", + "name": "Poncet-Spiegler's cylindroma", + "synonyms": [ + "Poncet Spiegler cylindroma" + ] + }, + { + "gard_id": "GARD:0004436", + "name": "Popliteal pterygium syndrome, Bartsocas-Papas type", + "synonyms": [ + "Bartsocas Papas syndrome", + "BPS", + "Pterygium popliteal lethal type", + "Popliteal pterygium syndrome lethal type", + "Multiple pterygium syndrome, Aslan type" + ] + }, + { + "gard_id": "GARD:0004437", + "name": "Porencephaly cerebellar hypoplasia internal malformations", + "synonyms": [ + "Bonnemann Meinecke syndrome" + ] + }, + { + "gard_id": "GARD:0004438", + "name": "Porokeratosis of Mibelli", + "synonyms": null + }, + { + "gard_id": "GARD:0004439", + "name": "Punctate palmoplantar keratoderma type 2", + "synonyms": [ + "Keratoderma palmoplantar, punctate type 2", + "Type 2 punctate PPK", + "PPKP2", + "PPPP", + "Punctate palmoplantar hyperkeratosis type 2" + ] + }, + { + "gard_id": "GARD:0004445", + "name": "Aminolevulinate dehydratase deficiency porphyria", + "synonyms": [ + "5-Aminolevulinic acid dehydratase deficiency porphyria", + "ALA dehydratase deficiency pophyria" + ] + }, + { + "gard_id": "GARD:0004446", + "name": "Congenital erythropoietic porphyria", + "synonyms": [ + "Porphyria, congenital erythropoietic", + "CEP", + "Günther disease", + "Uroporphyrinogen III synthase, deficiency of", + "UROS deficiency", + "Congenital porphyria" + ] + }, + { + "gard_id": "GARD:0004453", + "name": "Positive rheumatoid factor polyarthritis", + "synonyms": null + }, + { + "gard_id": "GARD:0004454", + "name": "Post Polio syndrome", + "synonyms": [ + "Post-poliomyelitic syndrome", + "Postpoliomyelitis syndrome", + "Post-polio muscular atrophy", + "Post-polio sequelae", + "Polio late effects", + "Postpolio syndrome" + ] + }, + { + "gard_id": "GARD:0004457", + "name": "Posterior uveitis", + "synonyms": null + }, + { + "gard_id": "GARD:0004459", + "name": "Potassium aggravated myotonia", + "synonyms": [ + "Myotonia fluctuans", + "Myotonia permanens", + "Myotonia congenita, atypical", + "Myotonia congenita, acetazolamide-responsive" + ] + }, + { + "gard_id": "GARD:0004462", + "name": "Potter sequence", + "synonyms": [ + "Potter syndrome", + "Oligohydramnios sequence" + ] + }, + { + "gard_id": "GARD:0004465", + "name": "PHAVER syndrome", + "synonyms": [ + "Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects" + ] + }, + { + "gard_id": "GARD:0004470", + "name": "Preaxial deficiency, postaxial polydactyly and hypospadias", + "synonyms": [ + "Guttmacher syndrome", + "Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" + ] + }, + { + "gard_id": "GARD:0004474", + "name": "Precocious puberty, gonadotropin-dependent", + "synonyms": null + }, + { + "gard_id": "GARD:0004475", + "name": "Testotoxicosis", + "synonyms": [ + "Precocious puberty, male limited", + "Sexual precocity, familial, gonadotropin-independent", + "Pubertas Praecox", + "Familial Testotoxicosis (subtype)" + ] + }, + { + "gard_id": "GARD:0004477", + "name": "Prekallikrein deficiency, congenital", + "synonyms": null + }, + { + "gard_id": "GARD:0004478", + "name": "Premature aging Okamoto type", + "synonyms": [ + "Premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay" + ] + }, + { + "gard_id": "GARD:0004480", + "name": "FMR1-related primary ovarian insufficiency", + "synonyms": [ + "Idiopathic familial premature ovarian failure", + "Familial premature ovarian failure", + "Premature ovarian failure 1", + "FMR1-related premature ovarian failure", + "Fragile X-associated primary ovarian insufficiency" + ] + }, + { + "gard_id": "GARD:0004482", + "name": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome", + "synonyms": [ + "PRS", + "MRXS2", + "Mental retardation, X-linked, syndromic 2", + "Prieto syndrome", + "Prieto-Badia-Mulas syndrome" + ] + }, + { + "gard_id": "GARD:0004483", + "name": "Griscelli syndrome type 2", + "synonyms": [ + "GS2", + "Griscelli syndrome with hemophagocytic syndrome", + "Partial albinism and immunodeficiency syndrome", + "PAID syndrome", + "Griscelli-Pruniéras syndrome type 2", + "Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" + ] + }, + { + "gard_id": "GARD:0004484", + "name": "Primary ciliary dyskinesia", + "synonyms": [ + "Ciliary dyskinesia primary", + "Polynesian bronchiectasis", + "Immotile cilia syndrome", + "ICS" + ] + }, + { + "gard_id": "GARD:0004485", + "name": "Juvenile primary lateral sclerosis", + "synonyms": [ + "JPLS", + "Primary lateral sclerosis, juvenile", + "PLS juvenile" + ] + }, + { + "gard_id": "GARD:0004487", + "name": "Primary tubular proximal acidosis", + "synonyms": null + }, + { + "gard_id": "GARD:0004488", + "name": "Primrose syndrome", + "synonyms": [ + "Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes", + "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome" + ] + }, + { + "gard_id": "GARD:0004494", + "name": "Progeroid short stature with pigmented nevi", + "synonyms": [ + "Mulvihill-Smith syndrome" + ] + }, + { + "gard_id": "GARD:0004497", + "name": "Progeroid syndrome Petty type", + "synonyms": [ + "Progeroid syndrome congenital Petty type", + "Petty Laxova Wiedemann syndrome" + ] + }, + { + "gard_id": "GARD:0004500", + "name": "Acromelanosis", + "synonyms": [ + "Progressive acromelanosis" + ] + }, + { + "gard_id": "GARD:0004503", + "name": "Chronic progressive external ophthalmoplegia", + "synonyms": [ + "Progressive external ophthalmoplegia", + "CPEO" + ] + }, + { + "gard_id": "GARD:0004504", + "name": "Deafness, X-linked 2", + "synonyms": [ + "DFNX2", + "Deafness conductive with stapes fixation", + "Deafness 3 conductive with stapes fixation", + "DFN3", + "Perilymphatic Gusher-deafness syndrome", + "Deafness mixed with perilymphatic gusher", + "Nance deafness", + "Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear", + "Dfn 3 nonsyndromic hearing loss and deafness", + "Gusher syndrome" + ] + }, + { + "gard_id": "GARD:0004505", + "name": "Progressive kinking of the hair, acquired", + "synonyms": null + }, + { + "gard_id": "GARD:0004507", + "name": "Progressive supranuclear palsy atypical", + "synonyms": [ + "Atypical PSP" + ] + }, + { + "gard_id": "GARD:0004508", + "name": "Prolactinoma", + "synonyms": [ + "Forbes-Albright syndrome (formerly)", + "Prolactin-Producing Pituitary Gland Adenoma", + "Lactotroph adenoma", + "Pituitary lactotrophic adenoma", + "PRL-secreting pituitary adenoma", + "PRLoma", + "Prolactin-secreting pituitary adenoma" + ] + }, + { + "gard_id": "GARD:0004509", + "name": "Proliferating trichilemmal cyst", + "synonyms": [ + "Proliferating pilar cyst" + ] + }, + { + "gard_id": "GARD:0004513", + "name": "Properdin deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0004520", + "name": "Familial prostate cancer", + "synonyms": [ + "Hereditary prostate cancer", + "Prostate cancer, familial", + "Prostate cancer, hereditary" + ] + }, + { + "gard_id": "GARD:0004524", + "name": "Protein S deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0004525", + "name": "Proteus like syndrome mental retardation eye defect", + "synonyms": null + }, + { + "gard_id": "GARD:0004527", + "name": "Autosomal erythropoietic protoporphyria", + "synonyms": [ + "Erythrohepatic protoporphyria", + "EPP", + "Heme synthetase deficiency", + "Ferrochelatase deficiency" + ] + }, + { + "gard_id": "GARD:0004528", + "name": "Proud syndrome", + "synonyms": [ + "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum", + "Corpus callosum, agenesis of, with abnormal genitalia", + "ACC with abnormal genitalia", + "Proud Levine Carpenter syndrome" + ] + }, + { + "gard_id": "GARD:0004531", + "name": "Proximal spinal muscular atrophy", + "synonyms": [ + "SMA" + ] + }, + { + "gard_id": "GARD:0004532", + "name": "Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA", + "synonyms": [ + "Proximal tubulopathy, diabetes mellitus and cerebellar ataxia" + ] + }, + { + "gard_id": "GARD:0004536", + "name": "Pseudopelade of Brocq", + "synonyms": [ + "Pseudo pelade of Brocq", + "Brocq pseudopelade", + "Pseudo-pelade of Brocq" + ] + }, + { + "gard_id": "GARD:0004538", + "name": "Pseudo-Turner syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004539", + "name": "D-bifunctional protein deficiency", + "synonyms": [ + "DBP deficiency", + "Peroxisomal bifunctional enzyme deficiency", + "PBFE deficiency", + "17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY", + "Bifunctional enzyme deficiency" + ] + }, + { + "gard_id": "GARD:0004540", + "name": "Pseudoachondroplasia", + "synonyms": [ + "Pseudoachondroplastic dysplasia", + "PSACH", + "Pseudoachondroplastic spondyloepiphyseal dysplasia", + "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome", + "Spondyloepiphyseal dysplasia, pseudoachondroplastic" + ] + }, + { + "gard_id": "GARD:0004542", + "name": "Pseudoachondroplastic dysplasia 2", + "synonyms": [ + "Recessive pseudoachondroplasia", + "Spondyloepiphyseal dysplasia pseudoachondroplastic 2" + ] + }, + { + "gard_id": "GARD:0004543", + "name": "Pseudoneonatal adrenoleukodystrophy", + "synonyms": [ + "Peroxisomal Acyl-CoA oxidase deficiency", + "Straight-chain Acyl-CoA oxidase deficiency", + "Pseudo-neonatal adrenoleukodystrophy", + "Pseudoadrenoleukodystrophy" + ] + }, + { + "gard_id": "GARD:0004544", + "name": "Pseudoaminopterin syndrome", + "synonyms": [ + "Aminopterin syndrome sine aminopterin", + "ASSA" + ] + }, + { + "gard_id": "GARD:0004547", + "name": "Pseudohermaphrodism anorectal anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0004550", + "name": "Male pseudohermaphroditism intellectual disability syndrome, Verloes type", + "synonyms": [ + "Verloes syndrome", + "Disorder of sex development intellectual disability", + "Verloes-Gillerot-Fryns syndrome", + "Verloes Gillerot Fryns syndrome" + ] + }, + { + "gard_id": "GARD:0004552", + "name": "Autosomal recessive pseudohypoaldosteronism type 1", + "synonyms": [ + "Pseudohypoaldosteronism type 1 autosomal recessive", + "Pseudohypoaldosteronism type 1, recessive", + "Generalized pseudohypoaldosteronism type 1", + "Generalized PHA1", + "PHA1B" + ] + }, + { + "gard_id": "GARD:0004553", + "name": "Pseudohypoaldosteronism type 2", + "synonyms": [ + "PHA2", + "Hyperpotassemia and hypertension familial", + "Gordon hyperkalemia-hypertension syndrome", + "Chloride shunt syndrome" + ] + }, + { + "gard_id": "GARD:0004559", + "name": "Pseudopapilledema blepharophimosis hand anomalies", + "synonyms": [ + "Pseudopapilledema, ocular hyteorism, blepharophimosis and hand anomalies", + "Acro-oto-ocular syndrome" + ] + }, + { + "gard_id": "GARD:0004561", + "name": "Idiopathic intracranial hypertension", + "synonyms": [ + "Intracranial hypertension, idiopathic", + "Pseudotumor cerebri", + "IIH" + ] + }, + { + "gard_id": "GARD:0004568", + "name": "Pterygium colli mental retardation digital anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0004569", + "name": "Pterygium of the conjunctiva and cornea", + "synonyms": null + }, + { + "gard_id": "GARD:0004570", + "name": "Antecubital pterygium", + "synonyms": [ + "Pterygium antecubital" + ] + }, + { + "gard_id": "GARD:0004573", + "name": "Multiple pterygium syndrome X-linked", + "synonyms": [ + "Pterygium syndrome multiple X-linked" + ] + }, + { + "gard_id": "GARD:0004577", + "name": "Ptosis strabismus ectopic pupils", + "synonyms": null + }, + { + "gard_id": "GARD:0004582", + "name": "Congenital pulmonary alveolar proteinosis", + "synonyms": [ + "Pulmonary alveolar proteinosis, congenital", + "Congenital PAP" + ] + }, + { + "gard_id": "GARD:0004584", + "name": "Pulmonary arterio-veinous fistula", + "synonyms": [ + "Pulmonary arteriovenous fistula", + "Pulmonar arteriovenous aneurysm" + ] + }, + { + "gard_id": "GARD:0004585", + "name": "Pulmonary artery agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0004586", + "name": "Pulmonary artery coming from the aorta", + "synonyms": null + }, + { + "gard_id": "GARD:0004587", + "name": "Pulmonary artery familial dilatation", + "synonyms": null + }, + { + "gard_id": "GARD:0004588", + "name": "Pulmonary atresia with ventricular septal defect", + "synonyms": null + }, + { + "gard_id": "GARD:0004589", + "name": "Congenital pulmonary artery branch stenosis", + "synonyms": null + }, + { + "gard_id": "GARD:0004592", + "name": "Pulmonary hypoplasia, familial primary", + "synonyms": null + }, + { + "gard_id": "GARD:0004593", + "name": "Pulmonary sequestration", + "synonyms": null + }, + { + "gard_id": "GARD:0004594", + "name": "Pulmonary supravalvular stenosis", + "synonyms": null + }, + { + "gard_id": "GARD:0004595", + "name": "Pulmonary surfactant protein B, deficiency of", + "synonyms": null + }, + { + "gard_id": "GARD:0004596", + "name": "Pulmonary valve stenosis", + "synonyms": [ + "Valvular pulmonary stenosis", + "Heart valve pulmonary stenosis", + "Valvar pulmonary stenosis", + "Valvate pulmonary stenosis" + ] + }, + { + "gard_id": "GARD:0004597", + "name": "Pulmonary valves agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0004598", + "name": "Pulmonary vein stenosis", + "synonyms": [ + "Pulmonary veins stenosis" + ] + }, + { + "gard_id": "GARD:0004599", + "name": "Pulmonary venous return anomaly", + "synonyms": [ + "Anomalous pulmonary venous return", + "APVR", + "Total anomalous pulmonary venous return", + "TAPVR", + "TAPVR1", + "Scimitar anomaly", + "Scimitar syndrome" + ] + }, + { + "gard_id": "GARD:0004600", + "name": "Pulmonary atresia with intact ventricular septum", + "synonyms": null + }, + { + "gard_id": "GARD:0004606", + "name": "Purine nucleoside phosphorylase deficiency", + "synonyms": [ + "PNP deficiency" + ] + }, + { + "gard_id": "GARD:0004607", + "name": "Thrombotic thrombocytopenic purpura, acquired", + "synonyms": [ + "Purpura, thrombotic thrombocytopenic", + "TTP", + "Moschowitz syndrome", + "Idiopathic thrombotic thrombocytopenic purpura" + ] + }, + { + "gard_id": "GARD:0004610", + "name": "Pyknoachondrogenesis", + "synonyms": [ + "Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" + ] + }, + { + "gard_id": "GARD:0004611", + "name": "Pycnodysostosis", + "synonyms": [ + "Pyknodysostosis", + "PKND", + "PYCD" + ] + }, + { + "gard_id": "GARD:0004612", + "name": "Pyle disease", + "synonyms": [ + "Metaphyseal dysplasia", + "Pyle's disease", + "Metaphyseal dysplasia Pyle type" + ] + }, + { + "gard_id": "GARD:0004614", + "name": "Pyomyositis", + "synonyms": null + }, + { + "gard_id": "GARD:0004616", + "name": "Pyridoxine deficiency", + "synonyms": [ + "Vitamin B6 deficiency", + "Vitamin deficiency, B6" + ] + }, + { + "gard_id": "GARD:0004619", + "name": "Pyropoikilocytosis hereditary", + "synonyms": [ + "Hereditary Pyropoikilocytosis" + ] + }, + { + "gard_id": "GARD:0004620", + "name": "Pyruvate decarboxylase deficiency", + "synonyms": [ + "Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency", + "Ataxia with lactic acidosis 1" + ] + }, + { + "gard_id": "GARD:0004621", + "name": "Pyruvate kinase deficiency, liver type", + "synonyms": null + }, + { + "gard_id": "GARD:0004624", + "name": "Radial defect Robin sequence", + "synonyms": [ + "Bruce Winship syndrome", + "Bilateral radial defects club foot deformity micrognathia and cleft palate" + ] + }, + { + "gard_id": "GARD:0004627", + "name": "Radial ray hypoplasia choanal atresia", + "synonyms": [ + "Radial ray hypoplasia and choanal atresia", + "Goldblatt-Viljoen syndrome" + ] + }, + { + "gard_id": "GARD:0004628", + "name": "Oculofaciocardiodental syndrome", + "synonyms": [ + "MCOPS2", + "Microphthalmia syndromic 2", + "OFCD syndrome", + "Microphthalmia cataracts radiculomegaly and septal heart defects", + "Syndromic microphthalmia type 2", + "MAA2 (formerly)", + "ANOP2 (formerly)" + ] + }, + { + "gard_id": "GARD:0004630", + "name": "Radio-ulnar synostosis type 1", + "synonyms": [ + "Proximal, smooth fusion of 2-6 cm between the radius and ulna and absent head of the radius" + ] + }, + { + "gard_id": "GARD:0004633", + "name": "Radius absent anogenital anomalies", + "synonyms": [ + "Radial aplasia, X-linked" + ] + }, + { + "gard_id": "GARD:0004634", + "name": "SLC35C1-CDG (CDG-IIc)", + "synonyms": [ + "CDG 2C", + "CDG2C", + "Leukocyte adhesion deficiency type 2", + "LAD2", + "Rambam-Hasharon syndrome", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc", + "Congenital disorder of glycosylation type IIC" + ] + }, + { + "gard_id": "GARD:0004635", + "name": "Vascular hyalinosis", + "synonyms": [ + "Digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a" + ] + }, + { + "gard_id": "GARD:0004636", + "name": "Ramos Arroyo Clark syndrome", + "synonyms": [ + "Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation", + "Ramos-Arroyo syndrome", + "Corneal anesthesia-deafness-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0004637", + "name": "Rapadilino syndrome", + "synonyms": [ + "Radial and patellar aplasia", + "Radial and patellar hypoplasia", + "Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate" + ] + }, + { + "gard_id": "GARD:0004638", + "name": "Rasmussen Johnsen Thomsen syndrome", + "synonyms": [ + "Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance", + "Rasmussen syndrome" + ] + }, + { + "gard_id": "GARD:0004641", + "name": "Ichthyosis, mental retardation, dwarfism and renal impairment", + "synonyms": [ + "Ichthyosis intellectual deficit dwarfism renal impairment" + ] + }, + { + "gard_id": "GARD:0004644", + "name": "Reardon Wilson Cavanagh syndrome", + "synonyms": [ + "Familial ataxia, deafness, and developmental delay", + "Ataxia, hearing loss, and mental retardation", + "Ataxia-deafness-retardation syndrome", + "ADR syndrome" + ] + }, + { + "gard_id": "GARD:0004645", + "name": "Recurrent peripheral facial palsy", + "synonyms": null + }, + { + "gard_id": "GARD:0004647", + "name": "Complex regional pain syndrome", + "synonyms": [ + "CRPS", + "Reflex sympathetic dystrophy" + ] + }, + { + "gard_id": "GARD:0004648", + "name": "Refsum disease, infantile form", + "synonyms": [ + "Infantile Refsum disease", + "IRD", + "Infantile form of phytanic acid storage disease" + ] + }, + { + "gard_id": "GARD:0004655", + "name": "Renal caliceal diverticuli deafness", + "synonyms": null + }, + { + "gard_id": "GARD:0004658", + "name": "Renal dysplasia diffuse cystic", + "synonyms": [ + "Diffuse cystic renal dysplasia" + ] + }, + { + "gard_id": "GARD:0004664", + "name": "Renal genital middle ear anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0004665", + "name": "Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia", + "synonyms": [ + "Meckel syndrome 7", + "NPHP3-related Meckel-like syndrome", + "Goldston syndrome", + "Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome", + "Meckel syndrome type 7", + "Meckel-like syndrome type 1" + ] + }, + { + "gard_id": "GARD:0004666", + "name": "Renal tubular acidosis with deafness", + "synonyms": [ + "Renal tubular acidosis, distal, with progressive nerve deafness", + "Autosomal recessive distal renal tubular acidosis with deafness", + "AR dRTA with hearing loss", + "AR dRTA wth deafness", + "Autosomal recessive distal renal tubular acidosis with hearing loss", + "Renal tubular acidosis type 1b", + "Renal tubular acidosis progressive nerve deafness", + "RTA with progressive nerve deafness", + "Renal tubular acidosis with progressive nerve deafness", + "Renal tubular acidosis, autosomal recessive, with progressive nerve deafness" + ] + }, + { + "gard_id": "GARD:0004667", + "name": "Distal renal tubular acidosis", + "synonyms": null + }, + { + "gard_id": "GARD:0004668", + "name": "Autosomal dominant distal renal tubular acidosis", + "synonyms": [ + "RTA, classic type", + "RTA, gradient type", + "Renal tubular acidosis 1", + "RTA, distal type, autosomal dominant", + "Autosomal dominant SLC4A1-associated distal renal tubular acidosis" + ] + }, + { + "gard_id": "GARD:0004669", + "name": "Autosomal recessive distal renal tubular acidosis", + "synonyms": [ + "RTADR", + "RTA, distal, autosomal recessive", + "Renal tubular acidosis, autosomal recessive with preserved hearing", + "RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED", + "AR dRTA", + "Autosomal recessive distal RTA" + ] + }, + { + "gard_id": "GARD:0004670", + "name": "Renal tubular acidosis, distal, type 3", + "synonyms": [ + "Bicarbonate-wasting RTA", + "RTA, bicarbonate-wasting type", + "RTA, dislocation type" + ] + }, + { + "gard_id": "GARD:0004672", + "name": "Renier Gabreels Jasper syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004680", + "name": "Retinal dysplasia X-linked", + "synonyms": null + }, + { + "gard_id": "GARD:0004683", + "name": "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome", + "synonyms": [ + "Insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation (formerly)", + "Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome", + "Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" + ] + }, + { + "gard_id": "GARD:0004685", + "name": "Retinohepatoendocrinologic syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004687", + "name": "Retinopathy aplastic anemia neurological abnormalities", + "synonyms": null + }, + { + "gard_id": "GARD:0004688", + "name": "Retinopathy pigmentary mental retardation", + "synonyms": [ + "Mirhosseini-Holmes-Walton syndrome", + "Retinal pigmentary degeneration, microcephaly, and severe mental retardation", + "Pigmentary retinopathy-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0004690", + "name": "Juvenile retinoschisis", + "synonyms": [ + "X-linked juvenile retinoschisis", + "XJR", + "X-linked retinoschisis", + "Retinoschisis X-linked", + "Retinoschisis juvenile X chromosome-linked" + ] + }, + { + "gard_id": "GARD:0004694", + "name": "Atypical Rett syndrome", + "synonyms": [ + "Rett like syndrome", + "Rett syndrome variant" + ] + }, + { + "gard_id": "GARD:0004695", + "name": "Revesz syndrome", + "synonyms": [ + "Exudative retinopathy with bone marrow failure" + ] + }, + { + "gard_id": "GARD:0004697", + "name": "Reynolds syndrome", + "synonyms": [ + "Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia" + ] + }, + { + "gard_id": "GARD:0004701", + "name": "Rhabdomyosarcoma alveolar", + "synonyms": [ + "Alveolar rhabdomyosarcoma", + "ARMS" + ] + }, + { + "gard_id": "GARD:0004702", + "name": "Rhabdomyosarcoma embryonal", + "synonyms": [ + "Embryonal rhabdomyosarcoma", + "ERMS", + "Botryoid rhabdomyosarcoma (type of ERMS)", + "Spindle cell rhabdomyosarcomas (type of ERMS)" + ] + }, + { + "gard_id": "GARD:0004703", + "name": "Rhizomelic dysplasia Patterson Lowry type", + "synonyms": [ + "Patterson-Lowry rhizomelic dysplasia", + "Patterson Lowry syndrome" + ] + }, + { + "gard_id": "GARD:0004704", + "name": "Rhizomelic pseudopolyarthritis", + "synonyms": null + }, + { + "gard_id": "GARD:0004705", + "name": "Rhizomelic syndrome", + "synonyms": [ + "Familial rhizomelic dysplasia", + "Rhizomelic dysplasia, familial" + ] + }, + { + "gard_id": "GARD:0004709", + "name": "Richieri Costa Da Silva syndrome", + "synonyms": [ + "Myotonia-intellectual disability-skeletal anomalies syndrome", + "Richieri Costa-da Silva syndrome" + ] + }, + { + "gard_id": "GARD:0004712", + "name": "Richieri-Costa Guion-Almeida Cohen syndrome", + "synonyms": [ + "Overgrowth - craniosynostosis - arthrogryposis" + ] + }, + { + "gard_id": "GARD:0004718", + "name": "Richieri Costa Pereira syndrome", + "synonyms": [ + "Robin sequence with cleft mandible and limb anomalies", + "Richieri-Costa and Pereira form of acrofacial dysostosis", + "Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" + ] + }, + { + "gard_id": "GARD:0004720", + "name": "Right atrium familial dilatation", + "synonyms": [ + "Idiopathic familial right atrial dilatation" + ] + }, + { + "gard_id": "GARD:0004721", + "name": "Right ventricle hypoplasia", + "synonyms": [ + "Hypoplasia of the right ventricle", + "Right ventricular hypoplasia", + "Isolated right ventricular hypoplasia", + "Isolated hypoplasia of the right ventricle" + ] + }, + { + "gard_id": "GARD:0004722", + "name": "Nablus mask-like facial syndrome", + "synonyms": [ + "8q22.1 microdeletion syndrome" + ] + }, + { + "gard_id": "GARD:0004723", + "name": "Rigid spine syndrome", + "synonyms": [ + "RSS", + "Rigid spine muscular dystrophy-1", + "RSMD1", + "Muscular dystrophy, congenital, merosin positive with early spine rigidity", + "MDRS1", + "Minicore myopathy, severe classic form", + "Multicore myopathy, severe classic form", + "Multiminicore disease, severe classic form", + "Desmin-related myopathies with Mallory bodies" + ] + }, + { + "gard_id": "GARD:0004724", + "name": "Ring chromosome 17", + "synonyms": [ + "Chromosome 17 ring", + "Ring 17", + "R17" + ] + }, + { + "gard_id": "GARD:0004725", + "name": "Ringed hair disease", + "synonyms": [ + "Pilli Annulati" + ] + }, + { + "gard_id": "GARD:0004729", + "name": "Robin sequence and oligodactyly", + "synonyms": [ + "Pierre Robin syndrome and oligodactyly" + ] + }, + { + "gard_id": "GARD:0004732", + "name": "Autosomal dominant deafness-onychodystrophy syndrome", + "synonyms": [ + "Deafness and onychodystrophy, dominant form", + "Familial ectodermal dysplasia with sensori-neural deafness and other anomalies", + "DDOD", + "Autosomal dominant deafness-onychodystrophy syndrome", + "Robinson Miller Bensimon syndrome", + "Robinson-Miller-Bensimon syndrome", + "DDOD syndrome" + ] + }, + { + "gard_id": "GARD:0004733", + "name": "Roch-Leri mesosomatous lipomatosis", + "synonyms": [ + "Roch-Leri syndrome" + ] + }, + { + "gard_id": "GARD:0004737", + "name": "Rokitansky sequence", + "synonyms": null + }, + { + "gard_id": "GARD:0004738", + "name": "Rombo syndrome", + "synonyms": [ + "Vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" + ] + }, + { + "gard_id": "GARD:0004739", + "name": "Rommen Mueller Sybert syndrome", + "synonyms": [ + "Short stature heart defect and craniofacial anomalies" + ] + }, + { + "gard_id": "GARD:0004740", + "name": "Ulna metaphyseal dysplasia syndrome", + "synonyms": [ + "Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna", + "Metaphyseal chondroplasia Rosenberg type", + "Rosenberg Lohr syndrome" + ] + }, + { + "gard_id": "GARD:0004741", + "name": "Roussy Levy syndrome", + "synonyms": [ + "Roussy Levy hereditary areflexic dystasia", + "Roussy-Levy disease", + "Hereditary areflexic dystasia", + "Charcot-Marie-Tooth Disease (Variant)", + "Charcot-Marie-Tooth-Roussy-Levy Disease", + "Hereditary Motor Sensory Neuropathy I", + "HMSN I" + ] + }, + { + "gard_id": "GARD:0004742", + "name": "Rubella", + "synonyms": [ + "German measles", + "Three day measles" + ] + }, + { + "gard_id": "GARD:0004744", + "name": "Congenital rubella", + "synonyms": [ + "Rubella congenital", + "Congenital rubella syndrome", + "CRS" + ] + }, + { + "gard_id": "GARD:0004745", + "name": "Rubinstein Taybi like syndrome", + "synonyms": [ + "Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses" + ] + }, + { + "gard_id": "GARD:0004747", + "name": "Ruvalcaba Churesigaew Myhre syndrome", + "synonyms": [ + "Onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis" + ] + }, + { + "gard_id": "GARD:0004748", + "name": "Ruvalcaba syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004752", + "name": "Sacral meningocele conotruncal heart defects", + "synonyms": [ + "Sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck", + "Kousseff syndrome" + ] + }, + { + "gard_id": "GARD:0004754", + "name": "Salla disease", + "synonyms": [ + "Sialuria, Finnish type" + ] + }, + { + "gard_id": "GARD:0004766", + "name": "Childhood-Onset Schizophrenia", + "synonyms": [ + "Childhood schizophrenia" + ] + }, + { + "gard_id": "GARD:0004767", + "name": "Schwannoma", + "synonyms": [ + "Neurilemoma", + "Neurilemmoma", + "Neurolemmoma", + "Peripheral fibroblastoma", + "Benign schwannoma" + ] + }, + { + "gard_id": "GARD:0004768", + "name": "Schwannomatosis", + "synonyms": [ + "Neurilemmomatosis congenital cutaneous", + "Congenital cutaneous neurilemmomatosis", + "Neurofibromatosis type 3", + "NF3" + ] + }, + { + "gard_id": "GARD:0004769", + "name": "Ullrich congenital muscular dystrophy", + "synonyms": [ + "Ullrich disease", + "Ullrich scleroatonic muscular dystrophy", + "UCMD", + "Late onset scleroatonic familial myopathy (subtype)", + "Scleroatonic muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0004771", + "name": "Sclerosteosis", + "synonyms": [ + "SOST", + "Cortical hyperostosis with syndactyly" + ] + }, + { + "gard_id": "GARD:0004774", + "name": "SCOT deficiency", + "synonyms": [ + "Succinyl-CoA:3-oxoacid CoA transferase deficiency", + "Ketoacidosis due to SCOT deficiency", + "Succinyl-CoA acetoacetate transferase deficiency", + "3-oxoacid CoA transferase deficiency" + ] + }, + { + "gard_id": "GARD:0004775", + "name": "Aarskog syndrome", + "synonyms": [ + "Aarskog Scott syndrome", + "Faciodigitogenital syndrome", + "Faciogenital dysplasia", + "Aarskog disease", + "FGDY", + "Scott Aarskog syndrome" + ] + }, + { + "gard_id": "GARD:0004776", + "name": "Scott Bryant Graham syndrome", + "synonyms": [ + "Craniodigital syndrome with mental retardation", + "Craniodigital syndrome-mental retardation, Scott type", + "Scott craniodigital syndrome with mental retardation", + "Craniodigital syndrome-intellectual disability syndrome", + "Scott craniodigital syndrome", + "Scott-Bryant-Graham syndrome", + "Craniodigital-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0004777", + "name": "Scott syndrome", + "synonyms": [ + "Platelet factor X receptor deficiency" + ] + }, + { + "gard_id": "GARD:0004778", + "name": "Seaver Cassidy syndrome", + "synonyms": [ + "Hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies", + "Facial dysmorphism shawl scrotum joint laxity" + ] + }, + { + "gard_id": "GARD:0004781", + "name": "Seckel like syndrome Majoor-Krakauer type", + "synonyms": [ + "Bird-headed dwarfism microcephaly micrognathia" + ] + }, + { + "gard_id": "GARD:0004791", + "name": "Selig Benacerraf Greene syndrome", + "synonyms": [ + "Renal dysplasia, megalocystis, and sirenomelia" + ] + }, + { + "gard_id": "GARD:0004792", + "name": "Testicular seminoma", + "synonyms": [ + "Testicular seminomatous germ cell tumor", + "Seminoma of testis", + "Seminomatous germ cell tumor of testis" + ] + }, + { + "gard_id": "GARD:0004801", + "name": "Seow Najjar syndrome", + "synonyms": [ + "Enamel hypoplasia, capsular cataracts, and ductal stenosis" + ] + }, + { + "gard_id": "GARD:0004805", + "name": "Seres-Santamaria Arimany Muniz syndrome", + "synonyms": [ + "Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" + ] + }, + { + "gard_id": "GARD:0004815", + "name": "Shapiro syndrome", + "synonyms": [ + "Shapiro's syndrome", + "Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum", + "Spontaneous periodic hypothermia syndrome", + "Spontaneous recurrent hypothermia syndrome", + "Spontaneous periodic hypothermia" + ] + }, + { + "gard_id": "GARD:0004818", + "name": "Shigellosis", + "synonyms": null + }, + { + "gard_id": "GARD:0004822", + "name": "Short-chain acyl-CoA dehydrogenase deficiency", + "synonyms": [ + "SCAD deficiency", + "ACADS deficiency", + "SCADH deficiency", + "Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency", + "Short-chain acyl-coenzyme A dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0004827", + "name": "Lethal short limb skeletal dysplasia Al Gazali type", + "synonyms": [ + "Lethal neonatal short limb dwarfism" + ] + }, + { + "gard_id": "GARD:0004832", + "name": "Short rib-polydactyly syndrome type 4", + "synonyms": [ + "SRPS type 4", + "Short rib-polydactyly syndrome type IV", + "Beemer Langer syndrome", + "Short rib-polydactyly syndrome Beemer type", + "Short rib polydactyly syndrome Beemer-Langer type" + ] + }, + { + "gard_id": "GARD:0004833", + "name": "Short rib-polydactyly syndrome, Majewski type", + "synonyms": [ + "SRPS type 2", + "Short rib-polydactyly syndrome type II", + "Majewski syndrome", + "Polydactyly with neonatal chondrodystrophy type 2", + "Short rib-polydactyly syndrome Majewski type", + "Short-rib thoracic dysplasia 6 with or without polydactyly", + "Short rib-polydactyly syndrome type 2" + ] + }, + { + "gard_id": "GARD:0004834", + "name": "Short rib-polydactyly syndrome type 1", + "synonyms": [ + "SRPS type 1", + "Polydactyly with neonatal chondrodystrophy type 1", + "Saldino-Noonan syndrome", + "Short rib-polydactyly syndrome Saldino-Noonan type" + ] + }, + { + "gard_id": "GARD:0004835", + "name": "Short rib-polydactyly syndrome type 3", + "synonyms": [ + "SRPS type 3", + "Short rib-polydactyly syndrome type III", + "Polydactyly with neonatal chondrodystrophy type III", + "Verma Naumoff syndrome", + "Short rib polydactyly syndrome Verma Naumoff type" + ] + }, + { + "gard_id": "GARD:0004838", + "name": "Short stature syndrome, Brussels type", + "synonyms": [ + "Familial short stature with facial dysmorphism and osteochondrodysplastic lesions", + "Mievis Verellen-Dumoulin syndrome" + ] + }, + { + "gard_id": "GARD:0004841", + "name": "Short stature deafness neutrophil dysfunction", + "synonyms": [ + "Thong Douglas Ferrante syndrome" + ] + }, + { + "gard_id": "GARD:0004856", + "name": "Short stature wormian bones dextrocardia", + "synonyms": [ + "Stratton Parker syndrome" + ] + }, + { + "gard_id": "GARD:0004860", + "name": "Shoulder girdle defect mental retardation familial", + "synonyms": [ + "Shoulder and girdle defects-familial intellectual disability syndrome", + "OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0004861", + "name": "Shprintzen-Goldberg craniosynostosis syndrome", + "synonyms": [ + "Craniosynostosis with arachnodactyly and abdominal hernias", + "Marfanoid disorder with craniosynostosis type 1", + "Marfanoid craniosynostosis syndrome", + "Shprintzen-Goldberg syndrome", + "Marfanoid-craniosynostosis syndrome", + "Shprintzen-Goldberg marfanoid syndrome" + ] + }, + { + "gard_id": "GARD:0004863", + "name": "Shwachman-Diamond syndrome", + "synonyms": [ + "SDS", + "Pancreatic insufficiency and bone marrow dysfunction", + "Shwachman-Bodian syndrome", + "Lipomatosis of pancreas, congenital", + "Congenital lipomatosis of pancreas" + ] + }, + { + "gard_id": "GARD:0004865", + "name": "Sialuria, French type", + "synonyms": [ + "Sialuria" + ] + }, + { + "gard_id": "GARD:0004867", + "name": "Siegler Brewer Carey syndrome", + "synonyms": [ + "Fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys" + ] + }, + { + "gard_id": "GARD:0004868", + "name": "Silengo Lerone Pelizza syndrome", + "synonyms": [ + "Microcephaly, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy and nystagmus" + ] + }, + { + "gard_id": "GARD:0004869", + "name": "Sillence syndrome", + "synonyms": [ + "Brachydactyly-distal symphalangism syndrome" + ] + }, + { + "gard_id": "GARD:0004870", + "name": "Russell-Silver syndrome", + "synonyms": [ + "Silver-Russell syndrome", + "Silver-Russell dwarfism", + "Russell Silver syndrome", + "Silver Russell syndrome" + ] + }, + { + "gard_id": "GARD:0004873", + "name": "Simosa cranio facial syndrome", + "synonyms": [ + "Simosa craniofacial syndrome" + ] + }, + { + "gard_id": "GARD:0004876", + "name": "Singh Chhaparwal Dhanda syndrome", + "synonyms": [ + "Syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae" + ] + }, + { + "gard_id": "GARD:0004877", + "name": "Single upper central incisor", + "synonyms": [ + "Solitary median maxillary central incisor", + "SMMCI", + "Fused incisors", + "Single central maxillary incisor", + "Solitary median maxillary central incisor syndrome", + "Incisors fused" + ] + }, + { + "gard_id": "GARD:0004878", + "name": "Single ventricular heart", + "synonyms": [ + "Single ventricle" + ] + }, + { + "gard_id": "GARD:0004879", + "name": "Progressive familial heart block type 2", + "synonyms": [ + "Heart block progressive familial type 2", + "PFHB2", + "PFHBII" + ] + }, + { + "gard_id": "GARD:0004880", + "name": "Sinus node disease and myopia", + "synonyms": null + }, + { + "gard_id": "GARD:0004881", + "name": "Multiple endocrine neoplasia type 2A", + "synonyms": [ + "Sipple syndrome", + "MEN 2A", + "MEN-2A syndrome", + "Pheochromocytoma and amyloid producing medullary thyroid carcinoma", + "PTC syndrome" + ] + }, + { + "gard_id": "GARD:0004883", + "name": "Situs inversus", + "synonyms": [ + "Situs inversus viscerum", + "SIV" + ] + }, + { + "gard_id": "GARD:0004885", + "name": "Sjogren-Larsson-like syndrome", + "synonyms": [ + "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" + ] + }, + { + "gard_id": "GARD:0004886", + "name": "Brachydactyly Mononen type", + "synonyms": [ + "Skeletal dysplasia brachydactyly", + "Mononen Karnes Senac syndrome", + "Thumbs and great toes short and abducted" + ] + }, + { + "gard_id": "GARD:0004889", + "name": "Skeletal dysplasia, San Diego type", + "synonyms": [ + "PLSD San Diego type" + ] + }, + { + "gard_id": "GARD:0004891", + "name": "Leukoencephalopathy-spondylometaphyseal dysplasia syndrome", + "synonyms": [ + "X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL)", + "H-SMD", + "Hypomyelination-spondylometaphyseal dysplasia syndrome", + "Leukoencephalopathy-metaphyseal chondrodysplasia syndrome" + ] + }, + { + "gard_id": "GARD:0004893", + "name": "Slavotinek Pike Mills Hurst syndrome", + "synonyms": [ + "Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities" + ] + }, + { + "gard_id": "GARD:0004898", + "name": "Soft tissue sarcoma", + "synonyms": [ + "Connective Tissue Sarcoma", + "Non-Rhabdomyosarcoma soft tissue sarcoma" + ] + }, + { + "gard_id": "GARD:0004899", + "name": "Sohval Soffer syndrome", + "synonyms": [ + "Congenital testicular deficiency" + ] + }, + { + "gard_id": "GARD:0004900", + "name": "Somatostatinoma", + "synonyms": [ + "Ampullary somatostatinoma", + "Somatomedin-secreting carcinoid", + "Carcinoid somatostatinoma", + "Malignant islet cell tumor", + "Somatostatin-secreting pancreatic neoplasm" + ] + }, + { + "gard_id": "GARD:0004905", + "name": "Sonoda syndrome", + "synonyms": [ + "Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development" + ] + }, + { + "gard_id": "GARD:0004908", + "name": "Congenital torticollis", + "synonyms": [ + "Congenital muscular torticollis", + "Torticollis, congenital" + ] + }, + { + "gard_id": "GARD:0004909", + "name": "Spastic angina with healthy coronary artery", + "synonyms": null + }, + { + "gard_id": "GARD:0004910", + "name": "Spastic ataxia Charlevoix-Saguenay type", + "synonyms": [ + "SACS", + "Charlevoix-Saguenay spastic ataxia", + "Autosomal recessive spastic ataxia of Charlevoix-Saguenay", + "ARSACS", + "Spastic ataxia of Charlevoix-Saguenay" + ] + }, + { + "gard_id": "GARD:0004911", + "name": "Spastic diplegia infantile type", + "synonyms": [ + "Hereditary spastic diplegia with mental retardation" + ] + }, + { + "gard_id": "GARD:0004912", + "name": "Spastic paraparesis", + "synonyms": null + }, + { + "gard_id": "GARD:0004914", + "name": "Infantile-onset ascending hereditary spastic paralysis", + "synonyms": [ + "IAHSP", + "Spastic paralysis, infantile onset ascending" + ] + }, + { + "gard_id": "GARD:0004915", + "name": "Spastic paraplegia-epilepsy-intellectual disability syndrome", + "synonyms": [ + "SPEMR" + ] + }, + { + "gard_id": "GARD:0004917", + "name": "Spastic paraplegia 5B", + "synonyms": [ + "SPG5B" + ] + }, + { + "gard_id": "GARD:0004918", + "name": "Spastic paraplegia with precocious puberty", + "synonyms": [ + "Familial spastic paraplegia, mental retardation, and precocious puberty", + "Precocious puberty with spastic paraplegia" + ] + }, + { + "gard_id": "GARD:0004919", + "name": "Spastic paraplegia 11", + "synonyms": [ + "SPG11", + "Hereditary spastic paraplegia mental impairment and thin corpus callosum", + "Autosomal recessive spastic paraplegia type 11", + "Hereditary spastic paraplegia 11", + "Nakamura Osame syndrome", + "Spastic paraplegia - intellectual deficit - thin corpus callosum" + ] + }, + { + "gard_id": "GARD:0004921", + "name": "Spastic paraplegia neuropathy poikiloderma", + "synonyms": [ + "Familial spastic paraplegia with neuropathy and poikiloderma" + ] + }, + { + "gard_id": "GARD:0004922", + "name": "Spastic paraplegia 18", + "synonyms": [ + "SPG18", + "Intellectual disability, motor dysfunction, and joint contractures", + "IDMDC" + ] + }, + { + "gard_id": "GARD:0004923", + "name": "Spastic paraplegia 2", + "synonyms": [ + "SPG2", + "SPPX2" + ] + }, + { + "gard_id": "GARD:0004924", + "name": "Spastic paraplegia 39", + "synonyms": [ + "SPG39", + "NTE related motor neuron disorder", + "NTEMND" + ] + }, + { + "gard_id": "GARD:0004925", + "name": "Spastic paraplegia 4", + "synonyms": [ + "SPG4", + "Autosomal dominant spastic paraplegia 4", + "Familial spastic paraplegia autosomal dominant 2", + "FSP2" + ] + }, + { + "gard_id": "GARD:0004926", + "name": "Spastic paraplegia 5A", + "synonyms": [ + "SPG5A", + "Autosomal recessive spastic paraplegia", + "Spastic paraplegia type 5A" + ] + }, + { + "gard_id": "GARD:0004927", + "name": "Spastic paraplegia 7", + "synonyms": [ + "SPG7", + "Hereditary spastic paraplegia Paraplegin type" + ] + }, + { + "gard_id": "GARD:0004928", + "name": "Spastic paraplegia 6", + "synonyms": [ + "SPG6", + "Familial spastic paraplegia autosomal dominant 3", + "FSP3" + ] + }, + { + "gard_id": "GARD:0004931", + "name": "Spastic paraplegia-glaucoma-intellectual disability syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0004932", + "name": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome", + "synonyms": [ + "Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss (formerly)", + "Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0004936", + "name": "Weill-Marchesani syndrome", + "synonyms": [ + "WM Syndrome", + "WMS", + "Spherophakia-brachymorphia syndrome", + "Mesodermal dysmorphodystrophy congenital" + ] + }, + { + "gard_id": "GARD:0004940", + "name": "Spina bifida hypospadias", + "synonyms": null + }, + { + "gard_id": "GARD:0004942", + "name": "Spinal atrophy ophthalmoplegia pyramidal syndrome", + "synonyms": [ + "Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms", + "Hamano Tsukamoto syndrome" + ] + }, + { + "gard_id": "GARD:0004945", + "name": "Spinal muscular atrophy type 2", + "synonyms": [ + "SMA2", + "Muscular atrophy, spinal, intermediate type", + "Muscular atrophy, spinal, infantile chronic form", + "Spinal muscular atrophy type II", + "SMA II", + "Dubowitz disease" + ] + }, + { + "gard_id": "GARD:0004947", + "name": "Spinal muscular atrophy type 1 with congenital bone fractures", + "synonyms": [ + "SMA1 with congenital bone fractures" + ] + }, + { + "gard_id": "GARD:0004950", + "name": "Spinocerebellar ataxia 30", + "synonyms": [ + "SCA30", + "Spinocerebellar ataxia type 30" + ] + }, + { + "gard_id": "GARD:0004952", + "name": "Spinocerebellar ataxia autosomal recessive 4", + "synonyms": [ + "SCAR4", + "Spinocerebellar ataxia with saccadic intrusions", + "SCASI", + "Spinocerebellar ataxia 24 (formerly)" + ] + }, + { + "gard_id": "GARD:0004953", + "name": "Spinocerebellar ataxia 5", + "synonyms": [ + "SCA5", + "Spinocerebellar ataxia type 5" + ] + }, + { + "gard_id": "GARD:0004954", + "name": "Spinocerebellar ataxia autosomal recessive 6", + "synonyms": [ + "SCAR6", + "Cerebellar ataxia infantile nonprogressive autosomal recessive", + "Norwegian infantile onset ataxia" + ] + }, + { + "gard_id": "GARD:0004955", + "name": "Spinocerebellar ataxia 7", + "synonyms": [ + "SCA7", + "Spinocerebellar ataxia type 7", + "Olivopontocerebellar atrophy 3", + "OPCA3", + "Autosomal dominant cerebellar ataxia type 2", + "OPCA with retinal degeneration", + "OPCA with macular degeneration and external ophthalmoplegia", + "OPCA III", + "ADCA, TYPE II" + ] + }, + { + "gard_id": "GARD:0004956", + "name": "Spinocerebellar ataxia 8", + "synonyms": [ + "SCA8", + "Spinocerebellar ataxia type 8" + ] + }, + { + "gard_id": "GARD:0004958", + "name": "Spinocerebellar ataxia with dysmorphism", + "synonyms": null + }, + { + "gard_id": "GARD:0004963", + "name": "Splenogonadal fusion limb defects micrognatia", + "synonyms": [ + "Splenogonadal fusion limb defects syndrome", + "SGFLD syndrome" + ] + }, + { + "gard_id": "GARD:0004965", + "name": "Split hand split foot malformation autosomal recessive", + "synonyms": null + }, + { + "gard_id": "GARD:0004967", + "name": "Split hand split foot nystagmus", + "synonyms": [ + "Split hand nystagmus syndrome", + "Karsch-Neugebauer syndrome", + "KNS" + ] + }, + { + "gard_id": "GARD:0004968", + "name": "Split hand/foot malformation X-linked", + "synonyms": [ + "SHFM2", + "Split hand foot deformity 2", + "SHFD2", + "Split hand foot anomaly - X-linked", + "SHSF2" + ] + }, + { + "gard_id": "GARD:0004969", + "name": "Split hand urinary anomalies spina bifida", + "synonyms": [ + "Czeizel-Losonci syndrome", + "Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" + ] + }, + { + "gard_id": "GARD:0004970", + "name": "Spondyloepimetaphyseal dysplasia Sponastrime type", + "synonyms": [ + "Spondylar and nasal alterations with striated metaphyses", + "Sponastrime dysplasia", + "Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation" + ] + }, + { + "gard_id": "GARD:0004971", + "name": "Spondylarthropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0004972", + "name": "Spondylocamptodactyly", + "synonyms": [ + "Camptodactyly with cervical platyspondyly", + "Spondylo camptodactyly syndrome" + ] + }, + { + "gard_id": "GARD:0004973", + "name": "Spondylocostal dysostosis 3", + "synonyms": [ + "SCOD3", + "Spondylocostal dysostosis 3, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0004974", + "name": "Spondylocarpotarsal synostosis syndrome", + "synonyms": [ + "Spondylocarpotarsal syndrome", + "SCT", + "Synspondylism congenital", + "Vertebral fusion with carpal coalition", + "Scoliosis, congenital with unilateral unsegmented bar" + ] + }, + { + "gard_id": "GARD:0004976", + "name": "Spondylocostal dysostosis 4", + "synonyms": [ + "Spondylocostal dysostosis 4, autosomal recessive", + "SCDO4" + ] + }, + { + "gard_id": "GARD:0004978", + "name": "Spondyloenchondrodysplasia with immune dysregulation", + "synonyms": [ + "SPENCD", + "SEM", + "Spondylometaphyseal dysplasia with enchondromatous changes", + "Spondyloenchondromatosis", + "Spondyloenchondrodysplasia" + ] + }, + { + "gard_id": "GARD:0004979", + "name": "Spondyloepimetaphyseal dysplasia X-linked", + "synonyms": [ + "SEMDX", + "SEMD X-linked", + "Spondylo-epimetaphyseal dysplasia" + ] + }, + { + "gard_id": "GARD:0004980", + "name": "Spondyloepimetaphyseal dysplasia Shohat type", + "synonyms": [ + "SEMD Shohat type" + ] + }, + { + "gard_id": "GARD:0004982", + "name": "Spondyloepimetaphyseal dysplasia joint laxity", + "synonyms": [ + "SEMDJL", + "Spondyloepimetaphyseal dysplasia with joint laxity" + ] + }, + { + "gard_id": "GARD:0004984", + "name": "Schimke immunoosseous dysplasia", + "synonyms": [ + "Spondyloepiphyseal dysplasia nephrotic syndrome", + "Schimke syndrome", + "Immunoosseous dysplasia, Schimke type", + "SIOD", + "Schimke immuno-osseous dysplasia" + ] + }, + { + "gard_id": "GARD:0004985", + "name": "Spondyloepiphyseal dysplasia tarda X-linked", + "synonyms": [ + "SED", + "X linked spondyloepiphyseal dysplasia tarda", + "X-linked spondyloepiphyseal dysplasia" + ] + }, + { + "gard_id": "GARD:0004987", + "name": "Spondyloepiphyseal dysplasia congenita", + "synonyms": [ + "SEDC", + "SED congenita", + "Spondyloepiphyseal dysplasia, congenital type" + ] + }, + { + "gard_id": "GARD:0004988", + "name": "Spondylohypoplasia, arthrogryposis and popliteal pterygium", + "synonyms": null + }, + { + "gard_id": "GARD:0004991", + "name": "Spondylometaphyseal dysplasia corner fracture type", + "synonyms": [ + "Spondylometaphyseal dysplasia Sutcliffe type", + "Sutcliffe type of spondylometaphyseal dysplasia", + "Sutcliffe SMD" + ] + }, + { + "gard_id": "GARD:0004992", + "name": "Spondylometaphyseal dysplasia East-African type", + "synonyms": null + }, + { + "gard_id": "GARD:0004993", + "name": "Spondylometaphyseal dysplasia Sedaghatian type", + "synonyms": [ + "Lethal metaphyseal dysplasia" + ] + }, + { + "gard_id": "GARD:0004994", + "name": "Spondyloperipheral dysplasia", + "synonyms": [ + "Spondyloperipheral dysplasia with short ulna" + ] + }, + { + "gard_id": "GARD:0004997", + "name": "Primary spontaneous pneumothorax", + "synonyms": [ + "Familial spontaneous pneumothorax", + "Spontaneous pneumothorax" + ] + }, + { + "gard_id": "GARD:0004998", + "name": "Spotted fever", + "synonyms": null + }, + { + "gard_id": "GARD:0005000", + "name": "Stalker Chitayat syndrome", + "synonyms": [ + "Intestinal malrotation facial anomalies familial type" + ] + }, + { + "gard_id": "GARD:0005003", + "name": "Steatocystoma multiplex", + "synonyms": [ + "Multiple sebaceous cysts", + "Sebocystomatosis", + "Multiplex steatocystoma" + ] + }, + { + "gard_id": "GARD:0005004", + "name": "Steatocystoma multiplex with natal teeth", + "synonyms": [ + "Natal teeth and steatocystoma multiplex" + ] + }, + { + "gard_id": "GARD:0005012", + "name": "Sternal cleft", + "synonyms": [ + "Congenital sternal cleft" + ] + }, + { + "gard_id": "GARD:0005015", + "name": "Steroid dehydrogenase deficiency dental anomalies", + "synonyms": [ + "Lyngstadaas syndrome", + "Severe dental aberrations in familial steroid dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0005023", + "name": "Stiff person syndrome", + "synonyms": [ + "Stiff man syndrome", + "Morsch Woltman syndrome", + "SPS", + "Stiff person syndrome and related disorders", + "Moersch-Woltman syndrome", + "SMS" + ] + }, + { + "gard_id": "GARD:0005025", + "name": "Stiff skin syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0005026", + "name": "Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus", + "synonyms": [ + "Stimmler syndrome" + ] + }, + { + "gard_id": "GARD:0005029", + "name": "Stoll Alembik Finck syndrome", + "synonyms": [ + "Arthrogryposis - ectodermal dysplasia - other anomalies", + "Stoll-Alembik-Finck syndrome" + ] + }, + { + "gard_id": "GARD:0005034", + "name": "Platelet storage pool deficiency", + "synonyms": [ + "Platelet storage pool diseases", + "Storage pool platelet disease" + ] + }, + { + "gard_id": "GARD:0005035", + "name": "Storm syndrome", + "synonyms": [ + "Pleiotropic, autosomal dominant disorder affecting connective tissue" + ] + }, + { + "gard_id": "GARD:0005036", + "name": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome", + "synonyms": [ + "Brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face", + "Stratton-Garcia-Young syndrome" + ] + }, + { + "gard_id": "GARD:0005040", + "name": "Striatonigral degeneration infantile", + "synonyms": [ + "Striatal degeneration familial", + "Infantile bilateral striatal necrosis", + "IBSN", + "SNDI" + ] + }, + { + "gard_id": "GARD:0005041", + "name": "Spastic paraplegia 3", + "synonyms": [ + "SPG3A", + "SPG3", + "Strumpell disease" + ] + }, + { + "gard_id": "GARD:0005045", + "name": "Stuve-Wiedemann syndrome", + "synonyms": [ + "STWS", + "Schwartz-Jampel syndrome type 2", + "SJS2", + "Schwartz-Jampel syndrome neonatal", + "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome", + "Neonatal Schwartz-Jampel syndrome type 2" + ] + }, + { + "gard_id": "GARD:0005049", + "name": "Lissencephaly 1", + "synonyms": [ + "LIS1", + "Lissencephaly sequence isolated", + "Lissencephaly classic", + "ILS", + "Classic lissencephaly" + ] + }, + { + "gard_id": "GARD:0005050", + "name": "Subependymal nodular heterotopia", + "synonyms": null + }, + { + "gard_id": "GARD:0005051", + "name": "Subpulmonary stenosis", + "synonyms": null + }, + { + "gard_id": "GARD:0005052", + "name": "Subvalvular aortic stenosis", + "synonyms": [ + "Subaortic stenosis", + "Fixed subaortic stenosis" + ] + }, + { + "gard_id": "GARD:0005053", + "name": "Mitochondrial complex II deficiency", + "synonyms": [ + "Complex 2 mitochondrial respiratory chain deficiency", + "Succinate CoQ reductase deficiency", + "Mitochondrial respiratory chain complex II deficiency", + "Succinate dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0005058", + "name": "Sugarman brachydactyly", + "synonyms": [ + "Brachydactyly of the hands and feet with duplication of the first toes", + "Brachydactyly with major proximal phalangeal shortening" + ] + }, + { + "gard_id": "GARD:0005061", + "name": "Multiple sulfatase deficiency", + "synonyms": [ + "MSD", + "Juvenile sulfatidosis", + "Mucosulfatidosis", + "Sulfatidosis juvenile, Austin type" + ] + }, + { + "gard_id": "GARD:0005062", + "name": "Sulfite oxidase deficiency", + "synonyms": [ + "Sulfocysteinuria" + ] + }, + { + "gard_id": "GARD:0005066", + "name": "Microphthalmia syndromic 4", + "synonyms": [ + "MCOPS4", + "Microphthalmia with ankyloblepharon and mental retardation", + "Syndromic microphthalmia type 4" + ] + }, + { + "gard_id": "GARD:0005068", + "name": "Swyer syndrome", + "synonyms": [ + "46, XY CGD", + "46, XY complete gonadal dysgenesis", + "46, XY pure gonadal dysgenesis", + "Gonadal dysgenesis, XY female type" + ] + }, + { + "gard_id": "GARD:0005070", + "name": "Symmetrical thalamic calcifications", + "synonyms": null + }, + { + "gard_id": "GARD:0005074", + "name": "Symphalangism distal", + "synonyms": null + }, + { + "gard_id": "GARD:0005077", + "name": "Symphalangism with multiple anomalies of hands and feet", + "synonyms": [ + "Learman syndrome" + ] + }, + { + "gard_id": "GARD:0005081", + "name": "Syndactyly type 1", + "synonyms": [ + "SDTY1", + "SD1", + "Zygodactyly" + ] + }, + { + "gard_id": "GARD:0005084", + "name": "Syndactyly Cenani Lenz type", + "synonyms": [ + "Cenani-Lenz type syndactyly", + "Cenani syndactylism", + "Syndactyly type 7" + ] + }, + { + "gard_id": "GARD:0005085", + "name": "Syndactyly ectodermal dysplasia cleft lip palate hand foot", + "synonyms": null + }, + { + "gard_id": "GARD:0005087", + "name": "Syndactyly type 2", + "synonyms": [ + "Synpolydactyly", + "SPD" + ] + }, + { + "gard_id": "GARD:0005088", + "name": "Syndactyly type 3", + "synonyms": [ + "SDTY3", + "Syndactyly of the ring and little finger", + "Syndactyly of fingers four and five", + "Ring and little finger syndactyly" + ] + }, + { + "gard_id": "GARD:0005089", + "name": "Syndactyly type 5", + "synonyms": [ + "Syndactyly with associated metacarpal and metatarsal fusion" + ] + }, + { + "gard_id": "GARD:0005090", + "name": "Syndactyly-polydactyly-earlobe syndrome", + "synonyms": [ + "Hallux syndactyly ulnar polydactyly abnormal ear lobes", + "SPEL syndrome" + ] + }, + { + "gard_id": "GARD:0005091", + "name": "Syngnathia cleft palate", + "synonyms": null + }, + { + "gard_id": "GARD:0005092", + "name": "Syngnathia multiple anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0005094", + "name": "Synostosis of talus and calcaneus short stature", + "synonyms": null + }, + { + "gard_id": "GARD:0005100", + "name": "Syringocystadenoma papilliferum", + "synonyms": [ + "Fistulous vegetative verrucous hydradenoma" + ] + }, + { + "gard_id": "GARD:0005104", + "name": "Primary carnitine deficiency", + "synonyms": [ + "Systemic primary carnitine deficiency", + "Carnitine uptake defect", + "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine", + "Carnitine plasma-membrane transporter deficiency", + "Carnitine transporter deficiency", + "Carnitine uptake deficiency" + ] + }, + { + "gard_id": "GARD:0005106", + "name": "Systemic necrotizing angitis", + "synonyms": null + }, + { + "gard_id": "GARD:0005107", + "name": "T cell immunodeficiency primary", + "synonyms": [ + "Primary T-Cell Immunodeficiency Disorders" + ] + }, + { + "gard_id": "GARD:0005108", + "name": "T-cell lymphoma 1A", + "synonyms": [ + "TCL1A", + "TCL1" + ] + }, + { + "gard_id": "GARD:0005109", + "name": "Berk-Tabatznik syndrome", + "synonyms": [ + "Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges", + "Congenital optic atrophy and brachytelephalangy", + "Kyphosis brachyphalangy optic atrophy", + "Cleft nare, brachydactyly, short stature dwarfism" + ] + }, + { + "gard_id": "GARD:0005114", + "name": "Tang Hsi Ryu syndrome", + "synonyms": [ + "Polyneuropathy hepatosplenomegaly hyperpigmentation", + "Ascitis, splenomegaly, lymphadenopathy", + "Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly" + ] + }, + { + "gard_id": "GARD:0005116", + "name": "TAR syndrome", + "synonyms": [ + "Thrombocytopenia absent radius syndrome", + "Absent radii and thrombocytopenia", + "Thrombocytopenia absent radii" + ] + }, + { + "gard_id": "GARD:0005117", + "name": "TAU syndrome", + "synonyms": [ + "Thrombocytopenia absent ulnar syndrome" + ] + }, + { + "gard_id": "GARD:0005118", + "name": "Taurodontia, absent teeth, sparse hair syndrome", + "synonyms": [ + "Teeth, congenital absence of, with taurodontia and sparse hair" + ] + }, + { + "gard_id": "GARD:0005119", + "name": "Taurodontism", + "synonyms": [ + "Bull teeth", + "Large pulp chambers in the molars" + ] + }, + { + "gard_id": "GARD:0005120", + "name": "Microcephalic osteodysplastic primordial dwarfism type 1", + "synonyms": [ + "MOPD 1", + "Microcephalic osteodysplastic primordial dwarfism types 1 and 3", + "Osteodysplastic primordial dwarfism type I", + "Brachymelic primordial dwarfism", + "Taybi-Linder syndrome", + "Primordial microcephalic dwarfism, Crachami type", + "Cephaloskeletal dysplasia", + "Low-birth-weight dwarfism with skeletal dysplasia" + ] + }, + { + "gard_id": "GARD:0005121", + "name": "Oto-palato-digital syndrome type 1", + "synonyms": [ + "Otopalatodigital syndrome type 1", + "Taybi syndrome", + "OPD syndrome", + "OPD syndrome 1", + "OPD1" + ] + }, + { + "gard_id": "GARD:0005125", + "name": "Teebi Shaltout syndrome", + "synonyms": [ + "Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" + ] + }, + { + "gard_id": "GARD:0005126", + "name": "Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet", + "synonyms": [ + "Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia", + "Trigonocephaly - bifid nose - acral anomalies" + ] + }, + { + "gard_id": "GARD:0005128", + "name": "Tel Hashomer camptodactyly syndrome", + "synonyms": [ + "Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" + ] + }, + { + "gard_id": "GARD:0005133", + "name": "Telfer Sugar Jaeger syndrome", + "synonyms": [ + "Piebald trait neurologic defects", + "White forelock and leukoderma with neurological impairment" + ] + }, + { + "gard_id": "GARD:0005135", + "name": "Temporal epilepsy, familial", + "synonyms": [ + "Familial temporal lobe epilepsy", + "FTLE", + "Epilepsy, familial temporal lobe" + ] + }, + { + "gard_id": "GARD:0005136", + "name": "Temporomandibular ankylosis", + "synonyms": [ + "Ankylosis of the temporomandibular joint (TMJ)", + "TMJ Ankylosis" + ] + }, + { + "gard_id": "GARD:0005138", + "name": "Frank Ter Haar syndrome", + "synonyms": [ + "Ter Haar syndrome", + "Autosomal recessive Melnick-Needles syndrome (formerly)", + "Megalocornea, multiple skeletal anomalies, and developmental delay" + ] + }, + { + "gard_id": "GARD:0005140", + "name": "Embryonal carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0005144", + "name": "Tetanus", + "synonyms": [ + "Lockjaw" + ] + }, + { + "gard_id": "GARD:0005147", + "name": "Tetraamelia with pulmonary hypoplasia", + "synonyms": [ + "Syndrome of tetraamelia with pulmonary hypoplasia", + "Absence of upper and lower limbs with pulmonary hypoplasia" + ] + }, + { + "gard_id": "GARD:0005148", + "name": "Tetra-amelia syndrome", + "synonyms": [ + "Tetra-amelia", + "Tetra-amelia, autosomal recessive", + "Tetraamelia, autosomal recessive", + "Total Amelia" + ] + }, + { + "gard_id": "GARD:0005151", + "name": "Tetraploidy", + "synonyms": [ + "Tetraploidy syndrome" + ] + }, + { + "gard_id": "GARD:0005153", + "name": "Isodicentric chromosome 15 syndrome", + "synonyms": [ + "Duplication/inversion 15q11", + "Inv dup(15)", + "Non-distal tetrasomy 15q", + "Non-telomeric tetrasomy 15q", + "Idic(15)", + "Tetrasomy 15q", + "Chromosome 15q tetrasomy", + "Inverted duplication 15" + ] + }, + { + "gard_id": "GARD:0005158", + "name": "Thakker-Donnai syndrome", + "synonyms": [ + "Dysmorphism multiple structural anomalies", + "Dysmorphic facial features and multiple structural abnormalities" + ] + }, + { + "gard_id": "GARD:0005161", + "name": "Central pain syndrome", + "synonyms": [ + "Thalamic syndrome (former)", + "Dejerine Roussy syndrome (former)", + "Posterior thalamic syndrome (former)", + "Retrolenticular syndrome", + "Thalamic hyperesthetic anesthesia", + "Thalamic pain syndrome (former)", + "Central post-stroke pain (subtype)" + ] + }, + { + "gard_id": "GARD:0005167", + "name": "Theodor Hertz Goodman syndrome", + "synonyms": [ + "Symphalangism, short stature, skeletal anomalies, and accessory testis" + ] + }, + { + "gard_id": "GARD:0005168", + "name": "Coccygodynia", + "synonyms": [ + "Coccydynia" + ] + }, + { + "gard_id": "GARD:0005170", + "name": "Progressive deafness with stapes fixation", + "synonyms": [ + "Thies Reis syndrome", + "Thies-Reis syndrome", + "Stapedo-vestibular ankylosis" + ] + }, + { + "gard_id": "GARD:0005173", + "name": "Thiopurine S methyltranferase deficiency", + "synonyms": [ + "TPMT deficiency", + "Thiopurines, poor metabolism of", + "Thiopurine methyltransferase deficiency", + "6-mercaptopurine sensitivity" + ] + }, + { + "gard_id": "GARD:0005175", + "name": "Thomas syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0005176", + "name": "X-linked thrombocytopenia", + "synonyms": [ + "Thrombocytopenia, x-linked", + "XLT", + "Thrombocytopenia 1", + "THC1", + "X-linked thrombocytopenia with normal platelets" + ] + }, + { + "gard_id": "GARD:0005180", + "name": "Thoracic dysplasia hydrocephalus syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0005181", + "name": "Thoraco abdominal enteric duplication", + "synonyms": null + }, + { + "gard_id": "GARD:0005184", + "name": "Thoracolaryngopelvic dysplasia", + "synonyms": [ + "TLPD", + "Barnes syndrome", + "Autosomal dominant thoracolaryngopelvic dysplasia" + ] + }, + { + "gard_id": "GARD:0005185", + "name": "Thoracopelvic dysostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0005186", + "name": "Unna-Thost palmoplantar keratoderma", + "synonyms": [ + "Diffuse nonepidermolytic palmoplantar keratoderma", + "Diffuse NEPPK", + "Thost-Unna disease", + "PPK diffusa circumscripta", + "Thost-Unna palmoplantar keratoderma" + ] + }, + { + "gard_id": "GARD:0005188", + "name": "Thrombocytopathy asplenia miosis", + "synonyms": [ + "Stormorken syndrome", + "Stormorken-Sjaastad-Langslet syndrome" + ] + }, + { + "gard_id": "GARD:0005191", + "name": "Thrombocytopenia 2", + "synonyms": [ + "THC2", + "Thrombocytopenia autosomal dominant 2" + ] + }, + { + "gard_id": "GARD:0005193", + "name": "Thrombocytopenia Robin sequence", + "synonyms": [ + "Braddock Carey syndrome", + "Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay" + ] + }, + { + "gard_id": "GARD:0005194", + "name": "Idiopathic thrombocytopenic purpura", + "synonyms": [ + "ITP", + "Autoimmune thrombocytopenic purpura", + "Thrombocytopenic purpura autoimmune" + ] + }, + { + "gard_id": "GARD:0005195", + "name": "Thrombomodulin anomalies, familial", + "synonyms": null + }, + { + "gard_id": "GARD:0005199", + "name": "Thumb deformity, alopecia, pigmentation anomaly", + "synonyms": [ + "Congenital deformity of the thumb and congenital alopecia", + "Hypotrichosis associated with congenital hypoplasia of the thumb", + "Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation" + ] + }, + { + "gard_id": "GARD:0005200", + "name": "Thumb stiff brachydactyly mental retardation", + "synonyms": [ + "Thumbs, stiff, with brachydactyly type a1 and developmental delay" + ] + }, + { + "gard_id": "GARD:0005201", + "name": "Thymic epithelial tumor", + "synonyms": [ + "Thymoma, adult", + "Epithelial tumor of thymus" + ] + }, + { + "gard_id": "GARD:0005202", + "name": "Thymic-Renal-Anal-Lung dysplasia", + "synonyms": [ + "Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" + ] + }, + { + "gard_id": "GARD:0005203", + "name": "Thyrocerebral-retinal syndrome", + "synonyms": [ + "Thyrocerebroretinal syndrome" + ] + }, + { + "gard_id": "GARD:0005204", + "name": "Familial thyroglossal duct cyst", + "synonyms": [ + "Thyroglossal duct cysts", + "Thyroglossal duct cysts familial", + "Hereditary thyroglossal duct cysts" + ] + }, + { + "gard_id": "GARD:0005206", + "name": "Thyroid cancer, follicular", + "synonyms": [ + "Thyroid carcinoma, follicular", + "Follicular thyroid carcinoma", + "FTC" + ] + }, + { + "gard_id": "GARD:0005210", + "name": "Tibia absent polydactyly arachnoid cyst", + "synonyms": [ + "Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies", + "Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies", + "Holmes Collins syndrome" + ] + }, + { + "gard_id": "GARD:0005216", + "name": "Tick-borne encephalitis", + "synonyms": null + }, + { + "gard_id": "GARD:0005218", + "name": "Tollner Horst Manzke syndrome", + "synonyms": [ + "Heptacarpo-octatarso-dactyly combined with multiple malformation" + ] + }, + { + "gard_id": "GARD:0005221", + "name": "Hereditary neuropathy with liability to pressure palsies", + "synonyms": [ + "HNPP", + "Polyneuropathy, familial recurrent", + "Tomaculous neuropathy" + ] + }, + { + "gard_id": "GARD:0005225", + "name": "Toriello-Carey syndrome", + "synonyms": [ + "Corpus callosum agenesis facial anomalies Robin sequence", + "Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome", + "Agenesis of corpus callosum with facial anomalies and Robin sequence" + ] + }, + { + "gard_id": "GARD:0005230", + "name": "Torticollis keloids cryptorchidism renal dysplasia", + "synonyms": [ + "Goeminne syndrome", + "TKC", + "TKCR syndrome" + ] + }, + { + "gard_id": "GARD:0005231", + "name": "Skin fragility-woolly hair-palmoplantar keratoderma syndrome", + "synonyms": [ + "Skin fragility woolly hair syndrome" + ] + }, + { + "gard_id": "GARD:0005232", + "name": "Bowing of legs, anterior with dwarfism", + "synonyms": [ + "Weismann Netter syndrome", + "Toxopachyosteose diaphysaire tibio-peroniere", + "WNS" + ] + }, + { + "gard_id": "GARD:0005233", + "name": "Tracheal agenesis", + "synonyms": [ + "Congenital tracheal agenesis" + ] + }, + { + "gard_id": "GARD:0005234", + "name": "Tracheobronchomegaly", + "synonyms": null + }, + { + "gard_id": "GARD:0005235", + "name": "Tracheobronchopathia osteoplastica", + "synonyms": [ + "Tracheobronchopathia osteochondroplastica", + "Cartilaginous or bony projections into the tracheobronchial lumen", + "Tracheopathia osteoplastica" + ] + }, + { + "gard_id": "GARD:0005237", + "name": "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome", + "synonyms": [ + "Mitchell-Riley syndrome", + "Martinez-Frias syndrome" + ] + }, + { + "gard_id": "GARD:0005238", + "name": "Tranebjaerg Svejgaard syndrome", + "synonyms": [ + "X-linked mental retardation associated with psoriasis", + "Mental retardation X-linked, Tranebjaerg type seizures and psoriasis", + "Tranebjaerg-Svejgaard syndrome", + "X-linked intellectual disability - seizures - psoriasis", + "X-linked intellectual disability-seizures-psoriasis syndrome" + ] + }, + { + "gard_id": "GARD:0005239", + "name": "Transcobalamin 1 deficiency", + "synonyms": [ + "TCN1 deficiency", + "Cobalamin pseudodeficiency due to transcobalamin deficiency", + "Cobalamin r binder protein deficiency" + ] + }, + { + "gard_id": "GARD:0005243", + "name": "Autosomal dominant optic atrophy plus syndrome", + "synonyms": [ + "Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy", + "OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY", + "DOMINANT OPTIC ATROPHY PLUS SYNDROME", + "Treft-Sanborn-Carey syndrome", + "Optic atrophy - deafness- polyneuropathy - myopathy", + "Optic atrophy-deafness-polyneuropathy-myopathy syndrome" + ] + }, + { + "gard_id": "GARD:0005244", + "name": "Tremor hereditary essential, 1", + "synonyms": [ + "ETM1", + "Tremor familial essential, 1", + "FET1" + ] + }, + { + "gard_id": "GARD:0005250", + "name": "Trichinosis", + "synonyms": [ + "Infection with trichinella", + "Human trichinellosis", + "Trichiniasis", + "Trichinellosis" + ] + }, + { + "gard_id": "GARD:0005258", + "name": "Trichohepatoenteric syndrome", + "synonyms": [ + "Phenotypic diarrhea", + "SD/THE", + "Syndromatic diarrhea", + "Syndromic diarrhea", + "Syndromic diarrhea/Tricho-hepato-enteric syndrome", + "Tricho-hepato-enteric syndrome" + ] + }, + { + "gard_id": "GARD:0005261", + "name": "Trichodysplasia xeroderma", + "synonyms": null + }, + { + "gard_id": "GARD:0005263", + "name": "Trichofolliculoma", + "synonyms": null + }, + { + "gard_id": "GARD:0005266", + "name": "Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina", + "synonyms": [ + "Eyelashes, long with intellectual disability", + "Oliver McFarlane syndrome" + ] + }, + { + "gard_id": "GARD:0005267", + "name": "Trichoodontoonychial dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0005269", + "name": "Trichostasis spinulosa", + "synonyms": [ + "Elevated dark spiny papules on the face or trunk" + ] + }, + { + "gard_id": "GARD:0005274", + "name": "Tricuspid atresia", + "synonyms": [ + "Congenital agenesis of the tricuspid valve" + ] + }, + { + "gard_id": "GARD:0005277", + "name": "Trigonocephaly bifid nose acral anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0005279", + "name": "Baraitser-Winter syndrome", + "synonyms": [ + "Trigonocephaly ptosis coloboma", + "Trigonocephaly ptosis mental retardation", + "Iris coloboma with ptosis hypertelorism and mental retardation", + "Fryns-Aftimos syndrome", + "Cerebro-frontofacial syndrome, type 3", + "BRWS" + ] + }, + { + "gard_id": "GARD:0005286", + "name": "Triopia", + "synonyms": null + }, + { + "gard_id": "GARD:0005287", + "name": "Triosephosphate isomerase deficiency", + "synonyms": [ + "TPI deficiency", + "Triose phosphate-isomerase deficiency" + ] + }, + { + "gard_id": "GARD:0005288", + "name": "Triphalangeal thumb non opposable", + "synonyms": [ + "Non-opposable triphalangeal thumb", + "TPT" + ] + }, + { + "gard_id": "GARD:0005289", + "name": "Preaxial polydactyly type 2", + "synonyms": [ + "Triphalangeal thumb-polysyndactyly syndrome", + "PPD2", + "Polydactyly of a triphalangeal thumb" + ] + }, + { + "gard_id": "GARD:0005290", + "name": "Triphalangeal thumbs brachyectrodactyly", + "synonyms": [ + "Triphalangeal thumb and brachyectrodactyly syndrome", + "Triphalangeal thumb and brachy-ectrodactyly syndrome" + ] + }, + { + "gard_id": "GARD:0005295", + "name": "Triploidy", + "synonyms": [ + "Triploid syndrome", + "Triploidy syndrome", + "Chromosome triploidy syndrome" + ] + }, + { + "gard_id": "GARD:0005299", + "name": "Chromosome 10p duplication", + "synonyms": [ + "Duplication 10p", + "Trisomy 10p", + "10p duplication", + "10p trisomy", + "Partial trisomy 10p" + ] + }, + { + "gard_id": "GARD:0005304", + "name": "Trisomy 12 mosaicism", + "synonyms": null + }, + { + "gard_id": "GARD:0005305", + "name": "Chromosome 12p duplication", + "synonyms": [ + "Duplication 12p", + "Trisomy 12p", + "12p duplication", + "12p trisomy", + "Partial trisomy 12p" + ] + }, + { + "gard_id": "GARD:0005311", + "name": "Chromosome 14q duplication", + "synonyms": [ + "Duplication 14q", + "Trisomy 14q", + "14q duplication", + "14q trisomy", + "Partial trisomy 14q" + ] + }, + { + "gard_id": "GARD:0005313", + "name": "Chromosome 15, trisomy mosaicism", + "synonyms": [ + "Trisomy 15 mosaicism" + ] + }, + { + "gard_id": "GARD:0005314", + "name": "Chromosome 15q duplication", + "synonyms": [ + "Duplication 15q", + "Trisomy 15q", + "15q duplication", + "15q trisomy", + "Partial trisomy 15q" + ] + }, + { + "gard_id": "GARD:0005315", + "name": "Chromosome 16p duplication", + "synonyms": [ + "Duplication 16p", + "Trisomy 16p", + "16p duplication", + "16p trisomy", + "Partial trisomy 16p" + ] + }, + { + "gard_id": "GARD:0005316", + "name": "Chromosome 16q duplication", + "synonyms": [ + "Duplication 16q", + "Trisomy 16q", + "16q duplication", + "16q trisomy", + "Partial trisomy 16q" + ] + }, + { + "gard_id": "GARD:0005317", + "name": "Trisomy 17 mosaicism", + "synonyms": [ + "Chromosome 17 duplication", + "Trisomy 17", + "Chromosome 17 trisomy", + "Chromosome 17, trisomy", + "Chromosome 17, trisomy mosaicism" + ] + }, + { + "gard_id": "GARD:0005318", + "name": "Chromosome 17p duplication", + "synonyms": [ + "Duplication 17p", + "Trisomy 17p", + "17p duplication", + "17p trisomy", + "Partial trisomy 17p", + "Dup(17p)" + ] + }, + { + "gard_id": "GARD:0005320", + "name": "Chromosome 17q duplication", + "synonyms": [ + "Duplication 17q", + "Trisomy 17q", + "17q duplication", + "17q trisomy", + "Partial trisomy 17q" + ] + }, + { + "gard_id": "GARD:0005323", + "name": "Chromosome 18p duplication", + "synonyms": [ + "Duplication 18p", + "Trisomy 18p", + "18p duplication", + "18p trisomy", + "Partial trisomy 18p" + ] + }, + { + "gard_id": "GARD:0005324", + "name": "Chromosome 18q duplication", + "synonyms": [ + "Duplication 18q", + "Trisomy 18q", + "18q duplication", + "18q trisomy", + "18q partial trisomy" + ] + }, + { + "gard_id": "GARD:0005326", + "name": "Chromosome 19q duplication", + "synonyms": [ + "Duplication 19q", + "Trisomy 19q", + "19q duplication", + "19q trisomy", + "Partial trisomy 19q" + ] + }, + { + "gard_id": "GARD:0005331", + "name": "Trisomy 2 mosaicism", + "synonyms": [ + "Mosaic trisomy 2" + ] + }, + { + "gard_id": "GARD:0005332", + "name": "Chromosome 20 trisomy", + "synonyms": [ + "Trisomy chromosome 20", + "Trisomy 20", + "Trisomy 20 mosaicism", + "Mosaic trisomy 20" + ] + }, + { + "gard_id": "GARD:0005333", + "name": "Chromosome 20p duplication", + "synonyms": [ + "Duplication 20p", + "Trisomy 20p", + "20p duplication", + "20p trisomy", + "Partial trisomy 20p" + ] + }, + { + "gard_id": "GARD:0005335", + "name": "Trisomy 22", + "synonyms": [ + "Chromosome 22 trisomy" + ] + }, + { + "gard_id": "GARD:0005337", + "name": "Chromosome 2p duplication", + "synonyms": [ + "Duplication 2p", + "Trisomy 2p", + "2p duplication", + "2p trisomy", + "Partial trisomy 2p" + ] + }, + { + "gard_id": "GARD:0005340", + "name": "Chromosome 2q duplication", + "synonyms": [ + "Duplication 2q", + "Trisomy 2q", + "2q duplication", + "2q trisomy", + "Partial trisomy 2q" + ] + }, + { + "gard_id": "GARD:0005342", + "name": "Trisomy 3 mosaicism", + "synonyms": null + }, + { + "gard_id": "GARD:0005343", + "name": "Chromosome 3p duplication", + "synonyms": [ + "Duplication 3p", + "Trisomy 3p", + "3p duplication", + "3p trisomy", + "Partial trisomy 3p" + ] + }, + { + "gard_id": "GARD:0005345", + "name": "Chromosome 3q duplication", + "synonyms": [ + "Trisomy 3q", + "Duplication 3q", + "Chromosome 3, trisomy 3q" + ] + }, + { + "gard_id": "GARD:0005347", + "name": "Chromosome 4q duplication", + "synonyms": [ + "Duplication 4q", + "Trisomy 4q", + "4q duplication", + "4q trisomy", + "Partial trisomy 4q" + ] + }, + { + "gard_id": "GARD:0005351", + "name": "Chromosome 5q duplication", + "synonyms": [ + "Duplication 5q", + "Trisomy 5q", + "Partial trisomy 5q" + ] + }, + { + "gard_id": "GARD:0005352", + "name": "Chromosome 6p duplication", + "synonyms": [ + "Duplication 6p", + "Trisomy 6p", + "6p duplication", + "6p trisomy", + "Partial trisomy 6p" + ] + }, + { + "gard_id": "GARD:0005353", + "name": "Chromosome 6q duplication", + "synonyms": [ + "Duplication 6q", + "Trisomy 6q", + "6q duplication", + "6q trisomy", + "Partial trisomy 6q" + ] + }, + { + "gard_id": "GARD:0005354", + "name": "Mosaic trisomy 7", + "synonyms": [ + "Mosaic trisomy chromosome 7", + "Trisomy 7 mosaicism" + ] + }, + { + "gard_id": "GARD:0005355", + "name": "Chromosome 7p duplication", + "synonyms": [ + "Duplication 7p", + "Trisomy 7p", + "7p duplication", + "7p trisomy", + "Partial trisomy 7p" + ] + }, + { + "gard_id": "GARD:0005357", + "name": "Chromosome 7q duplication", + "synonyms": [ + "Duplication 7q", + "Trisomy 7q", + "7q duplication", + "7q trisomy", + "Partial trisomy 7q" + ] + }, + { + "gard_id": "GARD:0005359", + "name": "Mosaic trisomy 8", + "synonyms": [ + "Mosaic trisomy chromosome 8", + "Trisomy 8 mosaicism" + ] + }, + { + "gard_id": "GARD:0005361", + "name": "Chromosome 8p duplication", + "synonyms": [ + "Duplication 8p", + "Trisomy 8p", + "8p duplication", + "8p trisomy", + "Partial trisomy 8p" + ] + }, + { + "gard_id": "GARD:0005362", + "name": "Chromosome 8q duplication", + "synonyms": [ + "Duplication 8q", + "Trisomy 8q", + "8q duplication", + "8q trisomy", + "Partial trisomy 8q" + ] + }, + { + "gard_id": "GARD:0005364", + "name": "Chromosome 9p duplication", + "synonyms": [ + "Duplication 9p", + "Trisomy 9p", + "9p duplication", + "9p trisomy", + "Partial trisomy 9p" + ] + }, + { + "gard_id": "GARD:0005369", + "name": "Chromosome Xq duplication", + "synonyms": [ + "Duplication Xq", + "Trisomy Xq", + "Xq duplication", + "Xq trisomy", + "Partial trisomy Xq" + ] + }, + { + "gard_id": "GARD:0005371", + "name": "Trochlear dysplasia", + "synonyms": [ + "Femoral trochlear dysplasia" + ] + }, + { + "gard_id": "GARD:0005372", + "name": "Troyer syndrome", + "synonyms": [ + "SPG20", + "Spastic paraparesis, childhood-onset, with distal muscle wasting", + "Spastic paraplegia, autosomal recessive, Troyer type", + "Autosomal recessive spastic paraplegia type 20", + "Spastic paraplegia 20, autosomal recessive", + "Cross-McKusick syndrome", + "Spastic paraplegia 20" + ] + }, + { + "gard_id": "GARD:0005376", + "name": "Trueb Burg Bottani syndrome", + "synonyms": [ + "Ectodermal dysplasia with corkscrew hairs", + "Tricho-odonto-onychodysplasia with syndactyly" + ] + }, + { + "gard_id": "GARD:0005388", + "name": "Tyrosine-oxidase temporary deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0005392", + "name": "Galactose epimerase deficiency", + "synonyms": [ + "UDP-Galactose-4-epimerase deficiency", + "GALE deficiency", + "Galactosemia 3", + "Epimerase deficiency galactosemia", + "Galactosemia type 3", + "GALE-D", + "Uridine diphosphate galactose-4-epimerase deficiency" + ] + }, + { + "gard_id": "GARD:0005394", + "name": "Renal dysplasia-limb defects syndrome", + "synonyms": [ + "Ulbright Hodes syndrome", + "RL syndrome", + "Renal dysplasia, mesomelia, and radiohumeral fusion", + "Renal dysplasia limb defects syndrome" + ] + }, + { + "gard_id": "GARD:0005395", + "name": "Ulerythema ophryogenesis", + "synonyms": [ + "Type of genodermatosis", + "Keratosis pilaris affecting the follicles of the eyebrow hairs" + ] + }, + { + "gard_id": "GARD:0005398", + "name": "Ulna hypoplasia-intellectual disability syndrome", + "synonyms": [ + "Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation", + "Bilateral ulnar hypoplasia and mental retardation" + ] + }, + { + "gard_id": "GARD:0005400", + "name": "Ulnar hypoplasia lobster claw deformity of feet", + "synonyms": [ + "Severe ulnar aplasia and lobster claw feet", + "Familial ulnar aplasia and lobster claw syndrome", + "Complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet", + "Van De Berghe Dequeker syndrome" + ] + }, + { + "gard_id": "GARD:0005403", + "name": "Umbilical cord ulceration and intestinal atresia", + "synonyms": [ + "Umbilical cord ulcer with intestinal atresia", + "Umbilical ulceration and intestinal atresia" + ] + }, + { + "gard_id": "GARD:0005404", + "name": "Uncombable hair syndrome", + "synonyms": [ + "Pili trianguli et Canaliculi", + "Cheveux incoiffables", + "Unmanageable hair syndrome", + "Spun glass hair" + ] + }, + { + "gard_id": "GARD:0005406", + "name": "Chromosome 10, uniparental disomy", + "synonyms": [ + "Uniparental disomy of 10", + "Mosaic trisomy 10" + ] + }, + { + "gard_id": "GARD:0005407", + "name": "Uniparental disomy of chromosome 11", + "synonyms": [ + "Paternal uniparental disomy for chromosome 11(type)", + "Uniparental disomy of 11" + ] + }, + { + "gard_id": "GARD:0005408", + "name": "Chromosome 17q11.2 deletion syndrome", + "synonyms": [ + "Chromosome 17q11.2 deletion syndrome, 1.4Mb", + "VAN ASPEREN SYNDROME", + "Monosomy 17q11", + "NF1 microdeletion syndrome", + "17q11 microdeletion syndrome", + "Del(17)(q11)", + "Neurofibromatosis type 1 microdeletion syndrome" + ] + }, + { + "gard_id": "GARD:0005409", + "name": "Paternal uniparental disomy of chromosome 14", + "synonyms": [ + "Paternal uniparental disomy 14", + "Kagami-Ogata syndrome", + "MCA due to 14q32.2 maternally expressed gene defect" + ] + }, + { + "gard_id": "GARD:0005411", + "name": "Chromosome 16, uniparental disomy", + "synonyms": [ + "Uniparental disomy of 16", + "UPD(16)" + ] + }, + { + "gard_id": "GARD:0005412", + "name": "Uniparental disomy of chromosome 2", + "synonyms": [ + "UPD 2", + "Uniparental disomy of 2" + ] + }, + { + "gard_id": "GARD:0005413", + "name": "Chromosome 21, uniparental disomy", + "synonyms": [ + "Uniparental disomy of 21" + ] + }, + { + "gard_id": "GARD:0005415", + "name": "Chromosome 5, uniparental disomy", + "synonyms": [ + "Uniparental disomy of 5", + "Mosaic trisomy of chromosome 5" + ] + }, + { + "gard_id": "GARD:0005416", + "name": "Uniparental disomy of chromosome 6", + "synonyms": [ + "UPD(6)mat", + "UPD(6)pat" + ] + }, + { + "gard_id": "GARD:0005421", + "name": "Upington disease", + "synonyms": [ + "Familial dyschondroplasia", + "Perthes-like hip disease, enchondromata, and ecchondromata" + ] + }, + { + "gard_id": "GARD:0005425", + "name": "Urachal cyst", + "synonyms": null + }, + { + "gard_id": "GARD:0005426", + "name": "Prader-Willi habitus, osteopenia, and camptodactyly", + "synonyms": [ + "Urban-Rogers-Meyer syndrome" + ] + }, + { + "gard_id": "GARD:0005427", + "name": "Hereditary mucoepithelial dysplasia", + "synonyms": [ + "Mucoepithelial dysplasia, hereditary", + "Urban-Schosser-Spohn syndrome" + ] + }, + { + "gard_id": "GARD:0005428", + "name": "Urethral obstruction sequence", + "synonyms": [ + "Early urethral obstruction sequence", + "EUOS", + "Renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction" + ] + }, + { + "gard_id": "GARD:0005429", + "name": "Orotic aciduria type 1", + "synonyms": [ + "Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency", + "UMPS deficiency", + "Uridine monophosphate synthase deficiency", + "UMP synthtase deficiency", + "Orotate phosphoribosyltransferase and omp decarboxylase deficiency", + "UMPS", + "Uridine monophosphate synthetase deficiency", + "Hereditary orotic aciduria", + "Orotic aciduria II (formerly)", + "Oroticaciduria 1", + "Hereditary orotic aciduria without megaloblastic anemia" + ] + }, + { + "gard_id": "GARD:0005430", + "name": "Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly", + "synonyms": [ + "Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly", + "Urioste syndrome", + "Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" + ] + }, + { + "gard_id": "GARD:0005432", + "name": "Urogenital adysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0005435", + "name": "Usher syndrome, type 1", + "synonyms": [ + "USH1A", + "Usher syndrome, type 1A", + "Usher syndrome, type I, French variety", + "Retinitis pigmentosa and congenital deafness", + "USH1", + "US1" + ] + }, + { + "gard_id": "GARD:0005436", + "name": "Usher syndrome, type 1B", + "synonyms": null + }, + { + "gard_id": "GARD:0005437", + "name": "Usher syndrome, type 1C", + "synonyms": [ + "USH1C", + "Usher syndrome, Acadian variety" + ] + }, + { + "gard_id": "GARD:0005438", + "name": "Usher syndrome, type 1D", + "synonyms": [ + "USH1D" + ] + }, + { + "gard_id": "GARD:0005439", + "name": "Usher syndrome, type 1E", + "synonyms": [ + "USH1E" + ] + }, + { + "gard_id": "GARD:0005440", + "name": "Usher syndrome type 2A", + "synonyms": [ + "USH2A", + "USH2", + "US2" + ] + }, + { + "gard_id": "GARD:0005441", + "name": "Usher syndrome, type 2B", + "synonyms": [ + "USH2B", + "US2B" + ] + }, + { + "gard_id": "GARD:0005442", + "name": "Usher syndrome type 3A", + "synonyms": [ + "USH3A", + "USH3" + ] + }, + { + "gard_id": "GARD:0005443", + "name": "VACTERL association", + "synonyms": [ + "VATER association" + ] + }, + { + "gard_id": "GARD:0005447", + "name": "Fetal valproate syndrome", + "synonyms": [ + "Valproic acid embryopathy", + "Susceptibility to valproate embryopathy", + "FVS", + "Fetal valproic acid syndrome" + ] + }, + { + "gard_id": "GARD:0005453", + "name": "Van Den Bosch syndrome", + "synonyms": [ + "Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity" + ] + }, + { + "gard_id": "GARD:0005456", + "name": "Cerebro-facio-articular syndrome", + "synonyms": [ + "Van Maldergem syndrome", + "Cerebro-facio-articular syndrome of Van Maldergem", + "Cerebrofacioarticular syndrome", + "Van Maldergem Wetzburger Verloes syndrome" + ] + }, + { + "gard_id": "GARD:0005461", + "name": "Congenital bilateral absence of the vas deferens", + "synonyms": [ + "Congenital bilateral aplasia of vas deferens", + "CBAVD", + "CAVD" + ] + }, + { + "gard_id": "GARD:0005465", + "name": "Vasquez Hurst Sotos syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0005467", + "name": "Vein of Galen aneurysm", + "synonyms": [ + "Ectasia or varix of the vein of Galen", + "Galenic arteriovenous malformation", + "Vein of Galen aneurysm malformation", + "VGAM", + "Galen vein aneurysm" + ] + }, + { + "gard_id": "GARD:0005469", + "name": "Velofacioskeletal syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0005470", + "name": "Palatopharyngeal incompetence", + "synonyms": [ + "Velopharyngeal incompetence", + "Velopharyngeal insufficiency", + "Congenital velopharyngeal incompetence" + ] + }, + { + "gard_id": "GARD:0005472", + "name": "Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence", + "synonyms": [ + "Ventricular extrasystoles with syncope, perodactyly, and Robin sequence", + "Stoll-Kieny-Dott syndrome", + "Ventricular extrasystoles perodactyly Robin sequence" + ] + }, + { + "gard_id": "GARD:0005474", + "name": "Ventricular fibrillation, idiopathic", + "synonyms": null + }, + { + "gard_id": "GARD:0005476", + "name": "Ventriculoarterial discordance, isolated", + "synonyms": [ + "Congenitally uncorrected transposition of the great vessels", + "ventriculoarterial discordance with atrioventricular concordance" + ] + }, + { + "gard_id": "GARD:0005478", + "name": "Verloes Bourguignon syndrome", + "synonyms": [ + "Skeletal dysplasia with amelogenesis imperfecta and platyspondyly", + "Platyspondyly with amelogenesis imperfecta", + "Amelogenesis imperfecta and platyspondyly" + ] + }, + { + "gard_id": "GARD:0005481", + "name": "Verloes Van Maldergem Marneffe syndrome", + "synonyms": [ + "Microspherophakia-metaphyseal dysplasia", + "Dominantly inherited bone dysplasia with severe eye involvement" + ] + }, + { + "gard_id": "GARD:0005482", + "name": "Verloove Vanhorick Brubakk syndrome", + "synonyms": [ + "Cleft Limb Heart Malformation Syndrome", + "CLH Syndrome" + ] + }, + { + "gard_id": "GARD:0005484", + "name": "Inflammatory linear verrucous epidermal nevus", + "synonyms": [ + "ILVEN", + "Linear verrucose epidermal nevus", + "Verrucous epidermal nevus", + "Verrucous nevus", + "Inflammatory linear verrucous epidermal naevus", + "Inflammatory linear verrucous epidermal nevus" + ] + }, + { + "gard_id": "GARD:0005485", + "name": "Verrucous nevus acanthokeratolytic", + "synonyms": null + }, + { + "gard_id": "GARD:0005486", + "name": "Vertebral body fusion overgrowth", + "synonyms": [ + "Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance" + ] + }, + { + "gard_id": "GARD:0005488", + "name": "Congenital vertical talus", + "synonyms": [ + "CVT", + "Pes valgus, congenital convex", + "Rocker-bottom foot deformity", + "Rocker bottom foot", + "Congenital convex pes valgus", + "Vertical talus, congenital", + "Vertical talus" + ] + }, + { + "gard_id": "GARD:0005489", + "name": "Vestibulocochlear dysfunction, progressive", + "synonyms": [ + "Familial progressive vestibulocochlear dysfunction" + ] + }, + { + "gard_id": "GARD:0005490", + "name": "Viljoen Kallis Voges syndrome", + "synonyms": [ + "Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability", + "Microcephaly brachydactyly kyphoscoliosis" + ] + }, + { + "gard_id": "GARD:0005493", + "name": "VIPoma", + "synonyms": [ + "Vasoactive intestinal peptide (VIP) tumor", + "Pancreatic VIPoma", + "Vasoactive intestinal peptide-producing tumor", + "Diarrheogenic Islet Cell Tumor", + "VIP-secreting tumor" + ] + }, + { + "gard_id": "GARD:0005494", + "name": "Viral hemorrhagic fever", + "synonyms": null + }, + { + "gard_id": "GARD:0005495", + "name": "Virilizing ovarian tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0005496", + "name": "Familial visceral myopathy with external ophthalmoplegia", + "synonyms": [ + "Oculogastrointestinal muscular dystrophy", + "Muscular dystrophy, oculogastrointestinal", + "Intestinal pseudoobstruction with external ophthalmoplegia", + "Visceral myopathy, familial, with external ophthalmoplegia", + "Visceral myopathy - familial external ophthalmoplegia" + ] + }, + { + "gard_id": "GARD:0005500", + "name": "Methylmalonic aciduria, cblA type", + "synonyms": [ + "Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type", + "MMA cbl A type", + "Methylmalonic acidemia cblA type", + "Vitamin B12-responsive methylmalonic acidemia type cblA", + "Vitamin B12-responsive methylmalonic aciduria type cblA", + "Methylmalonic aciduria cblA type" + ] + }, + { + "gard_id": "GARD:0005506", + "name": "Vitreoretinal degeneration", + "synonyms": null + }, + { + "gard_id": "GARD:0005507", + "name": "Autosomal dominant vitreoretinochoroidopathy", + "synonyms": [ + "VRCP autosomal dominant", + "Vitreoretinochoroidopathy dominant", + "ADVIRC" + ] + }, + { + "gard_id": "GARD:0005508", + "name": "VLCAD deficiency", + "synonyms": [ + "Very long-chain acyl-CoA dehydrogenase deficiency", + "VLCADD" + ] + }, + { + "gard_id": "GARD:0005509", + "name": "Vocal cord dysfunction familial", + "synonyms": [ + "LABD", + "Laryngeal abductor paralysis", + "Gerhardt syndrome", + "Plott syndrome", + "Familial vocal cord dysfunction" + ] + }, + { + "gard_id": "GARD:0005513", + "name": "MURCS association", + "synonyms": [ + "Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies", + "Klippel-feil deformity, conductive deafness, and absent vagina" + ] + }, + { + "gard_id": "GARD:0005518", + "name": "Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly", + "synonyms": [ + "Hydrocephalus, skeletal anomalies, and mental disturbance", + "Waaler-Aarskog syndrome", + "Ferlini-Ragno-Calzolari syndrome" + ] + }, + { + "gard_id": "GARD:0005519", + "name": "Waardenburg syndrome type 1", + "synonyms": [ + "WS1", + "Waardenburg's syndrome type 1" + ] + }, + { + "gard_id": "GARD:0005520", + "name": "Waardenburg syndrome type 2", + "synonyms": [ + "WS 2", + "WS type 2" + ] + }, + { + "gard_id": "GARD:0005523", + "name": "Waardenburg syndrome type 3", + "synonyms": [ + "Klein-Waardenburg syndrome", + "Waardenburg syndrome, type 3", + "Waardenburg syndrome with upper limb anomalies", + "White forelock (poliosis) syndrome with multiple congenital malformations", + "WS3" + ] + }, + { + "gard_id": "GARD:0005524", + "name": "Waardenburg syndrome type 4", + "synonyms": [ + "Waardenburg-Shah syndrome", + "WS4", + "Waardenburg-Hirschsprung disease", + "Shah-Waardenburg syndrome", + "Hirschsprung disease with pigmentary anomaly", + "Waardenburg-Hirschsprung syndrome" + ] + }, + { + "gard_id": "GARD:0005525", + "name": "Waardenburg syndrome", + "synonyms": [ + "Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome", + "Mende Syndrome" + ] + }, + { + "gard_id": "GARD:0005528", + "name": "WAGR syndrome", + "synonyms": [ + "Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome", + "WAGR Complex", + "Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome", + "Chromosome 11p deletion syndrome", + "11p deletion syndrome", + "AGR triad", + "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0005529", + "name": "Walbaum Titran Durieux Crepin syndrome", + "synonyms": [ + "Tetradactyly of both hands, hypoplasia of both fibulas and scapuloiliac hypoplasia" + ] + }, + { + "gard_id": "GARD:0005530", + "name": "Walker Dyson syndrome", + "synonyms": [ + "Aniridia associated with mental retardation and other eye abnormalities" + ] + }, + { + "gard_id": "GARD:0005532", + "name": "Cleidorhizomelic syndrome", + "synonyms": [ + "Cleido rhizomelic syndrome", + "Brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle", + "Wallis Zieff Goldblatt syndrome", + "Rhizomelic shortness with clavicular defect" + ] + }, + { + "gard_id": "GARD:0005534", + "name": "Micro syndrome", + "synonyms": [ + "WARBM", + "Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism", + "Warburg micro syndrome" + ] + }, + { + "gard_id": "GARD:0005535", + "name": "Yemenite deaf-blind hypopigmentation syndrome", + "synonyms": [ + "Warburg Thomsen syndrome", + "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" + ] + }, + { + "gard_id": "GARD:0005538", + "name": "Warman Mulliken Hayward syndrome", + "synonyms": [ + "Craniosynostosis Warman type", + "Craniosynostosis Boston type" + ] + }, + { + "gard_id": "GARD:0005539", + "name": "Acromelic frontonasal dysostosis", + "synonyms": [ + "AFND" + ] + }, + { + "gard_id": "GARD:0005545", + "name": "Weaver Williams syndrome", + "synonyms": [ + "Mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" + ] + }, + { + "gard_id": "GARD:0005552", + "name": "Welander distal myopathy, Swedish type", + "synonyms": [ + "Welander distal myopathy", + "WDM", + "Distal myopathy, Swedish type" + ] + }, + { + "gard_id": "GARD:0005554", + "name": "Wellesley Carmen French syndrome", + "synonyms": [ + "Cataracts, aberrant oral frenula, and growth retardation" + ] + }, + { + "gard_id": "GARD:0005555", + "name": "Wells-Jankovic syndrome", + "synonyms": [ + "Familial spastic paraparesis and deafness", + "Spastic paraparesis - deafness" + ] + }, + { + "gard_id": "GARD:0005560", + "name": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome", + "synonyms": [ + "Curatolo Cilio Pessagno syndrome", + "Familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency", + "Curatolo-Cilio-Pessagno syndrome" + ] + }, + { + "gard_id": "GARD:0005562", + "name": "Osteopathia striata with pigmentary dermopathy including white forelock", + "synonyms": [ + "Osteopathia striata associated with familial dermopathy and white forelock", + "Whyte Murphy syndrome" + ] + }, + { + "gard_id": "GARD:0005565", + "name": "Wiedemann-Steiner syndrome", + "synonyms": [ + "Hairy elbows, short stature, facial dysmorphism, and developmental delay", + "Wiedemann Grosse Dibbern syndrome", + "WDSTS", + "Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" + ] + }, + { + "gard_id": "GARD:0005566", + "name": "Wiedemann Oldigs Oppermann syndrome", + "synonyms": [ + "Hirsutism skeletal dysplasia mental retardation syndrome", + "Hirsutism-skeletal dysplasia-intellectual disability syndrome", + "Wiedemann-Oldigs-Oppermann syndrome", + "OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0005569", + "name": "Wildervanck syndrome", + "synonyms": [ + "Cervico-oculo-acoustic syndrome", + "COA Syndrome", + "Cervico-oculo-acoustic dysplasia", + "Cervicooculoacoustic syndrome" + ] + }, + { + "gard_id": "GARD:0005573", + "name": "Acquired Von Willebrand syndrome", + "synonyms": [ + "Willebrand disease, acquired", + "Acquired Von Willebrand disease" + ] + }, + { + "gard_id": "GARD:0005575", + "name": "Prader-Willi syndrome", + "synonyms": [ + "PWS", + "Willi-Prader syndrome", + "Prader-Labhart-Willi syndrome" + ] + }, + { + "gard_id": "GARD:0005576", + "name": "Denys-Drash syndrome", + "synonyms": [ + "Drash syndrome", + "Wilms tumor and pseudohermaphroditism", + "Nephropathy, wilms tumor, and genital anomalies", + "Pseudohermaphroditism, nephron disorder and Wilms' tumor", + "Nephropathy associated with male pseudohermaphroditism and Wilms' tumor" + ] + }, + { + "gard_id": "GARD:0005578", + "name": "Wilms tumor and radial bilateral aplasia", + "synonyms": [ + "Bilateral radial aplasia with Wilms tumor", + "WT5", + "Wilms tumor 5" + ] + }, + { + "gard_id": "GARD:0005579", + "name": "Wilson-Turner syndrome", + "synonyms": [ + "Mental retardation, X-linked, with gynecomastia and obesity (formerly)", + "WTS", + "Wilson Turner mental retardation syndrome (formerly)", + "Mental retardation, X-linked, syndromic 6 (formerly)", + "MRXS6", + "X-linked intellectual disability - gynecomastia - obesity", + "X-linked intellectual disability-gynecomastia-obesity syndrome" + ] + }, + { + "gard_id": "GARD:0005583", + "name": "Winter Harding Hyde syndrome", + "synonyms": [ + "Pachygyria joint contractures facial abnormalities", + "WHH syndrome" + ] + }, + { + "gard_id": "GARD:0005584", + "name": "Curry Jones syndrome", + "synonyms": [ + "Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development", + "Corpus callosum agenesis polysyndactyly" + ] + }, + { + "gard_id": "GARD:0005585", + "name": "Wisconsin syndrome", + "synonyms": [ + "Anotia/microtia, upslanted fissures, sutural synostosis,multiple", + "interstitial deletion 3q23-25" + ] + }, + { + "gard_id": "GARD:0005587", + "name": "Witkop syndrome", + "synonyms": [ + "Tooth and nail syndrome", + "TNS", + "Dysplasia of nails with hypodontia", + "Hypodontia - dysplasia of nails" + ] + }, + { + "gard_id": "GARD:0005589", + "name": "Epiphyseal dysplasia multiple with early-onset diabetes mellitus", + "synonyms": [ + "Wolcott Rallison syndrome", + "MED-IDDM syndrome", + "IDDM-MED syndrome" + ] + }, + { + "gard_id": "GARD:0005592", + "name": "Woodhouse Sakati syndrome", + "synonyms": [ + "Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities", + "Woodhouse-Sakati syndrome", + "Diabetes-hypogonadism-deafness-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0005593", + "name": "Intrauterine growth retardation with increased mitomycin C sensitivity", + "synonyms": null + }, + { + "gard_id": "GARD:0005594", + "name": "Woolly hair hypotrichosis everted lower lip and outstanding ears", + "synonyms": [ + "Salamon syndrome" + ] + }, + { + "gard_id": "GARD:0005595", + "name": "Cardiomyopathy dilated with woolly hair and keratoderma", + "synonyms": [ + "Carvajal syndrome", + "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair", + "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", + "Keratoderma with woolly hair type II", + "KWWH type II", + "Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", + "Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome", + "Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy", + "Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", + "Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" + ] + }, + { + "gard_id": "GARD:0005597", + "name": "Woolly hair syndrome", + "synonyms": [ + "Woolly hair", + "Hereditary woolly hair (autosomal dominant)", + "Familial woolly hair (autosomal recessive)" + ] + }, + { + "gard_id": "GARD:0005598", + "name": "Worster Drought syndrome", + "synonyms": [ + "Suprabulbar paresis congenital", + "Congenital suprabulbar paresis" + ] + }, + { + "gard_id": "GARD:0005604", + "name": "X-linked intellectual disability, Turner type", + "synonyms": null + }, + { + "gard_id": "GARD:0005610", + "name": "Brooks Wisniewski Brown syndrome", + "synonyms": [ + "X-linked mental retardation Brooks type" + ] + }, + { + "gard_id": "GARD:0005611", + "name": "Severe X-linked intellectual disability, Gustavson type", + "synonyms": [ + "GUST", + "Mental retardation X-linked severe Gustavson type", + "Gustavson syndrome", + "Mental retardation with optic atrophy, deafness, and seizures" + ] + }, + { + "gard_id": "GARD:0005613", + "name": "ACSL4-related intellectual disability", + "synonyms": null + }, + { + "gard_id": "GARD:0005614", + "name": "ARX-related intellectual disability", + "synonyms": null + }, + { + "gard_id": "GARD:0005615", + "name": "Snyder-Robinson syndrome", + "synonyms": [ + "X-linked mental retardation Snyder-Robinson type", + "SRS" + ] + }, + { + "gard_id": "GARD:0005617", + "name": "Allan-Herndon-Dudley syndrome", + "synonyms": [ + "AHDS", + "Allan-Herndon syndrome", + "Monocarboxylate transporter-8 deficiency", + "Triiodothyronine resistence", + "T3 resisitence", + "Intellectual disability and muscular atrophy", + "X-linked intellectual disability with hypotonia" + ] + }, + { + "gard_id": "GARD:0005618", + "name": "X-linked severe combined immunodeficiency", + "synonyms": [ + "X-linked SCID", + "Severe combined immunodeficiency, X-linked", + "SCID, X-linked", + "Severe combined immunodeficiency T- B+ due to gamma chain deficiency", + "Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative", + "SCIDX1", + "XSCID", + "X-SCID", + "SCIDX", + "Severe combined immunodeficiency T- B+, X-linked" + ] + }, + { + "gard_id": "GARD:0005620", + "name": "Xanthinuria type 2", + "synonyms": [ + "Xanthine dehydrogenase and aldehyde oxidase combined deficiency of", + "XDH and AOX dual deficiency", + "Type 2 Xanthinuria", + "Type II Xanthinuria" + ] + }, + { + "gard_id": "GARD:0005621", + "name": "Xanthinuria type 1", + "synonyms": [ + "Xanthine dehydrogenase deficiency", + "XDH deficiency", + "Xanthine oxidase deficiency", + "Type 1 Xanthinuria" + ] + }, + { + "gard_id": "GARD:0005622", + "name": "Cerebrotendinous xanthomatosis", + "synonyms": [ + "CTX", + "Cerebral cholesterinosis", + "Sterol 27-hydroxylase deficiency" + ] + }, + { + "gard_id": "GARD:0005623", + "name": "Dehydrated hereditary stomatocytosis", + "synonyms": [ + "Desiccytosis hereditary", + "Xerocytosis hereditary", + "Hereditary xerocytosis" + ] + }, + { + "gard_id": "GARD:0005630", + "name": "Xeroderma pigmentosum, variant type", + "synonyms": [ + "Xeroderma pigmentosum with normal DNA repair rates", + "Photosensitivity with defective DNA synthesis", + "XPV" + ] + }, + { + "gard_id": "GARD:0005642", + "name": "Hydrocephalus-cleft palate-joint contractures syndrome", + "synonyms": [ + "Joint contractures with other abnormalities", + "Aase-Smith syndrome I" + ] + }, + { + "gard_id": "GARD:0005643", + "name": "Dentatorubral-pallidoluysian atrophy", + "synonyms": [ + "DRPLA", + "Myoclonic epilepsy with choreoathetosis", + "Naito Oyanagi disease", + "NOD", + "Haw River syndrome", + "Ataxia, chorea, seizures, and dementia", + "Dentatorubropallidoluysian atrophy" + ] + }, + { + "gard_id": "GARD:0005644", + "name": "Cardiomyopathy dilated with conduction defect type 2", + "synonyms": null + }, + { + "gard_id": "GARD:0005648", + "name": "Photosensitive epilepsy", + "synonyms": [ + "PSE" + ] + }, + { + "gard_id": "GARD:0005651", + "name": "Polymorphous low-grade adenocarcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0005653", + "name": "Gliosarcoma", + "synonyms": [ + "Sarcomatous glioblastoma" + ] + }, + { + "gard_id": "GARD:0005654", + "name": "Alveolar soft part sarcoma", + "synonyms": [ + "ASPS" + ] + }, + { + "gard_id": "GARD:0005657", + "name": "Periodic fever, aphthous stomatitis, pharyngitis and adenitis", + "synonyms": [ + "PFAPA", + "Marshall Syndrome" + ] + }, + { + "gard_id": "GARD:0005658", + "name": "11-beta-hydroxylase deficiency", + "synonyms": [ + "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", + "Adrenal hyperplasia IV", + "Adrenal hyperplasia 4", + "Steroid 11-beta-hydroxylase deficiency", + "Adrenal hyperplasia hypertensive form", + "P450c11b1 deficiency", + "CAH due to 11-beta-hydroxylase deficiency", + "CYP11B1 deficiency" + ] + }, + { + "gard_id": "GARD:0005659", + "name": "17-beta hydroxysteroid dehydrogenase 3 deficiency", + "synonyms": [ + "17 alpha ketosteroid reductase deficiency of testis", + "17 alpha KSR deficiency", + "Neutral 17 beta hydroxysteroid oxidoreductase deficiency", + "Male pseudoherma-phroditism with gynecomastia", + "17 beta hydroxysteroid dehydrogenase III deficiency" + ] + }, + { + "gard_id": "GARD:0005660", + "name": "18 Hydroxylase deficiency", + "synonyms": [ + "Aldosterone deficiency due to defect in 18 hydroxylase", + "Aldosterone deficiency 1", + "18 alpha hydroxylase deficiency", + "Corticosterone methyloxidase type 1 deficiency", + "CMO 1 deficiency" + ] + }, + { + "gard_id": "GARD:0005661", + "name": "D-2-hydroxyglutaric aciduria", + "synonyms": [ + "D2HA", + "D-2-HGA", + "D-2-hydroxyglutaric acidemia" + ] + }, + { + "gard_id": "GARD:0005662", + "name": "3-Hydroxyisobutyric aciduria", + "synonyms": [ + "Disorder of valine metabolism" + ] + }, + { + "gard_id": "GARD:0005663", + "name": "OPA3 defect", + "synonyms": [ + "MGA3", + "3-alpha methylglutaconic aciduria type III", + "MGA type III", + "Optic atrophy plus syndrome", + "Optic atrophy infantile with chorea and spastic paraplegia", + "Iraqi Jewish optic atrophy plus", + "Optic atrophy 3", + "Costeff syndrome", + "Costeff optic atrophy syndrome", + "3-methylglutaconic aciduria type III", + "Autosomal recessive optic atrophy plus syndrome", + "Autosomal recessive optic atrophy type 3", + "Infantile optic atrophy with chorea and spastic paraplegia" + ] + }, + { + "gard_id": "GARD:0005666", + "name": "Dandy-Walker like malformation with atrioventricular septal defect", + "synonyms": [ + "Cranio-cerebello-cardiac dysplasia", + "3C syndrome", + "Craniocerebellocardiac dysplasia", + "Dandy-Walker-like malformation with ASD", + "Ritscher Schinzel syndrome", + "Ritscher-Schinzel cranio-cerebello-cardiac syndrome" + ] + }, + { + "gard_id": "GARD:0005667", + "name": "3M syndrome", + "synonyms": [ + "Three M syndrome", + "Gloomy face syndrome", + "3M1", + "Dolichospondylic dysplasia", + "Le Merrer syndrome", + "3-MSBN", + "Three-M slender-boned nanism", + "Yakut short stature syndrome", + "3-M syndrome" + ] + }, + { + "gard_id": "GARD:0005668", + "name": "Hawkinsinuria", + "synonyms": [ + "4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency" + ] + }, + { + "gard_id": "GARD:0005671", + "name": "46,XX Gonadal dysgenesis epibulbar dermoid", + "synonyms": null + }, + { + "gard_id": "GARD:0005672", + "name": "47 XXX syndrome", + "synonyms": [ + "Trisomy X", + "Triple X syndrome", + "Triple-X female", + "XXX syndrome", + "Triple-X chromosome syndrome", + "Triplo X syndrome" + ] + }, + { + "gard_id": "GARD:0005674", + "name": "47, XYY syndrome", + "synonyms": [ + "YY syndrome", + "XYY syndrome", + "XYY Karyotype", + "Jacobs syndrome", + "47,XYY syndrome", + "Disomy Y", + "Double Y", + "Double Y syndrome", + "Y disomy" + ] + }, + { + "gard_id": "GARD:0005676", + "name": "48,XXXY syndrome", + "synonyms": [ + "XXXY syndrome" + ] + }, + { + "gard_id": "GARD:0005677", + "name": "48,XXYY syndrome", + "synonyms": [ + "48,XXYY Klinefelter syndrome", + "48,XXYY variant of Klinefelter's syndrome", + "XXYY syndrome" + ] + }, + { + "gard_id": "GARD:0005678", + "name": "49,XXXXX syndrome", + "synonyms": [ + "Pentasomy X", + "Chromosome XXXXX syndrome", + "Penta-X syndrome", + "Pentasomy X syndrome", + "Chromosome X pentasomy" + ] + }, + { + "gard_id": "GARD:0005679", + "name": "49, XXXXY syndrome", + "synonyms": [ + "XXXXY syndrome", + "49,XXXXY" + ] + }, + { + "gard_id": "GARD:0005680", + "name": "5-alpha reductase deficiency", + "synonyms": [ + "Pseudovaginal perineoscrotal hypospadias", + "PPSH", + "Male pseudohermaphroditism due to 5-alpha-reductase deficiency", + "Familial incomplete male pseudohermaphroditism, type 2" + ] + }, + { + "gard_id": "GARD:0005681", + "name": "5-oxoprolinase deficiency", + "synonyms": [ + "Oxoprolinuria due to 5-oxoprolinase deficiency", + "5-alpha-oxoprolinase deficiency" + ] + }, + { + "gard_id": "GARD:0005682", + "name": "6-pyruvoyl-tetrahydropterin synthase deficiency", + "synonyms": [ + "Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency", + "Hyperphenylalanemia, BH4-deficient, A", + "PTS Deficiency" + ] + }, + { + "gard_id": "GARD:0005683", + "name": "Smith-Lemli-Opitz syndrome", + "synonyms": [ + "Smith Lemli Opitz syndrome", + "SLO syndrome", + "7-Dehydrocholesterol reductase deficiency", + "RSH syndrome", + "SLOS", + "Rutledge lethal multiple congenital anomaly syndrome", + "Polydactyly, sex reversal, renal hypoplasia, and unilobular lung", + "Lethal acrodysgenital syndrome" + ] + }, + { + "gard_id": "GARD:0005686", + "name": "Glycogen storage disease type 7", + "synonyms": [ + "Muscle phosphofructokinase deficiency", + "Tarui disease", + "GSD7", + "PFKM deficiency" + ] + }, + { + "gard_id": "GARD:0005688", + "name": "Temtamy syndrome", + "synonyms": [ + "Dysmorphism, corpus callosum agenesis and colobomas", + "Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" + ] + }, + { + "gard_id": "GARD:0005691", + "name": "Refsum disease", + "synonyms": [ + "Disorder of cornification 11 (phytanic acid type)", + "Hereditary sensory and motor neuropathy type 4", + "HMSN 4", + "Heredopathia atactica polyneuritiformis", + "Doc 11 (phytanic acid type)", + "Hypertrophic neuropathy of Refsum", + "Phytanic acid oxidase deficiency" + ] + }, + { + "gard_id": "GARD:0005692", + "name": "Partial androgen insensitivity syndrome", + "synonyms": [ + "Androgen insensitivity syndrome, partial", + "PAIS", + "Reifenstein syndrome, partial", + "Androgen resistance syndrome, partial", + "Androgen insensitivity, partial, with or without breast cancer" + ] + }, + { + "gard_id": "GARD:0005693", + "name": "Reactive arthritis", + "synonyms": [ + "Post-infectious arthritis", + "Post-infectious reactive arthropathy", + "PIRA", + "Reiter syndrome", + "Reiter's syndrome" + ] + }, + { + "gard_id": "GARD:0005694", + "name": "Retinitis pigmentosa", + "synonyms": [ + "RP" + ] + }, + { + "gard_id": "GARD:0005695", + "name": "Retinopathy of prematurity", + "synonyms": [ + "ROP", + "Retrolental fibroplasia" + ] + }, + { + "gard_id": "GARD:0005696", + "name": "Rett syndrome", + "synonyms": [ + "Autism, dementia, ataxia, and loss of purposeful hand use" + ] + }, + { + "gard_id": "GARD:0005697", + "name": "Multifocal fibrosclerosis", + "synonyms": [ + "Retroperitoneal fibrosis, familial", + "Mediastinal fibrosis, familial" + ] + }, + { + "gard_id": "GARD:0005698", + "name": "Acute respiratory distress syndrome", + "synonyms": [ + "ARDS", + "Acute lung injury", + "ALI", + "Adult respiratory distress syndrome", + "Respiratory distress syndrome, adult", + "Increased-permeability pulmonary edema", + "Non-cardiogenic pulmonary edema", + "Shock lung", + "Stiff lung" + ] + }, + { + "gard_id": "GARD:0005699", + "name": "Rheumatic Fever", + "synonyms": [ + "Acute Rheumatic Fever", + "Inflammatory Rheumatism" + ] + }, + { + "gard_id": "GARD:0005700", + "name": "Rickets", + "synonyms": [ + "Vitamin-D deficiency rickets", + "Nutritional rickets", + "Hypovitaminosis D", + "Vitamin D deficiency disease" + ] + }, + { + "gard_id": "GARD:0005701", + "name": "Axenfeld-Rieger syndrome", + "synonyms": [ + "Rieger syndrome", + "Iridogoniodysgenesis with somatic anomalies", + "Goniodysgenesis hypodontia" + ] + }, + { + "gard_id": "GARD:0005706", + "name": "Aberrant subclavian artery", + "synonyms": [ + "Aberrant right subclavian artery", + "Aberrant left subclavian artery" + ] + }, + { + "gard_id": "GARD:0005708", + "name": "Idiopathic achalasia", + "synonyms": [ + "Esophageal achalasia", + "Primary achalasia", + "Achalasia cardia", + "Idiopathic achalasia of esophagus", + "Achalasia" + ] + }, + { + "gard_id": "GARD:0005709", + "name": "Achard Thiers syndrome", + "synonyms": [ + "Diabetes in bearded women", + "Diabetic-bearded woman syndrome" + ] + }, + { + "gard_id": "GARD:0005714", + "name": "Glycogen storage disease type 2", + "synonyms": [ + "Pompe disease", + "Acid maltase deficiency disease", + "Aglucosidase alfa", + "Alpha-1,4-glucosidase deficiency", + "Cardiomegalia glycogenica diffusa", + "Deficiency of alpha-glucosidase", + "GSD II", + "Deficiency of lysosomal alpha-glucosidase" + ] + }, + { + "gard_id": "GARD:0005717", + "name": "Acquired agranulocytosis", + "synonyms": [ + "Agranulocytosis, acquired" + ] + }, + { + "gard_id": "GARD:0005721", + "name": "Acrocallosal syndrome, Schinzel type", + "synonyms": [ + "Schinzel syndrome 1", + "Acrocallosal syndrome", + "ACS", + "Schinzel acrocallosal syndrome", + "Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", + "ACLS" + ] + }, + { + "gard_id": "GARD:0005722", + "name": "Acrodermatitis", + "synonyms": null + }, + { + "gard_id": "GARD:0005723", + "name": "Acrodermatitis enteropathica", + "synonyms": [ + "Acrodermatitis enteropathica zinc deficiency type", + "AEZ", + "Brandt syndrome", + "Danbolt-Cross syndrome", + "AE" + ] + }, + { + "gard_id": "GARD:0005724", + "name": "Acrodysostosis", + "synonyms": [ + "Arkless-Graham syndrome", + "Maroteaux-Malamut syndrome", + "Acrodysplasia", + "Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome", + "Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome" + ] + }, + { + "gard_id": "GARD:0005725", + "name": "Acromegaly", + "synonyms": [ + "Somatotroph adenoma", + "Growth hormone excess", + "Pituitary giant" + ] + }, + { + "gard_id": "GARD:0005726", + "name": "Acrospiroma", + "synonyms": [ + "Hidradenoma", + "Eccrine Acrospiroma" + ] + }, + { + "gard_id": "GARD:0005727", + "name": "Isolated ACTH deficiency", + "synonyms": [ + "Isolated Adrenocorticotropic hormone deficiency", + "Congenital isolated ACTH deficiency", + "ACTH deficiency, isolated" + ] + }, + { + "gard_id": "GARD:0005728", + "name": "Actinomycosis", + "synonyms": [ + "Anaerobic actinomyces infection", + "Canaliculitis", + "Keratoactinomycosis", + "Actinomyces israeli", + "Actinomycetes" + ] + }, + { + "gard_id": "GARD:0005730", + "name": "Acute mountain sickness", + "synonyms": [ + "Altitude sickness", + "High altitude cerebral edema", + "High altitude pulmonary edema", + "Mountain sickness", + "Altitude anoxia" + ] + }, + { + "gard_id": "GARD:0005732", + "name": "Acute intermittent porphyria", + "synonyms": [ + "AIP", + "Porphobilinogen deaminase deficiency", + "PBGD deficiency", + "Uroporphyrinogen synthase deficiency", + "UPS deficiency", + "Porphyria, Swedish type", + "Hydroxymethylbilane synthase deficiency", + "HMBS deficiency" + ] + }, + { + "gard_id": "GARD:0005736", + "name": "Acute necrotizing ulcerative gingivitis", + "synonyms": [ + "Acute membranous gingivitis", + "ANUG", + "Fusospirillary gingivitis", + "Fusospirillosis", + "Phagedenic gingivitis", + "Vincent's stomatitis", + "Vincent's infection", + "Vincent's gingivitis" + ] + }, + { + "gard_id": "GARD:0005739", + "name": "Adams-Oliver syndrome", + "synonyms": [ + "Limb scalp and skull defects", + "AOS", + "Congenital scalp defects with distal limb anomalies", + "Congenital scalp defects with distal limb reduction anomalies", + "Adams Oliver syndrome", + "Limb, scalp and skull defects" + ] + }, + { + "gard_id": "GARD:0005740", + "name": "Addison's disease", + "synonyms": [ + "Addison disease", + "Adrenal hypoplasia", + "Hypoadrenocorticism familial", + "Adrenal aplasia", + "Adrenal gland hypofunction" + ] + }, + { + "gard_id": "GARD:0005741", + "name": "Adenocarcinoid tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0005742", + "name": "Lung adenocarcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0005743", + "name": "Adenoid cystic carcinoma", + "synonyms": [ + "Adenocystic carcinoma", + "Cribriform carcinoma", + "Cylindroma" + ] + }, + { + "gard_id": "GARD:0005745", + "name": "Adenoma of the adrenal gland", + "synonyms": [ + "Adrenal cortical adenoma", + "Adrenal adenoma", + "Adrenal incidentaloma", + "Adrenocortical adenoma" + ] + }, + { + "gard_id": "GARD:0005747", + "name": "Ameloblastoma", + "synonyms": [ + "Adenoameloblastoma" + ] + }, + { + "gard_id": "GARD:0005748", + "name": "Adenosine deaminase deficiency", + "synonyms": [ + "ADA deficiency", + "Severe combined immunodeficiency due to adenosine deaminase deficiency", + "Severe combined immunodeficiency due to ADA deficiency", + "SCID due to ADA deficiency", + "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", + "ADA-SCID", + "Adenosine deaminase deficient severe combined immunodeficiency" + ] + }, + { + "gard_id": "GARD:0005749", + "name": "Adie syndrome", + "synonyms": [ + "Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes", + "Holmes-Adie syndrome", + "HAS", + "Adie's Pupil" + ] + }, + { + "gard_id": "GARD:0005750", + "name": "Adiposis dolorosa", + "synonyms": [ + "Dercum disease", + "Dercum's disease" + ] + }, + { + "gard_id": "GARD:0005751", + "name": "Adrenal cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0005755", + "name": "Adrenal medulla cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0005757", + "name": "21-hydroxylase deficiency", + "synonyms": [ + "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency", + "CYP21 deficiency", + "21 hydroxylase deficiency", + "Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" + ] + }, + { + "gard_id": "GARD:0005758", + "name": "X-linked adrenoleukodystrophy ", + "synonyms": [ + "X-ALD", + "Adrenoleukodystrophy", + "ALD" + ] + }, + { + "gard_id": "GARD:0005761", + "name": "Afibrinogenemia", + "synonyms": [ + "Afibrinogenemia congenital", + "Congenital afibrinogenemia" + ] + }, + { + "gard_id": "GARD:0005763", + "name": "Ahumada Del Castillo syndrome", + "synonyms": [ + "Argonz Del Castillo syndrome", + "Amenorrhea galactorrhea FSH decrease syndrome", + "Galactorrhea amenorrhea without pregnancy", + "Nonpuerperal galactorrhe amenorrhea", + "Argonz Ahumada Del Castillo syndrome" + ] + }, + { + "gard_id": "GARD:0005764", + "name": "Aicardi syndrome", + "synonyms": [ + "AIC", + "Corpus callosum, agenesis of, with chorioretinal abnormality" + ] + }, + { + "gard_id": "GARD:0005765", + "name": "AIDS dysmorphic syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0005768", + "name": "Albinism", + "synonyms": null + }, + { + "gard_id": "GARD:0005770", + "name": "Albright's hereditary osteodystrophy", + "synonyms": [ + "AHO", + "Albright hereditary osteodystrophy", + "Pseudohypoparathyroidism with Albright hereditary osteodystrophy" + ] + }, + { + "gard_id": "GARD:0005774", + "name": "Alexander disease", + "synonyms": [ + "Alexanders leukodystrophy", + "Megalencephaly in infancy accompanied by progressive spasticity and dementia" + ] + }, + { + "gard_id": "GARD:0005775", + "name": "Alkaptonuria", + "synonyms": [ + "AKU", + "Alcaptonuria", + "Ochronosis, hereditary", + "Alkaptonuric ochronosis", + "Homogentisic acid oxidase deficiency", + "Homogentisic acidura" + ] + }, + { + "gard_id": "GARD:0005776", + "name": "Allergic angiitis", + "synonyms": null + }, + { + "gard_id": "GARD:0005779", + "name": "Allergic encephalomyelitis", + "synonyms": null + }, + { + "gard_id": "GARD:0005783", + "name": "Alpers syndrome", + "synonyms": [ + "Alpers disease", + "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis", + "Alpers progressive infantile poliodystrophy", + "Poliodystrophia cerebri progressiva", + "Progressive cerebral poliodystrophy", + "Diffuse cerebral degeneration in infancy", + "Alpers-Huttenlocher syndrome", + "Neuronal degeneration of childhood with liver disease, progressive", + "PNDC", + "Infantile poliodystrophy" + ] + }, + { + "gard_id": "GARD:0005784", + "name": "Alpha-1 antitrypsin deficiency", + "synonyms": [ + "AAT deficiency", + "A1AT deficiency", + "AATD", + "Alpha 1 antitrypsin deficiency" + ] + }, + { + "gard_id": "GARD:0005785", + "name": "Alport syndrome", + "synonyms": [ + "Alport syndrome, X-linked", + "Hemorrhagic familial nephritis", + "Hemorrhagic hereditary nephritis", + "Congenital hereditary hematuria" + ] + }, + { + "gard_id": "GARD:0005786", + "name": "Amyotrophic lateral sclerosis", + "synonyms": [ + "ALS", + "Lou Gehrig disease", + "Amyotrophic lateral sclerosis type 1", + "ALS1", + "Charcot disease", + "Motor neurone disease", + "MND" + ] + }, + { + "gard_id": "GARD:0005787", + "name": "Alström syndrome", + "synonyms": [ + "ALMS", + "ALSS", + "Alstrom's syndrome", + "Alstrom syndrome" + ] + }, + { + "gard_id": "GARD:0005791", + "name": "Amelogenesis imperfecta", + "synonyms": null + }, + { + "gard_id": "GARD:0005794", + "name": "Aminoaciduria", + "synonyms": null + }, + { + "gard_id": "GARD:0005797", + "name": "AL amyloidosis", + "synonyms": [ + "Primary systemic amyloidosis", + "Amyloidosis AL", + "Light chain amyloidosis", + "Systemic AL amyloidsis", + "Primary AL amyloidosis", + "Primary systemic AL amyloidosis", + "Amyloidosis primary systemic", + "Primary amyloidosis (Formerly)" + ] + }, + { + "gard_id": "GARD:0005798", + "name": "Amyotonia congenita", + "synonyms": [ + "Oppenheim disease", + "Oppenheim's disease" + ] + }, + { + "gard_id": "GARD:0005802", + "name": "Oto-palato-digital syndrome type 2", + "synonyms": [ + "Otopalatodigital syndrome type 2", + "Andre syndrome", + "OPD 2 syndrome", + "Cranio-oro-digital syndrome", + "Faciopalatoosseous syndrome", + "FPO" + ] + }, + { + "gard_id": "GARD:0005803", + "name": "Androgen insensitivity syndrome", + "synonyms": [ + "AIS", + "Testicular feminization syndrome (formerly)", + "DHTR deficiency", + "Androgen receptor deficiency", + "Dihydrotestosterone receptor deficiency" + ] + }, + { + "gard_id": "GARD:0005808", + "name": "Anencephaly", + "synonyms": [ + "Absence of a large part of the brain and the skull" + ] + }, + { + "gard_id": "GARD:0005810", + "name": "Angelman syndrome", + "synonyms": [ + "AS", + "Happy puppet syndrome (formerly)" + ] + }, + { + "gard_id": "GARD:0005811", + "name": "Angioimmunoblastic lymphadenopathy with dysproteinemia", + "synonyms": [ + "Angioimmunoblastic with dysproteinemia lymphadenopathy" + ] + }, + { + "gard_id": "GARD:0005813", + "name": "Angiosarcoma of the liver", + "synonyms": null + }, + { + "gard_id": "GARD:0005814", + "name": "Angiosarcoma of the scalp", + "synonyms": null + }, + { + "gard_id": "GARD:0005816", + "name": "Aniridia", + "synonyms": null + }, + { + "gard_id": "GARD:0005818", + "name": "Anodontia", + "synonyms": [ + "Anodontia of permanent dentition", + "Absence of permanent teeth" + ] + }, + { + "gard_id": "GARD:0005819", + "name": "Anorchia", + "synonyms": [ + "Absence of testes", + "Empty scrotum", + "Congenital absence of testes", + "Bilateral anorchia", + "Testicular agenesis" + ] + }, + { + "gard_id": "GARD:0005824", + "name": "Antiphospholipid syndrome", + "synonyms": [ + "Familial antiphospholipid syndrome", + "Antiphospholipid antibody syndrome", + "Lupus anticoagulant, familial", + "APS", + "Hughes syndrome" + ] + }, + { + "gard_id": "GARD:0005826", + "name": "Antley Bixler syndrome", + "synonyms": [ + "Trapezoidocephaly synostosis syndrome", + "Multisynostotic osteodysgenesis with long bone fractures", + "Osteodysgenesis, multisynostotic with fractures" + ] + }, + { + "gard_id": "GARD:0005828", + "name": "Aortic coarctation", + "synonyms": [ + "Coarctation of the aorta" + ] + }, + { + "gard_id": "GARD:0005830", + "name": "Aortic valve stenosis", + "synonyms": [ + "Aortic stenosis", + "Valvular aortic stenosis" + ] + }, + { + "gard_id": "GARD:0005833", + "name": "Apert syndrome", + "synonyms": [ + "Acrocephalo-syndactyly type 1", + "ACS 1", + "Syndactylic oxycephaly", + "Apert-Crouzon disease" + ] + }, + { + "gard_id": "GARD:0005834", + "name": "Aphthous stomatitis", + "synonyms": null + }, + { + "gard_id": "GARD:0005835", + "name": "Aplasia cutis congenita", + "synonyms": [ + "Aplasia cutis congenita nonsyndromic", + "Congenital defect of skull and scalp", + "Scalp defect congenital" + ] + }, + { + "gard_id": "GARD:0005836", + "name": "Aplastic anemia", + "synonyms": [ + "Anemia aplastic", + "Aplastic anemia idiopathic", + "Idiopathic aplastic anemia", + "Secondary aplastic anemia" + ] + }, + { + "gard_id": "GARD:0005838", + "name": "Apraxia", + "synonyms": [ + "Dyspraxia" + ] + }, + { + "gard_id": "GARD:0005839", + "name": "Arachnoiditis", + "synonyms": [ + "Spinal arachnoiditis" + ] + }, + { + "gard_id": "GARD:0005840", + "name": "Arginase deficiency", + "synonyms": [ + "ARG1 deficiency", + "Hyperargininemia", + "Argininemia" + ] + }, + { + "gard_id": "GARD:0005843", + "name": "Argininosuccinic aciduria", + "synonyms": [ + "Arginino succinase deficiency", + "Inborn error of urea synthesis, arginino succinic type", + "Urea cycle disorder, arginino succinase type", + "Argininosuccinate lyase deficiency", + "ASL deficiency", + "ASA deficiency", + "Argininosuccinicaciduria", + "Argininosuccinate acidemia", + "Argininosuccinic acid lyase deficiency" + ] + }, + { + "gard_id": "GARD:0005847", + "name": "Arrhythmogenic right ventricular cardiomyopathy", + "synonyms": [ + "ARVD", + "ARVC", + "Arrhythmogenic right ventricular dysplasia" + ] + }, + { + "gard_id": "GARD:0005852", + "name": "Asbestosis", + "synonyms": [ + "Pulmonary fibrosis - from asbestos exposure", + "Idiopathic interstitial pneumonitis - from asbestos exposure" + ] + }, + { + "gard_id": "GARD:0005853", + "name": "Asherman's syndrome", + "synonyms": [ + "Asherman syndrome", + "Intrauterine synechiae", + "Uterine synechiae" + ] + }, + { + "gard_id": "GARD:0005854", + "name": "Aspartylglycosaminuria", + "synonyms": [ + "Aspartylglucosaminuria", + "Aspartylglucosamidase (AGA) deficiency", + "AGU", + "AGA deficiency", + "Glycosylasparaginase deficiency" + ] + }, + { + "gard_id": "GARD:0005856", + "name": "Aspergillosis", + "synonyms": null + }, + { + "gard_id": "GARD:0005857", + "name": "Asphyxia neonatorum", + "synonyms": [ + "Hypoxia neonatorum" + ] + }, + { + "gard_id": "GARD:0005860", + "name": "Anaplastic astrocytoma", + "synonyms": [ + "Grade III astrocytoma" + ] + }, + { + "gard_id": "GARD:0005862", + "name": "Ataxia telangiectasia", + "synonyms": [ + "AT", + "Louis-Bar syndrome", + "Cerebello-oculocutaneous telangiectasia", + "Immunodeficiency with ataxia telangiectasia" + ] + }, + { + "gard_id": "GARD:0005863", + "name": "Athetosis", + "synonyms": null + }, + { + "gard_id": "GARD:0005864", + "name": "Alpha-thalassemia x-linked intellectual disability syndrome", + "synonyms": [ + "Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked", + "ATRX syndrome", + "ATR, nondeletion type", + "XLMR hypotonic face syndrome", + "X-linked alpha-thalassemia/intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0005865", + "name": "Ostium secundum atrial septal defect", + "synonyms": [ + "ASD ostium secundum type", + "Ostium secundum ASD", + "osASD" + ] + }, + { + "gard_id": "GARD:0005866", + "name": "Atrophoderma of Pasini and Pierini", + "synonyms": [ + "Idiopathic atrophoderma of Pasini and Pierini", + "Congenital atrophoderma of Pasini and Pierini" + ] + }, + { + "gard_id": "GARD:0005867", + "name": "Localized lipodystrophy", + "synonyms": [ + "Localized lipodystrophy", + "Centrifugal lipodystrophy (subtype)", + "Drug-induced localized lipodystrophy (subtype)", + "Idiopathic localized lipodystrophy (subtype)", + "Panniculitis and localized lipodystrophy (subtype)", + "Pressure-induced localized lipoatrophy (subtype)" + ] + }, + { + "gard_id": "GARD:0005870", + "name": "Autoimmune hemolytic anemia", + "synonyms": [ + "Anemia hemolytic autoimmune", + "Acquired autoimmune hemolytic anemia", + "Idiopathic autoimmune hemolytic anemia", + "Familial auto-immune hemolytic anemia (subtype)", + "Immuno-hemolytic anemia" + ] + }, + { + "gard_id": "GARD:0005871", + "name": "Autoimmune hepatitis", + "synonyms": [ + "Autoimmune chronic hepatitis", + "AIH" + ] + }, + { + "gard_id": "GARD:0005877", + "name": "B-cell lymphoma", + "synonyms": [ + "Lymphoma, B-Cell" + ] + }, + { + "gard_id": "GARD:0005878", + "name": "Babesiosis", + "synonyms": [ + "Babesia parasite infection", + "Human babesiosis" + ] + }, + { + "gard_id": "GARD:0005881", + "name": "Bacterial meningitis", + "synonyms": [ + "Meningitis, bacterial" + ] + }, + { + "gard_id": "GARD:0005885", + "name": "Tumefactive multiple sclerosis", + "synonyms": [ + "Diffuse cerebral sclerosis of Schilder", + "Balo's concentric sclerosis", + "Marburg variant", + "Balo disease", + "Baló concentric sclerosis", + "Balo's disease", + "Encephalitis periaxialis concentrica", + "Concentric demyelination" + ] + }, + { + "gard_id": "GARD:0005887", + "name": "Bannayan-Riley-Ruvalcaba syndrome", + "synonyms": [ + "BRRS", + "Riley-Smith syndrome", + "Macrocephaly multiple lipomas and hemangiomata", + "Ruvalcaba -Myhre-Smith syndrome", + "RMSS", + "Bannayan-Zonana syndrome", + "BZS", + "Macrocephaly pseudopapilledema and multiple hemangiomas" + ] + }, + { + "gard_id": "GARD:0005888", + "name": "Banti's syndrome", + "synonyms": [ + "Idiopathic portal hypertension", + "Idiopathic congestive splenomegaly", + "Banti's disease" + ] + }, + { + "gard_id": "GARD:0005890", + "name": "Barth syndrome", + "synonyms": [ + "BTHS", + "3-methylglutaconic aciduria type II", + "MGA type II", + "Cardioskeletal myopathy with neutropenia and abnormal mitochondria", + "TAZ defect" + ] + }, + { + "gard_id": "GARD:0005893", + "name": "Bartter syndrome", + "synonyms": [ + "Potassium wasting", + "Bartter's syndrome", + "Hypokalemic alkalosis with hypercalciuria" + ] + }, + { + "gard_id": "GARD:0005896", + "name": "Migraine with brainstem aura", + "synonyms": [ + "Bickerstaff migraine", + "Basilar artery migraine", + "Brainstem migraine", + "Vertebrobasilar migraine", + "Basilar migraine", + "Basilar-type migraine", + "MBA" + ] + }, + { + "gard_id": "GARD:0005897", + "name": "Neuronal ceroid lipofuscinosis 3", + "synonyms": [ + "Juvenile neuronal ceroid lipofuscinosis", + "Vogt Spielmeyer disease", + "Spielmeyer Sjogren disease", + "CLN3 disease, juvenile" + ] + }, + { + "gard_id": "GARD:0005898", + "name": "Myopathy congenital", + "synonyms": [ + "Batten Turner congenital myopathy", + "Congenital myopathy" + ] + }, + { + "gard_id": "GARD:0005899", + "name": "Congenital contractural arachnodactyly", + "synonyms": [ + "Beals syndrome", + "Arachnodactyly, contractural Beals type", + "Contractures, multiple with arachnodactyly", + "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis", + "Beals-Hecht syndrome", + "CCA", + "Distal arthrogryposis type 9" + ] + }, + { + "gard_id": "GARD:0005900", + "name": "Becker muscular dystrophy", + "synonyms": [ + "Benign pseudohypertrophic muscular dystrophy", + "Becker's muscular dystrophy", + "Muscular dystrophy, Becker type", + "Muscular dystrophy pseudohypertrophic progressive, Becker type", + "Becker dystrophinopathy" + ] + }, + { + "gard_id": "GARD:0005901", + "name": "Becker's nevus", + "synonyms": [ + "Becker melanosis", + "Becker nevus", + "Becker naevus" + ] + }, + { + "gard_id": "GARD:0005905", + "name": "Bejel", + "synonyms": [ + "Dichuchwa", + "Endemic syphilis", + "Frenga", + "Njovera", + "Nonvenereal syphilis" + ] + }, + { + "gard_id": "GARD:0005906", + "name": "Bell's palsy", + "synonyms": [ + "Facial palsy", + "Facial cranial nerve paralysis", + "Bell palsy", + "Antoni's palsy", + "Facial nerve palsy", + "Facial paralysis", + "Idiopathic facial palsy", + "Refrigeration palsy" + ] + }, + { + "gard_id": "GARD:0005907", + "name": "Diffuse astrocytoma", + "synonyms": [ + "Low-grade diffuse astrocytoma", + "Fibrillary astrocytoma (histologic variant)", + "Gemistocytic astrocytoma (histologic variant)", + "Protoplasmic astrocytoma (histologic variant)" + ] + }, + { + "gard_id": "GARD:0005909", + "name": "Benign essential blepharospasm", + "synonyms": [ + "BEB", + "Blepharospasm", + "OBSOLETE: Benign essential blepharospasm", + "Primary blepharospasm" + ] + }, + { + "gard_id": "GARD:0005913", + "name": "Mucous membrane pemphigoid", + "synonyms": [ + "Benign mucosal pemphigoid", + "Benign mucous membrane pemphigoid", + "Cicatricial pemphigoid disease" + ] + }, + { + "gard_id": "GARD:0005915", + "name": "Benign paroxysmal positional vertigo", + "synonyms": [ + "BPPV", + "Familial vestibulopathy", + "Familial benign recurrent vertigo" + ] + }, + { + "gard_id": "GARD:0005918", + "name": "Beta-galactosidase-1 deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0005924", + "name": "Biliary tract cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0005925", + "name": "Binswanger's disease", + "synonyms": [ + "Dementia multi-infarct", + "Multi-infarct dementia" + ] + }, + { + "gard_id": "GARD:0005926", + "name": "Birdshot chorioretinopathy", + "synonyms": [ + "BSCR", + "Multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk", + "Birdshot chorioretinitis", + "Birdshot retinochoroiditis", + "Birdshot retinochoroidopathy", + "Vitiliginous choroiditis" + ] + }, + { + "gard_id": "GARD:0005931", + "name": "Blastomycosis", + "synonyms": [ + "North American blastomycosis", + "Gilchrist's disease" + ] + }, + { + "gard_id": "GARD:0005932", + "name": "Blepharophimosis", + "synonyms": null + }, + { + "gard_id": "GARD:0005939", + "name": "Blue diaper syndrome", + "synonyms": [ + "Hypercalcemia, familial, with nephrocalcinosis and indicanuria" + ] + }, + { + "gard_id": "GARD:0005940", + "name": "Blue rubber bleb nevus syndrome", + "synonyms": [ + "Bean syndrome", + "Blue rubber bleb nevus", + "BRBNS" + ] + }, + { + "gard_id": "GARD:0005948", + "name": "Bowen's disease", + "synonyms": null + }, + { + "gard_id": "GARD:0005950", + "name": "Bowen-Conradi syndrome", + "synonyms": [ + "Bowen Hutterite syndrome (formerly)", + "Bowen-Conradi Hutterite syndrome", + "BWCNS" + ] + }, + { + "gard_id": "GARD:0005951", + "name": "Bowenoid papulosis", + "synonyms": [ + "BP" + ] + }, + { + "gard_id": "GARD:0005961", + "name": "Bronchiolitis obliterans organizing pneumonia", + "synonyms": [ + "BOOP", + "Constrictive bronchiolitis", + "Organizing pneumonia" + ] + }, + { + "gard_id": "GARD:0005962", + "name": "Bronchopulmonary dysplasia", + "synonyms": [ + "BPD" + ] + }, + { + "gard_id": "GARD:0005963", + "name": "Brown syndrome", + "synonyms": [ + "Superior Oblique Tendon Sheath syndrome", + "Tendon Sheath Adherence, Superior Oblique" + ] + }, + { + "gard_id": "GARD:0005964", + "name": "Brown-Sequard syndrome", + "synonyms": [ + "Hemispinal cord syndrome", + "Hemicord syndrome", + "Hemiparaplegic syndrome" + ] + }, + { + "gard_id": "GARD:0005966", + "name": "Brucellosis", + "synonyms": [ + "Malta fever", + "Undulant fever", + "Rock fever", + "Gibraltar fever", + "Cyprus fever" + ] + }, + { + "gard_id": "GARD:0005968", + "name": "Budd-Chiari syndrome", + "synonyms": [ + "Membranous obstruction of the inferior vena cava" + ] + }, + { + "gard_id": "GARD:0005969", + "name": "Buerger disease", + "synonyms": [ + "Buerger's disease", + "Thromboangiitis obliterans", + "TAO", + "Inflammatory occlusive peripheral vascular disease", + "Occlusive peripheral vascular disease" + ] + }, + { + "gard_id": "GARD:0005972", + "name": "Bullous pemphigoid", + "synonyms": [ + "Senile Dermatitis Herpetiformis", + "Pemphigoid", + "Parapemphigus", + "Old Age Pemphigus", + "Benign Pemphigus" + ] + }, + { + "gard_id": "GARD:0005973", + "name": "Burkitt lymphoma", + "synonyms": [ + "Burkitt's lymphoma", + "BL" + ] + }, + { + "gard_id": "GARD:0005975", + "name": "Scleredema", + "synonyms": [ + "Scleredema adultorum", + "Scleredema adultorum of Buschke", + "Scleredema diabeticorum", + "Scleredema diabeticorum of Buschke", + "Buschke's scleredema" + ] + }, + { + "gard_id": "GARD:0005976", + "name": "Byssinosis", + "synonyms": [ + "Monday morning fever" + ] + }, + { + "gard_id": "GARD:0005978", + "name": "C syndrome", + "synonyms": [ + "Opitz trigonocephaly syndrome", + "Trigonocephaly C syndrome", + "Trigonocephaly syndrome" + ] + }, + { + "gard_id": "GARD:0005979", + "name": "Hereditary angioedema", + "synonyms": [ + "HAE", + "Hereditary angioneurotic edema", + "HANE", + "Deficiency of C1 esterase inhibitor", + "Hereditary angioedema type 1", + "Angioedema, hereditary" + ] + }, + { + "gard_id": "GARD:0005980", + "name": "Calciphylaxis", + "synonyms": [ + "Idiopathic calciphylaxis" + ] + }, + { + "gard_id": "GARD:0005984", + "name": "Canavan disease", + "synonyms": [ + "Canavan-van Bogaert-Bertrand disease", + "Spongy degeneration of the central nervous system", + "Von Bogaert-Bertrand disease", + "Aspartoacylase deficiency", + "ASPA deficiency", + "ASP deficiency", + "ACY2 deficiency", + "Aminoacylase 2 deficiency" + ] + }, + { + "gard_id": "GARD:0005993", + "name": "Osteopetrosis autosomal recessive 4", + "synonyms": [ + "OPTB4", + "Autosomal recessive osteopetrosis type 4", + "Osteopetrosis infantile malignant 2" + ] + }, + { + "gard_id": "GARD:0005994", + "name": "Carcinoid syndrome", + "synonyms": [ + "Carcinoid tumor syndrome" + ] + }, + { + "gard_id": "GARD:0005996", + "name": "Carcinoma of the vocal tract", + "synonyms": null + }, + { + "gard_id": "GARD:0005999", + "name": "Cardiospasm", + "synonyms": null + }, + { + "gard_id": "GARD:0006001", + "name": "Carnosinemia", + "synonyms": [ + "Carnosinase deficiency" + ] + }, + { + "gard_id": "GARD:0006002", + "name": "Caroli disease", + "synonyms": [ + "Congenital polycystic dilatation of intrahepatic bile ducts", + "Caroli disease isolated", + "Cystic dilatation of the intrahepatic biliary tree" + ] + }, + { + "gard_id": "GARD:0006003", + "name": "Carpenter syndrome", + "synonyms": [ + "Acrocephalopolysyndactyly type 2", + "ACPS 2", + "Acrocephalosyndactyly, type II", + "Carpenter syndrome 1", + "CRPT1" + ] + }, + { + "gard_id": "GARD:0006004", + "name": "Cartilaginous cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0006005", + "name": "Unicentric Castleman disease", + "synonyms": [ + "Unicentric angiofollicular ganglionic hyperplasia", + "Unicentric angiofollicular lymph hyperplasia", + "Localized Castleman disease" + ] + }, + { + "gard_id": "GARD:0006007", + "name": "Caudal regression sequence", + "synonyms": [ + "Caudal dysplasia", + "Sacral agenesis syndrome", + "Sacral regression syndrome", + "Sacral agenesis", + "Sacral defect with anterior meningocele", + "Caudal regression syndrome" + ] + }, + { + "gard_id": "GARD:0006010", + "name": "Cavernous lymphangioma", + "synonyms": null + }, + { + "gard_id": "GARD:0006011", + "name": "Bilateral perisylvian polymicrogyria", + "synonyms": [ + "Perisylvian syndrome", + "Polymicrogyria, bilateral perisylvian", + "Congenital bilateral perisylvian syndrome", + "CBPS", + "Perisylvian syndrome, congenital bilateral", + "PMGX" + ] + }, + { + "gard_id": "GARD:0006014", + "name": "Central core disease", + "synonyms": [ + "CCD", + "CCO", + "Central core disease of muscle", + "Muscle core disease", + "Muscular central core disease", + "Myopathy, central fibrillar", + "Myopathy, central core", + "Shy-Magee syndrome" + ] + }, + { + "gard_id": "GARD:0006015", + "name": "Central diabetes insipidus", + "synonyms": [ + "Diabetes insipidus neurogenic", + "Neurohypophyseal diabetes insipidus", + "Pituitary diabetes insipidus", + "Diabetes insipidus neurohypophyseal", + "Diabetes insipidus cranial type", + "Neurogenic diabetes insipidus" + ] + }, + { + "gard_id": "GARD:0006019", + "name": "Cerebellar degeneration", + "synonyms": null + }, + { + "gard_id": "GARD:0006025", + "name": "Cerebral ventricle cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0006026", + "name": "Cerebro-costo-mandibular syndrome", + "synonyms": [ + "Cerebrocostomandibular syndrome", + "CCMS", + "CCM syndrome", + "Rib gap defects with micrognathia" + ] + }, + { + "gard_id": "GARD:0006027", + "name": "Cerebro-oculo-facio-skeletal syndrome", + "synonyms": [ + "COFS syndrome", + "Pena-Shokeir syndrome type 2" + ] + }, + { + "gard_id": "GARD:0006033", + "name": "Chandler's syndrome", + "synonyms": [ + "Chandler syndrome" + ] + }, + { + "gard_id": "GARD:0006034", + "name": "Charcot-Marie-Tooth disease", + "synonyms": [ + "CMT", + "Hereditary motor and sensory neuropathy", + "HMSN", + "Charcot Marie Tooth disease" + ] + }, + { + "gard_id": "GARD:0006035", + "name": "Chediak-Higashi syndrome", + "synonyms": [ + "Chediak Higashi syndrome", + "CHS" + ] + }, + { + "gard_id": "GARD:0006036", + "name": "Cherubism", + "synonyms": [ + "CRBM" + ] + }, + { + "gard_id": "GARD:0006037", + "name": "Chiari-Frommel syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0006038", + "name": "Chikungunya", + "synonyms": [ + "Chikungunya fever", + "Chikungunya virus infection", + "Arbovirus A Chikungunya type", + "CHIKV infection", + "CHIK", + "CK" + ] + }, + { + "gard_id": "GARD:0006039", + "name": "CHILD syndrome", + "synonyms": [ + "Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects", + "Ichthyosis, CHILD syndrome" + ] + }, + { + "gard_id": "GARD:0006040", + "name": "Childhood disintegrative disorder", + "synonyms": null + }, + { + "gard_id": "GARD:0006042", + "name": "Intrahepatic cholangiocarcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0006043", + "name": "Cholera", + "synonyms": [ + "Vibrio cholerae infection" + ] + }, + { + "gard_id": "GARD:0006047", + "name": "Chondroblastoma", + "synonyms": null + }, + { + "gard_id": "GARD:0006048", + "name": "Chondrocalcinosis 1", + "synonyms": [ + "CCAL1", + "Chondrocalcinosis with early-onset osteoarthritis" + ] + }, + { + "gard_id": "GARD:0006049", + "name": "Rhizomelic chondrodysplasia punctata type 1", + "synonyms": [ + "RCDP1" + ] + }, + { + "gard_id": "GARD:0006050", + "name": "Chondrodysplasia punctata with steroid sulfatase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0006051", + "name": "Chondrodystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0006052", + "name": "Chondroma", + "synonyms": null + }, + { + "gard_id": "GARD:0006054", + "name": "Synovial Chondromatosis", + "synonyms": [ + "Synovial osteochondromatosis" + ] + }, + { + "gard_id": "GARD:0006055", + "name": "Chondrosarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0006059", + "name": "Choriocarcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0006060", + "name": "Chorioretinitis", + "synonyms": null + }, + { + "gard_id": "GARD:0006061", + "name": "Choroideremia", + "synonyms": [ + "CHM", + "Progressive tapetochoroidal dystrophy", + "TCD" + ] + }, + { + "gard_id": "GARD:0006062", + "name": "Choroiditis", + "synonyms": null + }, + { + "gard_id": "GARD:0006064", + "name": "Chromophobe renal cell carcinoma", + "synonyms": [ + "CRCC", + "ChRCC" + ] + }, + { + "gard_id": "GARD:0006065", + "name": "Chromosomal triplication", + "synonyms": null + }, + { + "gard_id": "GARD:0006068", + "name": "Chromosome 12p deletion", + "synonyms": [ + "Deletion 12p", + "Monosomy 12p", + "12p deletion", + "12p monosomy", + "Partial monosomy 12p" + ] + }, + { + "gard_id": "GARD:0006069", + "name": "Ring chromosome 13", + "synonyms": [ + "Chromosome 13 ring", + "Ring 13", + "R13" + ] + }, + { + "gard_id": "GARD:0006072", + "name": "Ring chromosome 14", + "synonyms": [ + "Chromosome 14 ring", + "Ring 14", + "Ring chromosome 14 syndrome" + ] + }, + { + "gard_id": "GARD:0006075", + "name": "Chromosome 17p deletion", + "synonyms": [ + "Deletion 17p", + "Monosomy 17p", + "17p deletion", + "17p monosomy", + "Partial monosomy 17p" + ] + }, + { + "gard_id": "GARD:0006077", + "name": "Ring chromosome 18", + "synonyms": [ + "Chromosome 18 ring", + "Ring 18", + "R18" + ] + }, + { + "gard_id": "GARD:0006082", + "name": "Chromosome 1p36 deletion syndrome", + "synonyms": [ + "1p36 deletion syndrome", + "Monosomy 1p36 syndrome" + ] + }, + { + "gard_id": "GARD:0006083", + "name": "Ring chromosome 21", + "synonyms": [ + "Chromosome 21 ring", + "Ring 21", + "R21" + ] + }, + { + "gard_id": "GARD:0006085", + "name": "Mosaic trisomy 22", + "synonyms": [ + "Mosaic trisomy chromosome 22", + "Trisomy 22 mosaicism" + ] + }, + { + "gard_id": "GARD:0006090", + "name": "Chromosome 4p deletion", + "synonyms": [ + "Deletion 4p", + "Monosomy 4p", + "4p deletion", + "4p monosomy", + "Partial monosomy 4p" + ] + }, + { + "gard_id": "GARD:0006091", + "name": "Chromosome 4p duplication", + "synonyms": [ + "Duplication 4p", + "Trisomy 4p", + "4p duplication", + "4p trisomy", + "Partial trisomy 4p" + ] + }, + { + "gard_id": "GARD:0006093", + "name": "Chromosome 5p duplication", + "synonyms": [ + "Duplication 5p", + "Trisomy 5p", + "5p duplication", + "5p trisomy", + "Partial trisomy 5p" + ] + }, + { + "gard_id": "GARD:0006095", + "name": "Ring chromosome 6", + "synonyms": [ + "Chromosome 6 ring", + "Ring 6", + "R6" + ] + }, + { + "gard_id": "GARD:0006099", + "name": "Chronic erosive gastritis", + "synonyms": [ + "Idiopathic chronic, erosive gastritis", + "Varioliform gastritis" + ] + }, + { + "gard_id": "GARD:0006100", + "name": "Chronic granulomatous disease", + "synonyms": [ + "Granulomatous disease, chronic" + ] + }, + { + "gard_id": "GARD:0006102", + "name": "Chronic inflammatory demyelinating polyneuropathy", + "synonyms": [ + "CIDP", + "Chronic Inflammatory Demyelinating Polyradiculoneuropathy" + ] + }, + { + "gard_id": "GARD:0006104", + "name": "Chronic lymphocytic leukemia", + "synonyms": [ + "Leukemia, lymphocytic, chronic", + "Chronic B-Cell Lymphocytic Leukemia", + "B Cell Chronic Lymphocytic Leukemia" + ] + }, + { + "gard_id": "GARD:0006105", + "name": "Chronic myeloid leukemia", + "synonyms": [ + "Chronic granulocytic leukemia", + "Chronic myelogenous leukemia", + "CML", + "Leukemia, chronic myeloid" + ] + }, + { + "gard_id": "GARD:0006107", + "name": "Neutropenia lethal congenital with eosinophilia", + "synonyms": [ + "Lethal congenital neutropenia with eosinophilia" + ] + }, + { + "gard_id": "GARD:0006108", + "name": "Chronic recurrent multifocal osteomyelitis", + "synonyms": [ + "CRMO", + "Multifocal osteomyelitis, chronic", + "Chronic multifocal osteomyelitis", + "CMO", + "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis", + "CNO/CRMO" + ] + }, + { + "gard_id": "GARD:0006111", + "name": "Eosinophilic granulomatosis with polyangiitis", + "synonyms": [ + "CSS", + "Allergic granulomatous and angiitis", + "Allergic angiitis and granulomatosis", + "Allergic granulomatosis", + "Churg-Strauss vasculitis", + "Granulomatous allergic angiitis", + "Churg-Strauss syndrome", + "EGPA" + ] + }, + { + "gard_id": "GARD:0006113", + "name": "Ciguatera fish poisoning", + "synonyms": [ + "Ciguatera poisoning" + ] + }, + { + "gard_id": "GARD:0006114", + "name": "Citrullinemia type I", + "synonyms": [ + "Classic citrullinemia", + "Argininosuccinate synthetase deficiency", + "CTNL1", + "Citrullinuria", + "ASS deficiency", + "Citrullinemia 1" + ] + }, + { + "gard_id": "GARD:0006118", + "name": "Cleidocranial dysplasia", + "synonyms": [ + "CLCD", + "Cleidocranial dysostosis", + "Dysplasia cleidocranial", + "Marie-Sainton disease" + ] + }, + { + "gard_id": "GARD:0006121", + "name": "Coats disease", + "synonyms": [ + "Retinal telangiectasis", + "Leber miliary aneurysm" + ] + }, + { + "gard_id": "GARD:0006122", + "name": "Cockayne syndrome", + "synonyms": [ + "Cockayne's syndrome", + "Dwarfism-retinal atrophy-deafness syndrome", + "Progeria-like syndrome", + "Progeroid nanism" + ] + }, + { + "gard_id": "GARD:0006123", + "name": "Coffin-Lowry syndrome", + "synonyms": [ + "Mental retardation with osteocartilaginous abnormalities", + "CLS", + "Coffin syndrome" + ] + }, + { + "gard_id": "GARD:0006124", + "name": "Coffin-Siris syndrome", + "synonyms": [ + "Fifth digit syndrome", + "Intellectual disability with absent fifth fingernail and terminal phalanx" + ] + }, + { + "gard_id": "GARD:0006125", + "name": "Cogan-Reese syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0006126", + "name": "Cohen syndrome", + "synonyms": [ + "COH1", + "Pepper syndrome", + "Hypotonia, obesity, and prominent incisors" + ] + }, + { + "gard_id": "GARD:0006130", + "name": "Cold agglutinin disease", + "synonyms": [ + "Anemia, hemolytic, cold antibody", + "Cold antibody hemolytic anemia", + "Cold antibody disease", + "CAD" + ] + }, + { + "gard_id": "GARD:0006131", + "name": "Cold urticaria", + "synonyms": [ + "Cold contact urticaria", + "Primary idiopathic cold urticaria", + "Urticaria idiopathic cold" + ] + }, + { + "gard_id": "GARD:0006137", + "name": "Colonic malakoplakia", + "synonyms": null + }, + { + "gard_id": "GARD:0006140", + "name": "Common variable immunodeficiency", + "synonyms": [ + "CVID", + "Common variable hypogamma-globulinemia", + "Hypogamma-globulinemia, acquired", + "Immunoglobulin deficiency, late-onset", + "Common variable immune deficiency", + "Idiopathic immunoglobulin deficiency", + "Primary antibody deficiency", + "Primary hypogammaglobulinemia" + ] + }, + { + "gard_id": "GARD:0006141", + "name": "Compartment syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0006145", + "name": "Cone-rod dystrophy 2", + "synonyms": [ + "CORD2", + "Cone-rod retinal dystrophy 2", + "CRD2", + "Retinal cone-rod dystrophy 2", + "RCRD2" + ] + }, + { + "gard_id": "GARD:0006148", + "name": "Hereditary antithrombin deficiency", + "synonyms": [ + "Congenital AT-III deficiency", + "Antithrombin III Deficiency", + "Congenital Antithrombin III Deficiency", + "Thrombophilia due to antithrombin III deficiency", + "Inherited antithrombin deficiency", + "Hereditary thrombophilia due to congenital antithrombin deficiency", + "Hereditary thrombophilia due to congenital antithrombin 3 deficiency" + ] + }, + { + "gard_id": "GARD:0006149", + "name": "Congenital aplastic anemia", + "synonyms": null + }, + { + "gard_id": "GARD:0006150", + "name": "Congenital arteriovenous shunt", + "synonyms": null + }, + { + "gard_id": "GARD:0006154", + "name": "Congenital cardiovascular shunt", + "synonyms": null + }, + { + "gard_id": "GARD:0006161", + "name": "Congenital fiber type disproportion", + "synonyms": [ + "Congenital fiber-type disproportion myopathy", + "Myopathy, congenital with fiber-type disproportion", + "CFTDM", + "Fiber-type disproportion myopathy, congenital" + ] + }, + { + "gard_id": "GARD:0006164", + "name": "Congenital heart block", + "synonyms": [ + "Heart block congenital" + ] + }, + { + "gard_id": "GARD:0006167", + "name": "Congenital hemolytic anemia", + "synonyms": [ + "Anemia hemolytic congenital" + ] + }, + { + "gard_id": "GARD:0006168", + "name": "Congenital hepatic fibrosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006169", + "name": "Hepatoerythropoietic porphyria", + "synonyms": [ + "HEP" + ] + }, + { + "gard_id": "GARD:0006177", + "name": "Congenital nonhemolytic jaundice", + "synonyms": null + }, + { + "gard_id": "GARD:0006187", + "name": "Ligneous conjunctivitis", + "synonyms": [ + "Conjunctivitis lignosa" + ] + }, + { + "gard_id": "GARD:0006189", + "name": "X-linked dominant chondrodysplasia punctata 2", + "synonyms": [ + "CDPX2", + "CDPXD", + "CPXD", + "Conradi Hunermann syndrome", + "Happle syndrome", + "Conrad Hunermann Happle syndrome", + "Chondrodysplasia punctata, x-linked dominant" + ] + }, + { + "gard_id": "GARD:0006191", + "name": "Conversion disorder", + "synonyms": [ + "Functional neurological disorder", + "FND", + "Functional movement disorder" + ] + }, + { + "gard_id": "GARD:0006193", + "name": "Cor biloculare", + "synonyms": null + }, + { + "gard_id": "GARD:0006194", + "name": "Cor triatriatum", + "synonyms": [ + "Triatrial heart" + ] + }, + { + "gard_id": "GARD:0006196", + "name": "Corneal endothelial dystrophy type 2", + "synonyms": [ + "CHED2", + "Corneal dystrophy, congenital hereditary endothelial", + "Congenital hereditary endothelial dystrophy of the cornea", + "Maumenee corneal dystrophy" + ] + }, + { + "gard_id": "GARD:0006200", + "name": "Coronary artery aneurysm", + "synonyms": null + }, + { + "gard_id": "GARD:0006202", + "name": "Cowden syndrome", + "synonyms": [ + "Cowden disease", + "CD", + "Cowden's disease", + "CS", + "Multiple hamartoma syndrome", + "MHAM" + ] + }, + { + "gard_id": "GARD:0006205", + "name": "Cramp-fasciculation syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0006206", + "name": "Crouzon syndrome", + "synonyms": [ + "Craniofacial dysostosis type 1", + "CFD1", + "Crouzon craniofacial dysostosis", + "Crouzon disease" + ] + }, + { + "gard_id": "GARD:0006209", + "name": "Craniosynostosis", + "synonyms": [ + "Craniostenosis", + "CSO" + ] + }, + { + "gard_id": "GARD:0006213", + "name": "Cri du chat syndrome", + "synonyms": [ + "Cat cry syndrome", + "5p minus syndrome", + "Chromosome 5p deletion syndrome", + "5p- syndrome", + "Monosomy 5p", + "5p deletion syndrome", + "Chromosome 5p- syndrome" + ] + }, + { + "gard_id": "GARD:0006217", + "name": "Simple cryoglobulinemia", + "synonyms": [ + "Cryoglobulinemia type 1" + ] + }, + { + "gard_id": "GARD:0006218", + "name": "Cryptococcosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006219", + "name": "Cryptosporidiosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006224", + "name": "Cushing's syndrome", + "synonyms": [ + "Cushing syndrome", + "Hypercortisolism", + "Nodular primary adrenocortical dysplasia", + "Adrenal cortex adenoma", + "Adrenal hyperfunction resulting from pituitary acth excess", + "Ectopic ACTH syndrome", + "Ectopic adrenocorticotropic hormone syndrome", + "Hyperadrenocorticism" + ] + }, + { + "gard_id": "GARD:0006225", + "name": "Cutaneous lupus erythematosus", + "synonyms": [ + "Lupus erythematosus, cutaneous" + ] + }, + { + "gard_id": "GARD:0006226", + "name": "Cutaneous T-cell lymphoma", + "synonyms": [ + "CTCL" + ] + }, + { + "gard_id": "GARD:0006227", + "name": "Cutis laxa", + "synonyms": [ + "Generalized elastolysis" + ] + }, + { + "gard_id": "GARD:0006228", + "name": "Cutis marmorata telangiectatica congenita", + "synonyms": [ + "CMTC", + "Hereditary cutis marmorata telangiectatica congenita", + "Van Lohuizen syndrome" + ] + }, + { + "gard_id": "GARD:0006229", + "name": "Cyclic neutropenia", + "synonyms": [ + "Neutropenia cyclic", + "Cyclic hematopoiesis" + ] + }, + { + "gard_id": "GARD:0006232", + "name": "Cystic adenomatoid malformation of lung", + "synonyms": [ + "Congenital cystic adenomatoid malformation", + "Congenital pulmonary airway malformation" + ] + }, + { + "gard_id": "GARD:0006233", + "name": "Cystic fibrosis", + "synonyms": [ + "Mucoviscidosis", + "CF" + ] + }, + { + "gard_id": "GARD:0006234", + "name": "Cystic hygroma", + "synonyms": [ + "Macrocystic lymphatic malformation", + "Cystic lymphangioma" + ] + }, + { + "gard_id": "GARD:0006236", + "name": "Cystinosis", + "synonyms": [ + "Cystine diathesis", + "Cystine disease", + "Cystine storage disease", + "Cystinoses" + ] + }, + { + "gard_id": "GARD:0006237", + "name": "Cystinuria", + "synonyms": [ + "CSNU", + "Cystinuria-lysinuria" + ] + }, + { + "gard_id": "GARD:0006240", + "name": "D-minus hemolytic uremic syndrome (D-HUS)", + "synonyms": null + }, + { + "gard_id": "GARD:0006241", + "name": "D-plus hemolytic uremic syndrome (D+HUS)", + "synonyms": null + }, + { + "gard_id": "GARD:0006242", + "name": "Dandy-Walker complex", + "synonyms": [ + "DW complex", + "Dandy-Walker syndrome or malformation (type of DW complex)", + "Dandy-Walker variant (type of DW complex)", + "Mega cisterna magna (type of DW complex)" + ] + }, + { + "gard_id": "GARD:0006243", + "name": "Darier disease", + "synonyms": [ + "Darier White Disease", + "Darier's disease", + "Keratosis follicularis" + ] + }, + { + "gard_id": "GARD:0006249", + "name": "Malignant Atrophic Papulosis", + "synonyms": [ + "Degos's malignant atrophic papulosis", + "Atrophic papulosis, malignant", + "Kohlmeier-Degos disease", + "Degos disease", + "Köhlmeier-Degos-Delort-Tricort syndrome", + "Köhlmeier-Degos disease", + "Papulosis atrophican maligna" + ] + }, + { + "gard_id": "GARD:0006254", + "name": "Dengue fever", + "synonyms": [ + "Dengue hemorrhagic fever", + "Dengue shock syndrome", + "Philippine hemorrhagic fever", + "Thai hemorrhagic fever", + "Singapore hemorrhagic fever", + "Hemorrhagic dengue", + "Dengue virus infection", + "DF" + ] + }, + { + "gard_id": "GARD:0006256", + "name": "Calcifying Epithelial Odontogenic Tumor", + "synonyms": [ + "CEOT", + "Pindborg tumor" + ] + }, + { + "gard_id": "GARD:0006258", + "name": "Dentinogenesis imperfecta ", + "synonyms": [ + "Dentinogenesis imperfecta without osteogenesis imperfecta", + "Capdepont teeth" + ] + }, + { + "gard_id": "GARD:0006260", + "name": "Depersonalization/derealization disorder", + "synonyms": [ + "Depersonalization disorder" + ] + }, + { + "gard_id": "GARD:0006263", + "name": "Dermatomyositis", + "synonyms": [ + "Adult dermatomyositis" + ] + }, + { + "gard_id": "GARD:0006265", + "name": "Desmoplastic small round cell tumor", + "synonyms": [ + "Desmoplastic small round-cell tumor", + "DSRCT" + ] + }, + { + "gard_id": "GARD:0006267", + "name": "Neuromyelitis optica spectrum disorder", + "synonyms": [ + "Devic syndrome", + "NMO", + "Devic's neuromyelitis optica", + "Devic disease", + "NMO spectrum disorder", + "Neuromyelitis optica", + "Neuromyelitis optica spectrum disorders" + ] + }, + { + "gard_id": "GARD:0006268", + "name": "Dextrocardia with situs inversus", + "synonyms": [ + "Situs inversus totalis" + ] + }, + { + "gard_id": "GARD:0006274", + "name": "Diamond-Blackfan anemia", + "synonyms": [ + "DBA", + "Anemia Diamond Blackfan type", + "Blackfan Diamond syndrome", + "BDS", + "Anemia congenital erythroid hypoplastic", + "Aregenerative anemia chronic congenital", + "Erythrogenesis imperfecta", + "Red cell aplasia, pure hereditary", + "Congenital hypoplastic anemia", + "Aase-Smith II syndrome", + "Congenital PRCA", + "Congenital hypoplastic anemia, Blackfan-Diamond type", + "Congenital pure red cell aplasia", + "Aase syndrome", + "Blackfan-Diamond anemia" + ] + }, + { + "gard_id": "GARD:0006275", + "name": "Diastrophic dysplasia", + "synonyms": [ + "DTD", + "DD", + "Diastrophic dwarfism" + ] + }, + { + "gard_id": "GARD:0006276", + "name": "Diencephalic syndrome", + "synonyms": [ + "Diencephalic cachexia", + "Diencephalic syndrome of childhood", + "Diencephalic syndrome of emaciation", + "Russell diencephalic cachexia", + "Russell syndrome" + ] + }, + { + "gard_id": "GARD:0006285", + "name": "Doxorubicin induced cardiomyopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0006286", + "name": "Dracunculiasis", + "synonyms": [ + "Guinea worm disease", + "GWD", + "Parasitic infection caused by Dracunculus medinensis", + "Guinea worm infection" + ] + }, + { + "gard_id": "GARD:0006288", + "name": "Duane syndrome", + "synonyms": [ + "Duane anomaly", + "Duane retraction syndrome", + "DRS", + "Stilling-Turk-Duane syndrome" + ] + }, + { + "gard_id": "GARD:0006289", + "name": "Dubin-Johnson syndrome", + "synonyms": [ + "DJS", + "Hyperbilirubinemia 2", + "Chronic Idiopathic Jaundice", + "Conjugated Hyperbilirubinemia" + ] + }, + { + "gard_id": "GARD:0006290", + "name": "Dubowitz syndrome", + "synonyms": [ + "Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci", + "Dwarfism-eczema-peculiar facies syndrome" + ] + }, + { + "gard_id": "GARD:0006291", + "name": "Duchenne muscular dystrophy", + "synonyms": [ + "Muscular dystrophy, Duchenne", + "DMD", + "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type" + ] + }, + { + "gard_id": "GARD:0006294", + "name": "Dwarfism Levi type", + "synonyms": [ + "Snub-nosed type of dwarfism", + "Dwarfism Levi's type" + ] + }, + { + "gard_id": "GARD:0006295", + "name": "Dyggve-Melchior-Clausen syndrome", + "synonyms": [ + "Dyggve-Melchior-Clausen disease", + "DMC syndrome" + ] + }, + { + "gard_id": "GARD:0006299", + "name": "Dyskeratosis congenita autosomal dominant", + "synonyms": [ + "Autosomal dominant dyskeratosis congenita", + "DKCA", + "Dyskeratosis congenita Scoggins type" + ] + }, + { + "gard_id": "GARD:0006300", + "name": "Dyskeratosis congenita autosomal recessive", + "synonyms": [ + "Autosomal recessive dyskeratosis congenita", + "DKCB" + ] + }, + { + "gard_id": "GARD:0006308", + "name": "Severe generalized recessive dystrophic epidermolysis bullosa", + "synonyms": [ + "Recessive dystrophic epidermolysis bullosa, severe generalized", + "RDEB, severe generalized", + "RDEB-sev gen", + "Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)", + "Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis", + "Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type", + "RDEB generalisata gravis", + "RDEB, Hallopeau-Siemens type", + "Severe generalized RDEB" + ] + }, + { + "gard_id": "GARD:0006309", + "name": "Eales disease", + "synonyms": [ + "Idiopathic obliterative vasculopathy", + "Idiopathic recurrent vitreal hemorrhage" + ] + }, + { + "gard_id": "GARD:0006313", + "name": "Ebstein's anomaly", + "synonyms": [ + "Ebstein's malformation", + "Ebstein anomaly" + ] + }, + { + "gard_id": "GARD:0006314", + "name": "Eccentrochondrodysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0006316", + "name": "Eclampsia", + "synonyms": null + }, + { + "gard_id": "GARD:0006317", + "name": "Ectodermal dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0006318", + "name": "Ectopic pregnancy", + "synonyms": null + }, + { + "gard_id": "GARD:0006319", + "name": "Split hand foot malformation", + "synonyms": [ + "SHFM", + "Ectrodactyly" + ] + }, + { + "gard_id": "GARD:0006321", + "name": "Trisomy 18", + "synonyms": [ + "Chromosome 18 trisomy", + "18 trisomy", + "Edwards syndrome", + "Trisomy 16-18 (formerly)", + "Trisomy E (formerly)" + ] + }, + { + "gard_id": "GARD:0006322", + "name": "Ehlers-Danlos syndromes", + "synonyms": [ + "ED syndrome", + "EDS", + "Ehlers Danlos syndrome" + ] + }, + { + "gard_id": "GARD:0006323", + "name": "Eisenmenger syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0006324", + "name": "Elective mutism", + "synonyms": [ + "Selective mutism" + ] + }, + { + "gard_id": "GARD:0006329", + "name": "Emery-Dreifuss muscular dystrophy", + "synonyms": [ + "EDMD", + "Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures", + "Scapuloperoneal syndrome, X-linked (formerly)", + "Humeroperoneal neuromuscular disease, (formerly)" + ] + }, + { + "gard_id": "GARD:0006331", + "name": "Empty sella syndrome", + "synonyms": [ + "Empty sella turcica" + ] + }, + { + "gard_id": "GARD:0006332", + "name": "Encephalitis lethargica", + "synonyms": [ + "Von Economo’s disease", + "Von Economo encephalitis" + ] + }, + { + "gard_id": "GARD:0006333", + "name": "Encephalocele", + "synonyms": [ + "Bifid cranium", + "Cephalocele", + "Craniocele", + "Cranium bifidum" + ] + }, + { + "gard_id": "GARD:0006335", + "name": "Enchondroma", + "synonyms": null + }, + { + "gard_id": "GARD:0006336", + "name": "Endocardial fibroelastosis", + "synonyms": [ + "Endomyocardial fibroelastosis" + ] + }, + { + "gard_id": "GARD:0006337", + "name": "Infective endocarditis", + "synonyms": [ + "Endocarditis, infective" + ] + }, + { + "gard_id": "GARD:0006339", + "name": "Endometrial stromal sarcoma", + "synonyms": [ + "ESS" + ] + }, + { + "gard_id": "GARD:0006340", + "name": "Endomyocardial fibrosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006343", + "name": "Enteropathica", + "synonyms": null + }, + { + "gard_id": "GARD:0006345", + "name": "Eosinophilia-myalgia syndrome", + "synonyms": [ + "EMS", + "L-tryptophan induced EMS", + "Syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart", + "Severe muscle pain and abnormally high eosinophils" + ] + }, + { + "gard_id": "GARD:0006346", + "name": "Eosinophilic cryptitis", + "synonyms": null + }, + { + "gard_id": "GARD:0006347", + "name": "Eosinophilic cystitis", + "synonyms": null + }, + { + "gard_id": "GARD:0006351", + "name": "Eosinophilic fasciitis", + "synonyms": [ + "Shulman syndrome", + "EF" + ] + }, + { + "gard_id": "GARD:0006352", + "name": "Embryonal tumor with multilayered rosettes", + "synonyms": [ + "Neuroectodermal tumors primitive", + "Ependymoblastoma", + "ETMR", + "Embryonal tumor with abundant neuropil and true rosettes", + "ETANTR" + ] + }, + { + "gard_id": "GARD:0006353", + "name": "Ependymoma", + "synonyms": [ + "Ependymoma, familial", + "Clear cell ependymoma (histologic variant)", + "Papillary ependymoma (histologic variant)", + "Cellular ependymoma (histologic variant)", + "Tanycytic ependymoma (histologic variant)", + "Epithelial ependymoma", + "WHO Grade II Ependymal Neoplasm", + "Classic ependymoma" + ] + }, + { + "gard_id": "GARD:0006355", + "name": "Venezuelan equine encephalitis", + "synonyms": null + }, + { + "gard_id": "GARD:0006357", + "name": "Epidermodysplasia verruciformis", + "synonyms": [ + "Lewandowsky-Lutz syndrome", + "Lutz-Lewandowsky epidermodysplasia verruciformis" + ] + }, + { + "gard_id": "GARD:0006359", + "name": "Epidermolysis bullosa", + "synonyms": [ + "EB" + ] + }, + { + "gard_id": "GARD:0006360", + "name": "Epidermolysis bullosa acquisita", + "synonyms": [ + "EB acquisita", + "EBA", + "Acquired epidermolysis bullosa" + ] + }, + { + "gard_id": "GARD:0006364", + "name": "Epithelial-myoepithelial carcinoma", + "synonyms": [ + "Epithelial myoepithelial carcinoma", + "EMC", + "Adenomyo-epithelioma", + "Clear cell adenoma", + "Tubular solid adenoma", + "Monomorphic clear cell tumor", + "Glycogen-rich adenoma", + "Glycogen-rich adenocarcinoma", + "Clear cell carcinoma" + ] + }, + { + "gard_id": "GARD:0006369", + "name": "Erdheim-Chester disease", + "synonyms": [ + "ECD", + "Erdheim Chester disease", + "Lipoid granulomatosis" + ] + }, + { + "gard_id": "GARD:0006370", + "name": "Erysipelas", + "synonyms": null + }, + { + "gard_id": "GARD:0006372", + "name": "Erythema multiforme", + "synonyms": [ + "EM", + "Erythema polymorphe, erythema multiforme type", + "Erythema multiforme bullosum", + "Dermatostomatitis, erythema multiforme type", + "Febrile mucocutaneous syndrome", + "Herpes iris, erythema multiforme type" + ] + }, + { + "gard_id": "GARD:0006377", + "name": "Erythromelalgia", + "synonyms": [ + "Primary erythermalgia", + "Mitchell disease (formerly)", + "Primary erythromelalgia" + ] + }, + { + "gard_id": "GARD:0006378", + "name": "Erythroplakia", + "synonyms": null + }, + { + "gard_id": "GARD:0006381", + "name": "Esophageal atresia", + "synonyms": null + }, + { + "gard_id": "GARD:0006383", + "name": "Esophageal cancer", + "synonyms": [ + "Esophagus cancer" + ] + }, + { + "gard_id": "GARD:0006384", + "name": "Esophageal varices", + "synonyms": null + }, + { + "gard_id": "GARD:0006386", + "name": "Cryoglobulinemic vasculitis", + "synonyms": [ + "Familial mixed cryoglobulinemia", + "Mixed cryoglobulinemia", + "Essential cryoglobulinemia", + "Primary cryoglobulinemia", + "Essential mixed cryoglobulinemia", + "Meltzer syndrome" + ] + }, + { + "gard_id": "GARD:0006389", + "name": "Evans syndrome", + "synonyms": [ + "Autoimmune hemolytic anemia and autoimmune thrombocytopenia", + "Evan syndrome" + ] + }, + { + "gard_id": "GARD:0006390", + "name": "Ewing sarcoma", + "synonyms": [ + "Ewing's tumor", + "Sarcoma, Ewing's", + "Ewing tumor", + "Ewing's sarcoma" + ] + }, + { + "gard_id": "GARD:0006392", + "name": "Exercise-induced anaphylaxis", + "synonyms": null + }, + { + "gard_id": "GARD:0006393", + "name": "Exfoliative dermatitis", + "synonyms": null + }, + { + "gard_id": "GARD:0006394", + "name": "Exogenous lipoid pneumonia", + "synonyms": [ + "Pneumonia lipid" + ] + }, + { + "gard_id": "GARD:0006398", + "name": "Exstrophy of the bladder", + "synonyms": [ + "Bladder exstrophy" + ] + }, + { + "gard_id": "GARD:0006400", + "name": "Fabry disease", + "synonyms": [ + "Angiokeratoma, diffuse", + "Anderson-Fabry disease", + "Hereditary dystopic lipidosis", + "Alpha-galactosidase A deficiency", + "GLA deficiency", + "Angiokeratoma corporis diffusum", + "Ceramide trihexosidase deficiency" + ] + }, + { + "gard_id": "GARD:0006404", + "name": "Factor X deficiency", + "synonyms": [ + "Factor X deficiency, congenital", + "Stuart factor deficiency, congenital", + "Stuart-Prower factor deficiency", + "F10 deficiency" + ] + }, + { + "gard_id": "GARD:0006405", + "name": "Acquired hemophilia A", + "synonyms": [ + "Acquired factor 8 deficiency", + "Acquired factor VII deficiency" + ] + }, + { + "gard_id": "GARD:0006406", + "name": "Primary Familial Brain Calcification", + "synonyms": [ + "FIBGC (formerly)", + "Idiopathic basal ganglia calcification 1", + "Fahr's Syndrome (formerly)", + "Bilateral striopallidodentate calcinosis", + "BSPDC", + "Cerebral calcification nonarteriosclerotic idiopathic adult-onset", + "Striopallidodentate calcinosis autosomal dominant adult-onset", + "Ferrocalcinosis, cerebrovascular", + "Fahr disease, familial (formerly)", + "Primary familial brain calcification", + "Familial idiopathic basal ganglia calcification (formerly)" + ] + }, + { + "gard_id": "GARD:0006408", + "name": "Familial adenomatous polyposis", + "synonyms": [ + "Adenomatous polyposis coli", + "FAP", + "Familial adenomatous polyposis of the colon", + "Familial polyposis of the colon", + "Polyposis, adenomatous intestinal", + "FPC", + "Adenomatous polyposis of the colon", + "Familial intestinal polyposis", + "Familial multiple polyposis", + "Hereditary polyposis coli", + "Familial polyposis coli" + ] + }, + { + "gard_id": "GARD:0006410", + "name": "Familial deafness", + "synonyms": null + }, + { + "gard_id": "GARD:0006414", + "name": "Familial chylomicronemia syndrome", + "synonyms": [ + "Hyperlipoproteinemia type 1" + ] + }, + { + "gard_id": "GARD:0006418", + "name": "Hyperlipoproteinemia type 4", + "synonyms": [ + "Carbohydrate inducible hyperlipemia", + "Familial type IV hyperlipoproteinemia" + ] + }, + { + "gard_id": "GARD:0006421", + "name": "Familial Mediterranean fever", + "synonyms": [ + "Periodic peritonitis", + "Recurrent polyserositis", + "Benign paroxysmal peritonitis", + "Periodic disease", + "Familial paroxysmal polyserositis", + "Periodic fever", + "FMF" + ] + }, + { + "gard_id": "GARD:0006422", + "name": "Familial periodic paralysis", + "synonyms": [ + "Genetic periodic paralysis" + ] + }, + { + "gard_id": "GARD:0006425", + "name": "Fanconi anemia", + "synonyms": [ + "Fanconi pancytopenia", + "Fanconi's anemia" + ] + }, + { + "gard_id": "GARD:0006426", + "name": "Farber disease", + "synonyms": [ + "Farber lipogranulomatosis", + "Ceramidase deficiency", + "Acid ceramidase deficiency", + "AC deficiency", + "N-Laurylsphingosine deacylase deficiency", + "Farber's disease" + ] + }, + { + "gard_id": "GARD:0006427", + "name": "Farmer's lung", + "synonyms": null + }, + { + "gard_id": "GARD:0006428", + "name": "Fascioliasis", + "synonyms": null + }, + { + "gard_id": "GARD:0006429", + "name": "Fatal familial insomnia", + "synonyms": [ + "Familial fatal insomnia", + "Insomnia familial fatal" + ] + }, + { + "gard_id": "GARD:0006435", + "name": "Fetal hydantoin syndrome", + "synonyms": [ + "Dilantin Embryopathy", + "Phenytoin Embryopathy" + ] + }, + { + "gard_id": "GARD:0006444", + "name": "Fibrous dysplasia", + "synonyms": [ + "Fibrous dysplasia of bone" + ] + }, + { + "gard_id": "GARD:0006445", + "name": "Fibrodysplasia ossificans progressiva", + "synonyms": [ + "FOP", + "Myositis ossificans progressiva", + "Progressive myositis ossificans", + "Progressive ossifying myositis" + ] + }, + { + "gard_id": "GARD:0006447", + "name": "Trimethylaminuria", + "synonyms": [ + "TMAU", + "Fish odor syndrome", + "Fish malodor syndrome", + "Stale fish syndrome", + "TMAuria" + ] + }, + { + "gard_id": "GARD:0006450", + "name": "Fish-eye disease", + "synonyms": [ + "FED", + "Dyslipoproteinemic corneal dystrophy", + "Alpha-lecithin cholesterol acyltransferase deficiency", + "ALPHA-LCAT deficiency", + "LCATA deficiency", + "Partial LCAT deficiency" + ] + }, + { + "gard_id": "GARD:0006452", + "name": "Fitz-Hugh-Curtis syndrome", + "synonyms": [ + "Gonococcal perihepatitis", + "Perihepatitis syndrome" + ] + }, + { + "gard_id": "GARD:0006453", + "name": "Flavimonas oryzihabitans infection", + "synonyms": [ + "Flavimonas oryzihabitans Bacteremia", + "F. Oryzihabitans infection" + ] + }, + { + "gard_id": "GARD:0006454", + "name": "Necrotizing fasciitis", + "synonyms": null + }, + { + "gard_id": "GARD:0006455", + "name": "Floating-Harbor syndrome", + "synonyms": [ + "Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes", + "Pelletier-Leisti syndrome", + "FHS" + ] + }, + { + "gard_id": "GARD:0006457", + "name": "Focal dermal hypoplasia", + "synonyms": [ + "DHOF", + "FODH", + "FDH", + "Goltz Syndrome", + "Goltz Gorlin Syndrome", + "Goltz-Gorlin syndrome" + ] + }, + { + "gard_id": "GARD:0006458", + "name": "Focal task-specific dystonia", + "synonyms": [ + "FTSD", + "Focal dystonia", + "Focal, segmental or multifocal dystonia", + "Task-specific dystonia", + "Focal task specific dystonia", + "Task-specific focal dystonia" + ] + }, + { + "gard_id": "GARD:0006462", + "name": "Fox-Fordyce disease", + "synonyms": [ + "Miliaria, apocrine", + "Apocrine miliaria", + "Fox-Fordyce syndrome" + ] + }, + { + "gard_id": "GARD:0006463", + "name": "Hypothalamic obesity", + "synonyms": [ + "Froelich's adiposity", + "Froelich's syndrome", + "Froehlich syndrome", + "Adiposogenital dystrophy", + "Babinski-Froelich syndrome", + "Adiposodysgenesis" + ] + }, + { + "gard_id": "GARD:0006464", + "name": "Fragile X syndrome", + "synonyms": [ + "Marker X syndrome", + "Martin-Bell syndrome", + "FRAXA syndrome", + "Fra(X) syndrome", + "FXS", + "X-linked mental retardation and macroorchidism" + ] + }, + { + "gard_id": "GARD:0006465", + "name": "Fraser syndrome", + "synonyms": [ + "Cryptophthalmos with other malformations", + "Cryptophthalmos-syndactyly syndrome", + "Cryptophthalmos syndrome", + "Cyclopism", + "Fraser-Francois syndrome", + "Meyer-Schwickerath's syndrome", + "Ulrich-Feichtiger syndrome" + ] + }, + { + "gard_id": "GARD:0006466", + "name": "Freeman-Sheldon syndrome", + "synonyms": [ + "FSS", + "Arthrogryposis distal type 2A", + "Whistling face-windmill vane hand syndrome", + "Craniocarpotarsal dystrophy", + "Craniocarpotarsal dysplasia", + "DA2A", + "Distal arthrogryposis type 2A", + "Freeman-Burian syndrome" + ] + }, + { + "gard_id": "GARD:0006467", + "name": "Frey's syndrome", + "synonyms": [ + "Hyperhidrosis gustatory", + "Gustatory sweating", + "Auriculotemporal nerve syndrome", + "Frey syndrome" + ] + }, + { + "gard_id": "GARD:0006468", + "name": "Friedreich ataxia", + "synonyms": [ + "Friedreich's ataxia", + "Spinocerebellar ataxia, Friedreich", + "Hereditary spinal sclerosis", + "Hereditary spinal ataxia", + "FRDA" + ] + }, + { + "gard_id": "GARD:0006473", + "name": "Fucosidosis", + "synonyms": [ + "Alpha-l-fucosidase deficiency", + "Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" + ] + }, + { + "gard_id": "GARD:0006475", + "name": "Fukuyama type muscular dystrophy", + "synonyms": [ + "FCMD", + "Muscular dystrophy, congenital progressive, with mental retardation", + "Muscular dystrophy, congenital, with central nervous system involvement", + "Muscular dystrophy, congenital, Fukuyama type", + "Cerebromuscular dystrophy, Fukuyama type" + ] + }, + { + "gard_id": "GARD:0006476", + "name": "Fumarase deficiency", + "synonyms": [ + "Fumaric aciduria", + "Fumarate hydratase deficiency" + ] + }, + { + "gard_id": "GARD:0006479", + "name": "GM1 gangliosidosis type 1", + "synonyms": [ + "Gangliosidosis generalized GM1 type 1", + "Gangliosidosis generalized GM1 infantile form", + "Beta galactosidase deficiency type 1", + "GLB deficiency type 1" + ] + }, + { + "gard_id": "GARD:0006481", + "name": "Gardner-Diamond syndrome", + "synonyms": [ + "Autoerythrocyte sensitization", + "Psychogenic purpura", + "Autoerythrocyte sensitization purpura", + "Painful bruising syndrome", + "Autoerythrocyte sensitization syndrome", + "GDS" + ] + }, + { + "gard_id": "GARD:0006482", + "name": "Gardner syndrome", + "synonyms": [ + "Gardner's syndrome", + "Polyposis coli and multiple hard and soft tissue tumors", + "Intestinal polyposis, osteomas, sebaceous cysts" + ] + }, + { + "gard_id": "GARD:0006484", + "name": "Gas bloat syndrome", + "synonyms": [ + "Post-fundoplication syndrome" + ] + }, + { + "gard_id": "GARD:0006485", + "name": "Gastric lymphoma", + "synonyms": [ + "Familial primary gastric lymphoma", + "Primary gastric lymphoma" + ] + }, + { + "gard_id": "GARD:0006497", + "name": "Pemphigoid gestationis", + "synonyms": [ + "Gestational pemphigoid", + "Herpes gestationis" + ] + }, + { + "gard_id": "GARD:0006498", + "name": "Gestational trophoblastic tumor", + "synonyms": [ + "Gestational trophoblastic neoplasm", + "GTN" + ] + }, + { + "gard_id": "GARD:0006499", + "name": "Gianotti Crosti syndrome", + "synonyms": [ + "Acrodermatitis, infantile lichenoid", + "Acrodermatitis, papular infantile", + "Crosti-gianotti syndrome", + "GCS", + "PAC", + "Papular acrodermatitis of childhood", + "PAS" + ] + }, + { + "gard_id": "GARD:0006500", + "name": "Giant axonal neuropathy", + "synonyms": [ + "GAN1", + "Giant axonal neuropathy 1", + "Neuropathy, giant axonal", + "GAN" + ] + }, + { + "gard_id": "GARD:0006502", + "name": "Giant cell myocarditis", + "synonyms": [ + "GCM", + "Idiopathic giant-cell myocarditis" + ] + }, + { + "gard_id": "GARD:0006506", + "name": "Gigantism", + "synonyms": null + }, + { + "gard_id": "GARD:0006509", + "name": "Gingival fibromatosis, 1", + "synonyms": [ + "GINGF1", + "GGF1", + "HGF1", + "Hereditary gingival fibromatosis, 1", + "Fibromatosis gingival, hereditary, 1" + ] + }, + { + "gard_id": "GARD:0006513", + "name": "Glioma", + "synonyms": null + }, + { + "gard_id": "GARD:0006514", + "name": "Gliomatosis cerebri", + "synonyms": null + }, + { + "gard_id": "GARD:0006516", + "name": "Glomerulonephritis", + "synonyms": [ + "Bright's disease" + ] + }, + { + "gard_id": "GARD:0006517", + "name": "Focal segmental glomerulosclerosis", + "synonyms": [ + "FSGS", + "Glomerulosclerosis, focal", + "Segmental glomerulosclerosis", + "Focal sclerosis with hyalinosis", + "Familial idiopathic steroid-resistant nephrotic syndrome", + "Familial idiopathic nephrotic syndrome" + ] + }, + { + "gard_id": "GARD:0006518", + "name": "Glossodynia", + "synonyms": null + }, + { + "gard_id": "GARD:0006519", + "name": "Glossopharyngeal neuralgia", + "synonyms": null + }, + { + "gard_id": "GARD:0006520", + "name": "Glucose-6-phosphate dehydrogenase deficiency", + "synonyms": [ + "G6PD deficiency", + "Hemolytic anemia due to G6PD deficiency" + ] + }, + { + "gard_id": "GARD:0006521", + "name": "Glucose-galactose malabsorption", + "synonyms": [ + "Glucose galactose malabsorption deficiency", + "Carbohydrate intolerance of glucose galactose", + "Complex carbohydrate intolerance", + "Monosaccharide malabsorption", + "GGM" + ] + }, + { + "gard_id": "GARD:0006522", + "name": "Glutaric acidemia type I", + "synonyms": [ + "Glutaric acidemia type 1", + "Glutaric acidemia 1", + "Glutaric aciduria 1", + "GA 1", + "Glutaryl-CoA dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0006523", + "name": "Glutaric acidemia type II", + "synonyms": [ + "Glutaric acidemia type 2", + "Glutaric acidemia 2", + "Glutaric aciduria 2", + "GA 2", + "Ethylmalonic-adipicaciduria", + "Multiple Acyl-CoA dehydrogenase deficiency", + "EMA", + "MADD" + ] + }, + { + "gard_id": "GARD:0006528", + "name": "Glycogen storage disease type 5", + "synonyms": [ + "GSD 5", + "McArdle disease", + "McArdle type glycogen storage disease", + "PYGM deficiency", + "Muscle glycogen phosphorylase deficiency", + "Myophosphorylase deficiency" + ] + }, + { + "gard_id": "GARD:0006529", + "name": "Glycogen storage disease type 6", + "synonyms": [ + "GSD6", + "Glycogen storage disease 6", + "Hers disease", + "Phosphorylase deficiency glycogen-storage disease of liver" + ] + }, + { + "gard_id": "GARD:0006538", + "name": "Glycogen storage disease 8", + "synonyms": [ + "Glycogenosis type 8", + "Glycogen storage disease VIII", + "Hepatic phosphorylase kinase deficiency", + "Phosphorylase kinase deficiency of liver", + "PYKL" + ] + }, + { + "gard_id": "GARD:0006540", + "name": "Goldenhar disease", + "synonyms": [ + "Goldenhar syndrome", + "Facioauriculovertebral sequence", + "FAv sequence", + "Expanded spectrum of hemifacial microsomia", + "Facioauriculovertebral dysplasia", + "OAV dysplasia", + "OAVS", + "Oculoauriculovertebral dysplasia", + "Oculoauriculovertebral syndrome", + "Expanded spectrum hemifacial microsomia" + ] + }, + { + "gard_id": "GARD:0006542", + "name": "Gorham's disease", + "synonyms": [ + "Cystic angiomatosis of bone diffuse", + "Gorham-Stout syndrome", + "Gorham-Stout disease", + "Osteolysis massive", + "Vanishing bone disease" + ] + }, + { + "gard_id": "GARD:0006543", + "name": "Acrogeria, Gottron type", + "synonyms": [ + "Metageria", + "Acrometageria", + "Familial acrogeria", + "Acrogeria", + "Gottron syndrome" + ] + }, + { + "gard_id": "GARD:0006544", + "name": "Acute graft versus host disease", + "synonyms": [ + "Acute GVHD" + ] + }, + { + "gard_id": "GARD:0006545", + "name": "Granulocytopenia", + "synonyms": null + }, + { + "gard_id": "GARD:0006546", + "name": "Granuloma annulare", + "synonyms": null + }, + { + "gard_id": "GARD:0006547", + "name": "Granulomatous hypophysitis", + "synonyms": [ + "Idiopathic granulomatous hypophysitis" + ] + }, + { + "gard_id": "GARD:0006548", + "name": "Granulomatous rosacea", + "synonyms": null + }, + { + "gard_id": "GARD:0006550", + "name": "Greig cephalopolysyndactyly syndrome", + "synonyms": [ + "GCPS", + "Greig syndrome", + "Polysyndactyly with peculiar skull shape" + ] + }, + { + "gard_id": "GARD:0006552", + "name": "Growth hormone deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0006554", + "name": "Guillain-Barre syndrome", + "synonyms": [ + "Acute autoimmune peripheral neuropathy", + "GBS", + "Acute immune-mediated polyneuropathy", + "Acute inflammatory demyelinating polyneuropathy", + "Acute inflammatory demyelinating polyradiculoneuropathy", + "Acute inflammatory neuropathy", + "Acute inflammatory polyneuropathy", + "Landry-Guillain-Barre-Strohl syndrome", + "Landry's ascending paralysis", + "Post-infective polyneuritis", + "Guillain-Barré syndrome", + "Guillain-Barré-Strohl syndrome" + ] + }, + { + "gard_id": "GARD:0006556", + "name": "Gyrate atrophy of choroid and retina", + "synonyms": [ + "Ornithine aminotransferase deficiency", + "Ornithine ketoacid aminotransferase deficiency", + "Gyrate atrophy", + "OAT deficiency", + "OKT deficiency", + "Hyperornithinemia with gyrate atrophy of choroid and retina", + "HOGA", + "Girate atrophy of the retina", + "Hyperornithinemia", + "Fuchs atrophia gyrata chorioideae et retinae", + "Hyperornithinemia-gyrate atrophy of choroid and retina syndrome" + ] + }, + { + "gard_id": "GARD:0006557", + "name": "Hemangioendothelioma", + "synonyms": null + }, + { + "gard_id": "GARD:0006558", + "name": "Factor XII deficiency", + "synonyms": [ + "HAF deficiency", + "Hageman factor deficiency", + "F12 deficiency", + "Coagulation factor 12 deficiency", + "Factor 12 deficiency" + ] + }, + { + "gard_id": "GARD:0006559", + "name": "Hailey-Hailey disease", + "synonyms": [ + "Benign familial pemphigus", + "Benign chronic pemphigus", + "Familial benign pemphigus", + "BCPM" + ] + }, + { + "gard_id": "GARD:0006560", + "name": "Hairy cell leukemia", + "synonyms": [ + "Leukemic reticuloendotheliosis", + "HCL" + ] + }, + { + "gard_id": "GARD:0006564", + "name": "Pantothenate kinase-associated neurodegeneration", + "synonyms": [ + "PKAN", + "Neurodegeneration with brain iron accumulation", + "NBIA", + "Neuroaxonal dystrophy, late infantile", + "Hallervorden-Spatz disease" + ] + }, + { + "gard_id": "GARD:0006568", + "name": "Harlequin ichthyosis", + "synonyms": [ + "Ichthyosis congenita, Harlequin fetus type", + "Harlequin fetus" + ] + }, + { + "gard_id": "GARD:0006569", + "name": "Hartnup disease", + "synonyms": [ + "HND", + "Hartnup disorder" + ] + }, + { + "gard_id": "GARD:0006571", + "name": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", + "synonyms": [ + "Ankyloblepharon ectodermal defects cleft lip/palate", + "AEC syndrome", + "Hay-Wells syndrome" + ] + }, + { + "gard_id": "GARD:0006577", + "name": "Heavy metal poisoning", + "synonyms": [ + "Chronic heavy metal poisoning", + "Heavy Metal Toxicity" + ] + }, + { + "gard_id": "GARD:0006578", + "name": "Helminthiasis", + "synonyms": [ + "Intestinal helminthiasis", + "Worm infections" + ] + }, + { + "gard_id": "GARD:0006582", + "name": "Hemifacial microsomia", + "synonyms": [ + "First and second branchial arch syndrome" + ] + }, + { + "gard_id": "GARD:0006584", + "name": "Hemoglobin SC disease", + "synonyms": [ + "Sickle cell - hemoglobin C disease", + "HbSC disease", + "Sickle cell-hemoglobin C disease syndrome" + ] + }, + { + "gard_id": "GARD:0006588", + "name": "Hemolytic uremic syndrome", + "synonyms": [ + "HUS", + "Acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')" + ] + }, + { + "gard_id": "GARD:0006589", + "name": "Familial hemophagocytic lymphohistiocytosis", + "synonyms": [ + "Familial erythrophagocytic lymphohistiocytosis", + "Familial histiocytic reticulosis", + "FHL", + "HLH", + "Familial HLH" + ] + }, + { + "gard_id": "GARD:0006590", + "name": "Hemophagocytic reticulosis", + "synonyms": [ + "Hemophagocytic reticulitis" + ] + }, + { + "gard_id": "GARD:0006591", + "name": "Hemophilia A", + "synonyms": [ + "Hemophilia, classic", + "HEM A", + "Classic hemophilia", + "Factor 8 deficiency", + "Factor VIII deficiency", + "Classical hemophilia", + "Haemophilia A", + "Hemophilia A, congenital" + ] + }, + { + "gard_id": "GARD:0006592", + "name": "Hemophilic arthropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0006594", + "name": "Essential thrombocythemia", + "synonyms": [ + "Primary thrombocythemia", + "Hemorrhagic thrombocythemia", + "Essential thrombocytosis", + "Idiopathic thrombocythemia" + ] + }, + { + "gard_id": "GARD:0006595", + "name": "Hemosiderosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006608", + "name": "Primary liver cancer", + "synonyms": [ + "Primary tumor of the liver", + "Primary Liver Carcinoma", + "Primary Malignant Liver Neoplasm", + "Primary cancer of liver", + "Rare tumor of liver and intrahepatic biliary tract" + ] + }, + { + "gard_id": "GARD:0006610", + "name": "Hepatorenal syndrome", + "synonyms": [ + "Hepato-renal syndrome" + ] + }, + { + "gard_id": "GARD:0006611", + "name": "Hereditary amyloidosis", + "synonyms": [ + "Familial amyloidosis", + "Amyloidosis hereditary" + ] + }, + { + "gard_id": "GARD:0006614", + "name": "Hereditary ataxia", + "synonyms": null + }, + { + "gard_id": "GARD:0006616", + "name": "Myopathic carnitine deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0006618", + "name": "Neuronal ceroid lipofuscinosis 9", + "synonyms": [ + "CLN 9" + ] + }, + { + "gard_id": "GARD:0006619", + "name": "Hereditary coproporphyria", + "synonyms": [ + "Coproporphyria", + "Coproporphyria hereditary", + "Hereditary coproporphyria porphyria", + "Porphyria hepatica coproporphyria", + "Porphyria hepatica II", + "HCP", + "Coproporphyrinogen oxidase deficiency", + "CPO deficiency", + "CPRO deficiency", + "CPX deficiency" + ] + }, + { + "gard_id": "GARD:0006621", + "name": "Hereditary elliptocytosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006622", + "name": "Hereditary fructose intolerance", + "synonyms": [ + "Fructose-1-phosphate aldolase deficiency", + "ALDOB deficiency", + "Aldolase B deficiency", + "Fructose-1,6-bisphosphate aldolase B deficiency", + "Fructose intolerance, hereditary" + ] + }, + { + "gard_id": "GARD:0006626", + "name": "Hereditary hemorrhagic telangiectasia", + "synonyms": [ + "HHT", + "Osler Weber Rendu syndrome", + "ORW disease", + "Osler-Rendu-Weber disease", + "Rendu-Osler-Weber disease" + ] + }, + { + "gard_id": "GARD:0006632", + "name": "Hereditary pancreatitis", + "synonyms": [ + "Hereditary chronic pancreatitis" + ] + }, + { + "gard_id": "GARD:0006635", + "name": "Hereditary sensory neuropathy type 1", + "synonyms": [ + "HSAN 1", + "Neuropathy hereditary sensory radicular, autosomal dominant", + "Neuropathy hereditary sensory and autonomic type 1", + "HSN1", + "Hereditary sensory and autonomic neuropathy type 1" + ] + }, + { + "gard_id": "GARD:0006637", + "name": "Hereditary spastic paraplegia", + "synonyms": [ + "HSP", + "Familial spastic paraparesis", + "FSP", + "Familial spastic paraplegia", + "Hereditary spastic paraparesis", + "SPG", + "Strümpell-Lorrain disease" + ] + }, + { + "gard_id": "GARD:0006639", + "name": "Hereditary spherocytosis", + "synonyms": [ + "Congenital spherocytic hemolytic anemia", + "Congenital spherocytosis", + "Spherocytic anemia" + ] + }, + { + "gard_id": "GARD:0006643", + "name": "Hermansky-Pudlak syndrome", + "synonyms": [ + "HPS", + "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells", + "Hermansky Pudlak syndrome" + ] + }, + { + "gard_id": "GARD:0006649", + "name": "Herpes simplex encephalitis", + "synonyms": [ + "Herpetic encephalitis", + "Herpes simplex meningo-encephalitis", + "Herpes simplex neuroinvasion", + "HSV encephalitis", + "Herpes simplex virus encephalitis", + "HSE", + "HSVE" + ] + }, + { + "gard_id": "GARD:0006654", + "name": "Herpesvirus simiae B virus infection", + "synonyms": [ + "Herpes B virus infection", + "Cercopithecine herpesvirus 1 infection" + ] + }, + { + "gard_id": "GARD:0006657", + "name": "Chronic hiccups", + "synonyms": [ + "Intractable singultus", + "Intractable hiccups", + "Persistent hiccups", + "Hiccups, intractable" + ] + }, + { + "gard_id": "GARD:0006660", + "name": "Hirschsprung disease", + "synonyms": [ + "HSCR", + "Hirschsprung disease 1", + "HSCR 1", + "Aganglionic megacolon", + "Hirschsprung disease type 1" + ] + }, + { + "gard_id": "GARD:0006661", + "name": "Histidinemia", + "synonyms": [ + "Histidase deficiency", + "HIS deficiency", + "HAL deficiency", + "Histidine ammonia-lyase deficiency" + ] + }, + { + "gard_id": "GARD:0006665", + "name": "Holoprosencephaly", + "synonyms": [ + "HPE" + ] + }, + { + "gard_id": "GARD:0006666", + "name": "Holt-Oram syndrome", + "synonyms": [ + "Heart-hand syndrome", + "HOS", + "Atriodigital dysplasia", + "Ventriculo-radial syndrome", + "Atrio digital syndrome", + "Cardiac-limb syndrome", + "Heart-hand syndrome, type 1", + "HOS 1" + ] + }, + { + "gard_id": "GARD:0006667", + "name": "Homocystinuria due to CBS deficiency", + "synonyms": [ + "Homocystinuria due to cystathionine beta-synthase deficiency", + "Cystathionine beta-synthase deficiency", + "CBS deficiency", + "Classic homocystinuria" + ] + }, + { + "gard_id": "GARD:0006668", + "name": "Homologous wasting disease", + "synonyms": null + }, + { + "gard_id": "GARD:0006670", + "name": "Horner's syndrome", + "synonyms": [ + "Bernard-Horner Syndrome", + "Oculosympathetic Palsy" + ] + }, + { + "gard_id": "GARD:0006675", + "name": "Mucopolysaccharidosis type II", + "synonyms": [ + "MPS II", + "Attenuated MPS (subtype; formerly known as mild MPS II)", + "Severe MPS II", + "Hunter syndrome", + "Iduronate 2-sulfatase deficiency", + "I2S deficiency", + "MPS 2" + ] + }, + { + "gard_id": "GARD:0006677", + "name": "Huntington disease", + "synonyms": [ + "Huntington's chorea", + "Huntington's disease", + "HD" + ] + }, + { + "gard_id": "GARD:0006681", + "name": "Hydranencephaly", + "synonyms": [ + "Hydroanencephaly" + ] + }, + { + "gard_id": "GARD:0006682", + "name": "Congenital hydrocephalus", + "synonyms": null + }, + { + "gard_id": "GARD:0006683", + "name": "Hydrolethalus syndrome", + "synonyms": [ + "HLS" + ] + }, + { + "gard_id": "GARD:0006692", + "name": "Hypercementosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006703", + "name": "Hyperlipidemia type 3", + "synonyms": [ + "Hyperlipoproteinemia type 3", + "Hyperlipoproteinemia type III", + "Broad-betalipoproteinemia", + "Broad beta disease", + "Familial dysbetalipoproteinemia", + "Remnant removal disease" + ] + }, + { + "gard_id": "GARD:0006704", + "name": "Hyperlipoproteinemia type 5", + "synonyms": [ + "Hyperlipoproteinemia type V", + "Hyperchylomicronemia late onset", + "Hyperchylomicronemia with hyperprebetalipoproteinemia, familial", + "Hyperlipidemia type V", + "Hyperlipemia mixed", + "Hyperlipemia combined fat and carbohydrate-induced", + "Mixed hyperlipemia", + "Type V hyperlipoproteinemia" + ] + }, + { + "gard_id": "GARD:0006710", + "name": "Hyperprolinemia type 2", + "synonyms": [ + "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency", + "Type 2 hyperprolinemia", + "Hyperprolinemia type 2" + ] + }, + { + "gard_id": "GARD:0006717", + "name": "Hypertrophic branchial myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0006724", + "name": "Hypochondroplasia", + "synonyms": [ + "HCH" + ] + }, + { + "gard_id": "GARD:0006725", + "name": "Hypocomplementemic urticarial vasculitis", + "synonyms": [ + "Anti-C1q vasculitis", + "Mac Duffie hypocomplementemic urticarial vasculitis", + "Mac Duffie syndrome", + "McDuffie hypocomplementemic urticarial vasculitis", + "McDuffie syndrome" + ] + }, + { + "gard_id": "GARD:0006729", + "name": "Hypokalemic periodic paralysis", + "synonyms": [ + "HOKPP", + "HypoPP" + ] + }, + { + "gard_id": "GARD:0006731", + "name": "Hypomelanotic disorder", + "synonyms": [ + "Hypopigmentation" + ] + }, + { + "gard_id": "GARD:0006733", + "name": "Hypoparathyroidism", + "synonyms": [ + "Parathyroid, underactivity of", + "Hypoparathyroidism, idiopathic (subtype)" + ] + }, + { + "gard_id": "GARD:0006734", + "name": "Hypophosphatasia", + "synonyms": [ + "Phosphoethanol-aminuria", + "Hypophosphatasia mild", + "Phosphoethanolaminuria", + "Rathburn disease" + ] + }, + { + "gard_id": "GARD:0006735", + "name": "Hypophosphatemic rickets", + "synonyms": null + }, + { + "gard_id": "GARD:0006737", + "name": "Panhypopituitarism X-linked", + "synonyms": [ + "PHPX", + "Pituitary dwarfism IV (formerly)" + ] + }, + { + "gard_id": "GARD:0006738", + "name": "Hypoplasia of the tibia with polydactyly", + "synonyms": [ + "Tibial hemimelia- polydactyly- triphalangeal thumbs with fibular dimelia" + ] + }, + { + "gard_id": "GARD:0006739", + "name": "Hypoplastic left heart syndrome", + "synonyms": [ + "HLHS" + ] + }, + { + "gard_id": "GARD:0006749", + "name": "I cell disease", + "synonyms": [ + "Mucolipidosis 2", + "ML 2", + "ICD", + "GNPTA", + "Inclusion cell disease", + "Leroy Disease", + "N-acetylglucosamine 1phosphotransferase deficiency", + "ML disorder type 2" + ] + }, + { + "gard_id": "GARD:0006752", + "name": "Ichthyosis vulgaris", + "synonyms": [ + "Ichthyosis simplex", + "Common ichthyosis", + "Fish scale disease" + ] + }, + { + "gard_id": "GARD:0006755", + "name": "Idiopathic alveolar hypoventilation syndrome", + "synonyms": [ + "Primary central sleep apnea" + ] + }, + { + "gard_id": "GARD:0006757", + "name": "Idiopathic dilatation of the pulmonary artery", + "synonyms": null + }, + { + "gard_id": "GARD:0006760", + "name": "Juvenile osteoporosis", + "synonyms": [ + "Idiopathic juvenile osteoporosis", + "Osteoporosis, juvenile", + "IJO" + ] + }, + { + "gard_id": "GARD:0006763", + "name": "Idiopathic pulmonary hemosiderosis", + "synonyms": [ + "Hemosiderosis, pulmonary, with deficiency of gamma-a globulin", + "Alveolar hypoventilation syndrome", + "Pulmonary hemosiderosis" + ] + }, + { + "gard_id": "GARD:0006768", + "name": "Immune thrombocytopenia", + "synonyms": null + }, + { + "gard_id": "GARD:0006769", + "name": "Imperforate anus", + "synonyms": [ + "Anal atresia", + "Anal stenosis", + "Anorectal Malformations" + ] + }, + { + "gard_id": "GARD:0006770", + "name": "Inborn amino acid metabolism disorder", + "synonyms": [ + "Amino acid metabolism, inborn errors" + ] + }, + { + "gard_id": "GARD:0006774", + "name": "Inborn renal aminoaciduria", + "synonyms": null + }, + { + "gard_id": "GARD:0006777", + "name": "Inclusion conjunctivitis", + "synonyms": null + }, + { + "gard_id": "GARD:0006778", + "name": "Incontinentia pigmenti", + "synonyms": [ + "IP", + "Incontinentia pigmenti, familial male-lethal type", + "Bloch-Sulzberger syndrome", + "Incontinentia pigmenti type 2 (formerly)", + "IP2 (formerly)" + ] + }, + { + "gard_id": "GARD:0006779", + "name": "Infantile apnea", + "synonyms": [ + "Apnea of infancy", + "AOI" + ] + }, + { + "gard_id": "GARD:0006781", + "name": "Infectious arthritis", + "synonyms": [ + "Septic arthritis" + ] + }, + { + "gard_id": "GARD:0006782", + "name": "Infectious myocarditis", + "synonyms": [ + "Post-infectious myocarditis", + "Postinfectious myocarditi" + ] + }, + { + "gard_id": "GARD:0006784", + "name": "Inflammatory breast cancer", + "synonyms": [ + "Breast cancer, inflammatory" + ] + }, + { + "gard_id": "GARD:0006789", + "name": "Intestinal pseudo-obstruction", + "synonyms": [ + "Intestinal pseudoobstruction", + "Hollow visceral myopathy" + ] + }, + { + "gard_id": "GARD:0006791", + "name": "Fuchs heterochromic iridocyclitis", + "synonyms": [ + "FHI", + "Fuchs heterochromic cyclitis", + "Fuchs heterochromic uveitis" + ] + }, + { + "gard_id": "GARD:0006793", + "name": "Isaacs' syndrome", + "synonyms": [ + "Neuromyotonia", + "Isaac's-Merten's syndrome", + "Continuous muscle fiber activity syndrome", + "Quantal squander syndrome", + "Acquired neuromyotonia", + "Isaac syndrome", + "Isaac-Mertens syndrome", + "Peripheral nerve hyperexcitability" + ] + }, + { + "gard_id": "GARD:0006795", + "name": "Ivemark syndrome", + "synonyms": [ + "Asplenia with cardiovascular anomalies", + "Asplenia syndrome", + "Bilateral right-sidedness sequence", + "Splenic agenesis syndrome" + ] + }, + { + "gard_id": "GARD:0006796", + "name": "Jackson-Weiss syndrome", + "synonyms": [ + "JWS", + "Craniosynostosis, midfacial hypoplasia, and foot abnormalities" + ] + }, + { + "gard_id": "GARD:0006797", + "name": "Japanese encephalitis", + "synonyms": [ + "JE" + ] + }, + { + "gard_id": "GARD:0006798", + "name": "Spondylothoracic dysostosis", + "synonyms": [ + "Spondylothoracic dysplasia", + "Jarcho-Levin syndrome" + ] + }, + { + "gard_id": "GARD:0006799", + "name": "Jejunal atresia", + "synonyms": [ + "Apple peel syndrome", + "Apple peel small bowel syndrome", + "APSB", + "Apple-peel intestinal atresia", + "Familial apple peel jejunal atresia", + "Atresia of small intestine", + "Intestinal atresia type IIIb", + "Jejunoileal atresia", + "Small intestinal atresia" + ] + }, + { + "gard_id": "GARD:0006800", + "name": "Autosomal dominant hyper IgE syndrome", + "synonyms": [ + "AD-HIES", + "Hyper Ig E syndrome, autosomal dominant", + "HIES autosomal dominant", + "Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant", + "AD hyperimmunoglobulin E syndrome", + "Job syndrome autosomal dominant" + ] + }, + { + "gard_id": "GARD:0006801", + "name": "Spinocerebellar ataxia 3", + "synonyms": [ + "SCA3", + "Machado-Joseph disease", + "MJD", + "Nigrospinodentatal degeneration", + "Azorean neurologic disease", + "Spinocerebellar atrophy type 3", + "Spinopontine atrophy" + ] + }, + { + "gard_id": "GARD:0006802", + "name": "Joubert syndrome", + "synonyms": [ + "Cerebelloparenchymal disorder 4", + "Cerebellar vermis agenesis", + "Joubert-Boltshauser syndrome", + "JBTS1", + "CPD4", + "Cerebellooculorenal syndrome 1", + "CORS1", + "Joubert syndrome 1" + ] + }, + { + "gard_id": "GARD:0006803", + "name": "Jumping Frenchmen of Maine", + "synonyms": [ + "Exaggerated startle reflex", + "Startle disease", + "'jumpers' of Maine" + ] + }, + { + "gard_id": "GARD:0006805", + "name": "Juvenile dermatomyositis", + "synonyms": [ + "Juvenile DM" + ] + }, + { + "gard_id": "GARD:0006807", + "name": "Hyaline fibromatosis syndrome", + "synonyms": [ + "Juvenile hyaline fibromatosis (former subtype)", + "Puretic syndrome", + "Infantile systemic hyalinosis (former subtype)", + "Inherited systemic hyalinosis" + ] + }, + { + "gard_id": "GARD:0006808", + "name": "Juvenile myoclonic epilepsy", + "synonyms": [ + "Petit mal, impulsive", + "JME", + "EJM", + "Janz syndrome", + "Myoclonic epilepsy, juvenile, 1" + ] + }, + { + "gard_id": "GARD:0006810", + "name": "Kabuki syndrome", + "synonyms": [ + "NKS", + "Niikawa-Kuroki syndrome", + "KMS", + "Kabuki make up syndrome" + ] + }, + { + "gard_id": "GARD:0006811", + "name": "Kallikrein hypertension", + "synonyms": [ + "Kallikrein attenuated hypertension" + ] + }, + { + "gard_id": "GARD:0006814", + "name": "Kaposi sarcoma", + "synonyms": [ + "Kaposi's sarcoma", + "Mediterranean Kaposi sarcoma", + "Non AIDS related Kaposi sarcoma", + "Human herpesvirus 8", + "HHV8", + "Kaposi sarcoma herpesvirus", + "KSHV" + ] + }, + { + "gard_id": "GARD:0006815", + "name": "Kartagener syndrome", + "synonyms": [ + "Dextrocardia bronchiectasis and sinusitis", + "Siewert syndrome", + "Dextrocardia-bronchiectasis-sinusitis syndrome", + "Primary ciliary dyskinesia and situs inversus", + "Immotile cilia syndrome, Kartagener type", + "Primary ciliary dyskinesia, Kartagener type" + ] + }, + { + "gard_id": "GARD:0006816", + "name": "Kawasaki disease", + "synonyms": [ + "Mucocutaneous lymph node syndrome", + "Kawasaki syndrome" + ] + }, + { + "gard_id": "GARD:0006817", + "name": "Kearns-Sayre syndrome", + "synonyms": [ + "KSS", + "Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy", + "Oculocraniosomatic syndrome", + "Ophthalmoplegia plus syndrome", + "Mitochondrial cytopathy", + "Ophthalmoplegia, progressive external, with ragged red fibers", + "Chronic progressive external ophthalmoplegia with myopathy", + "CPEO with myopathy", + "CPEO with ragged red fibers" + ] + }, + { + "gard_id": "GARD:0006818", + "name": "Kennedy disease", + "synonyms": [ + "Spinal and bulbar muscular atrophy", + "X-linked spinal and bulbar muscular atrophy", + "Bulbospinal muscular atrophy", + "X-linked bulbospinal amyotrophy", + "Spinobulbar muscular atrophy", + "SBMA" + ] + }, + { + "gard_id": "GARD:0006821", + "name": "Muir-Torre syndrome", + "synonyms": [ + "Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas", + "Keratoacanthoma" + ] + }, + { + "gard_id": "GARD:0006824", + "name": "Keratoconus", + "synonyms": [ + "Noninflammatory corneal thining", + "KC" + ] + }, + { + "gard_id": "GARD:0006825", + "name": "Keratomalacia", + "synonyms": [ + "Night Blindness", + "Retinol Deficiency", + "Vitamin A Deficiency", + "Xerotic Keratitis" + ] + }, + { + "gard_id": "GARD:0006829", + "name": "Keratosis follicularis spinulosa decalvans", + "synonyms": [ + "KFSD", + "Keratosis follicularis spinulosa decalvans cum ophiasi" + ] + }, + { + "gard_id": "GARD:0006830", + "name": "Kernicterus", + "synonyms": [ + "Bilirubin encephalopathy", + "Hyperbilirubinemic encephalopathy", + "Kernicterus spectrum disorder" + ] + }, + { + "gard_id": "GARD:0006834", + "name": "Kikuchi disease", + "synonyms": [ + "Kikuchi necrotizing lymphadenitis", + "Nosocomial Kikuchi's disease", + "Kikuchi's disease", + "Kikuchi-Fujimoto's disease", + "Histiocytic necrotising lymphadenitis", + "Histiocytic necrotizing lymphadenitis", + "Kikuchi-Fujimoto disease" + ] + }, + { + "gard_id": "GARD:0006835", + "name": "Kimura disease", + "synonyms": [ + "Eosinophilic granuloma of soft tissue", + "Eosinophilic hyperplastic lymphogranuloma", + "Eosinophilic lymphofolliculosis", + "Eosinophilic lymphofollicular granuloma", + "Eosinophilic lymphogranuloma" + ] + }, + { + "gard_id": "GARD:0006838", + "name": "Segmentation syndrome 1", + "synonyms": [ + "Klippel-Feil syndrome with laryngeal malformation", + "SGM1" + ] + }, + { + "gard_id": "GARD:0006840", + "name": "Kluver Bucy syndrome", + "synonyms": [ + "Bilateral temporal lobe disorder", + "Post-encephalitic Kluver Bucy syndrome (type)", + "Post-traumatic Kluver Bucy syndrome (type)", + "Memory loss, extreme sexual behavior, placidity, and visual distractibility" + ] + }, + { + "gard_id": "GARD:0006841", + "name": "Kniest dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0006842", + "name": "Kohler disease", + "synonyms": [ + "Kohler's Disease", + "Kohler's Disease of the Tarsal Navicular", + "Kohler's Osteochondrosis of the Tarsal Navicular", + "Navicular Osteochondrosis", + "Aseptic necrosis of the tarsal bone", + "Osteochondritis of tarsal/metatarsal bone", + "Osteochondrosis of the tarsal bone", + "OBSOLETE: Osteochondritis of tarsal/metatarsal bone" + ] + }, + { + "gard_id": "GARD:0006843", + "name": "Wernicke-Korsakoff syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0006844", + "name": "Krabbe disease", + "synonyms": [ + "Krabbe leukodystrophy", + "Globoid cell leukodystrophy", + "GCL", + "Globoid cell leukoencephalopathy", + "Galactosylceramide beta-galactosidase deficiency", + "GALC deficiency", + "GLD", + "Galactocerebrosidase deficiency" + ] + }, + { + "gard_id": "GARD:0006845", + "name": "Autosomal recessive neuronal ceroid lipofuscinosis 4A", + "synonyms": null + }, + { + "gard_id": "GARD:0006848", + "name": "Lacrimo-auriculo-dento-digital syndrome", + "synonyms": [ + "LADD syndrome", + "Levy Hollister syndrome", + "Lacrimoauriculodento-digital syndrome" + ] + }, + { + "gard_id": "GARD:0006851", + "name": "Lambert Eaton myasthenic syndrome", + "synonyms": [ + "LEMS", + "Eaton Lambert syndrome", + "Lambert Eaton syndrome", + "Myasthenic syndrome of Lambert-Eaton", + "Myasthenic-Myopathic syndrome of Lambert-Eaton" + ] + }, + { + "gard_id": "GARD:0006855", + "name": "Landau-Kleffner syndrome", + "synonyms": [ + "Acquired aphasia with convulsive disorder", + "LKS", + "Acquired epileptiform aphasia", + "Acquired epileptic aphasia" + ] + }, + { + "gard_id": "GARD:0006858", + "name": "Langerhans cell histiocytosis", + "synonyms": [ + "LCH", + "Histiocytosis X" + ] + }, + { + "gard_id": "GARD:0006859", + "name": "Laron syndrome", + "synonyms": [ + "Growth hormone insensitivity syndrome", + "Pituitary dwarfism II", + "Growth hormone receptor deficiency", + "Primary growth hormone resistance", + "Primary growth hormone insensitivity", + "Laron dwarfism", + "Laron type pituitary dwarfism I" + ] + }, + { + "gard_id": "GARD:0006860", + "name": "Larsen syndrome", + "synonyms": [ + "LRS", + "Autosomal dominant Larsen syndrome" + ] + }, + { + "gard_id": "GARD:0006862", + "name": "Laryngeal cancer", + "synonyms": [ + "Laryngeal carcinoma" + ] + }, + { + "gard_id": "GARD:0006864", + "name": "Laryngeal papillomatosis", + "synonyms": [ + "Warts in the throat", + "Juvenile laryngeal papillomatosis (subtype)", + "Recurrent laryngeal papillomatosis (subtype)" + ] + }, + { + "gard_id": "GARD:0006865", + "name": "Laryngomalacia", + "synonyms": [ + "Laryngomalacia congenital", + "Congenital laryngomalacia", + "Congenital laryngeal stridor" + ] + }, + { + "gard_id": "GARD:0006866", + "name": "Bardet-Biedl syndrome", + "synonyms": [ + "BBS", + "Biedl-Bardet Syndrome" + ] + }, + { + "gard_id": "GARD:0006867", + "name": "LCHAD deficiency", + "synonyms": [ + "Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency", + "Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency", + "Long-chain 3-OH acyl-CoA dehydrogenase deficiency", + "3-hydroxyacyl-CoA dehydrogenase long chain deficiency" + ] + }, + { + "gard_id": "GARD:0006870", + "name": "Leber hereditary optic neuropathy", + "synonyms": [ + "Leber’s disease", + "Optic atrophy, Leber type", + "Leber optic atrophy", + "LHON" + ] + }, + { + "gard_id": "GARD:0006873", + "name": "Ledderhose disease", + "synonyms": [ + "Lederhose disease" + ] + }, + { + "gard_id": "GARD:0006874", + "name": "Legg-Calve-Perthes disease", + "synonyms": [ + "Perthes disease", + "Legg-Calve-Perthes syndrome", + "LCPD", + "Osteochondritis deformans", + "Coxa plana" + ] + }, + { + "gard_id": "GARD:0006876", + "name": "Legionnaires’ disease", + "synonyms": [ + "Legionnaires disease", + "Legionellosis" + ] + }, + { + "gard_id": "GARD:0006877", + "name": "Leigh syndrome", + "synonyms": [ + "LS", + "Subacute necrotizing encephalopathy", + "SNE", + "Necrotizing encephalopathy infantile subacute of Leigh", + "Leigh's necrotizing encephalopathy", + "Leigh's disease", + "Infantile subacute necrotizing encephalopathy", + "Leigh disease" + ] + }, + { + "gard_id": "GARD:0006878", + "name": "Leiner disease", + "synonyms": [ + "Erythroderma desquamativum" + ] + }, + { + "gard_id": "GARD:0006880", + "name": "Leiomyosarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0006881", + "name": "Leishmaniasis", + "synonyms": [ + "Kala-azar", + "Visceral leishmaniasis (subtype)", + "Cutaneous leishmaniasis (subtype)" + ] + }, + { + "gard_id": "GARD:0006882", + "name": "Lemierre syndrome", + "synonyms": [ + "Oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein", + "Necrobacillosis", + "Lemierre postanginal sepsis", + "Septic phlebitis of the internal jugular vein", + "Postanginal sepsis secondary to orophyngeal infection", + "Lemierre’s syndrome" + ] + }, + { + "gard_id": "GARD:0006885", + "name": "Leprechaunism", + "synonyms": [ + "Donohue syndrome" + ] + }, + { + "gard_id": "GARD:0006886", + "name": "Hansen's disease", + "synonyms": [ + "Leprosy" + ] + }, + { + "gard_id": "GARD:0006892", + "name": "Leukemia subleukemic", + "synonyms": [ + "Aleukemic leukemia cutis" + ] + }, + { + "gard_id": "GARD:0006893", + "name": "Leukocyte adhesion deficiency type 1", + "synonyms": [ + "LAD", + "LAD 1", + "Lymphocyte function-associated antigen 1 immunodeficiency", + "LFA 1 immunodeficiency", + "LAD-I", + "Leukocyte adhesion deficiency type I" + ] + }, + { + "gard_id": "GARD:0006895", + "name": "Leukodystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0006897", + "name": "Leukoplakia", + "synonyms": null + }, + { + "gard_id": "GARD:0006899", + "name": "Levator syndrome", + "synonyms": [ + "Levator ani syndrome", + "Levator ani spasm syndrome" + ] + }, + { + "gard_id": "GARD:0006901", + "name": "Lhermitte-Duclos disease", + "synonyms": [ + "Dysplastic gangliocytoma of the cerebellum" + ] + }, + { + "gard_id": "GARD:0006902", + "name": "Li-Fraumeni syndrome", + "synonyms": [ + "Sarcoma family syndrome of Li and Fraumeni", + "SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)", + "LFS1", + "Li Fraumeni syndrome" + ] + }, + { + "gard_id": "GARD:0006905", + "name": "Lichen sclerosus", + "synonyms": [ + "Lichen sclerosis", + "Lichen sclerosis et atrophicus", + "Lichen sclerosus et atrophicus" + ] + }, + { + "gard_id": "GARD:0006906", + "name": "Light chain deposition disease", + "synonyms": [ + "Light-chain deposition disease" + ] + }, + { + "gard_id": "GARD:0006907", + "name": "Limb-girdle muscular dystrophy", + "synonyms": [ + "Limb girdle muscular dystrophy", + "LGMD" + ] + }, + { + "gard_id": "GARD:0006910", + "name": "Lipogranulomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006913", + "name": "Liposarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0006914", + "name": "Lissencephaly X-linked", + "synonyms": [ + "X-linked lissencephaly", + "Lissencephaly and agenesis of corpus callosum", + "LISX", + "XLIS" + ] + }, + { + "gard_id": "GARD:0006915", + "name": "Listeria infection", + "synonyms": [ + "Listeriosis", + "Listeria monocytogenes infection" + ] + }, + { + "gard_id": "GARD:0006919", + "name": "Locked-in syndrome", + "synonyms": [ + "Locked in syndrome", + "Cerebromedullospinal disconnection" + ] + }, + { + "gard_id": "GARD:0006920", + "name": "Loin pain hematuria syndrome", + "synonyms": [ + "LPHS" + ] + }, + { + "gard_id": "GARD:0006932", + "name": "Lymph Node Neoplasm", + "synonyms": null + }, + { + "gard_id": "GARD:0006933", + "name": "Lymphangiectasis", + "synonyms": [ + "Lymphangiectasia" + ] + }, + { + "gard_id": "GARD:0006940", + "name": "Lymphocytic infiltrate of Jessner", + "synonyms": [ + "Benign lymphocytic infiltration", + "Jessner disease", + "Jessner-Kanof syndrome", + "Benign chronic T-cell infiltrative disorder" + ] + }, + { + "gard_id": "GARD:0006941", + "name": "Lymphocytic vasculitis", + "synonyms": [ + "Vasculitis lymphocytic, nodular" + ] + }, + { + "gard_id": "GARD:0006943", + "name": "Lymphomatoid granulomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006944", + "name": "Lymphomatoid papulosis", + "synonyms": [ + "LyP" + ] + }, + { + "gard_id": "GARD:0006945", + "name": "Lymphomatous thyroiditis", + "synonyms": null + }, + { + "gard_id": "GARD:0006946", + "name": "Lymphosarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0006950", + "name": "Megalencephaly-capillary malformation syndrome", + "synonyms": [ + "M-CM", + "Megalocephaly cutis marmorata telangiectatica congenita", + "Macrocephaly cutis marmorata telangiectatica congenita", + "Megalencephaly cutis marmorata telangiectatica congenita", + "M-CMTC", + "Macrocephaly-capillary malformation" + ] + }, + { + "gard_id": "GARD:0006951", + "name": "Macrodactyly of toes", + "synonyms": [ + "Megalodactyly of the foot", + "Megalodactylism of the foot", + "Macrodactyly of foot" + ] + }, + { + "gard_id": "GARD:0006953", + "name": "Macular dystrophy, corneal type 1", + "synonyms": [ + "MCDC1", + "Corneal dystrophy, macular type", + "Groenouw type II corneal dystrophy", + "Macular corneal dystrophy type 1" + ] + }, + { + "gard_id": "GARD:0006956", + "name": "Creutzfeldt-Jakob disease", + "synonyms": [ + "Creutzfeldt Jakob disease", + "Creutzfeldt-Jacob disease", + "Creutzfeldt Jacob disease", + "CJD" + ] + }, + { + "gard_id": "GARD:0006957", + "name": "Multiple symmetric lipomatosis", + "synonyms": [ + "Benign symmetrical lipomatosis", + "Launois-Bensaude syndrome", + "Madelung's disease", + "Familial symmetric lipomatosis", + "Madelung disease" + ] + }, + { + "gard_id": "GARD:0006958", + "name": "Maffucci syndrome", + "synonyms": [ + "Dyschondrodysplasia with Hemangiomas", + "Enchondromatosis with Multiple Cavernous Hemangiomas", + "Hemangiomatosis Chondrodystrophica", + "Kast Syndrome", + "Multiple Angiomas and Endochondromas", + "Enchondromatosis type II (former)", + "Chondrodysplasia with hemangioma", + "Chondroplasia angiomatosis", + "Enchondromatosis with hemangiomata" + ] + }, + { + "gard_id": "GARD:0006959", + "name": "Mal de debarquement syndrome", + "synonyms": [ + "MdDS", + "Mal de debarquement", + "Sickness of disembarkment", + "Disembarkment syndrome" + ] + }, + { + "gard_id": "GARD:0006960", + "name": "Malakoplakia", + "synonyms": [ + "Malacoplakia" + ] + }, + { + "gard_id": "GARD:0006961", + "name": "Malaria", + "synonyms": null + }, + { + "gard_id": "GARD:0006963", + "name": "Undifferentiated pleomorphic sarcoma", + "synonyms": [ + "Malignant fibrohistiocytic tumors", + "Malignant fibrous histiocytoma", + "UPS" + ] + }, + { + "gard_id": "GARD:0006964", + "name": "Malignant hyperthermia", + "synonyms": [ + "MH", + "Anesthesia related hyperthermia", + "Malignant hyperpyrexia", + "Fulminating hyperpyrexia", + "Pharmacogenic myopathy", + "Hyperpyrexia malignant", + "Malignant hyperthermia of anesthesia", + "Hyperthermia of anesthesia" + ] + }, + { + "gard_id": "GARD:0006966", + "name": "Malignant mixed Mullerian tumor", + "synonyms": [ + "Mixed tumor, Mullerian", + "Mixed Mullerian tumor", + "Carcinosarcoma", + "MMMT" + ] + }, + { + "gard_id": "GARD:0006967", + "name": "Mallory-Weiss syndrome", + "synonyms": [ + "Gastroesophageal laceration-hemorrhage", + "Mallory-Weiss laceration", + "Mallory-Weiss tear", + "Mucosal lacerations - gastroesophageal junction" + ] + }, + { + "gard_id": "GARD:0006968", + "name": "Alpha-mannosidosis", + "synonyms": [ + "Lysosomal alpha-D-mannosidase deficiency", + "Alpha mannosidase B deficiency", + "Mannosidosis, alpha B lysosomal" + ] + }, + { + "gard_id": "GARD:0006969", + "name": "Mantle cell lymphoma", + "synonyms": [ + "Lymphoma, mantle cell" + ] + }, + { + "gard_id": "GARD:0006971", + "name": "Marchiafava Bignami disease", + "synonyms": [ + "MBD", + "Chronic Marchiafava-Bignami syndrome", + "Acute Marchiafava-Bignami disease" + ] + }, + { + "gard_id": "GARD:0006972", + "name": "Marcus Gunn phenomenon", + "synonyms": [ + "Jaw-winking", + "Maxillopalpebral synkinesis", + "Familial Marcus Gunn phenomenon (subtype)", + "Marcus Gunn syndrome" + ] + }, + { + "gard_id": "GARD:0006973", + "name": "Marden-Walker syndrome", + "synonyms": [ + "MWS", + "Connective tissue disorder Marden Walker type" + ] + }, + { + "gard_id": "GARD:0006974", + "name": "Marek disease", + "synonyms": [ + "Fowl Paralysis", + "Marek's Disease", + "Neurolymphomatosis", + "Fowl Paralyses" + ] + }, + { + "gard_id": "GARD:0006975", + "name": "Marfan syndrome", + "synonyms": [ + "Contractural arachnodactyly" + ] + }, + { + "gard_id": "GARD:0006984", + "name": "Marshall syndrome", + "synonyms": [ + "Deafness, myopia, cataract, saddle nose-Marshall type" + ] + }, + { + "gard_id": "GARD:0006985", + "name": "Marshall-Smith syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0006986", + "name": "Spastic paraplegia 1", + "synonyms": [ + "Mental Retardation Aphasia Shuffling Gait Adducted Thumbs (MASA)", + "MASA syndrome", + "Clasped thumb and mental retardation", + "Thumb congenital clasped with mental retardation", + "Adducted thumb with mental retardation", + "Gareis-Mason syndrome", + "Crash syndrome" + ] + }, + { + "gard_id": "GARD:0006987", + "name": "Mastocytosis", + "synonyms": [ + "Mast cell disease" + ] + }, + { + "gard_id": "GARD:0006991", + "name": "Maxillofacial dysostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0006992", + "name": "Maxillonasal dysplasia, Binder type", + "synonyms": [ + "Binder syndrome" + ] + }, + { + "gard_id": "GARD:0006995", + "name": "McCune-Albright syndrome", + "synonyms": [ + "MAS", + "Albright syndrome", + "Albright's disease", + "PFD", + "POFD", + "McCune Albright syndrome", + "Polyostotic fibrous dysplasia" + ] + }, + { + "gard_id": "GARD:0006996", + "name": "Cartilage-hair hypoplasia", + "synonyms": [ + "Metaphyseal chondrodysplasia McKusick type", + "CHH", + "Cartilage hair hypoplasia like syndrome" + ] + }, + { + "gard_id": "GARD:0007002", + "name": "Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations", + "synonyms": [ + "Medullary cystic kidney disease 1 (former)", + "Mucin-1 kidney disease", + "ADTKD due to MUC1 mutations", + "ADTKD-MUC1", + "MCKD1", + "Medullary cystic kidney disease type 1", + "MUC1-related autosomal dominant medullary cystic kidney disease", + "MUCI-related ADTKD", + "Autosomal dominant tubulointerstitial kidney disease, MUC1-associated", + "MUC1-related autosomal dominant tubulointerstitial kidney disease" + ] + }, + { + "gard_id": "GARD:0007004", + "name": "Thyroid cancer, medullary", + "synonyms": [ + "Thyroid carcinoma, medullary", + "Medullary thyroid cancer (MTC)" + ] + }, + { + "gard_id": "GARD:0007005", + "name": "Medulloblastoma", + "synonyms": [ + "MDB" + ] + }, + { + "gard_id": "GARD:0007006", + "name": "Imerslund-Grasbeck syndrome", + "synonyms": [ + "IGS", + "Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria", + "Enterocyte cobalamin malabsorption", + "Defect of enterocyte intrinsic factor receptor", + "Familial megaloblastic anemia", + "Selective cobalamin malabsorption with proteinuria", + "Gräsbeck-Imerslund disease", + "Megaloblastic anemia 1" + ] + }, + { + "gard_id": "GARD:0007008", + "name": "Meige syndrome", + "synonyms": [ + "Meige's syndrome", + "Oral facial dystonia", + "Brueghel syndrome", + "Idiopathic blepharospasm-oromandibular dystonia syndrome", + "Segmental cranial dystonia", + "Blepharospasm-oromandibular dystonia", + "Meige dystonia", + "Blepharospasm - oromandibular dystonia", + "Blepharospasm-oromandibular dystonia syndrome" + ] + }, + { + "gard_id": "GARD:0007009", + "name": "Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes", + "synonyms": [ + "MELAS", + "MELAS syndrome" + ] + }, + { + "gard_id": "GARD:0007010", + "name": "Melkersson-Rosenthal syndrome", + "synonyms": [ + "MRS", + "Melkersson syndrome", + "MROS", + "Cheilitis Granulomatosa" + ] + }, + { + "gard_id": "GARD:0007011", + "name": "Melnick-Needles syndrome", + "synonyms": [ + "Melnick-Needles osteodysplasty", + "MNS", + "Osteodysplasty of Melnick and Needles" + ] + }, + { + "gard_id": "GARD:0007015", + "name": "Meningioma", + "synonyms": null + }, + { + "gard_id": "GARD:0007021", + "name": "Mercury poisoning", + "synonyms": [ + "Mercury toxicity" + ] + }, + { + "gard_id": "GARD:0007026", + "name": "Malignant mesothelioma", + "synonyms": [ + "Mesothelioma, malignant" + ] + }, + { + "gard_id": "GARD:0007029", + "name": "Metaphyseal chondrodysplasia Schmid type", + "synonyms": [ + "MCDS" + ] + }, + { + "gard_id": "GARD:0007030", + "name": "Metastatic insulinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0007033", + "name": "Methylmalonic acidemia", + "synonyms": [ + "MMA", + "Acidemia, methylmalonic" + ] + }, + { + "gard_id": "GARD:0007034", + "name": "Monoclonal gammopathy of undetermined significance", + "synonyms": [ + "MGUS" + ] + }, + { + "gard_id": "GARD:0007035", + "name": "Hereditary multiple osteochondromas", + "synonyms": [ + "HMO", + "Hereditary multiple exostoses", + "Hereditary multiple exostosis", + "Multiple exostoses" + ] + }, + { + "gard_id": "GARD:0007036", + "name": "Microcephaly with chorioretinopathy, autosomal dominant form", + "synonyms": null + }, + { + "gard_id": "GARD:0007038", + "name": "Microencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0007039", + "name": "Microvillus inclusion disease", + "synonyms": [ + "Davidson disease", + "Microvillus atrophy, congenital", + "Congenital familial protracted diarrhea with enterocyte brush-border abnormalities", + "Intractable diarrhea of infancy", + "Congenital familial protracted diarrhea", + "Congenital microvillous atrophy", + "Davidson's disease", + "Familial enteropathy, microvillus" + ] + }, + { + "gard_id": "GARD:0007041", + "name": "Midline lethal granuloma", + "synonyms": null + }, + { + "gard_id": "GARD:0007043", + "name": "IgG4-related dacryoadenitis and sialadenitis", + "synonyms": [ + "Mikulicz's disease (former)", + "Mikulicz disease (former)", + "Mikulicz syndrome (former)", + "Chronic dacryoadenitis and sialadenitis" + ] + }, + { + "gard_id": "GARD:0007048", + "name": "Mitochondrial genetic disorders", + "synonyms": null + }, + { + "gard_id": "GARD:0007051", + "name": "Mixed connective tissue disease", + "synonyms": [ + "MCTD", + "Sharp syndrome" + ] + }, + { + "gard_id": "GARD:0007054", + "name": "Mondor disease", + "synonyms": [ + "Mondor's disease", + "Thrombophlebitis of breast", + "Thrombophlebitis of the subcutaneous veins of breast", + "Thrombophlebitis of the subcutaneous veins of the anterior chest wall", + "Mondor's syndrome of superficial thrombophlebitis" + ] + }, + { + "gard_id": "GARD:0007056", + "name": "Mononeuritis multiplex", + "synonyms": null + }, + { + "gard_id": "GARD:0007058", + "name": "Localized scleroderma", + "synonyms": [ + "Scleroderma, localized", + "Localized fibrosing scleroderma" + ] + }, + { + "gard_id": "GARD:0007060", + "name": "Chromosome 16 trisomy", + "synonyms": [ + "Trisomy 16", + "Trisomy chromosome 16", + "Mosaic trisomy 16" + ] + }, + { + "gard_id": "GARD:0007064", + "name": "Moyamoya disease", + "synonyms": [ + "Moyamoya syndrome", + "Spontaneous occlusion of the circle of Willis", + "MYMY" + ] + }, + { + "gard_id": "GARD:0007065", + "name": "Mucopolysaccharidosis", + "synonyms": [ + "MPS" + ] + }, + { + "gard_id": "GARD:0007071", + "name": "Mucopolysaccharidosis type IIIA", + "synonyms": [ + "Mucopoly-saccharidosis type 3A", + "Sanfilippo syndrome A", + "Heparan sulfate sulfatase deficiency", + "MPS IIIA", + "MPS 3A", + "Heparan sulfamidase deficiency", + "MPS3A", + "MPSIIIA", + "Mucopolysaccharidosis type 3A", + "Sanfilippo syndrome type A" + ] + }, + { + "gard_id": "GARD:0007072", + "name": "Mucopolysaccharidosis type IIIB", + "synonyms": [ + "Mucopoly-saccharidosis type 3B", + "Sanfilippo syndrome B", + "N-acetyl-alpha-d-glucosaminidase deficiency", + "MPS IIIB", + "MPS 3B" + ] + }, + { + "gard_id": "GARD:0007073", + "name": "Mucopolysaccharidosis type IIIC", + "synonyms": [ + "Mucopoly-saccharidosis type 3C", + "Sanfilippo syndrome C", + "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", + "MPS IIIC", + "MPS 3C", + "Heparan-alpha-glucosaminide N-acetyltransferase deficiency", + "Sanfilippo syndrome type C", + "HGSNAT deficiency", + "MPS3C", + "MPSIIIC", + "Mucopolysaccharidosis type 3C" + ] + }, + { + "gard_id": "GARD:0007074", + "name": "Mucopolysaccharidosis type IIID", + "synonyms": [ + "Mucopoly-saccharidosis type 3D", + "Sanfilippo syndrome D", + "N-acetylglucosamine-6-sulfate sulfatase deficiency", + "MPS IIID", + "MPS 3D", + "Glucosamine N-acetyl-6-sulfatase deficiency", + "GNS deficiency", + "MPS3D", + "MPSIIID", + "Mucopolysaccharidosis type 3D", + "Sanfilippo syndrome type D" + ] + }, + { + "gard_id": "GARD:0007079", + "name": "Multiple system atrophy", + "synonyms": [ + "MSA", + "Shy-Drager syndrome (formerly)" + ] + }, + { + "gard_id": "GARD:0007095", + "name": "Mucopolysaccharidosis type VI", + "synonyms": [ + "MPS VI", + "Mucopolysaccharidosis type 6", + "MPS 6", + "Arylsulfatase B deficiency", + "ARSB deficiency", + "N-acetylgalactosamine-4-sulfatase deficiency", + "Mucopoly-saccharidosis type VI", + "Maroteaux Lamy syndrome" + ] + }, + { + "gard_id": "GARD:0007096", + "name": "Mucopolysaccharidosis type VII", + "synonyms": [ + "MPS VII", + "Mucopolysaccharidosis type 7", + "MPS 7", + "Beta-glucuronidase deficiency", + "GUSB deficiency", + "Sly syndrome" + ] + }, + { + "gard_id": "GARD:0007097", + "name": "Muenke Syndrome", + "synonyms": [ + "Muenke nonsyndromic coronal craniosynostosis", + "Syndrome of coronal craniosynostosis" + ] + }, + { + "gard_id": "GARD:0007100", + "name": "Mullerian aplasia", + "synonyms": [ + "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)", + "Congenital absence of the uterus and vagina (CAUV)", + "MRKH syndrome", + "Rokitansky syndrome", + "Mullerian dysgenesis", + "Congenital absence of uterus and vagina", + "Müllerian agenesis", + "Genital renal ear syndrome", + "Mayer-Rokitansky-Küster-Hauser syndrome" + ] + }, + { + "gard_id": "GARD:0007103", + "name": "Multicentric reticulohistiocytosis", + "synonyms": null + }, + { + "gard_id": "GARD:0007108", + "name": "Multiple myeloma", + "synonyms": [ + "Plasma cell myeloma", + "Kahler disease", + "Myelomatosis", + "Plasma cell dyscrasia", + "Myeloma - multiple" + ] + }, + { + "gard_id": "GARD:0007111", + "name": "Multiple pterygium syndrome Escobar type", + "synonyms": [ + "Escobar syndrome", + "Multiple pterygium syndrome nonlethal type", + "Pterygium syndrome", + "Multiple pterygium syndrome", + "Pterygium colli syndrome", + "Pterygium universale", + "Autosomal recessive non-lethal multiple pterygium syndrome", + "Escobar variant multiple pterygium syndrome", + "EVMPS", + "Autosomal recessive multiple pterygium syndrome" + ] + }, + { + "gard_id": "GARD:0007116", + "name": "Mumps", + "synonyms": null + }, + { + "gard_id": "GARD:0007117", + "name": "Munchausen by proxy syndrome", + "synonyms": [ + "Munchausen syndrome by proxy" + ] + }, + { + "gard_id": "GARD:0007122", + "name": "Myasthenia gravis", + "synonyms": null + }, + { + "gard_id": "GARD:0007123", + "name": "Mycobacterium Avium Complex infections", + "synonyms": [ + "Mycobacterium Avium-Intracellulare", + "MAI", + "Mycobacterium Avium", + "Mycobacterium Avium-Intracellulare infection" + ] + }, + { + "gard_id": "GARD:0007125", + "name": "Mycoplasmal pneumonia", + "synonyms": null + }, + { + "gard_id": "GARD:0007130", + "name": "Myelitis", + "synonyms": null + }, + { + "gard_id": "GARD:0007132", + "name": "Myelodysplastic syndromes", + "synonyms": [ + "MDS", + "myelodysplasia" + ] + }, + { + "gard_id": "GARD:0007137", + "name": "Myocarditis", + "synonyms": null + }, + { + "gard_id": "GARD:0007139", + "name": "Myoclonus-dystonia", + "synonyms": [ + "DYT11", + "Dystonia, alcohol responsive", + "Hereditary essential myoclonus", + "Myoclonus, hereditary essential", + "Myoclonic dystonia", + "Myoclonus-dystonia syndrome", + "DYT-SGCE", + "Dystonia-11, myoclonic", + "Dystonia 11", + "Alcohol-responsive dystonia" + ] + }, + { + "gard_id": "GARD:0007140", + "name": "Progressive myoclonic epilepsy", + "synonyms": [ + "Familial progressive myoclonic epilepsy" + ] + }, + { + "gard_id": "GARD:0007142", + "name": "Myoclonus epilepsy", + "synonyms": null + }, + { + "gard_id": "GARD:0007143", + "name": "Myoclonus epilepsy partial seizure", + "synonyms": null + }, + { + "gard_id": "GARD:0007144", + "name": "Myoclonic epilepsy with ragged red fibers", + "synonyms": [ + "Merrf syndrome", + "MERRF", + "Myoclonic epilepsy associated with ragged red fibers", + "Fukuhara syndrome", + "Myoencephalopathy ragged-red fiber disease" + ] + }, + { + "gard_id": "GARD:0007146", + "name": "Inflammatory myofibroblastic tumor", + "synonyms": [ + "Inflammatory fibrosarcoma" + ] + }, + { + "gard_id": "GARD:0007148", + "name": "Myosin storage myopathy", + "synonyms": [ + "Hyaline body myopathy" + ] + }, + { + "gard_id": "GARD:0007157", + "name": "Myxoid liposarcoma", + "synonyms": [ + "Myxoid/round cell liposarcoma", + "Myxoliposarcoma", + "MRCLS" + ] + }, + { + "gard_id": "GARD:0007158", + "name": "N-acetylglutamate synthase deficiency", + "synonyms": [ + "Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency", + "NAGS deficiency", + "NAG synthetase deficiency", + "N-acetyl glutamate synthetase deficiency" + ] + }, + { + "gard_id": "GARD:0007160", + "name": "Nail-patella syndrome", + "synonyms": [ + "NPS 1", + "Onychoosteodysplasia", + "Turner-Kieser syndrome", + "Fong disease", + "Osteo-Onychodysplasia", + "Arthro-Onychodysplasia" + ] + }, + { + "gard_id": "GARD:0007161", + "name": "Nance-Horan syndrome", + "synonyms": [ + "Cataract dental syndrome", + "Cataract X-linked with Hutchinsonian teeth", + "Mesiodens cataract syndrome" + ] + }, + { + "gard_id": "GARD:0007162", + "name": "Narcolepsy", + "synonyms": [ + "Narcoleptic syndrome", + "Gelineau syndrome", + "Gelineau's syndrome", + "Narcolepsy-cataplexy syndrome", + "Paroxysmal sleep" + ] + }, + { + "gard_id": "GARD:0007163", + "name": "Nasopharyngeal carcinoma", + "synonyms": [ + "Nasopharyngeal Cancer" + ] + }, + { + "gard_id": "GARD:0007166", + "name": "Nevoid basal cell carcinoma syndrome", + "synonyms": [ + "Gorlin-Goltz Syndrome", + "Basal Cell Nevus Syndrome", + "Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies", + "Gorlin syndrome" + ] + }, + { + "gard_id": "GARD:0007169", + "name": "Neisseria meningitidis infection", + "synonyms": [ + "Meningococcal disease" + ] + }, + { + "gard_id": "GARD:0007170", + "name": "Nelson syndrome", + "synonyms": [ + "Dermal Ridges", + "Ridges-off-the-end syndrome" + ] + }, + { + "gard_id": "GARD:0007171", + "name": "Childhood-onset nemaline myopathy", + "synonyms": [ + "Mild nemaline myopathy" + ] + }, + { + "gard_id": "GARD:0007172", + "name": "Neonatal hemochromatosis", + "synonyms": [ + "Idiopathic neonatal Hemochromatosis", + "NH", + "NHC", + "Neonatal hepatitis (formerly)", + "Giant Cell Hepatitis (formerly)", + "Hemochromatosis neonatal" + ] + }, + { + "gard_id": "GARD:0007173", + "name": "Neonatal herpes", + "synonyms": [ + "Neonatal herpes simplex virus infection", + "Neonatal HSV infection" + ] + }, + { + "gard_id": "GARD:0007177", + "name": "Nephrocalcinosis", + "synonyms": [ + "Hypercalcemic nephropathy" + ] + }, + { + "gard_id": "GARD:0007178", + "name": "Nephrogenic diabetes insipidus", + "synonyms": [ + "Diabetes insipidus nephrogenic", + "Diabetes insipidus nephrogenic type 1", + "Vasopressin-resistant diabetes insipidus", + "ADH resistant diabetes insipidus", + "Diabetes insipidus nephrogenic X-linked" + ] + }, + { + "gard_id": "GARD:0007179", + "name": "Nephrosclerosis", + "synonyms": null + }, + { + "gard_id": "GARD:0007182", + "name": "Netherton syndrome", + "synonyms": [ + "NETH", + "Netherton disease" + ] + }, + { + "gard_id": "GARD:0007183", + "name": "Sialidosis, type II", + "synonyms": [ + "Mucolipidosis type 1", + "Neuraminidase deficiency", + "Lipomucopolysaccharidosis", + "Sialidase deficiency", + "Glycoprotein neuraminidase deficiency", + "ML1", + "NEUG deficiency", + "Neuraminidase 1 deficiency", + "NEU 1 deficiency" + ] + }, + { + "gard_id": "GARD:0007185", + "name": "Neuroblastoma", + "synonyms": [ + "NB" + ] + }, + { + "gard_id": "GARD:0007186", + "name": "Neurocutaneous melanosis", + "synonyms": [ + "Melanosis, neurocutaneous", + "Neurocutaneous melanosis syndrome" + ] + }, + { + "gard_id": "GARD:0007189", + "name": "Neuroendocrine carcinoma of the cervix", + "synonyms": null + }, + { + "gard_id": "GARD:0007190", + "name": "Alzheimer's disease without neurofibrillary tangles", + "synonyms": null + }, + { + "gard_id": "GARD:0007191", + "name": "Neurofibroma", + "synonyms": null + }, + { + "gard_id": "GARD:0007193", + "name": "Neurofibromatosis type 2", + "synonyms": [ + "NF2", + "Neurofibromatosis central type", + "Acoustic schwannomas bilateral", + "Bilateral acoustic neurofibromatosis", + "Acoustic neurinoma bilateral", + "Neurofibromatosis type II" + ] + }, + { + "gard_id": "GARD:0007195", + "name": "Neuroleptic malignant syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0007196", + "name": "Neuroma biliary tract", + "synonyms": null + }, + { + "gard_id": "GARD:0007198", + "name": "Neuronal interstitial dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0007199", + "name": "Neurotoxicity syndromes", + "synonyms": [ + "Toxic encephalopathy" + ] + }, + { + "gard_id": "GARD:0007201", + "name": "Immune defect due to absence of thymus", + "synonyms": [ + "T-lymphocyte deficiency", + "Thymic aplasia", + "Nezelof syndrome" + ] + }, + { + "gard_id": "GARD:0007206", + "name": "Niemann-Pick disease type A", + "synonyms": [ + "Sphingomyelin lipidosis", + "Sphingomyelinase deficiency" + ] + }, + { + "gard_id": "GARD:0007207", + "name": "Niemann-Pick disease type C1", + "synonyms": [ + "Niemann-Pick disease, type C", + "NPC1", + "Niemann-Pick disease with cholesterol esterification block", + "Niemann-Pick disease, subacute juvenile form", + "Niemann-Pick disease, chronic neuronopathic form", + "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia" + ] + }, + { + "gard_id": "GARD:0007210", + "name": "Nocardiosis", + "synonyms": [ + "Nocardia infection", + "Lung nocardiosis" + ] + }, + { + "gard_id": "GARD:0007216", + "name": "Non-lissencephalic cortical dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0007219", + "name": "Glycine encephalopathy", + "synonyms": [ + "Hyperglycinemia nonketotic", + "Nonketotic hyperglycinemia", + "Glycine synthase deficiency", + "Non-ketotic hyperglycinemia" + ] + }, + { + "gard_id": "GARD:0007220", + "name": "Milroy disease", + "synonyms": [ + "Hereditary lymphedema", + "Congenital hereditary lymphedema", + "Early onset lymphedema", + "Hereditary lymphedema 1", + "Primary congenital lymphedema", + "Nonne-Milroy syndrome", + "Nonne-Milroy disease", + "Milroy's disease", + "Nonne’s syndrome", + "Congenital primary lymphedema", + "Hereditary lymphedema type I", + "Nonne-Milroy lymphedema" + ] + }, + { + "gard_id": "GARD:0007222", + "name": "Nonsyndromic hereditary sensorineural hearing loss", + "synonyms": null + }, + { + "gard_id": "GARD:0007223", + "name": "Noonan syndrome 1", + "synonyms": null + }, + { + "gard_id": "GARD:0007224", + "name": "Norrie disease", + "synonyms": [ + "Atrophia bulborum hereditaria", + "Pseudoglioma", + "Episkopi blindness", + "Norrie syndrome", + "Norrie-Warburg syndrome", + "Anderson-Warburg syndrome", + "NDP", + "Fetal iritis syndrome" + ] + }, + { + "gard_id": "GARD:0007226", + "name": "Lesch Nyhan syndrome", + "synonyms": [ + "LNS", + "HPRT deficiency, complete", + "Lesch-Nyhan syndrome", + "Lesch Nyhan disease", + "Choreoathetosis self-mutilation syndrome", + "Complete HPRT deficiency complete", + "Hypoxanthine-guanine phosphoribosyltransferase deficiency" + ] + }, + { + "gard_id": "GARD:0007229", + "name": "Familial hypertrophic cardiomyopathy", + "synonyms": [ + "Cardiomyopathy familial hypertrophic", + "Heritable hypertrophic cardiomyopathy", + "Familial HCM" + ] + }, + { + "gard_id": "GARD:0007231", + "name": "Ochronosis", + "synonyms": null + }, + { + "gard_id": "GARD:0007236", + "name": "Ocular melanoma", + "synonyms": null + }, + { + "gard_id": "GARD:0007238", + "name": "Ocular toxoplasmosis", + "synonyms": null + }, + { + "gard_id": "GARD:0007239", + "name": "Oculodentodigital dysplasia", + "synonyms": [ + "Oculo-dento-digital dysplasia", + "Oculo-dento-digital syndrome", + "Oculodentodigital syndrome", + "ODDD", + "ODD syndrome" + ] + }, + { + "gard_id": "GARD:0007245", + "name": "Oculopharyngeal muscular dystrophy", + "synonyms": [ + "OPMD", + "Muscular dystrophy, oculopharyngeal" + ] + }, + { + "gard_id": "GARD:0007247", + "name": "Odontoma", + "synonyms": null + }, + { + "gard_id": "GARD:0007248", + "name": "Ogilvie syndrome", + "synonyms": [ + "Ogilvie's syndrome", + "Acute colonic ileus", + "Acute colonic pseudo-obstruction", + "ACPO" + ] + }, + { + "gard_id": "GARD:0007250", + "name": "Olivopontocerebellar atrophy", + "synonyms": [ + "OPCA" + ] + }, + { + "gard_id": "GARD:0007251", + "name": "Ollier disease", + "synonyms": [ + "Dyschondroplasia", + "Enchondromatosis", + "Multiple cartilaginous enchondroses", + "Multiple enchondromatosis" + ] + }, + { + "gard_id": "GARD:0007252", + "name": "Onchocerciasis", + "synonyms": [ + "River blindness", + "Robles' disease" + ] + }, + { + "gard_id": "GARD:0007260", + "name": "Oral leukoplakia", + "synonyms": null + }, + { + "gard_id": "GARD:0007263", + "name": "Oral squamous cell carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0007264", + "name": "Oral submucous fibrosis", + "synonyms": [ + "OSMF" + ] + }, + { + "gard_id": "GARD:0007269", + "name": "Carbamoyl phosphate synthetase 1 deficiency", + "synonyms": [ + "Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency", + "CPS 1 deficiency", + "Carbamyl phosphate synthetase (CPS) deficiency" + ] + }, + { + "gard_id": "GARD:0007272", + "name": "Ornithinemia", + "synonyms": null + }, + { + "gard_id": "GARD:0007281", + "name": "Osteochondroma", + "synonyms": null + }, + { + "gard_id": "GARD:0007284", + "name": "Osteosarcoma", + "synonyms": [ + "Osteogenic sarcoma" + ] + }, + { + "gard_id": "GARD:0007285", + "name": "Osteomalacia", + "synonyms": null + }, + { + "gard_id": "GARD:0007286", + "name": "Osteomyelitis", + "synonyms": null + }, + { + "gard_id": "GARD:0007293", + "name": "Oto-Palatal-digital syndrome", + "synonyms": [ + "type 2 (Andre syndrome)" + ] + }, + { + "gard_id": "GARD:0007295", + "name": "Ovarian cancer", + "synonyms": [ + "Ovarian carcinoma" + ] + }, + { + "gard_id": "GARD:0007296", + "name": "Ovarian carcinosarcoma", + "synonyms": [ + "Malignant mixed mullerian tumor of the ovary", + "MMMT of the ovary", + "Ovarian malignant mixed Müllerian tumor", + "Ovarian malignant mixed epithelial mesenchymal tumor", + "Malignant mixed Müllerian tumor of the ovary" + ] + }, + { + "gard_id": "GARD:0007297", + "name": "Ovarian remnant syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0007299", + "name": "Pachydermoperiostosis", + "synonyms": [ + "Primary hypertrophic osteoarthropathy", + "Idiopathic hypertrophic osteoarthropathy", + "PDP", + "Touraine Solente Gole syndrome" + ] + }, + { + "gard_id": "GARD:0007300", + "name": "Pachygyria", + "synonyms": [ + "Macrogyria", + "Broad gyri of cerebrum", + "Large gyri of cerebrum" + ] + }, + { + "gard_id": "GARD:0007303", + "name": "Paget disease of the breast", + "synonyms": [ + "Paget's disease, mammary", + "Mammary Paget's disease", + "Paget's disease of the nipple" + ] + }, + { + "gard_id": "GARD:0007304", + "name": "Palindromic rheumatism", + "synonyms": [ + "Palindromic rheumatism syndrome", + "Hench-Rosenberg syndrome", + "Hench's syndrome" + ] + }, + { + "gard_id": "GARD:0007305", + "name": "Pallister-Hall syndrome", + "synonyms": [ + "PHS", + "Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly", + "Pallister Hall syndrome" + ] + }, + { + "gard_id": "GARD:0007312", + "name": "Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections", + "synonyms": [ + "Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus", + "Pediatric autoimmune disorders associated with Streptococcus infections", + "PANDAS" + ] + }, + { + "gard_id": "GARD:0007313", + "name": "Mesomelic dwarfism of hypoplastic tibia and radius type", + "synonyms": null + }, + { + "gard_id": "GARD:0007318", + "name": "Papilledema", + "synonyms": [ + "Edema of the optic disc", + "Choked disk" + ] + }, + { + "gard_id": "GARD:0007320", + "name": "Optic neuritis", + "synonyms": null + }, + { + "gard_id": "GARD:0007321", + "name": "Papular mucinosis", + "synonyms": [ + "Lichen myxoedematosus", + "Lichen myxedematosus", + "Localized lichen myxedematosus" + ] + }, + { + "gard_id": "GARD:0007322", + "name": "Papular urticaria", + "synonyms": [ + "Bullous papular urticaria - type" + ] + }, + { + "gard_id": "GARD:0007323", + "name": "Paracoccidioidomycosis", + "synonyms": [ + "Lobo disease", + "Lutz-Splendore-Almeida disease", + "Paracoccidioidal granuloma", + "PCM", + "South american blastomycosis" + ] + }, + { + "gard_id": "GARD:0007324", + "name": "Paragangliomas 1", + "synonyms": [ + "PGL 1", + "Paragangliomas familial 1", + "SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 1)", + "Paragangliomata", + "PGL", + "Glomus tumors familial 1", + "Chemodectomas" + ] + }, + { + "gard_id": "GARD:0007325", + "name": "Paramyotonia congenita", + "synonyms": [ + "PMC", + "Paramyotonia congenita of Von Eulenburg", + "Paralysis periodica paramyotonica", + "Eulenburg disease", + "Myotonia congenita intermittens", + "Von Eulenburg paramyotonia congenita" + ] + }, + { + "gard_id": "GARD:0007326", + "name": "Paraneoplastic cerebellar degeneration", + "synonyms": null + }, + { + "gard_id": "GARD:0007327", + "name": "Paraplegia", + "synonyms": [ + "Severe or complete loss of motor function in the lower extremities and lower portions of the trunk" + ] + }, + { + "gard_id": "GARD:0007328", + "name": "Parapsoriasis", + "synonyms": [ + "Digitate dermatosis", + "Parapsoriasis en plaque" + ] + }, + { + "gard_id": "GARD:0007329", + "name": "Parathyroid carcinoma", + "synonyms": [ + "Parathyroid cancer" + ] + }, + { + "gard_id": "GARD:0007335", + "name": "Paroxysmal cold hemoglobinuria", + "synonyms": [ + "PCH", + "Hemoglobinuria paroxysmal cold" + ] + }, + { + "gard_id": "GARD:0007337", + "name": "Paroxysmal nocturnal hemoglobinuria", + "synonyms": [ + "PNH", + "Marchiafava-Micheli disease" + ] + }, + { + "gard_id": "GARD:0007338", + "name": "Progressive hemifacial atrophy", + "synonyms": [ + "Parry-Romberg syndrome", + "Hemifacial atrophy, progressive", + "Romberg hemi-facial atrophy" + ] + }, + { + "gard_id": "GARD:0007339", + "name": "Pars planitis", + "synonyms": [ + "Intermediate uveitis", + "Peripheral retinal inflammation", + "Vitritis" + ] + }, + { + "gard_id": "GARD:0007341", + "name": "Trisomy 13", + "synonyms": [ + "Patau syndrome", + "Chromosome 13, trisomy 13 complete", + "Complete trisomy 13 syndrome", + "D trisomy syndrome (formerly)" + ] + }, + { + "gard_id": "GARD:0007342", + "name": "Patent ductus arteriosus", + "synonyms": [ + "PDA", + "PDA1", + "Patency of the ductus arteriosus", + "Patent ductus arteriosus familial (type)" + ] + }, + { + "gard_id": "GARD:0007343", + "name": "Pearson syndrome", + "synonyms": [ + "Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)", + "Pearson's marrow/pancreas syndrome", + "Pearson's syndrome", + "Pearson marrow-pancreas syndrome" + ] + }, + { + "gard_id": "GARD:0007346", + "name": "Pediatric T-cell leukemia", + "synonyms": [ + "T-cell childhood leukemia" + ] + }, + { + "gard_id": "GARD:0007347", + "name": "Peeling skin syndrome", + "synonyms": [ + "Keratolysis exfoliativa congenita", + "Familial continuous skin peeling", + "Skin peeling syndrome", + "Deciduous skin", + "Familial continuous skin peeling syndrome", + "Idiopathic deciduous skin", + "Keratosis exfoliativa congenita", + "Peeling skin disease", + "PSS" + ] + }, + { + "gard_id": "GARD:0007348", + "name": "Cerebral sclerosis similar to Pelizaeus-Merzbacher disease", + "synonyms": null + }, + { + "gard_id": "GARD:0007350", + "name": "Pelvic lipomatosis", + "synonyms": [ + "Excess of mature unencapsulated fatty tissue in the pelvis" + ] + }, + { + "gard_id": "GARD:0007352", + "name": "Pemphigus", + "synonyms": null + }, + { + "gard_id": "GARD:0007353", + "name": "Pemphigus and fogo selvagem", + "synonyms": [ + "Endemic pemphigus foliaceus", + "FS", + "Brazilian pemphigus", + "South American pemphigus", + "Brazilian pemphigus foliaceus" + ] + }, + { + "gard_id": "GARD:0007354", + "name": "Pemphigus foliaceus", + "synonyms": [ + "PF" + ] + }, + { + "gard_id": "GARD:0007355", + "name": "Pemphigus vulgaris", + "synonyms": null + }, + { + "gard_id": "GARD:0007359", + "name": "Pentalogy of Cantrell", + "synonyms": [ + "Cantrell pentalogy", + "Cantrell Haller Ravitsch syndrome", + "Cantrell syndrome", + "Cantrell deformity", + "Thoraco-abdominal syndrome" + ] + }, + { + "gard_id": "GARD:0007360", + "name": "Polyarteritis nodosa", + "synonyms": [ + "PAN", + "Periarteritis", + "Polyarteritis" + ] + }, + { + "gard_id": "GARD:0007361", + "name": "Perilymphatic fistula", + "synonyms": [ + "Perilymph fistula", + "Labyrinthine fistula" + ] + }, + { + "gard_id": "GARD:0007366", + "name": "Supratentorial primitive neuroectodermal tumor", + "synonyms": [ + "Supratentorial Embryonal Tumor, Not Otherwise Specified" + ] + }, + { + "gard_id": "GARD:0007368", + "name": "Peripheral T-cell lymphoma", + "synonyms": null + }, + { + "gard_id": "GARD:0007371", + "name": "X-linked periventricular heterotopia", + "synonyms": [ + "Heterotopia periventricular X-linked dominant", + "Periventricular nodular heterotopia 1", + "Heterotopia familial nodular", + "Nodular heterotopia bilateral periventricular", + "NHBP", + "Bilateral periventricular nodular heterotopia", + "BPNH", + "PVNH1" + ] + }, + { + "gard_id": "GARD:0007373", + "name": "Perniosis", + "synonyms": [ + "Chilblains", + "Idiopathic perniosis", + "Cold-induced painful or pruritic erythematous or violaceous acral papular or nodular lesions", + "Pernio" + ] + }, + { + "gard_id": "GARD:0007375", + "name": "Persistent truncus arteriosus", + "synonyms": null + }, + { + "gard_id": "GARD:0007377", + "name": "Peters anomaly", + "synonyms": null + }, + { + "gard_id": "GARD:0007378", + "name": "Peutz-Jeghers syndrome", + "synonyms": [ + "Polyposis, hamartomatous intestinal", + "PJS", + "Polyps-and-spots syndrome", + "Peutz Jeghers polyposis", + "Periorificial lentiginosis syndrome", + "Lentiginosis, perioral" + ] + }, + { + "gard_id": "GARD:0007380", + "name": "Pfeiffer syndrome", + "synonyms": [ + "ACS5", + "Pfeiffer type acrocephalosyndactyly", + "Acrocephalosyndactyly, type 5", + "Acrocephalosyndactyly type 5", + "Noack syndrome", + "ACSV", + "Craniofacial-skeletal-dermatologic syndrome", + "Craniofacial-skeletal-dermatologic dysplasia" + ] + }, + { + "gard_id": "GARD:0007381", + "name": "Liddle syndrome", + "synonyms": [ + "Pseudoaldosteronism", + "Liddle's syndrome" + ] + }, + { + "gard_id": "GARD:0007383", + "name": "Phenylketonuria", + "synonyms": [ + "PKU", + "Phenylalanine hydroxylase deficiency", + "Oligophrenia phenylpyruvica", + "Folling disease" + ] + }, + { + "gard_id": "GARD:0007385", + "name": "Pheochromocytoma", + "synonyms": [ + "Adrenal Gland Chromaffin Paraganglioma", + "Adrenal Gland Chromaffinoma", + "Adrenal Gland Paraganglioma", + "Intraadrenal Paraganglioma", + "Chromaffin Paraganglioma of the Adrenal Gland", + "Adrenal Gland Pheochromocytoma" + ] + }, + { + "gard_id": "GARD:0007386", + "name": "Philadelphia-negative chronic myeloid leukemia", + "synonyms": null + }, + { + "gard_id": "GARD:0007387", + "name": "Roberts syndrome", + "synonyms": [ + "SC phocomelia syndrome (mild variant of Roberts syndrome)", + "Roberts-SC phocomelia syndrome", + "Roberts tetraphocomelia syndrome", + "Pseudothalidomide syndrome", + "Appelt-Gerken-Lenz syndrome", + "Hypomelia hypotrichosis facial hemangioma syndrome", + "Tetraphocomelia-cleft palate syndrome", + "Roberts syndrome/SC phocomelia", + "Long bone deficiencies associated with cleft lip-palate", + "RBS" + ] + }, + { + "gard_id": "GARD:0007389", + "name": "Phosphoglycerate kinase deficiency", + "synonyms": [ + "PGK deficiency", + "Phosphoglycerate kinase 1 deficiency", + "PGK1 deficiency" + ] + }, + { + "gard_id": "GARD:0007392", + "name": "Behavioral variant of frontotemporal dementia", + "synonyms": [ + "Pick disease of the brain", + "Lobar atrophy of the brain", + "Dementia with lobar atrophy and neuronal cytoplasmic inclusions", + "bvFTD", + "Pick's disease" + ] + }, + { + "gard_id": "GARD:0007396", + "name": "Pigmented villonodular synovitis", + "synonyms": [ + "Localized pigmented villonodular synovitis", + "Diffuse pigmented villonodular synovitis", + "Tenosynovial giant cell tumors", + "Diffuse-type GCT", + "Diffuse-type giant cell tumor", + "Tenosynovial giant cell tumor", + "TGCT", + "TSGCT" + ] + }, + { + "gard_id": "GARD:0007397", + "name": "Pinta", + "synonyms": [ + "Endemic treponematosis caused by Treponema carateum", + "Azul", + "Lota", + "Tina", + "Carate", + "Empeines", + "Mal del Pinto" + ] + }, + { + "gard_id": "GARD:0007399", + "name": "Isolated growth hormone deficiency type 1A", + "synonyms": [ + "IGHD IA", + "IGHD1A", + "Growth hormone deficiency, isolated autosomal recessive", + "ILLIG type growth hormone deficiency", + "Primordial dwarfism", + "Sexual ateleiotic dwarfism", + "Pituitary dwarfism 1", + "Congenital isolated growth hormone deficiency type IA", + "Congenital isolated GH deficiency type IA", + "Congenital IGHD type IA", + "Isolated growth hormone deficiency type IA", + "Congenital IGHD", + "Congenital isolated GH deficiency", + "Congenital isolated growth hormone deficiency", + "Non-acquired isolated growth hormone deficiency" + ] + }, + { + "gard_id": "GARD:0007400", + "name": "Pityriasis lichenoides chronica", + "synonyms": null + }, + { + "gard_id": "GARD:0007401", + "name": "Pityriasis rubra pilaris", + "synonyms": null + }, + { + "gard_id": "GARD:0007402", + "name": "Placenta disorder", + "synonyms": [ + "Placenta Diseases" + ] + }, + { + "gard_id": "GARD:0007403", + "name": "Trophoblastic tumor placental site", + "synonyms": [ + "Placenta neoplasm" + ] + }, + { + "gard_id": "GARD:0007404", + "name": "Anaplastic plasmacytoma", + "synonyms": [ + "Anaplastic skeletal plasmacytoma (type)" + ] + }, + { + "gard_id": "GARD:0007406", + "name": "Plexosarcoma", + "synonyms": [ + "Gastrointestinal autonomic nerve tumor" + ] + }, + { + "gard_id": "GARD:0007409", + "name": "Pneumocystis jirovecii pneumonia", + "synonyms": [ + "Pneumocystis pneumonia", + "Pneumocystis carinii pneumonia (former)" + ] + }, + { + "gard_id": "GARD:0007411", + "name": "POEMS syndrome", + "synonyms": [ + "Polyneuropathy organomegaly", + "Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes syndrome", + "Crow-Fukase syndrome" + ] + }, + { + "gard_id": "GARD:0007412", + "name": "Poland syndrome", + "synonyms": [ + "Poland anomaly", + "Poland syndactyly", + "Poland sequence", + "Unilateral defect of pectoralis muscle and syndactyly of the hand", + "Poland's syndrome" + ] + }, + { + "gard_id": "GARD:0007413", + "name": "Poliomyelitis", + "synonyms": [ + "Polio", + "Infantile paralysis" + ] + }, + { + "gard_id": "GARD:0007415", + "name": "Cutaneous polyarteritis nodosa", + "synonyms": null + }, + { + "gard_id": "GARD:0007417", + "name": "Relapsing polychondritis", + "synonyms": [ + "Chronic atrophic polychondritis", + "Recurrent polychondritis", + "Polychondropathia" + ] + }, + { + "gard_id": "GARD:0007422", + "name": "Polycythemia vera", + "synonyms": [ + "Polycythemia rubra vera", + "PRV", + "PV", + "Primary polycythemia" + ] + }, + { + "gard_id": "GARD:0007425", + "name": "Polymyositis", + "synonyms": null + }, + { + "gard_id": "GARD:0007430", + "name": "Porencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0007431", + "name": "Eccrine porocarcinoma", + "synonyms": [ + "Porocarcinoma", + "Eccrine porocarcinoma of skin", + "Malignant eccrine poroma" + ] + }, + { + "gard_id": "GARD:0007433", + "name": "Porphyria cutanea tarda", + "synonyms": [ + "Porphyria, hepatic" + ] + }, + { + "gard_id": "GARD:0007437", + "name": "Post-traumatic epilepsy", + "synonyms": null + }, + { + "gard_id": "GARD:0007439", + "name": "Posterior urethral valves", + "synonyms": null + }, + { + "gard_id": "GARD:0007444", + "name": "Smallpox", + "synonyms": [ + "Variola" + ] + }, + { + "gard_id": "GARD:0007446", + "name": "Precocious puberty", + "synonyms": [ + "Sexual precocity", + "Idiopathic sexual precocity", + "Familial precocious puberty" + ] + }, + { + "gard_id": "GARD:0007455", + "name": "Primary agammaglobulinemia", + "synonyms": [ + "Antibody Deficiency", + "Gammaglobulin Deficiency", + "Immunoglobulin Deficiency" + ] + }, + { + "gard_id": "GARD:0007459", + "name": "Primary biliary cholangitis", + "synonyms": [ + "PBC", + "Familial primary biliary cirrhosis", + "Primary Biliary Cirrhosis" + ] + }, + { + "gard_id": "GARD:0007465", + "name": "Prinzmetal's variant angina", + "synonyms": [ + "Prinzmetal angina", + "Variant angina", + "Angina inversa", + "Vasospastic angina", + "Coronary artery vasospasm" + ] + }, + { + "gard_id": "GARD:0007467", + "name": "Progeria", + "synonyms": [ + "Hutchinson Gilford progeria syndrome", + "Hutchinson Gilford syndrome", + "HGPS" + ] + }, + { + "gard_id": "GARD:0007468", + "name": "Progressive multifocal leukoencephalopathy", + "synonyms": [ + "Leukoencephalopathy, progressive multifocal", + "PML" + ] + }, + { + "gard_id": "GARD:0007471", + "name": "Progressive supranuclear palsy", + "synonyms": [ + "Supranuclear palsy, progressive", + "PSP", + "Steele-Richardson-Olszewski Syndrome", + "Familial progressive supranuclear palsy (type)" + ] + }, + { + "gard_id": "GARD:0007473", + "name": "Prolidase deficiency", + "synonyms": [ + "Hyperimidodipeptiduria", + "Imidodipeptidase deficiency", + "Peptidase deficiency", + "PD" + ] + }, + { + "gard_id": "GARD:0007475", + "name": "Proteus syndrome", + "synonyms": [ + "Hemihypertrophy and macrocephaly", + "Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly", + "Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" + ] + }, + { + "gard_id": "GARD:0007476", + "name": "Protoporphyria", + "synonyms": null + }, + { + "gard_id": "GARD:0007479", + "name": "Prune belly syndrome", + "synonyms": [ + "Eagle-Barrett syndrome", + "Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism" + ] + }, + { + "gard_id": "GARD:0007480", + "name": "Prurigo nodularis", + "synonyms": [ + "Nodular prurigo" + ] + }, + { + "gard_id": "GARD:0007482", + "name": "Pseudocholinesterase deficiency", + "synonyms": [ + "Succinylcholine Sensitivity", + "Apnea, Postanesthetic", + "Cholinesterase 2 Deficiency", + "Pseudocholinesterase E1", + "Suxamethonium Sensitivity", + "Butyrylcholinesterase deficiency" + ] + }, + { + "gard_id": "GARD:0007486", + "name": "Pseudohypoparathyroidism type 1A", + "synonyms": [ + "PHP1A", + "Albright hereditary osteodystrophy with multiple hormone resistance" + ] + }, + { + "gard_id": "GARD:0007487", + "name": "Pseudomonas stutzeri infections", + "synonyms": null + }, + { + "gard_id": "GARD:0007488", + "name": "Pseudomyxoma peritonei", + "synonyms": [ + "PMP", + "Syndrome of pseudomyxoma peritonei", + "Adenomucinosis", + "Gelatinous ascites" + ] + }, + { + "gard_id": "GARD:0007492", + "name": "Psittacosis", + "synonyms": [ + "Chlamydial pneumonia", + "Ornithosis", + "Chlamydia psittaci" + ] + }, + { + "gard_id": "GARD:0007499", + "name": "Autoimmune pulmonary alveolar proteinosis", + "synonyms": [ + "PAP", + "Pulmonary alveolar lipoproteinosis acquired", + "PAP acquired", + "Pulmonary alveolar proteinosis autoimmune", + "Pulmonary alveolar proteinosis acquired", + "Acquired pulmonary alveolar proteinosis" + ] + }, + { + "gard_id": "GARD:0007501", + "name": "Pulmonary arterial hypertension", + "synonyms": [ + "Primary pulmonary hypertension", + "PPH", + "PAH", + "Idiopathic pulmonary arterial hypertension", + "Idiopathic pulmonary hypertension", + "Heritable pulmonary arterial hypertension", + "Hereditary pulmonary arterial hypertension", + "Familial pulmonary arterial hypertension", + "FPAH" + ] + }, + { + "gard_id": "GARD:0007503", + "name": "Punctate inner choroidopathy", + "synonyms": [ + "PIC", + "Punctate inner choroiditis", + "Multifocal inner choroiditis" + ] + }, + { + "gard_id": "GARD:0007504", + "name": "Pure red cell aplasia", + "synonyms": [ + "PRCA" + ] + }, + { + "gard_id": "GARD:0007510", + "name": "Pyoderma gangrenosum", + "synonyms": null + }, + { + "gard_id": "GARD:0007512", + "name": "Pyruvate carboxylase deficiency", + "synonyms": [ + "PC deficiency", + "Ataxia with lactic acidosis 2", + "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency", + "Leigh syndrome due to pyruvate carboxylase deficiency" + ] + }, + { + "gard_id": "GARD:0007513", + "name": "Pyruvate dehydrogenase complex deficiency", + "synonyms": [ + "Pyruvate dehydrogenase deficiency", + "PDHC", + "PDH deficiency", + "PDC deficiency", + "PDH" + ] + }, + { + "gard_id": "GARD:0007514", + "name": "Pyruvate kinase deficiency", + "synonyms": [ + "Pyruvate kinase deficiency of red cells", + "Pyruvate kinase deficiency of erythrocytes", + "PK deficiency" + ] + }, + { + "gard_id": "GARD:0007515", + "name": "Q fever", + "synonyms": [ + "Q fever pneumonia", + "Coxiella Burnetii fever", + "Query fever" + ] + }, + { + "gard_id": "GARD:0007516", + "name": "Rabies", + "synonyms": [ + "Lyssa" + ] + }, + { + "gard_id": "GARD:0007517", + "name": "Radiation induced angiosarcoma of the breast", + "synonyms": [ + "Post-irradiation angiosarcoma of the breast", + "RIA" + ] + }, + { + "gard_id": "GARD:0007519", + "name": "Radiation induced cancer", + "synonyms": [ + "Radiation related cancer" + ] + }, + { + "gard_id": "GARD:0007523", + "name": "Ramon Syndrome", + "synonyms": [ + "Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth", + "Gingival fibromatosis combined with cherubism" + ] + }, + { + "gard_id": "GARD:0007525", + "name": "Herpes zoster oticus", + "synonyms": [ + "Ramsay Hunt syndrome type 2 (formerly)", + "Hunt's syndrome (formerly)", + "Hunt syndrome (formerly)", + "Ramsay Hunt syndrome", + "Facial nerve palsy due to herpes zoster infection", + "Facial nerve palsy due to VZV", + "Facial nerve paralysis due to VZV", + "Geniculate neuralgia", + "Nervus intermedius neuralgia" + ] + }, + { + "gard_id": "GARD:0007527", + "name": "Rasmussen encephalitis", + "synonyms": [ + "RE" + ] + }, + { + "gard_id": "GARD:0007548", + "name": "Renal glycosuria", + "synonyms": [ + "Renal glucosuria" + ] + }, + { + "gard_id": "GARD:0007551", + "name": "Renal rickets", + "synonyms": null + }, + { + "gard_id": "GARD:0007552", + "name": "Renal tubular acidosis", + "synonyms": null + }, + { + "gard_id": "GARD:0007555", + "name": "Renoprival hypertension", + "synonyms": null + }, + { + "gard_id": "GARD:0007559", + "name": "Reticuloendotheliosis", + "synonyms": [ + "Reticuloendotheliosis, X-linked" + ] + }, + { + "gard_id": "GARD:0007563", + "name": "Retinoblastoma", + "synonyms": [ + "RB", + "Retinal tumor", + "Retinal cancer", + "Eye cancer, retinoblastoma" + ] + }, + { + "gard_id": "GARD:0007570", + "name": "Reye syndrome", + "synonyms": [ + "Fatty Liver with Encephalopathy", + "RS", + "Reye's Syndrome" + ] + }, + { + "gard_id": "GARD:0007572", + "name": "Rhabdoid tumor", + "synonyms": [ + "Rhabdoid sarcoma", + "Malignant rhabdoid tumor", + "RHABDOID TUMOR PREDISPOSITION SYNDROME 1", + "BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL", + "Rhabdoid tumor predisposition syndrome 2", + "Atypical teratoid rhabdoid tumor" + ] + }, + { + "gard_id": "GARD:0007577", + "name": "Rheumatoid vasculitis", + "synonyms": null + }, + { + "gard_id": "GARD:0007578", + "name": "Richter syndrome", + "synonyms": [ + "Richter transformation" + ] + }, + { + "gard_id": "GARD:0007581", + "name": "Familial dysautonomia", + "synonyms": [ + "Dysautonomia, familial", + "FD", + "Hereditary sensory neuropathy type 3", + "Hereditary sensory and autonomic neuropathy 3", + "HSAN 3", + "HSN 3", + "Riley Day syndrome" + ] + }, + { + "gard_id": "GARD:0007585", + "name": "Rocky mountain spotted fever", + "synonyms": [ + "RMSF" + ] + }, + { + "gard_id": "GARD:0007588", + "name": "Rosai-Dorfman disease", + "synonyms": [ + "RDD", + "Sinus histiocytosis with massive lymphadenopathy", + "SHML", + "Rosaï-Dorfman disease" + ] + }, + { + "gard_id": "GARD:0007593", + "name": "Rubinstein-Taybi syndrome", + "synonyms": [ + "Rubinstein syndrome", + "Broad thumbs and great toes, characteristic facies, and mental retardation", + "RSTS", + "Broad thumb-hallux syndrome", + "Broad thumbs-halluces syndrome" + ] + }, + { + "gard_id": "GARD:0007594", + "name": "Rumination disorder", + "synonyms": [ + "Rumination syndrome" + ] + }, + { + "gard_id": "GARD:0007597", + "name": "Sacral plexopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0007598", + "name": "Saethre-Chotzen syndrome", + "synonyms": [ + "Acrocephalo-syndactyly, type 3", + "ACS3", + "Chotzen syndrome", + "Acrocephaly, skull asymmetry, and mild syndactyly", + "ACS 3", + "Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", + "Acrocephalosyndactyly type 3", + "SCS" + ] + }, + { + "gard_id": "GARD:0007604", + "name": "Sandhoff disease", + "synonyms": [ + "Beta-hexosaminidase-beta-subunit deficiency", + "GM2 gangliosidosis, type 2", + "Total hexosaminidase deficiency", + "Hexosaminidase A and B deficiency Disease", + "Sandhoff-Jatzkewitz-Pilz disease" + ] + }, + { + "gard_id": "GARD:0007606", + "name": "SAPHO syndrome", + "synonyms": [ + "Acquired hyperostosis syndrome", + "Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis", + "Synovitis acne pustulosis hyperostosis osteitis" + ] + }, + { + "gard_id": "GARD:0007608", + "name": "X-linked dominant scapuloperoneal myopathy", + "synonyms": [ + "Scapuloperoneal myopathy, X-linked dominant", + "Scapuloperoneal myopathy, FHL1-related", + "SPM", + "X-linked scapuloperoneal muscular dystrophy", + "X-linked scapuloperoneal syndrome", + "X-linked SPMD" + ] + }, + { + "gard_id": "GARD:0007609", + "name": "Pigmented purpuric dermatosis", + "synonyms": [ + "Schamberg disease", + "Familial pigmented purpuric eruption", + "Schamberg purpura", + "Pigmented purpura", + "Progressive pigmented purpura", + "Pigmented purpuric eruption" + ] + }, + { + "gard_id": "GARD:0007610", + "name": "Scheuermann disease", + "synonyms": [ + "Juvenile kyphosis", + "Scheuermann kyphosis", + "Familial Scheuermann juvenile kyphosis", + "Familial spinal osteochondrosis", + "Familial Scheuermann disease" + ] + }, + { + "gard_id": "GARD:0007611", + "name": "Autoimmune polyglandular syndrome type 2", + "synonyms": [ + "Diabetes mellitus, Addison's disease, myxedema", + "Multiple endocrine deficiency syndrome, type 2", + "Polyglandular autoimmune syndrome, type 2", + "Autoimmune polyendocrine syndrome type 2", + "Schmidt syndrome", + "Schmidt's syndrome", + "APS2", + "PGA 2", + "Polyglandular deficiency syndrome type 2", + "Autoimmune polyglandular syndrome type II", + "PGA-II" + ] + }, + { + "gard_id": "GARD:0007615", + "name": "Scleromyxedema", + "synonyms": [ + "Arndt-Gottron disease", + "Generalized lichenoid papular eruption", + "Generalized papular and sclerodermoid", + "Generalized papular and sclerodermoid lichen myxedematosus" + ] + }, + { + "gard_id": "GARD:0007617", + "name": "Kuru", + "synonyms": null + }, + { + "gard_id": "GARD:0007624", + "name": "Selenium poisoning", + "synonyms": null + }, + { + "gard_id": "GARD:0007627", + "name": "Septo-optic dysplasia spectrum", + "synonyms": [ + "Septooptic dysplasia", + "De morsier syndrome", + "Septo-optic dysplasia with growth hormone deficiency", + "Hypopituitarism and septooptic 'dysplasia'", + "SOD", + "Septo-optic dysplasia" + ] + }, + { + "gard_id": "GARD:0007628", + "name": "Severe combined immunodeficiency", + "synonyms": [ + "SCID" + ] + }, + { + "gard_id": "GARD:0007629", + "name": "Sezary syndrome", + "synonyms": [ + "Sezary's lymphoma", + "Sézary syndrome" + ] + }, + { + "gard_id": "GARD:0007630", + "name": "Sheehan syndrome", + "synonyms": [ + "Postpartum hypopituitarism", + "Postpartum panhypopituitarism", + "Postpartum panhypopituitary syndrome", + "Postpartum pituitary necrosis", + "Simmond's disease" + ] + }, + { + "gard_id": "GARD:0007633", + "name": "SHORT syndrome", + "synonyms": [ + "Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay", + "Aarskog-Ose-Pande syndrome", + "Partial lipodystrophy with Rieger anomaly and short stature" + ] + }, + { + "gard_id": "GARD:0007636", + "name": "Shwartzman phenomenon", + "synonyms": null + }, + { + "gard_id": "GARD:0007638", + "name": "Sialadenitis", + "synonyms": [ + "Sialoadenitis", + "Adenitis, salivary gland", + "Salivary gland inflammation" + ] + }, + { + "gard_id": "GARD:0007639", + "name": "Sialidosis type I", + "synonyms": [ + "Cherry red spot myoclonus syndrome", + "Myoclonus cherry red spot syndrome" + ] + }, + { + "gard_id": "GARD:0007645", + "name": "Siderosis", + "synonyms": null + }, + { + "gard_id": "GARD:0007647", + "name": "Silicosis", + "synonyms": [ + "Chronic silicosis", + "Accelerated silicosis", + "Acute silicosis", + "Experimental silicosis" + ] + }, + { + "gard_id": "GARD:0007648", + "name": "Simian B virus infection", + "synonyms": null + }, + { + "gard_id": "GARD:0007649", + "name": "Simpson-Golabi-Behmel syndrome", + "synonyms": [ + "SGBS1", + "Simpson dysmorphia syndrome", + "Bulldog syndrome", + "Golabi-Rosen syndrome", + "Dysplasia gigantism syndrome, X-linked", + "SGBS" + ] + }, + { + "gard_id": "GARD:0007650", + "name": "Sinus cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0007652", + "name": "Sirenomelia", + "synonyms": [ + "Mermaid malformation", + "Fused legs and feet", + "Sirenomelus", + "Sirenomelia sequence", + "Mermaid syndrome" + ] + }, + { + "gard_id": "GARD:0007653", + "name": "Sitosterolemia", + "synonyms": [ + "Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body", + "Phytosterolemia", + "Plant sterol storage disease" + ] + }, + { + "gard_id": "GARD:0007654", + "name": "Sjogren-Larsson syndrome", + "synonyms": [ + "SLS", + "Fatty aldehyde dehydrogenase deficiency", + "FALDH deficiency", + "FADH deficiency", + "FAO deficiency", + "Sjögren-Larsson syndrome", + "Sjogren Larsson syndrome", + "Ichthyosis, spastic neurologic disorder, and oligophrenia" + ] + }, + { + "gard_id": "GARD:0007664", + "name": "Sneddon syndrome", + "synonyms": [ + "Sneddon's syndrome", + "Livedo reticularis and cerebrovascular accidents", + "Cerebro-vascular lesions and livedo reticularis", + "Ehrmann-Sneddon syndrome", + "Livedo racemosa and cerebrovascular accidents", + "Livedo racemosa-cerebrovascular accident syndrome", + "Livedo reticularis-cerebrovascular accident syndrome" + ] + }, + { + "gard_id": "GARD:0007668", + "name": "Spasmodic dysphonia", + "synonyms": [ + "Abductor spasmodic dysphonia (type)", + "Mixed spasmodic dysphonia (type)", + "Adductor spasmodic dysphonia (type)", + "Laryngeal dyskinesia", + "Laryngeal dystonia", + "Spastic dysphonia" + ] + }, + { + "gard_id": "GARD:0007672", + "name": "Sphingolipidosis", + "synonyms": [ + "Sphingolipidoses" + ] + }, + { + "gard_id": "GARD:0007673", + "name": "Spina bifida", + "synonyms": [ + "Spinal dysraphism", + "Cleft spine", + "Open spine", + "Rachischisis", + "Isolated spina bifida" + ] + }, + { + "gard_id": "GARD:0007674", + "name": "Spinal muscular atrophy", + "synonyms": [ + "SMA" + ] + }, + { + "gard_id": "GARD:0007680", + "name": "Spinal shock", + "synonyms": null + }, + { + "gard_id": "GARD:0007682", + "name": "Spirochetes disease", + "synonyms": [ + "Spirochaetales Infections" + ] + }, + { + "gard_id": "GARD:0007683", + "name": "Splenic neoplasm", + "synonyms": [ + "Spleen neoplasm", + "Spleen cancer", + "Tumor of spleen" + ] + }, + { + "gard_id": "GARD:0007684", + "name": "Splenomegaly", + "synonyms": null + }, + { + "gard_id": "GARD:0007687", + "name": "Spondyloepiphyseal dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0007690", + "name": "Gerstmann-Straussler-Scheinker disease", + "synonyms": [ + "GSSD", + "Gerstmann Straussler Scheinker syndrome", + "Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system", + "Encephalopathy subacute spongiform Gerstmann-Straussler type", + "Amyloidosis cerebral with spongiform encephalopathy", + "Gerstmann-Straussler-Scheinker syndrome", + "Subacute spongiform encephalopathy, Gerstmann-Straussler type" + ] + }, + { + "gard_id": "GARD:0007692", + "name": "Sporotrichosis", + "synonyms": [ + "Rose gardener's disease" + ] + }, + { + "gard_id": "GARD:0007693", + "name": "Sprengel deformity", + "synonyms": [ + "Congenital upward displacement of the scapula", + "High scapula", + "Sprengel's shoulder", + "Congenital elevation of the scapula", + "Sprengel's deformity" + ] + }, + { + "gard_id": "GARD:0007695", + "name": "Succinic semialdehyde dehydrogenase deficiency", + "synonyms": [ + "4-hydroxybutyric aciduria", + "Gamma-hydroxybutyricaciduria", + "SSADH deficiency", + "GABA metabolic defect" + ] + }, + { + "gard_id": "GARD:0007700", + "name": "Stevens-Johnson syndrome/toxic epidermal necrolysis", + "synonyms": [ + "SJS/TEN", + "Drug-induced Stevens Johnson syndrome", + "Stevens-Johnson syndrome toxic epidermal necrolysis spectrum", + "Susceptibility to severe cutaneous adverse reaction ITY TO", + "Stevens-Johnson syndrome", + "Toxic epidermal necrolysis" + ] + }, + { + "gard_id": "GARD:0007704", + "name": "Stomach cancer", + "synonyms": [ + "Adult stomach cancer", + "Adult stomach carcinoma", + "Stomach carcinoma", + "Gastric cancer" + ] + }, + { + "gard_id": "GARD:0007706", + "name": "Sturge-Weber syndrome", + "synonyms": [ + "SWS", + "Sturge Weber syndrome", + "Encephalotrigeminal angiomatosis", + "Fourth phacomatosis", + "Meningeal capillary angiomatosis", + "Leptomeningeal angiomatosis", + "Encephalofacial angiomatosis", + "SWS type I - Facial and leptomeningeal angiomas", + "SWS type II - Facial angioma alone, no CNS involvement", + "SWS type III - Isolated leptomeningeal angiomas" + ] + }, + { + "gard_id": "GARD:0007708", + "name": "Subacute sclerosing panencephalitis", + "synonyms": [ + "SSPE", + "Dawson disease", + "Dawson Encephalitis" + ] + }, + { + "gard_id": "GARD:0007710", + "name": "Congenital sucrase-isomaltase deficiency", + "synonyms": [ + "CSID", + "Congenital sucrose-isomaltase malabsorption", + "Sucrose-isomaltase malabsorption, congenital", + "Disaccharide intolerance, 1", + "Sucrose intolerance congenital", + "SI deficiency", + "Sucrase-isomaltase deficiency, congenital" + ] + }, + { + "gard_id": "GARD:0007711", + "name": "Sudden infant death syndrome", + "synonyms": [ + "SIDS" + ] + }, + { + "gard_id": "GARD:0007712", + "name": "Superior mesenteric artery syndrome", + "synonyms": [ + "Vascular compression of the duodenum", + "Wilkie syndrome", + "Cast syndrome", + "Arteriomesenteric duodenal compression syndrome" + ] + }, + { + "gard_id": "GARD:0007713", + "name": "Susac syndrome", + "synonyms": [ + "Retinocochleocerebral vasculopathy", + "SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome" + ] + }, + { + "gard_id": "GARD:0007714", + "name": "Sutton disease 2", + "synonyms": [ + "Aphthous Stomatitis, Recurrent", + "Aphthous Ulcer, Recurrent", + "Major Aphthous Ulcer", + "Major Canker Sore", + "Recurrent Scarring Aphthae" + ] + }, + { + "gard_id": "GARD:0007716", + "name": "Sydenham's chorea", + "synonyms": [ + "St. Vitus dance", + "Sydenham chorea", + "Rheumatic chorea" + ] + }, + { + "gard_id": "GARD:0007720", + "name": "Synovial chondromatosis, familial with dwarfism", + "synonyms": null + }, + { + "gard_id": "GARD:0007721", + "name": "Synovial sarcoma", + "synonyms": [ + "Synovial cell sarcoma", + "Synovialosarcoma" + ] + }, + { + "gard_id": "GARD:0007722", + "name": "Synovitis", + "synonyms": null + }, + { + "gard_id": "GARD:0007724", + "name": "Syringobulbia", + "synonyms": null + }, + { + "gard_id": "GARD:0007725", + "name": "Syringomyelia", + "synonyms": null + }, + { + "gard_id": "GARD:0007730", + "name": "Takayasu arteritis", + "synonyms": [ + "TA", + "Young female arteritis", + "Takayasu disease", + "Pulseless disease", + "Aortic arch syndrome" + ] + }, + { + "gard_id": "GARD:0007731", + "name": "Tangier disease", + "synonyms": [ + "High density lipoprotein deficiency, type 1", + "HDLDT1", + "High density lipoprotein deficiency, Tangier type", + "Analphalipo-proteinemia", + "Alpha high density lipoprotein deficiency disease", + "A-alphalipoprotein neuropathy", + "Cholesterol thesaurismosis", + "Familial high density lipoprotein deficiency disease", + "Familial Hypoalphalipo-proteinemia", + "Hdl lipoprotein deficiency disease" + ] + }, + { + "gard_id": "GARD:0007733", + "name": "Tarsal tunnel syndrome", + "synonyms": [ + "Posterior Tibial Nerve Neuralgia", + "Neuropathy of the posterior tibial nerve and its branches" + ] + }, + { + "gard_id": "GARD:0007737", + "name": "Tay-Sachs disease", + "synonyms": [ + "GM2 gangliosidosis, type 1", + "HexA deficiency", + "B variant GM2 gangliosidosis", + "Hexosaminidase A deficiency", + "Hexosaminidase alpha-subunit deficiency (variant B)", + "Sphingolipidosis, Tay-Sachs", + "TSD", + "Gangliosidosis GM2 , type 1" + ] + }, + { + "gard_id": "GARD:0007744", + "name": "Malignant Teratocarcinosarcoma", + "synonyms": [ + "Sinonasal teratocarcinosarcoma (type)", + "Paranasal sinus teratocarcinosarcoma (type)" + ] + }, + { + "gard_id": "GARD:0007751", + "name": "Tetrahydrobiopterin deficiency", + "synonyms": [ + "BH4 deficiency", + "Hyperphenylalaninemia caused by a defect in biopterin metabolism", + "Hyperphenylalaninemia, non-phenylketonuric", + "Non-phenylketonuric hyperphenylalaninemia", + "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency", + "Hyperphenylalaninemia due to BH4 deficiency" + ] + }, + { + "gard_id": "GARD:0007754", + "name": "Tetrasomy X", + "synonyms": [ + "48 XXXX", + "48 XXXX syndrome", + "Tetra X", + "48,XXXX syndrome", + "Quadruple X" + ] + }, + { + "gard_id": "GARD:0007756", + "name": "Thalassemia", + "synonyms": null + }, + { + "gard_id": "GARD:0007760", + "name": "Thrombasthenia", + "synonyms": null + }, + { + "gard_id": "GARD:0007771", + "name": "Tick paralysis", + "synonyms": null + }, + { + "gard_id": "GARD:0007772", + "name": "Tietz syndrome", + "synonyms": [ + "Albinism-deafness of Tietz", + "Hypopigmentation/deafness of Tietz", + "Tietz albinism-deafness syndrome" + ] + }, + { + "gard_id": "GARD:0007776", + "name": "Togaviridae disease", + "synonyms": [ + "Togavirus infections", + "Togaviridae infection" + ] + }, + { + "gard_id": "GARD:0007777", + "name": "Tolosa Hunt syndrome", + "synonyms": [ + "THS", + "Painful ophthalmoplegia", + "Nonspecific inflammation of the cavernous sinus or superior orbital fissure", + "Tolosa-Hunt syndrome" + ] + }, + { + "gard_id": "GARD:0007779", + "name": "Tongue cancer", + "synonyms": [ + "Tongue carcinoma" + ] + }, + { + "gard_id": "GARD:0007781", + "name": "TORCH syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0007784", + "name": "Townes-Brocks syndrome", + "synonyms": [ + "TBS", + "Renal-ear-anal-radial syndrome", + "REAR syndrome", + "Anus, imperforate, with hand, foot and ear anomalies", + "Deafness, sensorineural, with imperforate anus and hypoplastic thumbs", + "Imperforate anus with hand, foot and ear anomalies", + "Sensorineural deafness with imperforate anus and hypoplastic thumbs", + "Townes syndrome", + "Imperforate anus-hand, foot and ear anomalies syndrome" + ] + }, + { + "gard_id": "GARD:0007791", + "name": "Tracheobronchomalacia", + "synonyms": [ + "TBM" + ] + }, + { + "gard_id": "GARD:0007792", + "name": "Tracheoesophageal fistula", + "synonyms": [ + "Tracheoesophageal fistula with or without esophageal atresia", + "TE fistula", + "TEF" + ] + }, + { + "gard_id": "GARD:0007793", + "name": "Transient erythroblastopenia of childhood", + "synonyms": [ + "Erythroblastopenia, transient", + "TEC", + "Familial transient erythroblastopenia of childhood" + ] + }, + { + "gard_id": "GARD:0007794", + "name": "Transitional cell carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0007795", + "name": "Transposition of the great arteries", + "synonyms": [ + "DTGA", + "Dextro-looped transposition of the great arteries" + ] + }, + { + "gard_id": "GARD:0007796", + "name": "Transverse myelitis", + "synonyms": null + }, + { + "gard_id": "GARD:0007798", + "name": "Treponema infection", + "synonyms": [ + "Treponemal infections" + ] + }, + { + "gard_id": "GARD:0007799", + "name": "Tricho-dento-osseous syndrome", + "synonyms": [ + "TDO syndrome", + "Enamel hypoplasia and hypocalcification with associated strikingly curly hair" + ] + }, + { + "gard_id": "GARD:0007800", + "name": "Trichorhinophalangeal syndrome type 1", + "synonyms": [ + "TRPS1", + "Giedion syndrome" + ] + }, + { + "gard_id": "GARD:0007801", + "name": "Trichorhinophalangeal syndrome type 2", + "synonyms": [ + "TRPS 2", + "Langer Giedion Syndrome", + "LGS", + "Deletion 8q24.1", + "Monosomy 8q24.1", + "Trichorhinophalangeal syndrome type II", + "Giedion-Langer syndrome" + ] + }, + { + "gard_id": "GARD:0007802", + "name": "Trichorhinophalangeal syndrome type 3", + "synonyms": [ + "TRPS 3", + "Sugio-Kajii Syndrome" + ] + }, + { + "gard_id": "GARD:0007805", + "name": "Trigeminal neuralgia", + "synonyms": [ + "Tic Douloureux" + ] + }, + { + "gard_id": "GARD:0007815", + "name": "Mosaic trisomy 6", + "synonyms": [ + "Trisomy 6 mosaicism" + ] + }, + { + "gard_id": "GARD:0007821", + "name": "Chromosome 9q duplication", + "synonyms": [ + "Duplication 9q", + "Trisomy 9q", + "9q duplication", + "9q trisomy", + "Partial trisomy 9q" + ] + }, + { + "gard_id": "GARD:0007824", + "name": "Tropical sprue", + "synonyms": [ + "Tropical enteropathy", + "Idiopathic tropical malabsorption syndrome" + ] + }, + { + "gard_id": "GARD:0007826", + "name": "Trypanosomiasis, Human East-African", + "synonyms": [ + "Sleeping sickness" + ] + }, + { + "gard_id": "GARD:0007828", + "name": "Tuberculous meningitis", + "synonyms": [ + "Tubercular meningitis", + "TB meningitis" + ] + }, + { + "gard_id": "GARD:0007829", + "name": "Tuberculous uveitis", + "synonyms": null + }, + { + "gard_id": "GARD:0007830", + "name": "Tuberous sclerosis complex", + "synonyms": [ + "Tuberous sclerosis", + "Bourneville syndrome" + ] + }, + { + "gard_id": "GARD:0007831", + "name": "Turner syndrome", + "synonyms": [ + "Ullrich-Turner syndrome", + "Bonnevie-Ulrich syndrome", + "45, X Syndrome", + "Chromosome X Monosomy X", + "Gonadal Dysgenesis (45,X)", + "Schereshevkii Turner Syndrome", + "Turner Varny Syndrome" + ] + }, + { + "gard_id": "GARD:0007833", + "name": "Typhus", + "synonyms": [ + "Jail fever", + "Brill-Zinsser disease", + "Endemic typhus", + "Epidemic typhus", + "Murine typhus" + ] + }, + { + "gard_id": "GARD:0007836", + "name": "Urachal cancer", + "synonyms": [ + "Urachal carcinoma" + ] + }, + { + "gard_id": "GARD:0007837", + "name": "Urea cycle disorders", + "synonyms": [ + "UCD" + ] + }, + { + "gard_id": "GARD:0007842", + "name": "Cutaneous mastocytosis", + "synonyms": [ + "Mastocytoma" + ] + }, + { + "gard_id": "GARD:0007843", + "name": "Usher syndrome", + "synonyms": [ + "Deafness-retinitis pigmentosa syndrome", + "Dystrophia retinae pigmentosa-dysostosis syndrome", + "Graefe-Usher syndrome", + "Hallgren syndrome", + "Usher's syndrome" + ] + }, + { + "gard_id": "GARD:0007845", + "name": "Valinemia", + "synonyms": [ + "Valine transaminase deficiency", + "Hypervalinemia" + ] + }, + { + "gard_id": "GARD:0007846", + "name": "Van der Woude syndrome 2", + "synonyms": [ + "VWS2" + ] + }, + { + "gard_id": "GARD:0007848", + "name": "Variegate porphyria", + "synonyms": [ + "Porphyria variegate", + "VP", + "Porphyria, South African type", + "Protoporphyrinogen oxidase deficiency", + "PPOX deficiency" + ] + }, + { + "gard_id": "GARD:0007851", + "name": "Hypersensitivity vasculitis", + "synonyms": [ + "Leukocytoclastic angiitis", + "Cutaneous leukocytoclastic angiitis", + "Cutaneous leukocytoclastic vasculitis", + "Cutaneous small vessel vasculitis", + "Hypersensitivity angiitis" + ] + }, + { + "gard_id": "GARD:0007853", + "name": "Ventricular septal defects", + "synonyms": [ + "Heart septal defects, ventricular" + ] + }, + { + "gard_id": "GARD:0007854", + "name": "Vernal keratoconjunctivitis", + "synonyms": [ + "VKC" + ] + }, + { + "gard_id": "GARD:0007855", + "name": "Von Hippel-Lindau disease", + "synonyms": [ + "VHL syndrome", + "VHL", + "Von Hippel-Lindau disease", + "Von Hippel-Lindau syndrome" + ] + }, + { + "gard_id": "GARD:0007857", + "name": "Virus associated hemophagocytic syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0007860", + "name": "Pseudopseudohypoparathyroidism", + "synonyms": [ + "PPHP", + "Albright hereditary osteodystrophy without multiple hormone resistance", + "Pseudopseudo-Hypoparathyroidism", + "Pseudo-Pseudohypoparathyroidism" + ] + }, + { + "gard_id": "GARD:0007862", + "name": "Vogt-Koyanagi-Harada disease", + "synonyms": [ + "VKH syndrome", + "Vogt-Koyanagi-Harada syndrome", + "Uveomenigitic syndrome", + "VKH disease" + ] + }, + { + "gard_id": "GARD:0007864", + "name": "Glycogen storage disease type 1A", + "synonyms": [ + "GSD1", + "Glycogen storage disease 1A", + "Von Gierke disease", + "Glycogenosis type 1", + "Hepatorenal form of glycogen storage disease", + "Glucose-6-phosphatase deficiency", + "Hepatorenal glycogenosis", + "Glucose-6-phosphatase deficiency glycogen storage disease" + ] + }, + { + "gard_id": "GARD:0007866", + "name": "Neurofibromatosis type 1", + "synonyms": [ + "NF1", + "Type 1 neurofibromatosis", + "Recklinghausen's disease", + "Von Recklinghausen disease" + ] + }, + { + "gard_id": "GARD:0007871", + "name": "Wagner syndrome", + "synonyms": [ + "Wagner syndrome type 1", + "Wagner vitreoretinal degeneration", + "Hyaloideoretinal degeneration of Wagner", + "WGN1", + "Erosive vitreoretinopathy", + "ERVR", + "Wagner disease (formerly)" + ] + }, + { + "gard_id": "GARD:0007872", + "name": "Waldenstrom macroglobulinemia", + "synonyms": [ + "Waldenstrom's macroglobulinaemia", + "Lymphoplasmacytic lymphoma", + "Waldenstrom's syndrome", + "Macroglobulinemia of Waldenstrom" + ] + }, + { + "gard_id": "GARD:0007873", + "name": "Primary intestinal lymphangiectasia", + "synonyms": [ + "Waldmann's disease", + "Primary intestinal lymphangiectasis", + "Familial Waldmann's disease (type)", + "Waldmann disease" + ] + }, + { + "gard_id": "GARD:0007875", + "name": "Wallerian degeneration", + "synonyms": [ + "Wallerian degeneration of the pyramidal tract" + ] + }, + { + "gard_id": "GARD:0007876", + "name": "Warm antibody hemolytic anemia", + "synonyms": [ + "Warm-reacting-antibody hemolytic anemia", + "Warm antibody autoimmune hemolytic anemia", + "Warm antibody AIHA" + ] + }, + { + "gard_id": "GARD:0007877", + "name": "Watermelon stomach", + "synonyms": [ + "Gastric antral vascular ectasia", + "GAVE" + ] + }, + { + "gard_id": "GARD:0007878", + "name": "Weaver syndrome", + "synonyms": [ + "Weaver Smith syndrome", + "WSS", + "Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly", + "EZH2 Related Overgrowth", + "Camptodactyly - overgrowth - unusual facies", + "Camptodactyly-overgrowth-unusual facies syndrome", + "Weaver like syndrome" + ] + }, + { + "gard_id": "GARD:0007879", + "name": "Nodular nonsuppurative panniculitis", + "synonyms": [ + "Panniculitis nodular nonsuppurative", + "Weber-Christian panniculitis", + "Idiopathic nodular panniculitis", + "Relapsing febrile nodular nonsuppurative panniculitis", + "Pfeiffer-Weber-Christian syndrome" + ] + }, + { + "gard_id": "GARD:0007880", + "name": "Granulomatosis with polyangiitis", + "synonyms": [ + "WG", + "Wegener granulomatosis", + "Midline granulomatosis", + "GPA" + ] + }, + { + "gard_id": "GARD:0007881", + "name": "Leptospirosis", + "synonyms": [ + "Weil Disease", + "Canicola fever", + "Stuttgart disease", + "Hemorrhagic jaundice", + "Mud fever", + "Swamp fever", + "Cane-cutter fever", + "Rice-field fever", + "Swineherd's disease", + "Icterohemorrhagic fever" + ] + }, + { + "gard_id": "GARD:0007883", + "name": "Spinal muscular atrophy 1", + "synonyms": [ + "Werdnig-Hoffmann disease", + "Werdnig Hoffmann disease", + "Muscular atrophy, infantile", + "SMA1", + "SMA, infantile acute form", + "Proximal spinal muscular atrophy, type 1", + "Proximal spinal muscular atrophy type 1", + "SMA type 1", + "SMA type I", + "SMA-I" + ] + }, + { + "gard_id": "GARD:0007885", + "name": "Werner syndrome", + "synonyms": [ + "WRN", + "Werner's syndrome" + ] + }, + { + "gard_id": "GARD:0007887", + "name": "West syndrome", + "synonyms": [ + "Infantile spasm", + "IS", + "X-linked infantile spasm syndrome", + "X-linked infantile spasms", + "West's syndrome", + "Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG" + ] + }, + { + "gard_id": "GARD:0007888", + "name": "Western equine encephalitis", + "synonyms": [ + "WEE", + "Western equine encephalomyelitis" + ] + }, + { + "gard_id": "GARD:0007889", + "name": "Whipple disease", + "synonyms": [ + "Intestinal lipodystrophy", + "Intestinal lipophagic granulomatosis", + "Secondary Non-tropical Sprue", + "Tropheryma whippelii infection" + ] + }, + { + "gard_id": "GARD:0007890", + "name": "Intellectual disability-developmental delay-contractures syndrome", + "synonyms": [ + "Contractures of feet, muscle atrophy, and oculomotor apraxia", + "Apraxia, oculomotor, with congenital contractures and muscle atrophy", + "Wieacker Wolff syndrome", + "WWS", + "Wieacker syndrome" + ] + }, + { + "gard_id": "GARD:0007891", + "name": "Williams syndrome", + "synonyms": [ + "Williams-Beuren syndrome", + "WBS", + "WMS", + "Deletion 7q11.23", + "Monosomy 7q11.23" + ] + }, + { + "gard_id": "GARD:0007892", + "name": "Wilms' tumor", + "synonyms": [ + "Nephroblastoma", + "WT1", + "Bilateral Wilms tumor" + ] + }, + { + "gard_id": "GARD:0007893", + "name": "Wilson disease", + "synonyms": [ + "Hepatolenticular degeneration", + "WND", + "WD" + ] + }, + { + "gard_id": "GARD:0007894", + "name": "Winchester syndrome", + "synonyms": [ + "Winchester disease", + "Winchester-Grossman Syndrome" + ] + }, + { + "gard_id": "GARD:0007895", + "name": "Wiskott Aldrich syndrome", + "synonyms": [ + "WAS", + "Eczema thrombocytopenia immunodeficiency syndrome", + "Immunodeficiency 2", + "IMD 2", + "Aldrich syndrome" + ] + }, + { + "gard_id": "GARD:0007896", + "name": "Wolf-Hirschhorn syndrome", + "synonyms": [ + "WHS", + "Wolf syndrome", + "Chromosome 4p syndrome", + "Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation", + "4p syndrome", + "Distal deletion 4p", + "Wittwer syndrome", + "Pitt-Rogers-Danks syndrome", + "4p- syndrome", + "Distal monosomy 4p", + "Telomeric deletion 4p" + ] + }, + { + "gard_id": "GARD:0007898", + "name": "Wolfram syndrome", + "synonyms": [ + "WFS", + "Diabetes insipidus and mellitus with optic atrophy and deafness", + "DIDMOAD", + "DIDMOAD syndrome" + ] + }, + { + "gard_id": "GARD:0007899", + "name": "Wolman disease", + "synonyms": [ + "Familial Xanthomatosis", + "Liposomal Acid Lipase Deficiency, Wolman Type" + ] + }, + { + "gard_id": "GARD:0007900", + "name": "Wyburn-Mason syndrome", + "synonyms": [ + "Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes", + "Wyburn Mason syndrome", + "Bonnet-Decaume-Blanc syndrome", + "CAMS2", + "Cerebrofacial arteriovenous metameric syndrome type 2" + ] + }, + { + "gard_id": "GARD:0007904", + "name": "X-linked ichthyosis", + "synonyms": [ + "Steroid sulfatase deficiency", + "SSD", + "SSDD", + "Steroid sulfatase deficiency disease", + "Placental steroid sulfatase deficiency", + "X linked ichthyosis" + ] + }, + { + "gard_id": "GARD:0007906", + "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency", + "synonyms": [ + "XLP1", + "Lymphoproliferative syndrome X-linked 1", + "Lymphoproliferative syndrome, X-linked, 1", + "SH2D1A-Related Lymphoproliferative Disease, X-Linked", + "X-linked lymphoproliferative syndrome 1" + ] + }, + { + "gard_id": "GARD:0007910", + "name": "Xeroderma pigmentosum", + "synonyms": [ + "XP", + "Xeroderma pigmentosa" + ] + }, + { + "gard_id": "GARD:0007913", + "name": "Yaws", + "synonyms": [ + "Frambesia tropica", + "Frambesia", + "Treponema pertenue infection", + "Endemic treponematoses" + ] + }, + { + "gard_id": "GARD:0007914", + "name": "Yellow fever", + "synonyms": [ + "YF" + ] + }, + { + "gard_id": "GARD:0007917", + "name": "Zellweger syndrome", + "synonyms": [ + "Cerebrohepatorenal syndrome", + "CHR", + "ZWS", + "ZS", + "Zellweger leukodystrophy" + ] + }, + { + "gard_id": "GARD:0007918", + "name": "Zollinger-Ellison syndrome", + "synonyms": [ + "ZES", + "Gastrinoma", + "Pancreatic ulcerogenic tumor syndrome", + "Z E syndrome" + ] + }, + { + "gard_id": "GARD:0007919", + "name": "Zuska's disease", + "synonyms": [ + "Lactation and squamous metaplasia of lactiferous ducts", + "Lactiferous fistula", + "Zuska disease" + ] + }, + { + "gard_id": "GARD:0007922", + "name": "Muscular dystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0008155", + "name": "4-hydroxyphenylacetic aciduria", + "synonyms": null + }, + { + "gard_id": "GARD:0008157", + "name": "Anthrax", + "synonyms": [ + "Ragpicker's disease", + "Wool sorter's disease", + "Black Baine", + "Malignant edema", + "Malignant pustule", + "Siberian Plague" + ] + }, + { + "gard_id": "GARD:0008158", + "name": "Cutaneous anthrax", + "synonyms": [ + "Skin anthrax", + "Anthrax, skin type" + ] + }, + { + "gard_id": "GARD:0008160", + "name": "Hutchinson incisors", + "synonyms": [ + "Abnormal tooth shape", + "Conical teeth", + "Mulberry teeth", + "Peg teeth" + ] + }, + { + "gard_id": "GARD:0008162", + "name": "Myxozoa", + "synonyms": [ + "Fish myxosporean parasites", + "Myxosporea", + "Henneguya salminicola" + ] + }, + { + "gard_id": "GARD:0008165", + "name": "Megalocytic interstitial nephritis", + "synonyms": [ + "Interstitial megalocytic nephritis", + "Transplant megalocytic interstitial nephritis (type)" + ] + }, + { + "gard_id": "GARD:0008167", + "name": "Palmoplantar keratoderma", + "synonyms": [ + "Keratoderma, Palmoplantar" + ] + }, + { + "gard_id": "GARD:0008169", + "name": "Sclerosing mesenteritis", + "synonyms": [ + "Retractile mesenteritis", + "Liposclerotic mesenteritis", + "Mesenteric lipogranuloma", + "Mesenteric fibromatosis", + "Mesenteric panniculitis", + "Mesenteric lipodystrophy", + "Peritoneal retractile mesenteritis", + "Idiopathic sclerosing mesenteritis" + ] + }, + { + "gard_id": "GARD:0008170", + "name": "Severe infantile axonal neuropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0008171", + "name": "Candida glabrata", + "synonyms": [ + "Torulopsis glabrata (formerly)" + ] + }, + { + "gard_id": "GARD:0008172", + "name": "Transient global amnesia", + "synonyms": null + }, + { + "gard_id": "GARD:0008173", + "name": "Achondroplasia", + "synonyms": [ + "ACH", + "Achondroplastic dwarfism" + ] + }, + { + "gard_id": "GARD:0008174", + "name": "Cryptomicrotia brachydactyly syndrome", + "synonyms": [ + "Tonoki ohura niikawa syndrome", + "Cryptomicrotia brachydactyly syndrome excess fingertip arch", + "Bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch" + ] + }, + { + "gard_id": "GARD:0008176", + "name": "Achard syndrome", + "synonyms": [ + "Arachnodactyly, receding lower jaw and joint laxity of hands/feet" + ] + }, + { + "gard_id": "GARD:0008177", + "name": "Basedow's coma", + "synonyms": [ + "Coma basedovicum", + "Karl Adolph von Basedow" + ] + }, + { + "gard_id": "GARD:0008178", + "name": "Total Hypotrichosis, Mari type", + "synonyms": [ + "Alopecia Universalis Congenita, Mari type", + "Mari type Alopecia universalis congenita" + ] + }, + { + "gard_id": "GARD:0008180", + "name": "Punctate porokeratosis", + "synonyms": [ + "PPPP", + "Porokeratosis punctata palmaris et plantaris" + ] + }, + { + "gard_id": "GARD:0008182", + "name": "Proximal symphalangism", + "synonyms": [ + "Strasburger-Hawkins-Eldridge syndrome", + "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome", + "Vessel’s syndrome", + "Hereditary absence of proximal interphalangeal joints", + "Proximal symphalangism", + "Cushing's symphalangism", + "Symphalangism, proximal, 1A (subtype)", + "Symphalangism, proximal, 1B (subtype)" + ] + }, + { + "gard_id": "GARD:0008184", + "name": "Ossicular Malformations, familial", + "synonyms": [ + "Familial ossicular malformations", + "Familial middle ear ossicular anomalies" + ] + }, + { + "gard_id": "GARD:0008189", + "name": "Conotruncal heart malformations", + "synonyms": [ + "CTHM", + "Conotruncal cardiac defects" + ] + }, + { + "gard_id": "GARD:0008192", + "name": "Uveal diseases", + "synonyms": null + }, + { + "gard_id": "GARD:0008194", + "name": "Cysticercosis", + "synonyms": [ + "Taeniasis", + "Neurocysticercosis", + "Submacular cysticercosis" + ] + }, + { + "gard_id": "GARD:0008195", + "name": "Strongyloidiasis", + "synonyms": [ + "Threadworm Infection" + ] + }, + { + "gard_id": "GARD:0008196", + "name": "Spirurida Infections", + "synonyms": null + }, + { + "gard_id": "GARD:0008197", + "name": "Smith-Magenis syndrome", + "synonyms": [ + "SMS", + "Chromosome 17p11.2 deletion syndrome" + ] + }, + { + "gard_id": "GARD:0008198", + "name": "Omenn syndrome", + "synonyms": [ + "Reticuloendotheliosis familial with eosinophilia", + "Severe combined immunodeficiency with hypereosinophilia" + ] + }, + { + "gard_id": "GARD:0008200", + "name": "Secernentea Infections", + "synonyms": null + }, + { + "gard_id": "GARD:0008203", + "name": "Rhabditida Infections", + "synonyms": null + }, + { + "gard_id": "GARD:0008204", + "name": "Henoch-Schonlein purpura", + "synonyms": [ + "Purpura, Schonlein-Henoch", + "Anaphylactoid purpura", + "Vascular purpura", + "Henoch Schonlein purpura", + "Immunoglobulin A vasculitis", + "Immunoglobulin-A vasculitis" + ] + }, + { + "gard_id": "GARD:0008206", + "name": "Ambras syndrome", + "synonyms": [ + "Hypertrichosis universalis congenita Ambras type", + "HTC 1" + ] + }, + { + "gard_id": "GARD:0008207", + "name": "Pineocytoma", + "synonyms": [ + "Pinealocytoma", + "Pinealoma" + ] + }, + { + "gard_id": "GARD:0008208", + "name": "HTLV-1 associated myelopathy/tropical spastic paraparesis", + "synonyms": [ + "HAM/TSP", + "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis", + "Tropical spastic paraparesis (formerly)" + ] + }, + { + "gard_id": "GARD:0008211", + "name": "Neurofibrosarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0008214", + "name": "Lafora disease", + "synonyms": [ + "Lafora body disorder", + "Epilepsy progressive myoclonic 2", + "EPM2", + "Myoclonic epilepsy of Lafora", + "MELF" + ] + }, + { + "gard_id": "GARD:0008215", + "name": "Mondini dysplasia", + "synonyms": [ + "Familial nonsyndromal Mondini dysplasia (subtype)" + ] + }, + { + "gard_id": "GARD:0008216", + "name": "Mansonelliasis", + "synonyms": [ + "Mansonellosis", + "Mansonella perstans infections" + ] + }, + { + "gard_id": "GARD:0008219", + "name": "Lymphoma, large-cell, immunoblastic", + "synonyms": [ + "Large cell immunoblastic lymphoma" + ] + }, + { + "gard_id": "GARD:0008221", + "name": "Lymphoma AIDS related", + "synonyms": [ + "AIDS related lymphoma" + ] + }, + { + "gard_id": "GARD:0008223", + "name": "B cell prolymphocytic leukemia", + "synonyms": [ + "Leukemia, B cell prolymphocytic" + ] + }, + { + "gard_id": "GARD:0008224", + "name": "Leukemia, T-cell, chronic", + "synonyms": [ + "Chronic T-cell leukemia", + "T-cell leukemia" + ] + }, + { + "gard_id": "GARD:0008225", + "name": "Chronic myelomonocytic leukemia", + "synonyms": [ + "Leukemia, myelomonocytic, chronic" + ] + }, + { + "gard_id": "GARD:0008226", + "name": "Myeloid leukemia", + "synonyms": [ + "Myeloid leukemia" + ] + }, + { + "gard_id": "GARD:0008230", + "name": "Homocysteinemia", + "synonyms": null + }, + { + "gard_id": "GARD:0008231", + "name": "Non-Langerhans-Cell Histiocytosis", + "synonyms": [ + "Histiocytosis, Non-Langerhans-Cell" + ] + }, + { + "gard_id": "GARD:0008232", + "name": "Hemangioblastoma", + "synonyms": null + }, + { + "gard_id": "GARD:0008233", + "name": "Gaucher disease", + "synonyms": [ + "Acute cerebral Gaucher disease", + "Cerebroside lipidosis syndrome", + "Gaucher splenomegaly", + "Sphingolipidosis 1", + "Glucocerebrosidosis", + "Glucosylceramidase deficiency", + "Glucosyl cerebroside lipidosis", + "Kerasin lipoidosis", + "Kerasin thesaurismosis" + ] + }, + { + "gard_id": "GARD:0008234", + "name": "Felty's syndrome", + "synonyms": [ + "Felty syndrome", + "Rheumatoid arthritis, splenomegaly and neutropenia", + "Familial Felty's syndrome" + ] + }, + { + "gard_id": "GARD:0008235", + "name": "Esotropia", + "synonyms": null + }, + { + "gard_id": "GARD:0008238", + "name": "Choroid plexus carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0008241", + "name": "Sea-Blue histiocytosis", + "synonyms": [ + "Histiocytosis, sea-blue", + "Sea-Blue histiocyte disease", + "Inherited Lipemic Splenomegaly" + ] + }, + { + "gard_id": "GARD:0008242", + "name": "5-Nucleotidase syndrome", + "synonyms": [ + "5'NT syndrome" + ] + }, + { + "gard_id": "GARD:0008244", + "name": "Brain stem cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0008249", + "name": "Sideroblastic anemia pyridoxine-refractory autosomal recessive", + "synonyms": [ + "Pyridoxine refractory sideroblastic anemia", + "Refractory anemia with ringed sideroblasts", + "RARS", + "Acquired idiopathic sideroblastic anemia", + "AISA", + "Primary acquired sideroblastic anemia" + ] + }, + { + "gard_id": "GARD:0008250", + "name": "AIDS Dementia Complex", + "synonyms": [ + "ADC", + "AIDS related cognitive impairment" + ] + }, + { + "gard_id": "GARD:0008252", + "name": "Hyperadrenalism", + "synonyms": [ + "Adrenal gland hyperfunction" + ] + }, + { + "gard_id": "GARD:0008254", + "name": "Omsk hemorrhagic fever", + "synonyms": [ + "OHF" + ] + }, + { + "gard_id": "GARD:0008257", + "name": "Kyasanur Forest disease", + "synonyms": [ + "KFD", + "KFD virus" + ] + }, + { + "gard_id": "GARD:0008258", + "name": "Mediastinal endodermal sinus tumors", + "synonyms": [ + "EST" + ] + }, + { + "gard_id": "GARD:0008259", + "name": "Plummer Vinson syndrome", + "synonyms": [ + "Kelly's syndrome", + "Paterson-Kelly syndrome", + "Paterson-Brown-Kelly syndrome", + "Dysphagia sideropenica", + "Paterson’s syndrome", + "Kelly-Paterson syndrome", + "Plummer-Vinson syndrome", + "Sideropenic dysphagia" + ] + }, + { + "gard_id": "GARD:0008270", + "name": "Kocher-Debre-Semelaigne syndrome", + "synonyms": [ + "Kocher Debre Semelaigne disease", + "Association of muscular pseudohypertrophy and hypothyroidism in children" + ] + }, + { + "gard_id": "GARD:0008273", + "name": "Mutagen sensitivity", + "synonyms": null + }, + { + "gard_id": "GARD:0008275", + "name": "Keratolytic winter erythema", + "synonyms": [ + "KWE", + "Oudtshoorn skin", + "Erythrokeratolysis hiemalis ichthyosis" + ] + }, + { + "gard_id": "GARD:0008276", + "name": "De Sanctis-Cacchione syndrome", + "synonyms": [ + "Xerodermic idiocy" + ] + }, + { + "gard_id": "GARD:0008278", + "name": "Cataract, congenital, with microcornea or slight microphthalmia", + "synonyms": [ + "Cataract congenital X-linked", + "Cataract 40, X-linked" + ] + }, + { + "gard_id": "GARD:0008280", + "name": "Dupuytren subungual exostosis", + "synonyms": [ + "Subungual exostoses" + ] + }, + { + "gard_id": "GARD:0008282", + "name": "Amyloidosis familial visceral", + "synonyms": [ + "Ostertag type amyloidosis", + "German type amyloidosis", + "Amyloidosis familial renal", + "Amyloidosis systemic nonneuropathic", + "Amyloidosis VIII", + "Amyloidosis 8", + "Amyloidosis, Ostertag type", + "Familial amyloid nephropathy", + "Familial renal amyloidosis", + "Hereditary amyloid nephropathy", + "Hereditary amyloidosis with primary renal involement", + "Hereditary renal amyloidosis", + "Hereditary amyloidosis with primary renal involvement" + ] + }, + { + "gard_id": "GARD:0008283", + "name": "Diamond-Blackfan anemia 2", + "synonyms": [ + "DBA2", + "Anemia Diamond-Blackfan 2" + ] + }, + { + "gard_id": "GARD:0008291", + "name": "Egg shaped pupils", + "synonyms": [ + "Ovoid pupils" + ] + }, + { + "gard_id": "GARD:0008295", + "name": "Mitochondrial complex III deficiency", + "synonyms": [ + "Complex 3 mitochondrial respiratory chain deficiency" + ] + }, + { + "gard_id": "GARD:0008309", + "name": "Absence of tibia with polydactyly", + "synonyms": [ + "Polydactyly with absent tibia" + ] + }, + { + "gard_id": "GARD:0008310", + "name": "Myotonic dystrophy type 1", + "synonyms": [ + "Dystrophia myotonica type 1", + "DM1", + "Steinert disease", + "Steinert myotonic dystrophy", + "Steinert's disease" + ] + }, + { + "gard_id": "GARD:0008311", + "name": "Cardiomyopathy, fatal fetal, due to myocardial calcification", + "synonyms": [ + "Myocardial calcifications resulting in intrauterine fetal death" + ] + }, + { + "gard_id": "GARD:0008312", + "name": "Pseudo-Von Willebrand disease", + "synonyms": [ + "Von Willebrand disease, platelet type" + ] + }, + { + "gard_id": "GARD:0008313", + "name": "Angiomyomatous Hamartoma", + "synonyms": null + }, + { + "gard_id": "GARD:0008317", + "name": "Dendritic cell tumor", + "synonyms": [ + "Dendritic cell neoplasm" + ] + }, + { + "gard_id": "GARD:0008320", + "name": "Mosaic monosomy 22", + "synonyms": [ + "Mosaic monosomy chromosome 22", + "Monosomy 22 mosaicism" + ] + }, + { + "gard_id": "GARD:0008322", + "name": "Diabetic mastopathy", + "synonyms": [ + "Diabetic fibrous breast disease", + "Diabetic fibrous mastopathy", + "Lymphocytic mastitis", + "Lymphocytic mastopathy", + "Sclerosing lymphocytic lobulitis" + ] + }, + { + "gard_id": "GARD:0008324", + "name": "Swyer-James syndrome", + "synonyms": [ + "Swyer-James-MacLeod syndrome" + ] + }, + { + "gard_id": "GARD:0008325", + "name": "Trisomy 11 mosaicism", + "synonyms": null + }, + { + "gard_id": "GARD:0008326", + "name": "Yusho Disease", + "synonyms": [ + "Dermal and ocular lesions, irregular menstrual cycles and altered immune responses" + ] + }, + { + "gard_id": "GARD:0008329", + "name": "Atelosteogenesis type 2", + "synonyms": [ + "AOII", + "AO2", + "Neonatal osseous dysplasia 1", + "De la Chapelle dysplasia", + "Atelosteogenesis II" + ] + }, + { + "gard_id": "GARD:0008331", + "name": "Mohr-Tranebjaerg syndrome", + "synonyms": [ + "MTS", + "Deafness dystonia syndrome", + "DDS", + "Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency", + "Deafness-dystonia-optic atrophy syndrome", + "DDP", + "Deafness-dystonia-optic neuronopathy (DDON) syndrome", + "DDON syndrome", + "Deafness - dystonia - optic neuronopathy syndrome", + "Deafness-dystonia-optic neuronopathy syndrome" + ] + }, + { + "gard_id": "GARD:0008333", + "name": "Human HOXA1 Syndromes", + "synonyms": [ + "Navajo brainstem syndrome", + "Athabaskan Brainstem Dysgenesis Syndrome", + "ABDS", + "Bosley Salih Alorainy syndrome", + "BSAS", + "Athabaskan Brainstem Dysgenesis" + ] + }, + { + "gard_id": "GARD:0008334", + "name": "Amish Nemaline Myopathy", + "synonyms": [ + "Amish Nemaline Myopathy", + "ANM", + "NEM5", + "Nemaline Myopathy, Amish Type", + "Nemaline myopathy, caused by mutation in the troponin t1 gene", + "Nemaline myopathy 5, Amish type" + ] + }, + { + "gard_id": "GARD:0008337", + "name": "Fibrosing mediastinitis", + "synonyms": [ + "Mediastinal fibrosis", + "Idiopathic mediastinal fibrosis", + "Sclerosing mediastinitis", + "IgG4-related mediastinitis" + ] + }, + { + "gard_id": "GARD:0008338", + "name": "PHACE syndrome", + "synonyms": [ + "PHACE association", + "PHACES association", + "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities", + "Pascual-Castroviejo type II syndrome", + "P-CIIS", + "Pascual-Castroviejo syndrome type 2" + ] + }, + { + "gard_id": "GARD:0008341", + "name": "Marinesco-Sjogren syndrome", + "synonyms": [ + "MSS", + "Marinesco-Garland Syndrome", + "Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism", + "Marinesco-Sjogren Syndrome-Myopathy", + "Marinesco-Sjogren-Garland Syndrome" + ] + }, + { + "gard_id": "GARD:0008343", + "name": "Spondylometaphyseal dysplasia X-linked", + "synonyms": [ + "Spondylometaphyseal dysplasia Richmond type" + ] + }, + { + "gard_id": "GARD:0008344", + "name": "ABri amyloidosis", + "synonyms": [ + "FBD", + "Cerebral amyloid angiopathy, British type", + "Presenile dementia with spastic ataxia", + "Familial British dementia", + "Familial dementia, British type" + ] + }, + { + "gard_id": "GARD:0008345", + "name": "Quebec platelet disorder", + "synonyms": [ + "QPD", + "Factor V Quebec" + ] + }, + { + "gard_id": "GARD:0008348", + "name": "Pulmonary edema of mountaineers", + "synonyms": [ + "High altitude pulmonary hypertension", + "HAPH" + ] + }, + { + "gard_id": "GARD:0008349", + "name": "Amelogenesis imperfecta hypomaturation type", + "synonyms": [ + "AIH" + ] + }, + { + "gard_id": "GARD:0008355", + "name": "Kaolin pneumoconiosis", + "synonyms": [ + "Simple kaolinosis" + ] + }, + { + "gard_id": "GARD:0008356", + "name": "Coal worker's pneumoconiosis", + "synonyms": [ + "Pneumoconiosis", + "Black lung disease" + ] + }, + { + "gard_id": "GARD:0008357", + "name": "Aluminosis", + "synonyms": [ + "Aluminosis of lung", + "Pulmonary aluminosis", + "Shavers disease", + "Shavers' disease", + "Aluminum pneumoconiosis", + "Aluminosis pulmonum" + ] + }, + { + "gard_id": "GARD:0008359", + "name": "Graphite Pneumoconiosis", + "synonyms": [ + "Carbon Pneumoconiosis" + ] + }, + { + "gard_id": "GARD:0008360", + "name": "Aldred syndrome", + "synonyms": [ + "X-linked mental handicap-retinitis pigmentosa syndrome", + "Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion", + "Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)", + "X-linked intellectual disability-retinitis pigmentosa syndrome" + ] + }, + { + "gard_id": "GARD:0008367", + "name": "Kenny-Caffey syndrome type 1", + "synonyms": [ + "KCS1", + "Kenny-Caffey syndrome, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0008368", + "name": "Granulomas, congenital cerebral", + "synonyms": [ + "Congenital cerebral granulomas" + ] + }, + { + "gard_id": "GARD:0008370", + "name": "Leigh syndrome, French Canadian type", + "synonyms": [ + "Cox deficiency, French Canadian type", + "Cox deficiency, Saguenay Lac saint Jean type", + "Leigh syndrome, Saguenay Lac saint Jean type", + "LSFC", + "Cytochrome c oxidase deficiency, French Canadian type" + ] + }, + { + "gard_id": "GARD:0008371", + "name": "Baritosis", + "synonyms": [ + "Inhalation of barytes", + "Deposition of barium in the lungs" + ] + }, + { + "gard_id": "GARD:0008372", + "name": "Silicosiderosis", + "synonyms": [ + "Iron miners lung", + "Hematite pneumoconiosis" + ] + }, + { + "gard_id": "GARD:0008374", + "name": "Labrador lung", + "synonyms": [ + "Mixed dust pneumoconiosis" + ] + }, + { + "gard_id": "GARD:0008378", + "name": "Autosomal recessive polycystic kidney disease", + "synonyms": [ + "ARPKD", + "Polycystic kidney disease, infantile type" + ] + }, + { + "gard_id": "GARD:0008380", + "name": "Arterial calcification of infancy", + "synonyms": [ + "Occlusive infantile arteriopathy", + "Idiopathic infantile arterial calcification", + "IIAC", + "Generalized arterial calcification in infancy" + ] + }, + { + "gard_id": "GARD:0008382", + "name": "2-Methylacetoacetyl CoA thiolase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0008383", + "name": "Biliary hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0008386", + "name": "Global disaccharide intolerance", + "synonyms": null + }, + { + "gard_id": "GARD:0008387", + "name": "HMG CoA lyase deficiency", + "synonyms": [ + "3-hydroxy-3-methylglutaryl-CoA lyase deficiency", + "Defect in leucine metabolism", + "HMG-CoA lyase deficiency", + "3-hydroxy-3-methylglutaric aciduria", + "Hydroxymethylglutaric aciduria" + ] + }, + { + "gard_id": "GARD:0008391", + "name": "Ornithine transcarbamylase deficiency", + "synonyms": [ + "Ornithine carbamoyltransferase deficiency", + "OTC deficiency", + "OTCD" + ] + }, + { + "gard_id": "GARD:0008394", + "name": "Hypolipoproteinemia", + "synonyms": null + }, + { + "gard_id": "GARD:0008397", + "name": "Methionine adenosyltransferase deficiency", + "synonyms": [ + "MAT deficiency" + ] + }, + { + "gard_id": "GARD:0008400", + "name": "Galactorrhoea-Hyperprolactinaemia", + "synonyms": [ + "Galactorrhea-Hyperprolactinemia", + "Hyperprolactinaemia" + ] + }, + { + "gard_id": "GARD:0008401", + "name": "Galactocele", + "synonyms": [ + "Lacteal cyst", + "Lactocele", + "Galactocoele" + ] + }, + { + "gard_id": "GARD:0008402", + "name": "Pseudopolycythaemia", + "synonyms": [ + "Pseudopolycythemia", + "Gaisboeck's syndrome", + "Stress polycythemia" + ] + }, + { + "gard_id": "GARD:0008403", + "name": "Supranuclear ocular palsy", + "synonyms": [ + "Conjugate gaze palsy", + "Gaze palsy" + ] + }, + { + "gard_id": "GARD:0008406", + "name": "Sertoli cell-only syndrome", + "synonyms": [ + "Germinal cell aplasia", + "Del Castillo syndrome" + ] + }, + { + "gard_id": "GARD:0008407", + "name": "Feingold syndrome", + "synonyms": [ + "Oculodigitoesophagoduodenal syndrome", + "Brunner-Winter syndrome", + "ODED syndrome", + "Microcephaly-oculo-digito-esophageal-duodenal syndrome", + "Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum", + "MMT syndrome" + ] + }, + { + "gard_id": "GARD:0008410", + "name": "Miller syndrome", + "synonyms": [ + "Genee-Wiedemann acrofacial dysostosis", + "GWAFD", + "Genee-Wiedemann syndrome", + "Wildervanck-Smith syndrome", + "Postaxial acrofacial dysostosis (POADS) syndrome", + "POADS syndrome" + ] + }, + { + "gard_id": "GARD:0008413", + "name": "Camera Marugo Cohen syndrome", + "synonyms": [ + "Obesity, mental retardation, body asymmetry, and muscle weakness" + ] + }, + { + "gard_id": "GARD:0008414", + "name": "Van der Woude syndrome", + "synonyms": [ + "VDWS", + "VWS", + "Lip pit syndrome", + "LPS", + "Cleft lip and/or palate with mucous cysts of lower lip" + ] + }, + { + "gard_id": "GARD:0008415", + "name": "Van Bogaert-Hozay syndrome", + "synonyms": [ + "Hozay’s syndrome", + "Acro-osteolysis-facial dysplasia syndrome" + ] + }, + { + "gard_id": "GARD:0008416", + "name": "Focal facial dermal dysplasia", + "synonyms": [ + "Brauer syndrome", + "Bitemporal aplasia cutis congenita", + "Hereditary symmetrical aplastic nevi of temples", + "FFDD, type 1" + ] + }, + { + "gard_id": "GARD:0008417", + "name": "Renal cell carcinoma 4", + "synonyms": [ + "RCC4" + ] + }, + { + "gard_id": "GARD:0008419", + "name": "Optic nerve hypoplasia, familial bilateral", + "synonyms": [ + "Familial bilateral optic nerve hypoplasia" + ] + }, + { + "gard_id": "GARD:0008420", + "name": "Kifafa seizure disorder", + "synonyms": [ + "Parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes", + "Complex familial seizure disorder", + "Vitsala" + ] + }, + { + "gard_id": "GARD:0008421", + "name": "Pallister-Killian mosaic syndrome", + "synonyms": [ + "Chromosome 12, Isochromosome 12p syndrome", + "Killian syndrome", + "Killian Teschler-Nicola syndrome", + "Pallister mosaic syndrome", + "Teschler-Nicola Killian syndrome", + "Tetrasomy 12p, mosaic", + "Pallister Killian syndrome", + "PKS" + ] + }, + { + "gard_id": "GARD:0008422", + "name": "Peters plus syndrome", + "synonyms": [ + "Peters anomaly with short limb dwarfism", + "Krause-Kivlin syndrome" + ] + }, + { + "gard_id": "GARD:0008423", + "name": "Richards-Rundle syndrome", + "synonyms": [ + "RRS", + "Ataxia-deafness-retardation syndrome with ketoaciduria", + "Familial ataxia-hypogonadism syndrome", + "Ketoaciduria-mental deficiency syndrome", + "Ketoaciduria - intellectual disability - ataxia - deafness", + "Ketoaciduria-intellectual disability-ataxia-deafness syndrome" + ] + }, + { + "gard_id": "GARD:0008424", + "name": "Iminoglycinuria", + "synonyms": null + }, + { + "gard_id": "GARD:0008426", + "name": "Thyroid dysgenesis", + "synonyms": [ + "Thyroid, ectopic", + "Thyroid hypoplasia", + "Thyroid agenesis" + ] + }, + { + "gard_id": "GARD:0008427", + "name": "Bare lymphocyte syndrome", + "synonyms": [ + "BLS type 1", + "HLA class 1 deficiency" + ] + }, + { + "gard_id": "GARD:0008428", + "name": "Crane-Heise syndrome", + "synonyms": [ + "Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" + ] + }, + { + "gard_id": "GARD:0008429", + "name": "Genu valgum, st Helena familial", + "synonyms": [ + "Genu valgum, hereditary pubertal", + "Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists", + "St. Helena familial genu valgum", + "Hereditary pubertal genu valgum" + ] + }, + { + "gard_id": "GARD:0008431", + "name": "Axial osteomalacia", + "synonyms": [ + "Atypical osteomalacia involving the axial skeleton" + ] + }, + { + "gard_id": "GARD:0008432", + "name": "STAC3 Disorder", + "synonyms": [ + "Congenital myopathy cleft palate and malignant hyperthermia", + "Congenital myopathy - cleft palate - malignant hyperthermia", + "Congenital myopathy-cleft palate-malignant hyperthermia syndrome", + "Congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia", + "Bailey-Bloch congenital myopathy", + "Native American myopathy" + ] + }, + { + "gard_id": "GARD:0008433", + "name": "King Denborough syndrome", + "synonyms": [ + "Anesthetic-induced malignant hyperpyrexia in children", + "King syndrome" + ] + }, + { + "gard_id": "GARD:0008435", + "name": "Persistent Mullerian duct syndrome", + "synonyms": [ + "Female genital ducts in otherwise normal male", + "Persistent mullerian duct syndrome, types 1 and 2", + "Hernia uteri inguinale", + "Persistent oviduct syndrome", + "PMDS" + ] + }, + { + "gard_id": "GARD:0008436", + "name": "Frontotemporal dementia", + "synonyms": [ + "Dementia, frontotemporal, with parkinsonism", + "Frontotemporal dementia with parkinsonism", + "Frontotemporal lobe dementia (FLDEM)", + "MSTD", + "Multiple system tauopathy with presenile dementia", + "FTD" + ] + }, + { + "gard_id": "GARD:0008437", + "name": "Glassy cell carcinoma of the cervix", + "synonyms": [ + "Glassy cell adenocarcinoma of the uterine cervix", + "GCC of the cervix" + ] + }, + { + "gard_id": "GARD:0008438", + "name": "Isolated anterior cervical hypertrichosis", + "synonyms": [ + "Anterior cervical hypertrichosis", + "Hairy throat", + "Hairy throat syndrome", + "Tsukahara Kajii syndrome" + ] + }, + { + "gard_id": "GARD:0008445", + "name": "Giant papillary conjunctivitis", + "synonyms": [ + "GPC" + ] + }, + { + "gard_id": "GARD:0008446", + "name": "Conjunctivitis with Pseudomembrane", + "synonyms": null + }, + { + "gard_id": "GARD:0008449", + "name": "Keutel syndrome", + "synonyms": [ + "Pulmonic stenosis brachytelephalangism and calcification of cartilages" + ] + }, + { + "gard_id": "GARD:0008451", + "name": "Sener syndrome", + "synonyms": [ + "Frontonasal dysplasia and dilated virchow-robin spaces", + "Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia" + ] + }, + { + "gard_id": "GARD:0008452", + "name": "Tièche-Jadassohn nevus", + "synonyms": [ + "Jadassohn-Tièche nevus", + "Jadassohn-Tièche syndrome", + "Benign mesenchymal melanoma", + "Blue neuronevus", + "Blue nevus" + ] + }, + { + "gard_id": "GARD:0008457", + "name": "Tumor necrosis factor receptor-associated periodic syndrome", + "synonyms": [ + "FPF", + "Familial Hibernian fever", + "FHF", + "TRAPS", + "Hibernian fever, familial", + "TNF receptor-associated periodic syndrome", + "Periodic fever, familial, autosomal dominant", + "TNF receptor-associated periodic fever syndrome" + ] + }, + { + "gard_id": "GARD:0008460", + "name": "Anton's syndrome", + "synonyms": [ + "Anton-Babinski syndrome", + "Reversible cortical blindness", + "Transient Anton's syndrome" + ] + }, + { + "gard_id": "GARD:0008461", + "name": "Hairy palms and soles", + "synonyms": [ + "Circumscribed hairy dysembryoplasia of palms", + "Thickened hair-bearing skin on the palms of both hands", + "Hairy cutaneous malformations of palms and soles" + ] + }, + { + "gard_id": "GARD:0008465", + "name": "Hairy nose tip", + "synonyms": [ + "HNT" + ] + }, + { + "gard_id": "GARD:0008466", + "name": "Autoimmune polyglandular syndrome type 1", + "synonyms": [ + "APS 1", + "Autoimmune polyendocrine syndrome type 1", + "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", + "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", + "Autoimmune polyendocrinopathy syndrome type 1", + "Polyglandular autoimmune syndrome type 1", + "PGA 1", + "PGA-I", + "Whitaker syndrome", + "Type I Polyglandular Autoimmune Syndrome", + "Autoimmune polyglandular syndrome type I" + ] + }, + { + "gard_id": "GARD:0008468", + "name": "Melanoma astrocytoma syndrome", + "synonyms": [ + "Melanoma and neural system tumor syndrome" + ] + }, + { + "gard_id": "GARD:0008470", + "name": "Microcephaly, holoprosencephaly, and intrauterine growth retardation", + "synonyms": [ + "Lambotte syndrome" + ] + }, + { + "gard_id": "GARD:0008471", + "name": "Ocular albinism type 1", + "synonyms": [ + "Nettleship-Falls type ocular albinism", + "OA1", + "X-linked recessive ocular albinism", + "XLOA", + "X-linked ocular albinism" + ] + }, + { + "gard_id": "GARD:0008472", + "name": "Muckle-Wells syndrome", + "synonyms": [ + "Urticaria, deafness and amyloidosis", + "Urticaria-deafness-amyloidosis syndrome", + "UDA syndrome", + "Muckle Wells syndrome" + ] + }, + { + "gard_id": "GARD:0008476", + "name": "Leber hereditary optic neuropathy with dystonia", + "synonyms": [ + "LHON and dystonia", + "Leber optic atrophy and dystonia", + "LDYT", + "Marsden syndrome", + "Dystonia familial, with visual failure and striatal lucencies", + "Leber's hereditary optic neuropathy with dystonia" + ] + }, + { + "gard_id": "GARD:0008477", + "name": "Renal oncocytoma", + "synonyms": [ + "Oncocytoma renal", + "Oncocytoma kidney" + ] + }, + { + "gard_id": "GARD:0008479", + "name": "Familial multiple trichodiscomas", + "synonyms": [ + "Small benign fibrovascular tumor of the dermal part of the hair disk", + "Hereditary multiple trichodiscomas" + ] + }, + { + "gard_id": "GARD:0008480", + "name": "Cutis laxa, autosomal recessive type 1", + "synonyms": [ + "Cutis laxa, type 1", + "Cutis laxa, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0008482", + "name": "Thumb deformity", + "synonyms": [ + "Thumb absent or hypoplastic", + "Thumb hypoplastic" + ] + }, + { + "gard_id": "GARD:0008484", + "name": "Trigger thumb", + "synonyms": [ + "Recurrent trigger thumb (type)", + "Bilateral trigger thumb (type)", + "Congenital trigger thumb (type)" + ] + }, + { + "gard_id": "GARD:0008485", + "name": "Acropectoral syndrome", + "synonyms": [ + "ACRPS", + "Syndactyly, preaxial polydactyly and sternal deformity", + "ACRP syndrome", + "Acro-pectoral syndrome" + ] + }, + { + "gard_id": "GARD:0008486", + "name": "Musculocontractural Ehlers-Danlos syndrome", + "synonyms": [ + "Autosomal recessive adducted thumb-club foot syndrome", + "Adducted thumb clubfoot syndrome", + "Musculocontractural EDS", + "mcEDS", + "Ehlers-Danlos syndrome, musculocontractural type" + ] + }, + { + "gard_id": "GARD:0008487", + "name": "Infantile digital fibromatosis", + "synonyms": [ + "IDF", + "Asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes" + ] + }, + { + "gard_id": "GARD:0008488", + "name": "Nonmedullary thyroid carcinoma, with or without cell oxyphilia", + "synonyms": [ + "TCO", + "TCO 1" + ] + }, + { + "gard_id": "GARD:0008489", + "name": "MASS phenotype", + "synonyms": [ + "Overlap connective tissue disease", + "OCTD", + "MASS syndrome" + ] + }, + { + "gard_id": "GARD:0008490", + "name": "Ectopia pupillae", + "synonyms": [ + "Congenital eye malformation in which the pupils are displaced from their normal central position", + "Familial ectopic pupil" + ] + }, + { + "gard_id": "GARD:0008491", + "name": "Radiation induced meningioma", + "synonyms": [ + "MNRI" + ] + }, + { + "gard_id": "GARD:0008494", + "name": "Ribbing disease", + "synonyms": [ + "Multiple diaphyseal sclerosis", + "Diaphyseal sclerosis, multiple", + "Hereditary multiple diaphyseal sclerosis" + ] + }, + { + "gard_id": "GARD:0008495", + "name": "Bantu siderosis", + "synonyms": [ + "African iron overload", + "Hereditary iron overload and African Americans", + "Iron overload in Africa" + ] + }, + { + "gard_id": "GARD:0008497", + "name": "Usher syndrome, type 2C", + "synonyms": [ + "USH2C" + ] + }, + { + "gard_id": "GARD:0008498", + "name": "VACTERL association with hydrocephaly, X-linked", + "synonyms": [ + "X-linked VACTERL-H syndrome" + ] + }, + { + "gard_id": "GARD:0008499", + "name": "Thyroid hormone plasma membrane transport defect", + "synonyms": [ + "Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport", + "Thyroid hormone resistance due to T4 plasma membrane transport defect" + ] + }, + { + "gard_id": "GARD:0008500", + "name": "Cholesterol pneumonia", + "synonyms": [ + "Familiaere Cholesterin-Pneumonie" + ] + }, + { + "gard_id": "GARD:0008501", + "name": "White sponge nevus of cannon", + "synonyms": [ + "WSN", + "Leukokeratosis, hereditary mucosal" + ] + }, + { + "gard_id": "GARD:0008502", + "name": "Coloboma of optic nerve", + "synonyms": [ + "Optic nerve head pits, bilateral congenital", + "Congenital coloboma of the optic nerve", + "Optic nerve coloboma" + ] + }, + { + "gard_id": "GARD:0008507", + "name": "Classical-like Ehlers-Danlos syndrome", + "synonyms": [ + "EDS due to TNX deficiency", + "TNX deficiency", + "Ehlers-Danlos syndrome, classic-like type", + "EDS, classic-like type", + "Classical-like EDS", + "clEDS", + "Ehlers-Danlos syndrome due to tenascin-X deficiency", + "Classical-like EDS type 1", + "Classical-like Ehlers-Danlos syndrome type 1", + "clEDS type 1" + ] + }, + { + "gard_id": "GARD:0008508", + "name": "Ehlers-Danlos syndrome, dysfibronectinemic type", + "synonyms": [ + "FN abnormality", + "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality", + "EDS10 (formerly)", + "Ehlers-Danlos syndrome, type X (formerly)", + "Ehlers-Danlos syndrome type 10 (formerly)" + ] + }, + { + "gard_id": "GARD:0008509", + "name": "AREDYLD", + "synonyms": [ + "Acral renal ectodermal dysplasia lipoatrophic diabetes", + "Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes", + "Aredyld Syndrome" + ] + }, + { + "gard_id": "GARD:0008510", + "name": "Microcephaly with spastic quadriplegia", + "synonyms": [ + "Recessive microcephaly with spastic quadriplegia" + ] + }, + { + "gard_id": "GARD:0008513", + "name": "Retroperitoneal liposarcoma", + "synonyms": [ + "Pelvic retroperitoneal liposarcoma", + "Giant pelvic retroperitoneal liposarcoma" + ] + }, + { + "gard_id": "GARD:0008514", + "name": "Visceral steatosis", + "synonyms": [ + "Fatty metamorphosis of viscera", + "Steatosis of liver", + "White liver disease", + "Fatal neonatal hepatic steatosis" + ] + }, + { + "gard_id": "GARD:0008517", + "name": "Palmoplantar keratoderma-sclerodactyly syndrome", + "synonyms": [ + "Scleroatrophic and keratotic dermatosis of limbs", + "HRZ", + "Huriez syndrome", + "Atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles", + "Sclerotylosis" + ] + }, + { + "gard_id": "GARD:0008518", + "name": "Absence of gluteal muscle", + "synonyms": [ + "Gluteal muscle, absence of", + "Congenital absence of gluteal muscles" + ] + }, + { + "gard_id": "GARD:0008519", + "name": "Cardioauditory syndrome of Sanchez Cascos", + "synonyms": [ + "Sanchez Cascos cardioauditory syndrome" + ] + }, + { + "gard_id": "GARD:0008520", + "name": "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures", + "synonyms": [ + "Mental retardation X-linked syndromic 5", + "Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures", + "Pettigrew syndrome", + "MRXS5", + "PGS", + "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures", + "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" + ] + }, + { + "gard_id": "GARD:0008521", + "name": "Arthrogryposis multiplex congenita, distal, X-linked", + "synonyms": [ + "AMC, distal, X-linked" + ] + }, + { + "gard_id": "GARD:0008524", + "name": "Supraumbilical midabdominal raphe and facial cavernous hemangiomas", + "synonyms": [ + "Raphe, supraumbilical midline, with cavernous facial hemangiomas", + "Sternal nonunion with supraumbilical raphe", + "Hemangiomas cavernous of face supraumbilical midline raphe" + ] + }, + { + "gard_id": "GARD:0008526", + "name": "Diffuse panbronchiolitis", + "synonyms": [ + "Panbronchiolitis, diffuse", + "PBLT", + "DPB" + ] + }, + { + "gard_id": "GARD:0008527", + "name": "Hemangiomatosis, familial pulmonary capillary", + "synonyms": [ + "Familial pulmonary capillary hemangiomatosis" + ] + }, + { + "gard_id": "GARD:0008528", + "name": "HELLP syndrome", + "synonyms": [ + "Hemolysis, Elevated Liver Enzymes, Lowered Platelets" + ] + }, + { + "gard_id": "GARD:0008529", + "name": "Macrodactyly of fingers", + "synonyms": [ + "Megalodactyly of the hand", + "Megalodactylism of the hand", + "Macrodactyly of hand" + ] + }, + { + "gard_id": "GARD:0008530", + "name": "Spermatogenesis arrest", + "synonyms": [ + "Arrest of spermatogenesis" + ] + }, + { + "gard_id": "GARD:0008532", + "name": "Attenuated familial adenomatous polyposis", + "synonyms": [ + "Attenuated FAP", + "AFAP", + "Mild form of FAP", + "Attenuated familial polyposis coli", + "Attenuated adenomatous polyposis coli", + "AAPC" + ] + }, + { + "gard_id": "GARD:0008533", + "name": "Familial colorectal cancer", + "synonyms": [ + "Colorectal cancer, familial" + ] + }, + { + "gard_id": "GARD:0008534", + "name": "Eosinophilic pustular folliculitis", + "synonyms": [ + "Ofuji's disease", + "Ofuji disease", + "Eosinophilic folliculitis, pustular", + "EPF", + "Eosinophilic folliculitis" + ] + }, + { + "gard_id": "GARD:0008535", + "name": "Congenital central hypoventilation syndrome", + "synonyms": [ + "CCHS", + "Idiopathic congenital central alveolar hypoventilation", + "Congenital failure of autonomic control", + "Primary alveolar hypoventilation", + "Congenital Ondine curse", + "Ondine's curse (formerly)", + "Ondine curse (formerly)" + ] + }, + { + "gard_id": "GARD:0008538", + "name": "46, XY disorders of sexual development", + "synonyms": [ + "46, XY DSD", + "46, XY female", + "XY female" + ] + }, + { + "gard_id": "GARD:0008539", + "name": "Urocanase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0008540", + "name": "Trypanosomiasis, Human West-African", + "synonyms": [ + "Gambian sleeping sickness" + ] + }, + { + "gard_id": "GARD:0008541", + "name": "Primary progressive aphasia", + "synonyms": [ + "Aphasia, primary progressive", + "Primary progressive aphasia syndrome", + "PPA" + ] + }, + { + "gard_id": "GARD:0008542", + "name": "Chondrodysplasia punctata syndrome", + "synonyms": [ + "Toriello Higgins Miller syndrome", + "Chondrodysplasia punctata" + ] + }, + { + "gard_id": "GARD:0008546", + "name": "Accessory deep peroneal nerve", + "synonyms": [ + "Peroneal nerve, accessory deep" + ] + }, + { + "gard_id": "GARD:0008547", + "name": "Gitelman syndrome", + "synonyms": [ + "Potassium and magnesium depletion", + "Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria", + "Familial hypokalemia-hypomagnesemia", + "Gitelman's syndrome" + ] + }, + { + "gard_id": "GARD:0008548", + "name": "Charcot-Marie-Tooth disease type 2B1", + "synonyms": [ + "CMT 2B1", + "Charcot-Marie-Tooth disease, axonal, Type 2B1", + "Charcot-Marie-Tooth disease, neuronal, Type 2B1", + "Charcot Marie Tooth disease type 2B1" + ] + }, + { + "gard_id": "GARD:0008549", + "name": "Moebius syndrome", + "synonyms": [ + "Mobius syndrome", + "Congenital facial diplegia", + "Congenital facial diplegia syndrome", + "Congenital oculofacial paralysis", + "Moebius sequence", + "MBS", + "Absence or underdevelopment of the 6th and 7th cranial nerves" + ] + }, + { + "gard_id": "GARD:0008550", + "name": "Dermatopathia pigmentosa reticularis", + "synonyms": [ + "DPR" + ] + }, + { + "gard_id": "GARD:0008552", + "name": "Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification", + "synonyms": [ + "Cerebral aneurysm-cirrhosis syndrome" + ] + }, + { + "gard_id": "GARD:0008553", + "name": "Familial infantile convulsions and paroxysmal choreoathetosis", + "synonyms": [ + "ICCA", + "Convulsions, infantile, with paroxysmal choreoathetosis, familial", + "ICCA syndrome" + ] + }, + { + "gard_id": "GARD:0008554", + "name": "Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch", + "synonyms": [ + "Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch" + ] + }, + { + "gard_id": "GARD:0008555", + "name": "Dense deposit disease", + "synonyms": [ + "Glomerulonephritis membranoproliferative type 2", + "Mesangiocapillary glomerulonephritis type 2", + "MPGN 2", + "Membranoproliferative glomerulonephritis type II", + "DDD", + "Membranoproliferative glomerulonephritis type 2" + ] + }, + { + "gard_id": "GARD:0008556", + "name": "Rowley-Rosenberg syndrome", + "synonyms": [ + "Growth retardation, pulmonary hypertension, and aminoaciduria" + ] + }, + { + "gard_id": "GARD:0008557", + "name": "Mental retardation, X-linked 14", + "synonyms": [ + "MRX14", + "Mental retardation, X-linked nonspecific, type 14" + ] + }, + { + "gard_id": "GARD:0008559", + "name": "Familial Wilms tumor 2", + "synonyms": [ + "FWT2" + ] + }, + { + "gard_id": "GARD:0008561", + "name": "Kousseff Nichols syndrome", + "synonyms": [ + "Noonan like contracture myopathy hyperpyrexia" + ] + }, + { + "gard_id": "GARD:0008562", + "name": "Seckel syndrome", + "synonyms": [ + "SCKL", + "Nanocephalic dwarfism", + "Seckel-type dwarfism", + "Bird-headed dwarfism" + ] + }, + { + "gard_id": "GARD:0008563", + "name": "Primary orthostatic tremor", + "synonyms": [ + "OT", + "Shaky leg syndrome", + "Orthostatic tremor, primary", + "POT" + ] + }, + { + "gard_id": "GARD:0008564", + "name": "Fetal cystic hygroma", + "synonyms": [ + "Cystic hygroma fetal", + "FCH", + "Nuchal bleb, familial" + ] + }, + { + "gard_id": "GARD:0008565", + "name": "Radiation induced brachial plexopathy", + "synonyms": [ + "Radiation injury to the brachial plexus", + "Radiation induced brachial neuritis" + ] + }, + { + "gard_id": "GARD:0008566", + "name": "Radio-ulnar synostosis type 2", + "synonyms": [ + "Fusion just distal to the proximal radial epiphysis in association with congenital dislocation of the radial head" + ] + }, + { + "gard_id": "GARD:0008567", + "name": "Situs inversus totalis with cystic dysplasia of kidneys and pancreas", + "synonyms": [ + "Situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs ,severe intrauterine growth retardation, and oligohydramnios" + ] + }, + { + "gard_id": "GARD:0008568", + "name": "Acinic cell carcinoma", + "synonyms": [ + "Acinic cell tumor" + ] + }, + { + "gard_id": "GARD:0008569", + "name": "Warthin tumor", + "synonyms": [ + "Papillary cystadenoma lymphomatosum (formerly)" + ] + }, + { + "gard_id": "GARD:0008570", + "name": "Hashimoto encephalopathy", + "synonyms": [ + "Hashimoto's encephalopathy", + "Steroid-responsive encephalopathy associated with autoimmune thyroiditis" + ] + }, + { + "gard_id": "GARD:0008571", + "name": "Polycystic bone disease", + "synonyms": [ + "PCBD" + ] + }, + { + "gard_id": "GARD:0008573", + "name": "Limb-girdle muscular dystrophy type 2F", + "synonyms": [ + "LGMD2F", + "Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency" + ] + }, + { + "gard_id": "GARD:0008574", + "name": "Limb-girdle muscular dystrophy type 2B", + "synonyms": [ + "LGMD2B", + "Muscular dystrophy, limb-girdle, type 3", + "LGMD3" + ] + }, + { + "gard_id": "GARD:0008575", + "name": "Myasthenia gravis, limb-girdle", + "synonyms": [ + "Myasthenia, limb-girdle, autoimmune" + ] + }, + { + "gard_id": "GARD:0008576", + "name": "Balkan endemic nephropathy", + "synonyms": [ + "BEN", + "Aristolochic acid nephropathy", + "AAN", + "Danubian endemic familial nephropathy", + "DEFN", + "Nephropathia epidemica" + ] + }, + { + "gard_id": "GARD:0008577", + "name": "Panuveitis", + "synonyms": [ + "Inflammation of the whole uveal tract", + "Total uveitis", + "Diffuse uveitis" + ] + }, + { + "gard_id": "GARD:0008578", + "name": "Parkinson disease type 3", + "synonyms": [ + "PARK3", + "Autosomal dominant Parkinson disease" + ] + }, + { + "gard_id": "GARD:0008580", + "name": "Warfarin syndrome", + "synonyms": [ + "Warfarin embryopathy", + "Fetal anticoagulant syndrome", + "DiSala syndrome", + "Congenital warfarin syndrome", + "Coumarin syndrome", + "Vitamin K antagonists embryofetopathy", + "Coumarin embryopathy", + "Embryofetopathy due to oral anticoagulant therapy", + "Fetal warfarin syndrome", + "di Sala syndrome", + "Vitamin K-antagonist embryofetopathy", + "Vitamin K-antagonist embryopathy", + "Warfarin embryofetopathy" + ] + }, + { + "gard_id": "GARD:0008582", + "name": "Autoimmune Inner Ear disease", + "synonyms": [ + "AIED" + ] + }, + { + "gard_id": "GARD:0008583", + "name": "Hereditary congenital facial paresis", + "synonyms": [ + "HCFP1", + "MBS2 (formerly)", + "Moebius syndrome 2 (formerly)", + "Mobius syndrome 2 (formerly)", + "Facial paresis hereditary congenital" + ] + }, + { + "gard_id": "GARD:0008584", + "name": "Calabro syndrome", + "synonyms": [ + "Craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects" + ] + }, + { + "gard_id": "GARD:0008585", + "name": "Cantu syndrome", + "synonyms": [ + "Hypertrichotic osteochondrodysplasia", + "Craniofaciocardioskeletal syndrome" + ] + }, + { + "gard_id": "GARD:0008586", + "name": "Pfeiffer-type cardiocranial syndrome", + "synonyms": [ + "Pfeiffer cardiocranial syndrome", + "Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis", + "Pfeiffer Singer Zschiesche syndrome", + "Cardiocranial syndrome, Pfeiffer type", + "Craniosynostosis-congenital heart disease-intellectual disability syndrome", + "Pfeiffer-Singer-Zschiesche syndrome", + "Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" + ] + }, + { + "gard_id": "GARD:0008587", + "name": "Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert", + "synonyms": [ + "Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin" + ] + }, + { + "gard_id": "GARD:0008589", + "name": "Coffin syndrome 1", + "synonyms": [ + "Lean spastic dwarfism", + "Dwarfism, lean spastic type" + ] + }, + { + "gard_id": "GARD:0008591", + "name": "X-linked visceral heterotaxy 1", + "synonyms": [ + "HTX1", + "Laterality, X-linked", + "Situs inversus, complex cardiac defects, and splenic defects, X-linked", + "Heterotaxy, visceral, 1, X-linked", + "Heterotaxy, visceral, X-linked" + ] + }, + { + "gard_id": "GARD:0008592", + "name": "Spinal muscular atrophy with respiratory distress 1", + "synonyms": [ + "SMARD1", + "Spinal muscular atrophy, distal, autosomal recessive, 1", + "DSMA1", + "Neuronopathy, distal hereditary motor, type VI", + "HMN6", + "HMN VI", + "Severe infantile axonal neuropathy with respiratory failure", + "SIANRF", + "Neuronopathy, severe infantile axonal, with respiratory failure" + ] + }, + { + "gard_id": "GARD:0008593", + "name": "Morgagni-Stewart-Morel syndrome", + "synonyms": [ + "MSM syndrome", + "Hyperostosis frontalis interna, obesity, shortness and cognitive impairment" + ] + }, + { + "gard_id": "GARD:0008595", + "name": "Ataxia with vitamin E deficiency", + "synonyms": [ + "AVED", + "Ataxia with isolated vitamin E deficiency", + "Familial isolated deficiency of vitamin E", + "Friedreich-like ataxia with selective vitamin E deficiency", + "Familial isolated vitamin E deficiency", + "Friedreich-like ataxia", + "Isolated vitamin E deficiency" + ] + }, + { + "gard_id": "GARD:0008598", + "name": "Gastrointestinal Stromal Tumors", + "synonyms": [ + "Gastrointestinal Stromal Sarcoma", + "GIST" + ] + }, + { + "gard_id": "GARD:0008600", + "name": "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", + "synonyms": [ + "Conorenal syndrome", + "Mainzer Saldino syndrome", + "Saldino-Mainzer syndrome" + ] + }, + { + "gard_id": "GARD:0008602", + "name": "Acetyl-carnitine deficiency", + "synonyms": [ + "Carnitine acetyltransferase deficiency" + ] + }, + { + "gard_id": "GARD:0008604", + "name": "Acanthoma", + "synonyms": null + }, + { + "gard_id": "GARD:0008605", + "name": "Acquired angioedema", + "synonyms": [ + "Angioedema, acquired", + "Acquired C1 inhibitor deficiency" + ] + }, + { + "gard_id": "GARD:0008606", + "name": "Amish lethal microcephaly", + "synonyms": [ + "Microcephaly, Amish type", + "MCPHA" + ] + }, + { + "gard_id": "GARD:0008607", + "name": "Familial partial paralysis", + "synonyms": [ + "Partial paralysis, familial" + ] + }, + { + "gard_id": "GARD:0008609", + "name": "Idiopathic pulmonary fibrosis", + "synonyms": [ + "Fibrosing alveolitis, cryptogenic", + "Familial idiopathic pulmonary fibrosis", + "Fibrocystic pulmonary dysplasia", + "Fibrosing alveolitis" + ] + }, + { + "gard_id": "GARD:0008610", + "name": "Harlequin syndrome", + "synonyms": [ + "Unilateral loss of facial flushing and sweating with contralateral anhidrosis", + "Sudden onset of unilateral flushing and sweating", + "Progressive isolated segmental anhidrosis" + ] + }, + { + "gard_id": "GARD:0008612", + "name": "Primary hyperparathyroidism", + "synonyms": [ + "Hyperparathyroidism, primary" + ] + }, + { + "gard_id": "GARD:0008614", + "name": "Sickle cell anemia", + "synonyms": [ + "HbS disease", + "Hemoglobin S Disease", + "Sickling disorder due to hemoglobin S" + ] + }, + { + "gard_id": "GARD:0008616", + "name": "Systemic mastocytosis", + "synonyms": [ + "Systemic mast cell disease", + "SMCD" + ] + }, + { + "gard_id": "GARD:0008618", + "name": "Primary myelofibrosis", + "synonyms": [ + "Idiopathic myelofibrosis", + "Myeloid metaplasia", + "Agnogenic myeloid metaplasia" + ] + }, + { + "gard_id": "GARD:0008620", + "name": "Glomus vagale tumor", + "synonyms": [ + "Vagal paraganglioma" + ] + }, + { + "gard_id": "GARD:0008621", + "name": "Intraocular melanoma", + "synonyms": [ + "Melanoma of the Uvea", + "Uveal melanoma" + ] + }, + { + "gard_id": "GARD:0008622", + "name": "Immunodeficiency with thymoma", + "synonyms": [ + "Thymoma-immunodeficiency syndrome", + "Good syndrome" + ] + }, + { + "gard_id": "GARD:0008623", + "name": "Halal syndrome", + "synonyms": [ + "Microcephaly cleft palate autosomal dominant" + ] + }, + { + "gard_id": "GARD:0008625", + "name": "Reticular dysgenesis", + "synonyms": [ + "RD", + "Severe combined immunodeficiency with leukopenia", + "Congenital aleukia", + "DeVaal disease" + ] + }, + { + "gard_id": "GARD:0008627", + "name": "Krukenberg carcinoma", + "synonyms": [ + "Krukenberg’s tumor", + "Krukenberg tumor" + ] + }, + { + "gard_id": "GARD:0008629", + "name": "Acute hemorrhagic leukoencephalitis", + "synonyms": [ + "AHL", + "AHLE" + ] + }, + { + "gard_id": "GARD:0008630", + "name": "Chromosome 10q duplication", + "synonyms": [ + "Duplication 10q", + "Trisomy 10q", + "10q duplication", + "10q trisomy", + "Partial trisomy 10q" + ] + }, + { + "gard_id": "GARD:0008631", + "name": "Chromosome 18p deletion", + "synonyms": [ + "18p-", + "Monosomy 18p" + ] + }, + { + "gard_id": "GARD:0008635", + "name": "2-hydroxyethyl methacrylate sensitization", + "synonyms": [ + "Sensitization to 2-hydroxyethyl methacrylate", + "2-HEMA sensitization" + ] + }, + { + "gard_id": "GARD:0008638", + "name": "Acute leukemia of ambiguous lineage", + "synonyms": [ + "Biphenotypic acute leukemia", + "BAL", + "AML with lymphoid markers", + "ALL with myeloid markers", + "Mixed lineage acute leukemia", + "Hybrid acute leukemia", + "Undifferentiated acute leukemia", + "Acute leukemia of ambiguous lineage", + "Mixed phenotype acute leukemia", + "Acute leukemia of undetermined lineage", + "Acute biphenotypic leukemia", + "Acute leukemia of indeterminate lineage" + ] + }, + { + "gard_id": "GARD:0008639", + "name": "Acute disseminated encephalomyelitis", + "synonyms": [ + "ADE", + "ADEM" + ] + }, + { + "gard_id": "GARD:0008640", + "name": "Acute zonal occult outer retinopathy", + "synonyms": [ + "AZOOR" + ] + }, + { + "gard_id": "GARD:0008641", + "name": "Adnexal spiradenoma/cylindroma of a sweat gland", + "synonyms": [ + "Adnexal sweat gland spiradenoma/cylindroma" + ] + }, + { + "gard_id": "GARD:0008642", + "name": "Granulosa cell tumor of the ovary", + "synonyms": [ + "GCT of the ovary", + "Granulosa theca cell tumor", + "GTCT", + "Adult granulosa cell tumor of the ovary", + "Granulosa theca cell tumor of the ovary" + ] + }, + { + "gard_id": "GARD:0008644", + "name": "Alveolar capillary dysplasia", + "synonyms": [ + "Congenital alveolar capillary dysplasia", + "Pulmonary hypertension, familial persistent of the newborn", + "Familial persistent pulmonary hypertension of the newborn", + "Alveolar capillary dysplasia with pulmonary venous misalignment", + "Alveolar capillary dysplasia with misalignment of pulmonary veins" + ] + }, + { + "gard_id": "GARD:0008646", + "name": "Aneurysmal bone cysts", + "synonyms": null + }, + { + "gard_id": "GARD:0008648", + "name": "Desmoplastic infantile ganglioglioma", + "synonyms": [ + "DIG" + ] + }, + { + "gard_id": "GARD:0008649", + "name": "Benign eccrine spiradenoma", + "synonyms": [ + "Eccrine spiradenoma, benign", + "ES", + "Eccrine spiradenoma" + ] + }, + { + "gard_id": "GARD:0008650", + "name": "Embryonal sarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0008651", + "name": "Enlarged vestibular aqueduct syndrome", + "synonyms": [ + "Large vestibular aqueduct syndrome" + ] + }, + { + "gard_id": "GARD:0008653", + "name": "Erythema elevatum diutinum", + "synonyms": null + }, + { + "gard_id": "GARD:0008658", + "name": "Glomus tympanicum tumor", + "synonyms": [ + "Glomus tympanicum paraganglioma" + ] + }, + { + "gard_id": "GARD:0008659", + "name": "Fibular hemimelia", + "synonyms": [ + "Congenital longitudinal deficiency of the fibula", + "Fibular longitudinal meromelia" + ] + }, + { + "gard_id": "GARD:0008660", + "name": "Gerstmann syndrome", + "synonyms": [ + "GS", + "Developmental Gerstmann syndrome", + "Gerstmann Badal syndrome", + "Gerstmann tetrad" + ] + }, + { + "gard_id": "GARD:0008661", + "name": "Gastroschisis", + "synonyms": [ + "Congenital fissure of the abdominal cavity", + "Laparoschisis" + ] + }, + { + "gard_id": "GARD:0008662", + "name": "Osteodysplasty precocious of Danks Mayne and Kozlowski", + "synonyms": [ + "Danks Mayne Kozlowski precocious osteodysplasty" + ] + }, + { + "gard_id": "GARD:0008663", + "name": "Auriculoosteodysplasia", + "synonyms": [ + "Multiple osseous dysplasia, characteristic ear shape, and short stature", + "Auriculo-osteodysplasia" + ] + }, + { + "gard_id": "GARD:0008668", + "name": "Chromosome 22q deletion", + "synonyms": [ + "Deletion 22q", + "Monosomy 22q", + "22q deletion", + "22q monosomy", + "Partial monosomy 22q" + ] + }, + { + "gard_id": "GARD:0008669", + "name": "Chromosome 1q deletion", + "synonyms": [ + "Deletion 1q", + "Monosomy 1q", + "1q deletion", + "1q monosomy", + "Partial monosomy 1q" + ] + }, + { + "gard_id": "GARD:0008672", + "name": "Kleefstra syndrome", + "synonyms": [ + "9q34.3 microdeletion syndrome", + "Chromosome 9q deletion syndrome", + "Chromosome 9q34.3 deletion syndrome", + "9q- syndrome" + ] + }, + { + "gard_id": "GARD:0008676", + "name": "Weber syndrome", + "synonyms": [ + "Midbrain stroke syndromes" + ] + }, + { + "gard_id": "GARD:0008680", + "name": "Benign mesonephroma", + "synonyms": [ + "Wolffian adnexal tumor", + "WAT", + "Female adnexal tumor of probable Wolffian origin", + "FATWO", + "Wolffian adenoma", + "Mesonephric adenoma", + "Wolffian duct adenoma", + "Wolffian tumor" + ] + }, + { + "gard_id": "GARD:0008683", + "name": "Crigler-Najjar syndrome type 2", + "synonyms": [ + "Crigler-Najjar syndrome, type II", + "Crigler Najjar syndrome type 2", + "Arias syndrome" + ] + }, + { + "gard_id": "GARD:0008684", + "name": "Symmastia", + "synonyms": [ + "Medial confluence of the breasts" + ] + }, + { + "gard_id": "GARD:0008685", + "name": "Stachybotrys chartarum", + "synonyms": [ + "Stachybotrys atra" + ] + }, + { + "gard_id": "GARD:0008686", + "name": "Autoimmune lymphoproliferative syndrome", + "synonyms": [ + "ALPS", + "Canale-Smith syndrome", + "Autoimmune lymphoproliferative syndrome type 1, autosomal dominant", + "FAS deficiency" + ] + }, + { + "gard_id": "GARD:0008687", + "name": "Non-A-E hepatitis", + "synonyms": [ + "Viral hepatitis non-A,-B,-C,-D,-E", + "Hepatitis X" + ] + }, + { + "gard_id": "GARD:0008689", + "name": "Autoimmune enteropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0008692", + "name": "Whooping cough", + "synonyms": [ + "Bordetella pertussis infection", + "Pertussis" + ] + }, + { + "gard_id": "GARD:0008694", + "name": "Osteogenesis imperfecta type I", + "synonyms": [ + "OI type 1", + "Osteogenesis imperfecta tarda", + "Osteogenesis imperfecta with blue sclerae", + "Classic non-deforming OI with blue sclerae", + "Adair-Dighton syndrome", + "Mild osteogenesis imperfecta", + "Non-deforming osteogenesis imperfecta", + "Van der Hoeve syndrome" + ] + }, + { + "gard_id": "GARD:0008695", + "name": "Osteogenesis imperfecta type III", + "synonyms": [ + "OI type 3", + "Osteogenesis imperfecta, progressively deforming with normal sclerae", + "OI type III", + "Progressively deforming OI", + "Progressive deforming osteogenesis imperfecta", + "Severe osteogenesis imperfecta" + ] + }, + { + "gard_id": "GARD:0008696", + "name": "Osteogenesis imperfecta type IV", + "synonyms": [ + "OI type 4", + "Osteogenesis imperfecta with normal sclerae", + "OI type IV", + "Common variable OI with normal sclerae" + ] + }, + { + "gard_id": "GARD:0008698", + "name": "Gnathodiaphyseal dysplasia", + "synonyms": [ + "Levin syndrome 2", + "Osteogenesis imperfecta with unusual skeletal lesions", + "GDD" + ] + }, + { + "gard_id": "GARD:0008699", + "name": "Osteogenesis imperfecta type V", + "synonyms": [ + "OI type 5", + "Type V OI", + "OI type V", + "OI with calcification in interosseous membranes" + ] + }, + { + "gard_id": "GARD:0008700", + "name": "Osteogenesis imperfecta type VI", + "synonyms": [ + "OI type 6", + "OI6", + "OI type VI", + "Osteogenesis imperfecta type", + "SERPINFI- related osteogenesis imperfecta" + ] + }, + { + "gard_id": "GARD:0008701", + "name": "Osteogenesis imperfecta type VII", + "synonyms": [ + "OI type 7", + "OI type VII" + ] + }, + { + "gard_id": "GARD:0008702", + "name": "Atypical hemolytic uremic syndrome", + "synonyms": [ + "aHUS", + "Atypical HUS", + "HUS, atypical" + ] + }, + { + "gard_id": "GARD:0008703", + "name": "Primary angiitis of the central nervous system", + "synonyms": [ + "PACNS", + "Primary central nervous system vasculitis", + "Primary CNS vasculitis", + "Granulomatous angiitis of the central nervous system" + ] + }, + { + "gard_id": "GARD:0008704", + "name": "Benign angiitis of the central nervous system", + "synonyms": [ + "BACNS" + ] + }, + { + "gard_id": "GARD:0008706", + "name": "Stewart Treves syndrome", + "synonyms": [ + "Angiosarcoma associated with chronic lymphedema", + "Postmastectomy extremity angiosarcoma", + "Lymphangiosarcoma following mastectomy" + ] + }, + { + "gard_id": "GARD:0008707", + "name": "Absence of Tibia", + "synonyms": [ + "Bilateral absence of the tibia", + "Tibial hemimelia", + "Tibia, absence of" + ] + }, + { + "gard_id": "GARD:0008708", + "name": "Amyloid neuropathy", + "synonyms": [ + "Neuropathy amyloid" + ] + }, + { + "gard_id": "GARD:0008709", + "name": "Absent patella", + "synonyms": [ + "Patella aplasia-hypoplasia", + "PTLAH", + "Familial absence of the patella", + "Familial aplasia of the patella (subtype)" + ] + }, + { + "gard_id": "GARD:0008711", + "name": "Spheroid body myopathy", + "synonyms": [ + "Autosomal dominant spheroid body myopathy" + ] + }, + { + "gard_id": "GARD:0008713", + "name": "Achondrogenesis type 2", + "synonyms": [ + "ACG2", + "Achondrogenesis, Langer-Saldino type", + "Langer-Saldino achondrogenesis", + "Chondrogenesis imperfecta" + ] + }, + { + "gard_id": "GARD:0008717", + "name": "Spondylometaphyseal dysplasia with dentinogenesis imperfecta", + "synonyms": [ + "Goldblatt syndrome", + "Odontochondrodysplasia", + "ODCD", + "Goldblatt chondrodysplasia" + ] + }, + { + "gard_id": "GARD:0008719", + "name": "Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism", + "synonyms": [ + "SMD with with bowed forearms and facial dysmorphism" + ] + }, + { + "gard_id": "GARD:0008720", + "name": "Axial spondylometaphyseal dysplasia", + "synonyms": [ + "Axial SMD", + "Spondylometaphyseal dysplasia axial type", + "SMD Axial" + ] + }, + { + "gard_id": "GARD:0008721", + "name": "Paroxysmal kinesigenic choreoathetosis", + "synonyms": [ + "Familial paroxysmal kinesigenic dyskinesia", + "Familial PKD", + "Paroxysmal kinesigenic choreathetosis", + "DYT-PRRT2", + "Paroxysmal kinesigenic dyskinesia", + "Dystonia 10", + "Episodic kinesigenic dyskinesia 1" + ] + }, + { + "gard_id": "GARD:0008722", + "name": "Paroxysomal nonkinesigenic dyskinesia", + "synonyms": [ + "DYT-MR-1" + ] + }, + { + "gard_id": "GARD:0008723", + "name": "5q- syndrome", + "synonyms": [ + "5q deletion syndrome", + "Refractory macrocytic anemia due to 5q deletion", + "MAR", + "5q syndrome", + "5q minus syndrome" + ] + }, + { + "gard_id": "GARD:0008729", + "name": "Neurosyphilis", + "synonyms": null + }, + { + "gard_id": "GARD:0008730", + "name": "Syphilitic myelopathy", + "synonyms": [ + "Tabes dorsalis" + ] + }, + { + "gard_id": "GARD:0008731", + "name": "Syphilitic aseptic meningitis", + "synonyms": [ + "Syphilitic meningitis", + "Meningitis, syphilitic", + "Meningeal syphilis" + ] + }, + { + "gard_id": "GARD:0008732", + "name": "Hemophilia B", + "synonyms": [ + "Christmas disease", + "Factor IX deficiency", + "HEM B" + ] + }, + { + "gard_id": "GARD:0008735", + "name": "Childhood hypophosphatasia", + "synonyms": [ + "Childhood-onset hypophosphatasia", + "Childhood-onset phosphoethanolaminuria", + "Childhood-onset Rathburn disease" + ] + }, + { + "gard_id": "GARD:0008737", + "name": "Idiopathic hypersomnia", + "synonyms": [ + "Idiopathic hypersomnolence", + "Primary hypersomnia" + ] + }, + { + "gard_id": "GARD:0008741", + "name": "Unilateral absence of a pulmonary artery", + "synonyms": [ + "Isolated unilateral absence of a pulmonary artery", + "Isolated UAPA", + "Pulmonary artery, isolated unilateral absence of", + "Congenital absence of the pulmonary artery" + ] + }, + { + "gard_id": "GARD:0008742", + "name": "Limbic encephalitis", + "synonyms": null + }, + { + "gard_id": "GARD:0008743", + "name": "Meckel syndrome type 2", + "synonyms": [ + "MKS2" + ] + }, + { + "gard_id": "GARD:0008744", + "name": "Meckel syndrome type 3", + "synonyms": [ + "MKS3" + ] + }, + { + "gard_id": "GARD:0008745", + "name": "Marinesco-Sjogren-like syndrome (MSLS)", + "synonyms": [ + "Juvenile cataract, cerebellar atrophy, mental retardation, and myopathy" + ] + }, + { + "gard_id": "GARD:0008746", + "name": "Sjogren's syndrome, juvenile, secondary to autoimmune disease", + "synonyms": null + }, + { + "gard_id": "GARD:0008748", + "name": "Camurati Engelmann disease, type 2", + "synonyms": [ + "CED2", + "Progressive diaphyseal dysplasia with striations of the bones" + ] + }, + { + "gard_id": "GARD:0008750", + "name": "Coxa vara, congenital", + "synonyms": null + }, + { + "gard_id": "GARD:0008754", + "name": "Greenberg dysplasia", + "synonyms": [ + "HEM", + "HEM dysplasia", + "HEM/Greenberg dysplasia", + "Greenberg skeletal dysplasia", + "Autosomal recessive lethal chondrodystrophy with congenital hydrops", + "Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia", + "Hydrops-ectopic calcification-motheaten syndrome", + "Skeletal dysplasia, Greenberg type" + ] + }, + { + "gard_id": "GARD:0008755", + "name": "Arhinia choanal atresia microphthalmia", + "synonyms": [ + "Bosma arhinia microphthalmia syndrome", + "Bosma Henkin Christiansen syndrome", + "Congenital absence of nose and anterior nasopharynx" + ] + }, + { + "gard_id": "GARD:0008756", + "name": "Arts syndrome", + "synonyms": [ + "ARTS", + "X-linked fatal ataxia with deafness and loss of vision", + "Lethal ataxia-deafness-optic atrophy", + "Lethal ataxia with deafness and optic atrophy" + ] + }, + { + "gard_id": "GARD:0008757", + "name": "Pleuropulmonary blastoma", + "synonyms": [ + "Pulmonary blastoma", + "PPB" + ] + }, + { + "gard_id": "GARD:0008759", + "name": "Ocular cicatricial pemphigoid", + "synonyms": [ + "Cicatricial pemphigoid, ocular", + "Pemphigoid, ocular cicatricial" + ] + }, + { + "gard_id": "GARD:0008761", + "name": "Keshan disease", + "synonyms": [ + "Caused by deficiency of selenium in the diet", + "Enlarged heart and poor heart function" + ] + }, + { + "gard_id": "GARD:0009118", + "name": "Fanconi syndrome", + "synonyms": [ + "Primary Fanconi renotubular syndrome", + "Fanconi renotubular syndrome", + "Primary Fanconi syndrome" + ] + }, + { + "gard_id": "GARD:0009119", + "name": "Lung agenesis", + "synonyms": [ + "Unilateral lung agenesis", + "Congenital lung agenesis", + "Pulmonary agenesis", + "Unilateral lobar pulmonary agenesis" + ] + }, + { + "gard_id": "GARD:0009124", + "name": "Treacher Collins syndrome", + "synonyms": [ + "Treacher Collins-Franceschetti syndrome", + "Mandibulofacial dysostosis", + "TCOF", + "TCS", + "MFD1" + ] + }, + { + "gard_id": "GARD:0009125", + "name": "Treacher Collins syndrome 3", + "synonyms": [ + "TCS3", + "Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0009126", + "name": "Dysgnathia complex", + "synonyms": [ + "Agnathia-holoprosencephaly", + "Holoprosencephaly-agnathia" + ] + }, + { + "gard_id": "GARD:0009128", + "name": "Idiopathic inflammatory myopathy", + "synonyms": [ + "Idiopathic inflammatory myopathy, familial", + "IIM", + "Myositis", + "Idiopathic inflammatory myositis", + "IMM" + ] + }, + { + "gard_id": "GARD:0009129", + "name": "Minicore myopathy, antenatal onset, with arthrogryposis", + "synonyms": [ + "Multicore myopathy, antenatal onset, with arthrogryposis", + "Multiminicore myopathy, antenatal onset, with arthrogryposis" + ] + }, + { + "gard_id": "GARD:0009130", + "name": "Multicore disease", + "synonyms": [ + "Multiocre myopathy" + ] + }, + { + "gard_id": "GARD:0009131", + "name": "Infective myositis", + "synonyms": null + }, + { + "gard_id": "GARD:0009132", + "name": "Adult progressive spinal muscular atrophy Aran Duchenne type", + "synonyms": [ + "Aran Duchenne spinal muscular atrophy", + "Adult SMA Aran Duchenne type" + ] + }, + { + "gard_id": "GARD:0009134", + "name": "Congenital myotonic dystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0009136", + "name": "Ocular Muscular Dystrophy", + "synonyms": [ + "Ocular MD" + ] + }, + { + "gard_id": "GARD:0009138", + "name": "Congenital muscular dystrophy", + "synonyms": [ + "Congenital MD", + "CMD", + "MDC" + ] + }, + { + "gard_id": "GARD:0009139", + "name": "Autoimmune progesterone dermatitis", + "synonyms": [ + "APD" + ] + }, + { + "gard_id": "GARD:0009142", + "name": "Eosinophilic gastroenteritis", + "synonyms": [ + "Eosinophilic gastritis", + "Eosinophilic enteritis", + "Eosinophilic gastroenteropathy", + "Eosinophilic esophagitis", + "EGE", + "Eosinophilic gastroenterocolitis" + ] + }, + { + "gard_id": "GARD:0009143", + "name": "Retinoschisis of Fovea", + "synonyms": [ + "Foveal retinoschisis", + "Familial foveal retinoschisis" + ] + }, + { + "gard_id": "GARD:0009144", + "name": "Retinoschisis autosomal dominant", + "synonyms": [ + "Autosomal dominant retinoschisis" + ] + }, + { + "gard_id": "GARD:0009145", + "name": "Autosomal dominant pseudohypoaldosteronism type 1", + "synonyms": [ + "Pseudohypoaldosteronism type 1 autosomal dominant", + "Pseudohypoaldosteronism type 1, dominant", + "Renal pseudohypoaldosteronism type 1", + "Renal PHA1", + "PHA1A" + ] + }, + { + "gard_id": "GARD:0009146", + "name": "Cardiofaciocutaneous syndrome", + "synonyms": [ + "CFC syndrome", + "Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure", + "Cardio-facio-cutaneous syndrome" + ] + }, + { + "gard_id": "GARD:0009147", + "name": "Minimal change disease", + "synonyms": [ + "Idiopathic minimal change nephrotic syndrome", + "Minimal change nephrotic syndrome", + "Minimal change glomerulopathy", + "MCNS" + ] + }, + { + "gard_id": "GARD:0009148", + "name": "Pelger-Huet anomaly", + "synonyms": [ + "PHA", + "Pelger Huet anomaly", + "Pelger-Huet nuclear anomaly", + "Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" + ] + }, + { + "gard_id": "GARD:0009149", + "name": "Retinitis pigmentosa 1", + "synonyms": [ + "RP1" + ] + }, + { + "gard_id": "GARD:0009152", + "name": "3-beta-hydroxysteroid dehydrogenase deficiency", + "synonyms": [ + "Adrenal hyperplasia 2", + "Adrenal hyperplasia II", + "3b-hydroxysteroid dehydrogenase deficiency", + "HSD3B deficiency", + "3-beta-HSD deficiency", + "Type II 3-beta-hydroxysteroid dehydrogenase deficiency", + "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency", + "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0009154", + "name": "Acetyl CoA acetyltransferase 2 deficiency", + "synonyms": [ + "ACAT2", + "Acetocoenzyme A acetyltransferase 2", + "Acetoacetyl CoA thiolase, cytosolic" + ] + }, + { + "gard_id": "GARD:0009156", + "name": "Mental retardation X-linked syndromic 7", + "synonyms": [ + "MRXS7", + "Mental retardation, obesity, hypogonadism, and tapering fingers", + "Ahmad X-linked Mental retardation syndrome" + ] + }, + { + "gard_id": "GARD:0009157", + "name": "X-linked intellectual disability, Abidi type", + "synonyms": [ + "MRXSAB", + "Intellectual disability X-linked Abidi type", + "Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" + ] + }, + { + "gard_id": "GARD:0009158", + "name": "Brody myopathy", + "synonyms": [ + "Brody disease", + "Sarcoplasmic reticulum -Ca2+ATPase deficiency" + ] + }, + { + "gard_id": "GARD:0009159", + "name": "Dosage-sensitive sex reversal", + "synonyms": [ + "DSS" + ] + }, + { + "gard_id": "GARD:0009161", + "name": "Kanzaki disease", + "synonyms": [ + "Alpha-N-acetylgalactosaminidase deficiency type 2", + "Alpha-N-acetylgalactosaminidase deficiency adult onset", + "NAGA deficiency type 2", + "Schindler disease type 2" + ] + }, + { + "gard_id": "GARD:0009162", + "name": "Fallopian tube cancer", + "synonyms": [ + "Cancer of the fallopian tube" + ] + }, + { + "gard_id": "GARD:0009163", + "name": "Roifman syndrome", + "synonyms": [ + "Spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency" + ] + }, + { + "gard_id": "GARD:0009164", + "name": "Rippling muscle disease", + "synonyms": [ + "RMD" + ] + }, + { + "gard_id": "GARD:0009165", + "name": "Rippling muscle disease, 1", + "synonyms": [ + "RMD1" + ] + }, + { + "gard_id": "GARD:0009166", + "name": "Deafness, autosomal dominant nonsyndromic sensorineural 24", + "synonyms": [ + "DFNA 24" + ] + }, + { + "gard_id": "GARD:0009167", + "name": "Deafness, autosomal dominant nonsyndromic sensorineural 22", + "synonyms": [ + "DFNA 22" + ] + }, + { + "gard_id": "GARD:0009168", + "name": "Polyostotic osteolytic dysplasia, hereditary expansile", + "synonyms": [ + "HEPOD", + "Mccabe disease", + "Familial expansile osteolysis", + "FEO", + "Osteolysis, familial expansile", + "Expansile osteolysis, familial", + "EOF" + ] + }, + { + "gard_id": "GARD:0009169", + "name": "Dementia, familial Danish", + "synonyms": [ + "FDD", + "Familial Danish dementia", + "Cerebellar ataxia, cataract, deafness, and dementia or psychosis", + "Heredopathia ophthalmootoencephalica", + "HOOE", + "ITM2B amyloidosis" + ] + }, + { + "gard_id": "GARD:0009170", + "name": "Hypotrichosis simplex", + "synonyms": [ + "HHS" + ] + }, + { + "gard_id": "GARD:0009171", + "name": "Iris hypoplasia and glaucoma", + "synonyms": [ + "IHG" + ] + }, + { + "gard_id": "GARD:0009172", + "name": "Keratosis palmoplantaris striata 1", + "synonyms": [ + "PPKS1", + "Striate palmoplantar keratoderma 1", + "SPPK1", + "Keratoderma, palmoplantar striate form 1" + ] + }, + { + "gard_id": "GARD:0009173", + "name": "Keratosis palmoplantaris striata 3", + "synonyms": [ + "PPKS3", + "Striate palmoplantar keratoderma 3", + "Keratoderma palmoplantar striate form 3" + ] + }, + { + "gard_id": "GARD:0009174", + "name": "Parkinson disease type 9", + "synonyms": [ + "Park 9", + "Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia", + "KRPPD", + "Kufor-Rakeb syndrome", + "Autosomal recessive Parkinson disease 9" + ] + }, + { + "gard_id": "GARD:0009175", + "name": "Pallidopyramidal syndrome", + "synonyms": [ + "Pallido-pyramidal disease" + ] + }, + { + "gard_id": "GARD:0009176", + "name": "Pyogenic arthritis, pyoderma gangrenosum and acne", + "synonyms": [ + "PAPA syndrome", + "Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne", + "PAPAS", + "Familial recurrent arthritis", + "FRA" + ] + }, + { + "gard_id": "GARD:0009177", + "name": "Lethal congenital contracture syndrome 2", + "synonyms": [ + "LCCS2", + "Multiple contracture syndrome, Israeli Bedouin type" + ] + }, + { + "gard_id": "GARD:0009178", + "name": "MEHMO syndrome", + "synonyms": [ + "MEHMO", + "X-linked MEHMO syndrome", + "Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity", + "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" + ] + }, + { + "gard_id": "GARD:0009179", + "name": "North Carolina macular dystrophy", + "synonyms": [ + "NCMD", + "Macular dystrophy retinal 1 North Carolina type", + "MCDR1", + "Central areolar pigment epithelial dystrophy", + "CAPED", + "Retinal pigment epithelial dystrophy central", + "Foveal dystrophy progressive" + ] + }, + { + "gard_id": "GARD:0009180", + "name": "Membranous nephropathy", + "synonyms": [ + "Idiopathic membranous nephropathy", + "MGN", + "Membranous glomerulonephritis", + "Membranous GN", + "Glomerulonephritis, membranous", + "Extramembranous glomerulonephritis" + ] + }, + { + "gard_id": "GARD:0009181", + "name": "Abdominal aortic aneurysm", + "synonyms": [ + "Aneurysm, abdominal aortic" + ] + }, + { + "gard_id": "GARD:0009182", + "name": "Duane-radial ray syndrome", + "synonyms": [ + "Okihiro syndrome", + "DR syndrome", + "Duane anomaly with radial abnormalities and deafness", + "DRRS", + "Acrorenoocular syndrome" + ] + }, + { + "gard_id": "GARD:0009184", + "name": "Progressive pseudorheumatoid dysplasia", + "synonyms": [ + "PPAC", + "Spondyloepiphyseal dysplasia tarda - progressive arthropathy", + "PPD", + "SEDT-PA", + "Arthropathy, progressive pseudorheumatoid, of childhood", + "Spondyloepiphyseal dysplasia tarda with progressive arthropathy", + "Progressive pseudorheumatoid chondrodysplasia", + "Progressive pseudorheumatoid arthropathy of childhood", + "Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" + ] + }, + { + "gard_id": "GARD:0009185", + "name": "Atypical mycobacteriosis, familial", + "synonyms": [ + "Atypical mycobacterial infection, disseminated", + "Atypical mycobacterial infection, familial disseminated", + "Mycobacterial disease, Mendelian susceptibility to", + "MSMD" + ] + }, + { + "gard_id": "GARD:0009189", + "name": "Charcot-Marie-Tooth disease type 1D", + "synonyms": [ + "CMT 1D", + "Charcot-Marie-Tooth disease, demyelinating, Type 1D", + "Hereditary motor and sensory neuropathy 1D", + "HMSN 1D", + "Charcot Marie Tooth disease type 1D" + ] + }, + { + "gard_id": "GARD:0009190", + "name": "Charcot-Marie-Tooth disease type 1E", + "synonyms": [ + "CMT 1E", + "Charcot-Marie-Tooth disease, demyelinating, Type 1E", + "Charcot-Marie-Tooth disease and deafness", + "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant", + "Charcot Marie Tooth disease type 1E" + ] + }, + { + "gard_id": "GARD:0009191", + "name": "Charcot-Marie-Tooth disease type 1F", + "synonyms": [ + "CMT 1F", + "Charcot-Marie-Tooth disease, demyelinating, Type 1F", + "Charcot Marie Tooth disease type 1F" + ] + }, + { + "gard_id": "GARD:0009192", + "name": "Charcot-Marie-Tooth disease type 2B", + "synonyms": [ + "CMT 2B", + "Charcot-Marie-Tooth disease, axonal, Type 2B", + "Charcot-Marie-Tooth disease, neuronal, Type 2B", + "Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)", + "Peripheral sensory neuropathy, autosomal dominant (PSN)", + "Charcot Marie Tooth disease type 2B" + ] + }, + { + "gard_id": "GARD:0009193", + "name": "Charcot-Marie-Tooth disease type 2E", + "synonyms": [ + "CMT 2E", + "Charcot-Marie-Tooth disease, axonal, Type 2E", + "Charcot Marie Tooth disease type 2E" + ] + }, + { + "gard_id": "GARD:0009194", + "name": "Charcot-Marie-Tooth disease type 2F", + "synonyms": [ + "CMT 2F", + "Charcot-Marie-Tooth disease, axonal, Type 2F", + "Charcot-Marie-Tooth disease, neuronal, Type 2F", + "Charcot Marie Tooth disease type 2F", + "Charcot-Marie-Tooth neuropathy, type 2F" + ] + }, + { + "gard_id": "GARD:0009195", + "name": "Charcot-Marie-Tooth disease type 2G", + "synonyms": [ + "CMT 2G", + "Charcot-Marie-Tooth disease, axonal, Type 2G", + "Charcot-Marie-Tooth disease, Type 4A, axonal form", + "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive", + "Charcot Marie Tooth disease type 2G" + ] + }, + { + "gard_id": "GARD:0009196", + "name": "Charcot-Marie-Tooth disease type 2H", + "synonyms": [ + "CMT 2H", + "Charcot-Marie-Tooth disease, axonal, Type 2H", + "Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive", + "Charcot Marie Tooth disease type 2H", + "Autosomal recessive axonal CMT4C2", + "Axonal Charcot-Marie-Tooth disease with pyramidal involvement", + "CMT2H" + ] + }, + { + "gard_id": "GARD:0009197", + "name": "Charcot-Marie-Tooth disease type 2I", + "synonyms": [ + "CMT 2I", + "Charcot-Marie-Tooth disease, axonal, Type 2I", + "Charcot Marie Tooth disease type 2I" + ] + }, + { + "gard_id": "GARD:0009198", + "name": "Charcot-Marie-Tooth disease type 2J", + "synonyms": [ + "CMT 2J", + "Charcot-Marie-Tooth disease, axonal, Type 2J", + "Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities", + "Charcot Marie Tooth disease type 2J" + ] + }, + { + "gard_id": "GARD:0009199", + "name": "Charcot-Marie-Tooth disease type 2K", + "synonyms": [ + "CMT 2K", + "Charcot-Marie-Tooth disease, axonal, Type 2K", + "Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K", + "Charcot Marie Tooth disease type 2K" + ] + }, + { + "gard_id": "GARD:0009200", + "name": "Charcot-Marie-Tooth disease type 4B2", + "synonyms": [ + "CMT 4B2", + "Charcot Marie Tooth disease type 4B2", + "CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", + "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2" + ] + }, + { + "gard_id": "GARD:0009201", + "name": "Charcot-Marie-Tooth disease type 4C", + "synonyms": [ + "CMT 4C", + "Charcot Marie Tooth disease type 4C", + "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C", + "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C" + ] + }, + { + "gard_id": "GARD:0009203", + "name": "Charcot-Marie-Tooth disease type 4E", + "synonyms": [ + "CMT 4E", + "Congenital hypomyelinating neuropathy (CHN)", + "Neuropathy, congenital hypomyelinating", + "CMT4E", + "Hypomyelination, severe congenital", + "CHN", + "Charcot Marie Tooth disease type 4E", + "Autosomal recessive congenital hypomyelinating neuropathy", + "Congenital hypomyelination neuropathy" + ] + }, + { + "gard_id": "GARD:0009204", + "name": "Hypertrophic neuropathy of Dejerine-Sottas", + "synonyms": [ + "Dejerine-Sottas syndrome", + "DSS", + "Charcot-Marie-Tooth Disease, type 3", + "CMT3", + "Hereditary motor and sensory neuropathy 3", + "HMSN3", + "Dejerine-Sottas neuropathy", + "DSN", + "Charcot-Marie-Tooth disease type 3", + "Hereditary motor and sensory neuropathy type 3", + "HMSN 3", + "Hypertrophic neuropathy of infancy", + "Hereditary motor and sensory neuropathy type III", + "HMSN III" + ] + }, + { + "gard_id": "GARD:0009206", + "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F", + "synonyms": [ + "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F", + "CMTDIF", + "GNB4-related intermediate Charcot-Marie-Tooth neuropathy", + "DI-CMTF" + ] + }, + { + "gard_id": "GARD:0009207", + "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D", + "synonyms": [ + "Charcot Marie Tooth disease dominant intermediate 3", + "DI-CMTD", + "CMTDID", + "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" + ] + }, + { + "gard_id": "GARD:0009208", + "name": "Hereditary motor and sensory neuropathy type 5", + "synonyms": [ + "CMT with pyramidal features", + "Hereditary motor and sensory neuropathy 5", + "HMSN 5", + "Peroneal muscular atrophy with pyramidal features, autosomal dominant" + ] + }, + { + "gard_id": "GARD:0009210", + "name": "Thiamine responsive megaloblastic anemia syndrome", + "synonyms": [ + "Thiamine-responsive anemia syndrome", + "TRMA", + "Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness", + "Rogers syndrome", + "Thiamine-responsive myelodysplasia" + ] + }, + { + "gard_id": "GARD:0009211", + "name": "Aglossia and Situs Inversus", + "synonyms": null + }, + { + "gard_id": "GARD:0009212", + "name": "Schinzel type phocomelia", + "synonyms": [ + "AARRS", + "Ulna and fibula absence of with severe limb deficiency", + "Schinzel phocomelia syndrome", + "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome", + "Absence of ulna and fibula with severe limb deficiency", + "Phocomelia, Schinzel type", + "Al-Awadi-Raas-Rothschild syndrome" + ] + }, + { + "gard_id": "GARD:0009213", + "name": "Alsing syndrome", + "synonyms": [ + "Atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality" + ] + }, + { + "gard_id": "GARD:0009216", + "name": "Baetz-Greenwalt syndrome", + "synonyms": [ + "Hypoplastic right-sided heart complex" + ] + }, + { + "gard_id": "GARD:0009217", + "name": "Lymphedema and cerebral arteriovenous anomaly", + "synonyms": [ + "Primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" + ] + }, + { + "gard_id": "GARD:0009218", + "name": "Auralcephalosyndactyly", + "synonyms": [ + "Aural cephalosyndactyly", + "Kurczynski-Casperson syndrome" + ] + }, + { + "gard_id": "GARD:0009219", + "name": "Atlanto-Axial Fusion", + "synonyms": [ + "Atlantoaxial Fusion", + "Atlantoaxial joint fusion" + ] + }, + { + "gard_id": "GARD:0009220", + "name": "Astley-Kendall syndrome", + "synonyms": [ + "Short limbed dwarfism with extensive stippling", + "Astley-Kendall dysplasia" + ] + }, + { + "gard_id": "GARD:0009221", + "name": "Asternia", + "synonyms": [ + "Absent sternum" + ] + }, + { + "gard_id": "GARD:0009223", + "name": "Arena syndrome", + "synonyms": [ + "Spastic paraplegia with iron deposits in basal ganglia" + ] + }, + { + "gard_id": "GARD:0009225", + "name": "Tarsal carpal coalition syndrome", + "synonyms": [ + "TCC" + ] + }, + { + "gard_id": "GARD:0009226", + "name": "Abdominal obesity metabolic syndrome", + "synonyms": [ + "Metabolic syndrome X", + "AOMS1" + ] + }, + { + "gard_id": "GARD:0009227", + "name": "Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery", + "synonyms": null + }, + { + "gard_id": "GARD:0009228", + "name": "Renal agenesis", + "synonyms": null + }, + { + "gard_id": "GARD:0009229", + "name": "Bile duct cysts", + "synonyms": [ + "Choledochocele", + "Choledochal cyst", + "Congenital choledochal cyst" + ] + }, + { + "gard_id": "GARD:0009232", + "name": "Chiari malformation type 2", + "synonyms": [ + "Arnold-Chiari malformation", + "Chiari type II malformation", + "Chiari malformation type II", + "Arnold Chiari malformation type II" + ] + }, + { + "gard_id": "GARD:0009233", + "name": "Chiari malformation type 3", + "synonyms": [ + "Chiari type III malformation", + "Chiari malformation type III", + "Arnold Chiari malformation type III" + ] + }, + { + "gard_id": "GARD:0009234", + "name": "Chiari malformation type 4", + "synonyms": [ + "Chiari type IV malformation", + "Chiari malformation type IV", + "Arnold Chiari malformation type IV" + ] + }, + { + "gard_id": "GARD:0009236", + "name": "Disseminated infection with mycobacterium avium complex", + "synonyms": [ + "DMAC" + ] + }, + { + "gard_id": "GARD:0009237", + "name": "SARS", + "synonyms": [ + "Severe acute respiratory syndrome" + ] + }, + { + "gard_id": "GARD:0009238", + "name": "West Nile virus infection", + "synonyms": null + }, + { + "gard_id": "GARD:0009239", + "name": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1", + "synonyms": [ + "Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam", + "Guam disease" + ] + }, + { + "gard_id": "GARD:0009240", + "name": "Childhood acute lymphoblastic leukemia", + "synonyms": [ + "Childhood acute lymphocytic leukemia", + "Pediatric acute lymphoblastic leukemia", + "Childhood ALL" + ] + }, + { + "gard_id": "GARD:0009242", + "name": "Advanced sleep phase syndrome, familial", + "synonyms": [ + "Familial advanced sleep phase syndrome", + "FASPS" + ] + }, + { + "gard_id": "GARD:0009244", + "name": "Cervical intraepithelial neoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0009246", + "name": "Collagenopathy type 2 alpha 1", + "synonyms": [ + "COL2A1", + "Collagen II", + "Cartilage collagen" + ] + }, + { + "gard_id": "GARD:0009247", + "name": "Primary effusion lymphoma", + "synonyms": [ + "PEL", + "AIDS-related lymphoma" + ] + }, + { + "gard_id": "GARD:0009249", + "name": "Sinonasal undifferentiated carcinoma", + "synonyms": [ + "SNUC", + "Highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" + ] + }, + { + "gard_id": "GARD:0009252", + "name": "Tubulointerstitial nephritis and uveitis", + "synonyms": [ + "TINU", + "TINU syndrome" + ] + }, + { + "gard_id": "GARD:0009253", + "name": "Absence of septum pellucidum", + "synonyms": null + }, + { + "gard_id": "GARD:0009255", + "name": "Early Infantile Epileptic Encephalopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0009256", + "name": "Dyssynergia cerebellaris myoclonica", + "synonyms": [ + "Ramsay Hunt syndrome type 1 (formerly)", + "Myoclonus and ataxia", + "Dentate Cerebellar Ataxia", + "Dentatorubral Atrophy", + "Primary Dentatum Atrophy", + "Dyssynergia Cerebellaris Progressiva", + "Progressive myoclonus ataxia", + "Ramsay Hunt cerebellar syndrome" + ] + }, + { + "gard_id": "GARD:0009257", + "name": "SUNCT headache", + "synonyms": [ + "Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing", + "SUNCT syndrome" + ] + }, + { + "gard_id": "GARD:0009258", + "name": "Tarlov cysts", + "synonyms": [ + "Sacral Tarlov cysts", + "Sacral perineural cysts", + "Tarlov cyst", + "Perineural cysts", + "Sacral neural cysts" + ] + }, + { + "gard_id": "GARD:0009259", + "name": "Familial erythema nodosum", + "synonyms": [ + "Erythema nodosum, familial" + ] + }, + { + "gard_id": "GARD:0009260", + "name": "Erythema nodosum, idiopathic", + "synonyms": [ + "Idiopathic erythema nodosum", + "Erythema nodosum of unknown etiology" + ] + }, + { + "gard_id": "GARD:0009261", + "name": "Boerhaave syndrome", + "synonyms": [ + "Boerhave syndrome", + "Spontaneous rupture of the esophagus", + "Spontaneous perforation of the esophagus", + "Boerhaave's syndrome" + ] + }, + { + "gard_id": "GARD:0009262", + "name": "Paraquat lung", + "synonyms": [ + "Paraquat induced lung disease" + ] + }, + { + "gard_id": "GARD:0009263", + "name": "Wallenberg syndrome", + "synonyms": [ + "Lateral medullary syndrome", + "Posterior inferior cerebellar artery syndrome", + "PICA syndrome", + "Vertebral artery syndrome", + "Wallenberg's syndrome" + ] + }, + { + "gard_id": "GARD:0009265", + "name": "Glucose transporter type 1 deficiency syndrome", + "synonyms": [ + "GLUT1 deficiency syndrome", + "Encephalopathy due to GLUT1 deficiency", + "Glucose transport defect, blood-brain barrier", + "De Vivo disease", + "GLUT-1 deficiency syndrome", + "Glucose transporter protein syndrome", + "GLUT1 DS", + "G1D" + ] + }, + { + "gard_id": "GARD:0009266", + "name": "Merkel cell carcinoma", + "synonyms": [ + "Merkel cell cancer", + "Merkle tumors", + "Carcinoma, merkel cell", + "Cutaneous neuroendocrine carcinoma" + ] + }, + { + "gard_id": "GARD:0009267", + "name": "Herrmann syndrome", + "synonyms": [ + "Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" + ] + }, + { + "gard_id": "GARD:0009268", + "name": "Glomerulopathy with fibronectin deposits 1", + "synonyms": [ + "GFND1", + "Glomerulopathy with giant fibrillar deposits" + ] + }, + { + "gard_id": "GARD:0009270", + "name": "Endolymphatic sac tumor", + "synonyms": [ + "ELST" + ] + }, + { + "gard_id": "GARD:0009272", + "name": "Cluttering", + "synonyms": [ + "Tachyphemia" + ] + }, + { + "gard_id": "GARD:0009274", + "name": "Auditory neuropathy spectrum disorder", + "synonyms": [ + "Auditory dys-synchrony", + "Auditory neuropathy", + "Auditory dyssynchrony", + "ANSD" + ] + }, + { + "gard_id": "GARD:0009275", + "name": "Corneal dystrophy Thiel Behnke type", + "synonyms": [ + "Thiel Behnke corneal dystrophy", + "CDTB", + "Corneal dystrophy honeycomb shaped", + "Corneal dystrophy of the Bowman layer type 2", + "CDB2", + "TBCD" + ] + }, + { + "gard_id": "GARD:0009276", + "name": "Corneal dystrophy of Bowman layer type 1", + "synonyms": [ + "CDB1", + "Corneal dystrophy Reis Bucklers type", + "CDRB", + "Reis Bucklers corneal dystrophy", + "RBCD", + "Corneal dystrophy geographic", + "Reis Bucklers dystrophy" + ] + }, + { + "gard_id": "GARD:0009277", + "name": "Corneal dystrophy crystalline of Schnyder", + "synonyms": [ + "Schnyder crystalline corneal dystrophy", + "SCCD", + "Schnyder corneal dystrophy" + ] + }, + { + "gard_id": "GARD:0009278", + "name": "Corneal dystrophy Avellino type", + "synonyms": [ + "CDA", + "Avellino corneal dystrophy", + "Granular-lattice (Avellino) corneal dystrophy", + "Combined granular-lattice corneal dystrophies", + "Granular and lattice corneal dystrophies", + "Granular corneal dystrophy type 2" + ] + }, + { + "gard_id": "GARD:0009279", + "name": "Glutamate formiminotransferase deficiency", + "synonyms": [ + "Formiminotransferase deficiency syndrome", + "Formiminoglutamicaciduria (FIGLU-uria)", + "Formiminoglutamic acidemia", + "Arakawa syndrome 1" + ] + }, + { + "gard_id": "GARD:0009280", + "name": "Hardikar syndrome", + "synonyms": [ + "Cholestasis-pigmentary retinopathy-cleft palate syndrome" + ] + }, + { + "gard_id": "GARD:0009282", + "name": "White platelet syndrome", + "synonyms": [ + "Platelet granule deficiency disorder" + ] + }, + { + "gard_id": "GARD:0009283", + "name": "Ataxia with oculomotor apraxia type 1", + "synonyms": [ + "EAOH", + "Ataxia-oculomotor apraxia 1", + "AOA1", + "Ataxia-telangiectasia-like syndrome", + "Early-onset cerebellar ataxia with hypoalbuminemia", + "EOCA-HA", + "Early-onset ataxia with oculomotor apraxia and hypoalbuminemia", + "Ataxia-oculomotor apraxia type 1" + ] + }, + { + "gard_id": "GARD:0009285", + "name": "Acanthamoeba keratitis", + "synonyms": null + }, + { + "gard_id": "GARD:0009286", + "name": "Gnathostoma Infection", + "synonyms": [ + "Gnathostomiasis" + ] + }, + { + "gard_id": "GARD:0009287", + "name": "Atelosteogenesis type 1", + "synonyms": [ + "AOI", + "Giant cell chondrodysplasia", + "Spondylohumerofemoral hypoplasia" + ] + }, + { + "gard_id": "GARD:0009288", + "name": "X-linked intellectual disability, Schimke type", + "synonyms": [ + "Choreoathetosis with mental retardation X- linked" + ] + }, + { + "gard_id": "GARD:0009289", + "name": "Baby rattle pelvic dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0009292", + "name": "Microphthalmia syndromic 10", + "synonyms": [ + "MCOPS10", + "Microphthalmia and brain atrophy", + "MOBA" + ] + }, + { + "gard_id": "GARD:0009294", + "name": "Timothy syndrome", + "synonyms": [ + "LQT8", + "Long QT syndrome with syndactyly", + "Long QT syndrome 8" + ] + }, + { + "gard_id": "GARD:0009295", + "name": "Thanatophoric dysplasia type 1", + "synonyms": [ + "Thanatophoric dwarfism 1", + "Thanatophoric dysplasia type I", + "TD1", + "Thanatophoric dwarfism type 1" + ] + }, + { + "gard_id": "GARD:0009296", + "name": "Spastic paraplegia 24", + "synonyms": [ + "SPG24" + ] + }, + { + "gard_id": "GARD:0009297", + "name": "WHIM syndrome", + "synonyms": [ + "Warts, Hypogammaglobulinemia, Infections, and Myelokathexis", + "WHIMS" + ] + }, + { + "gard_id": "GARD:0009298", + "name": "Pyridoxine-dependent epilepsy", + "synonyms": [ + "Pyridoxine dependency", + "Pyridoxine dependency with seizures", + "Vitamin B6-dependent seizures", + "Antiquitin deficiency" + ] + }, + { + "gard_id": "GARD:0009299", + "name": "Acute ackee fruit intoxication", + "synonyms": [ + "Ackee poisoning", + "Jamaican vomiting sickness" + ] + }, + { + "gard_id": "GARD:0009300", + "name": "Anal cancer", + "synonyms": [ + "Cancer of the anus" + ] + }, + { + "gard_id": "GARD:0009301", + "name": "Cerebellar astrocytoma, childhood", + "synonyms": null + }, + { + "gard_id": "GARD:0009302", + "name": "Cerebral astrocytoma, childhood", + "synonyms": [ + "Childhood cerebral astrocytoma" + ] + }, + { + "gard_id": "GARD:0009303", + "name": "Basal cell carcinoma, multiple", + "synonyms": [ + "Multiple basal cell carcinoma" + ] + }, + { + "gard_id": "GARD:0009304", + "name": "Bile duct cancer", + "synonyms": [ + "Extrahepatic bile duct cancer" + ] + }, + { + "gard_id": "GARD:0009306", + "name": "Childhood brain stem glioma", + "synonyms": null + }, + { + "gard_id": "GARD:0009307", + "name": "Brain tumor, adult", + "synonyms": null + }, + { + "gard_id": "GARD:0009308", + "name": "Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified", + "synonyms": [ + "Supratentorial primitive neuroectodermal tumors, childhood", + "Childhood supratentorial primitive neuroectodermal tumors", + "Childhood Supratentorial Embryonal Tumor, NOS", + "Childhood Supratentorial PNET", + "Supratentorial Embryonal Tumor, NOS" + ] + }, + { + "gard_id": "GARD:0009309", + "name": "Visual pathway and hypothalamic glioma, childhood", + "synonyms": null + }, + { + "gard_id": "GARD:0009310", + "name": "Brain tumor, childhood", + "synonyms": null + }, + { + "gard_id": "GARD:0009312", + "name": "Breast cancer, male", + "synonyms": [ + "Male breast cancer", + "Breast cancer in men", + "Male breast carcinoma" + ] + }, + { + "gard_id": "GARD:0009313", + "name": "Bronchial adenomas/carcinoids childhood", + "synonyms": [ + "Bronchial carcinoids" + ] + }, + { + "gard_id": "GARD:0009315", + "name": "Carcinoid tumor childhood", + "synonyms": null + }, + { + "gard_id": "GARD:0009316", + "name": "Carcinoid tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0009318", + "name": "Primary central nervous system lymphoma", + "synonyms": [ + "Primary lymphoma, CNS", + "PCNSL", + "Primary brain lymphoma", + "Primary CNS lymphoma" + ] + }, + { + "gard_id": "GARD:0009319", + "name": "Chronic myeloproliferative disorders", + "synonyms": null + }, + { + "gard_id": "GARD:0009325", + "name": "Extragonadal germ cell tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0009328", + "name": "Gallbladder cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0009330", + "name": "Ovarian germ cell tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0009331", + "name": "Childhood hepatocellular carcinoma", + "synonyms": [ + "Childhood Carcinoma of Liver Cell", + "Childhood Hepatoma", + "Childhood Liver Cell Carcinoma", + "Pediatric Carcinoma of Liver Cell", + "Pediatric Hepatocellular Carcinoma", + "Pediatric Hepatoma", + "Pediatric Liver Cell Carcinoma" + ] + }, + { + "gard_id": "GARD:0009334", + "name": "Hypopharyngeal cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0009342", + "name": "Lip and oral cavity cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0009344", + "name": "Small cell lung cancer", + "synonyms": [ + "Lung Small Cell Carcinoma", + "Oat cell lung cancer", + "Small Cell Neuroendocrine Carcinoma of the Lung" + ] + }, + { + "gard_id": "GARD:0009348", + "name": "Vaginal cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0009349", + "name": "Vulvar cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0009350", + "name": "Medulloblastoma, childhood", + "synonyms": [ + "Childhood medulloblastoma" + ] + }, + { + "gard_id": "GARD:0009351", + "name": "Myelodysplastic/myeloproliferative disease", + "synonyms": [ + "Myelodysplastic/myeloproliferative neoplasm" + ] + }, + { + "gard_id": "GARD:0009354", + "name": "Paranasal sinus cancer, adult", + "synonyms": [ + "Adult paranasal sinus cancer" + ] + }, + { + "gard_id": "GARD:0009358", + "name": "Oropharyngeal cancer, adult", + "synonyms": [ + "Cancer of the oropharynx" + ] + }, + { + "gard_id": "GARD:0009360", + "name": "Oral cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0009362", + "name": "Ovarian epithelial cancer", + "synonyms": [ + "Ovarian cancer, epithelial", + "Epithelial ovarian cancer", + "EOC", + "Ovarian epithelial carcinoma" + ] + }, + { + "gard_id": "GARD:0009363", + "name": "Ovarian low malignant potential tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0009364", + "name": "Pancreatic cancer", + "synonyms": [ + "Cancer of the pancreas", + "Pancreatic carcinoma", + "Pancreas cancer", + "Pancreas carcinoma" + ] + }, + { + "gard_id": "GARD:0009366", + "name": "Penile cancer, adult", + "synonyms": [ + "Cancer penis", + "Carcinoma of the penis", + "Penile carcinoma" + ] + }, + { + "gard_id": "GARD:0009369", + "name": "Pineoblastoma", + "synonyms": null + }, + { + "gard_id": "GARD:0009371", + "name": "Pituitary cancer", + "synonyms": [ + "Pituitary carcinoma" + ] + }, + { + "gard_id": "GARD:0009373", + "name": "Plasma cell leukemia", + "synonyms": [ + "Leukemia, plasma cell" + ] + }, + { + "gard_id": "GARD:0009376", + "name": "Transitional cell cancer of the renal pelvis and ureter", + "synonyms": [ + "Renal pelvis and ureter, transitional cell cancer" + ] + }, + { + "gard_id": "GARD:0009377", + "name": "Salivary gland cancer, adult", + "synonyms": null + }, + { + "gard_id": "GARD:0009383", + "name": "Uterine sarcoma", + "synonyms": [ + "Sarcoma of the uterus" + ] + }, + { + "gard_id": "GARD:0009384", + "name": "Metastatic squamous neck cancer with occult primary", + "synonyms": null + }, + { + "gard_id": "GARD:0009385", + "name": "Small intestine cancer", + "synonyms": [ + "Malignant neoplasms of the small intestine", + "Small bowel tumors" + ] + }, + { + "gard_id": "GARD:0009390", + "name": "Urethral cancer", + "synonyms": null + }, + { + "gard_id": "GARD:0009394", + "name": "Acute cholinergic dysautonomia", + "synonyms": [ + "ACD" + ] + }, + { + "gard_id": "GARD:0009396", + "name": "Fibrolamellar carcinoma", + "synonyms": [ + "Fibrolamellar hepatocellular carcinoma", + "Eosinophilic hepatocellular carcinoma with lamellar fibrosis", + "Polygonal cell hepatocellular carcinoma with fibrous stroma", + "Hepatocellular carcinoma with increased stromal fibrosis", + "Eosinophilic glassy cell hepatoma", + "Fibrolamellar oncocytic hepatoma", + "FL-HCC", + "FHCC", + "Fibrolamellar hepatocarcinoma" + ] + }, + { + "gard_id": "GARD:0009397", + "name": "Brenner tumor of ovary", + "synonyms": [ + "Ovarian Brenner tumor" + ] + }, + { + "gard_id": "GARD:0009398", + "name": "Sarcoma botryoides", + "synonyms": null + }, + { + "gard_id": "GARD:0009400", + "name": "Broken heart syndrome", + "synonyms": [ + "Transient antero-apical dyskinesia", + "Tako-tsubo cardiomyopathy", + "Tako-tsubo syndrome", + "Tako tsubo syndrome", + "Left ventricular transient apical ballooning", + "Stress-induced cardiomyopathy", + "Apical ballooning syndrome", + "Broken-heart syndrome", + "Acute stress cardiomyopathy", + "ASC", + "Stress cardiomyopathy" + ] + }, + { + "gard_id": "GARD:0009401", + "name": "Eagle syndrome", + "synonyms": [ + "Elongated styloid process which causes cervico facial pain tinnitus and otalgia", + "Elongated styloid process syndrome", + "Styloid-stylohyoid syndrome", + "Eagle's syndrome" + ] + }, + { + "gard_id": "GARD:0009404", + "name": "Phyllodes tumor of the prostate", + "synonyms": [ + "Malignant phyllodes tumor of prostate (subtype)" + ] + }, + { + "gard_id": "GARD:0009405", + "name": "Prostatic stromal proliferation of uncertain malignant potential", + "synonyms": [ + "PSPUMP" + ] + }, + { + "gard_id": "GARD:0009408", + "name": "Secretory breast carcinoma", + "synonyms": [ + "SBC", + "Juvenile breast carcinoma (formerly)", + "Juvenile breast cancer (formerly)", + "Secretory carcinoma of the breast" + ] + }, + { + "gard_id": "GARD:0009412", + "name": "X-linked cerebral adrenoleukodystrophy", + "synonyms": [ + "Adrenoleukodystrophy childhood cerebral form", + "ALD childhood cerebral form", + "Childhood cerebral ALD", + "Adrenoleukodystrophy X-linked cerebral form", + "X-CALD" + ] + }, + { + "gard_id": "GARD:0009415", + "name": "Paraneoplastic Neurologic Disorders", + "synonyms": [ + "PND" + ] + }, + { + "gard_id": "GARD:0009417", + "name": "Meralgia paresthetica", + "synonyms": [ + "Bernhardt-Roth syndrome", + "Lateral femoral cutaneous nerve entrapment", + "Meralgia paraesthetica familial (type)" + ] + }, + { + "gard_id": "GARD:0009418", + "name": "Cochleosaccular degeneration of the inner ear and progressive cataracts", + "synonyms": null + }, + { + "gard_id": "GARD:0009419", + "name": "Rokitansky-Aschoff sinuses of the gallbladder", + "synonyms": [ + "Rokitansky-Aschoff sinuses", + "Intramural diverticulosis of the gallbladder" + ] + }, + { + "gard_id": "GARD:0009420", + "name": "Pierson syndrome", + "synonyms": [ + "Microcoria - congenital nephrotic syndrome", + "Microcoria - congenital nephrosis" + ] + }, + { + "gard_id": "GARD:0009421", + "name": "Halo nevus", + "synonyms": [ + "Leukoderma acquisitum centrifugum of Sutton" + ] + }, + { + "gard_id": "GARD:0009422", + "name": "Melanocytic lesions of CNS", + "synonyms": null + }, + { + "gard_id": "GARD:0009423", + "name": "Familial capillaro-venous leptomeningeal angiomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0009428", + "name": "Hurthle cell thyroid cancer", + "synonyms": [ + "Thyroid carcinoma, Hurthle cell", + "Thyroid cancer, follicular, Hurthle cell type", + "Follicular thyroid cancer, Hurthle cell type", + "Hurthle cell carcinoma of the thyroid", + "Thyroid cancer, Hurthle cell" + ] + }, + { + "gard_id": "GARD:0009429", + "name": "Rhizomelic chondrodysplasia punctata type 2", + "synonyms": [ + "RCDP2", + "Dihydroxyacetonephosphate acyltransferase deficiency", + "DHAPAT deficiency", + "Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency", + "Type 2 rhizomelic chondrodysplasia punctata", + "Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate" + ] + }, + { + "gard_id": "GARD:0009430", + "name": "Congenital thrombotic thrombocytopenic purpura", + "synonyms": [ + "TTP, congenital", + "Thrombotic thrombocytopenic purpura, familial", + "Microangiopathic hemolytic anemia", + "Upshaw-Schulman syndrome", + "USS", + "Schulman-Upshaw syndrome", + "Upshaw factor, deficiency of", + "Microangiopathic hemolytic anemia, congenital", + "Thrombotic microangiopathy, familial", + "Thrombotic thrombocytopenic purpura, congenital" + ] + }, + { + "gard_id": "GARD:0009432", + "name": "Hemolytic uremic syndrome, atypical, childhood", + "synonyms": [ + "Atypical childhood HUS" + ] + }, + { + "gard_id": "GARD:0009433", + "name": "Organic acidemias", + "synonyms": [ + "Organic acidurias", + "Inherited organic acidemia" + ] + }, + { + "gard_id": "GARD:0009434", + "name": "Sudden Arrhythmia Death Syndrome", + "synonyms": [ + "SADS", + "Sudden arrhythmic death syndrome" + ] + }, + { + "gard_id": "GARD:0009435", + "name": "Hermansky Pudlak syndrome 2", + "synonyms": [ + "HPS2", + "Hermansky-Pudlak syndrome 2", + "Platelet defects and oculocutaneous albinism" + ] + }, + { + "gard_id": "GARD:0009439", + "name": "Vulvar Vestibulitis Syndrome", + "synonyms": [ + "VVS", + "Vulvar dysesthesia localized in the vestibule" + ] + }, + { + "gard_id": "GARD:0009441", + "name": "Temple-Baraitser syndrome", + "synonyms": [ + "Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome", + "TMBTS" + ] + }, + { + "gard_id": "GARD:0009442", + "name": "Glycogen storage disease type 3", + "synonyms": [ + "Forbes disease", + "Cori disease", + "Limit dextrinosis", + "Amylo-1,6-glucosidase deficiency", + "Glycogen debrancher deficiency" + ] + }, + { + "gard_id": "GARD:0009443", + "name": "Severe achondroplasia with developmental delay and acanthosis nigricans", + "synonyms": [ + "SADDAN dysplasia", + "Skeleton skin brain syndrome", + "Severe achondroplasia with developmental delay and acanthosis nigricans", + "SSB syndrome", + "SADDAN", + "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome" + ] + }, + { + "gard_id": "GARD:0009444", + "name": "Marburg hemorrhagic fever", + "synonyms": [ + "Marburg virus disease", + "Marburg disease" + ] + }, + { + "gard_id": "GARD:0009445", + "name": "Reactive angioendotheliomatosis", + "synonyms": [ + "RAE" + ] + }, + { + "gard_id": "GARD:0009447", + "name": "Infantile neuronal ceroid lipofuscinosis", + "synonyms": [ + "Lipofuscin storage disease", + "Hagberg-Santavuori disease", + "INCL", + "Infantile NCL", + "Santavuori disease", + "Santavuori-Haltia disease" + ] + }, + { + "gard_id": "GARD:0009448", + "name": "Familial streblodactyly", + "synonyms": [ + "Crooked little finger, familial", + "Minor streblomicrodactyly, familial" + ] + }, + { + "gard_id": "GARD:0009449", + "name": "Waterhouse–Friderichsen syndrome", + "synonyms": [ + "Fatal pneumococcal Waterhouse-Friderichsen syndrome", + "Waterhouse-Friderichsen syndrome" + ] + }, + { + "gard_id": "GARD:0009450", + "name": "Gigantomastia", + "synonyms": [ + "Macromastia", + "Gestational gigantomastia (subtype)", + "Pregnancy-induced gigantomastia (subtype)", + "Idiopathic gigantomastia (subtype)", + "Puberty-induced gigantomastia (subtype)", + "Juvenile gigantomastia (subtype)", + "Drug-induced gigantomastia (subtype)", + "Medication-induced gigantomastia (subtype)" + ] + }, + { + "gard_id": "GARD:0009451", + "name": "Xanthogranulomatous cholecystitis", + "synonyms": [ + "CX" + ] + }, + { + "gard_id": "GARD:0009452", + "name": "Pilomatrixoma", + "synonyms": [ + "Pilomatricoma", + "PTR", + "Calcifying epithelioma of Malherbe" + ] + }, + { + "gard_id": "GARD:0009453", + "name": "Andersen-Tawil syndrome", + "synonyms": [ + "Long QT syndrome 7", + "LQT7", + "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features", + "Andersen cardiodysrhythmic periodic paralysis", + "Periodic paralysis, potassium-sensitive cardiodysrhythmic type" + ] + }, + { + "gard_id": "GARD:0009455", + "name": "Joubert syndrome with oculorenal anomalies", + "synonyms": [ + "Arima syndrome", + "Cerebro-oculo-hepato-renal syndrome", + "Dekaban Arima syndrome", + "Chorioretinal coloboma with cerebellar vermis aplasia", + "Joubert syndrome 5", + "Joubert syndrome with bilateral chorioretinal coloboma", + "Cerebello-oculo-renal syndrome", + "CORS", + "Dekaban-Arima syndrome", + "Joubert syndrome with oculorenal defect", + "Joubert syndrome with Senior-Loken syndrome", + "JS type B", + "JS-OR", + "Cerebellooculorenal syndrome" + ] + }, + { + "gard_id": "GARD:0009456", + "name": "X-linked sideroblastic anemia", + "synonyms": [ + "Sideroblastic anemia X-linked", + "XLSA", + "Anemia sex-linked hypochromic sideroblastic", + "ANH1", + "Congenital sideroblastic anemia", + "Erythroid 5-aminolevulinate synthase deficiency", + "Hereditary iron-loading anemia", + "X chromosome-linked sideroblastic anemia", + "Anemia hereditary sideroblastic" + ] + }, + { + "gard_id": "GARD:0009457", + "name": "Polycystic liver disease", + "synonyms": [ + "Isolated polycystic liver disease", + "Isolated autosomal dominant polycystic liver disease", + "PCLD" + ] + }, + { + "gard_id": "GARD:0009458", + "name": "Loeys-Dietz syndrome type 1", + "synonyms": [ + "Loeys-Dietz syndrome 1" + ] + }, + { + "gard_id": "GARD:0009460", + "name": "Ovarian insufficiency, familial", + "synonyms": null + }, + { + "gard_id": "GARD:0009461", + "name": "Autoimmune oophoritis", + "synonyms": null + }, + { + "gard_id": "GARD:0009462", + "name": "Microspherophakia with hernia", + "synonyms": null + }, + { + "gard_id": "GARD:0009463", + "name": "Pseudodiastrophic dysplasia", + "synonyms": [ + "Pseudodiastrophic dwarfism" + ] + }, + { + "gard_id": "GARD:0009465", + "name": "Alzheimer disease type 1", + "synonyms": [ + "AD1", + "Alzheimer disease 1", + "Early-onset familial form of Alzheimer disease" + ] + }, + { + "gard_id": "GARD:0009467", + "name": "Alzheimer disease type 2", + "synonyms": [ + "AD2", + "Alzheimer disease associated with APOE E4", + "Late onset Alzheimer disease", + "Late onset familial Alzheimer disease", + "LOFAD" + ] + }, + { + "gard_id": "GARD:0009468", + "name": "Alzheimer disease type 3", + "synonyms": [ + "AD3", + "Alzheimer disease early onset type 3", + "Alzheimer disease 3" + ] + }, + { + "gard_id": "GARD:0009469", + "name": "Alzheimer disease type 4", + "synonyms": [ + "Alzheimer disease familial type 4", + "AD4", + "Alzheimer disease 4" + ] + }, + { + "gard_id": "GARD:0009470", + "name": "Amyotrophic lateral sclerosis type 2", + "synonyms": [ + "ALS2" + ] + }, + { + "gard_id": "GARD:0009472", + "name": "Anaplastic oligodendroglioma", + "synonyms": null + }, + { + "gard_id": "GARD:0009473", + "name": "Peroxisomal biogenesis disorders ", + "synonyms": [ + "Disorders of peroxisome biogenesis" + ] + }, + { + "gard_id": "GARD:0009474", + "name": "Melorheostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0009475", + "name": "Dysautonomia like disorder", + "synonyms": null + }, + { + "gard_id": "GARD:0009476", + "name": "Impairment of oral perception", + "synonyms": [ + "Disturbance of oral sensitivity" + ] + }, + { + "gard_id": "GARD:0009477", + "name": "Anaplastic small cell lymphoma", + "synonyms": [ + "Small cell variant of anaplastic large cell lymphoma" + ] + }, + { + "gard_id": "GARD:0009478", + "name": "Supraglottic laryngeal cancer", + "synonyms": [ + "Cancers of the supraglottic larynx region", + "Supraglottic laryngeal carcinoma" + ] + }, + { + "gard_id": "GARD:0009479", + "name": "Methylmalonic aciduria, cblB type", + "synonyms": [ + "Methylmalonic acidemia cblB type", + "Vitamin B12-responsive methylmalonic aciduria, type cblB", + "Vitamin B12-responsive methylmalonic acidemia type cblB", + "METHYLMALONIC ACIDURIA, cblB TYPE", + "METHYLMALONIC ACIDEMIA, cblB TYPE", + "METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE", + "Methylmalonic aciduria cblB type" + ] + }, + { + "gard_id": "GARD:0009480", + "name": "Familial dermographism", + "synonyms": [ + "Dermo-distortive urticaria", + "Familial dermatographism", + "Dermographism", + "Dermatographia" + ] + }, + { + "gard_id": "GARD:0009481", + "name": "Polycystic kidneys, severe infantile with tuberous sclerosis", + "synonyms": [ + "PKDTS", + "Tuberous sclerosis polycystic kidney disease contiguous gene syndrome" + ] + }, + { + "gard_id": "GARD:0009482", + "name": "Sixth nerve palsy", + "synonyms": [ + "Cranial mononeuropathy VI", + "Abducens nerve palsy", + "Sixth cranial nerve palsy", + "VI nerve palsy", + "6th nerve palsy", + "Cranial nerve VI palsy" + ] + }, + { + "gard_id": "GARD:0009484", + "name": "Superficial siderosis of the central nervous system", + "synonyms": null + }, + { + "gard_id": "GARD:0009485", + "name": "Primary open angle glaucoma juvenile onset 1", + "synonyms": [ + "JOAG1", + "Glaucoma 1, open angle, A", + "GLC1A", + "Glaucoma hereditary, juvenile" + ] + }, + { + "gard_id": "GARD:0009486", + "name": "Congenital anosmia", + "synonyms": [ + "Isolated congenital anosmia", + "ANIC" + ] + }, + { + "gard_id": "GARD:0009487", + "name": "Cyprus facial neuromusculoskeletal syndrome", + "synonyms": [ + "Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" + ] + }, + { + "gard_id": "GARD:0009488", + "name": "Van Buchem disease type 2", + "synonyms": [ + "VBCH2", + "Osteosclerosis of the skull and enlarged mandible" + ] + }, + { + "gard_id": "GARD:0009489", + "name": "Absent breasts and nipples", + "synonyms": [ + "Amastia", + "Complete absence of breasts" + ] + }, + { + "gard_id": "GARD:0009490", + "name": "Flat umbilicus familial", + "synonyms": [ + "Flat umbilicus autosomal dominant" + ] + }, + { + "gard_id": "GARD:0009491", + "name": "Leber congenital amaurosis 9", + "synonyms": [ + "LCA9", + "Amaurosis congenita of Leber, type 9", + "Leber congenital amaurosis type 9" + ] + }, + { + "gard_id": "GARD:0009492", + "name": "Autosomal recessive nonsyndromic congenital nuclear cataract", + "synonyms": [ + "Congenital nuclear cataract, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0009493", + "name": "Inclusion body myopathy 2", + "synonyms": [ + "IBM2", + "Inclusion body myopathy, autosomal recessive", + "Inclusion body myopathy, quadriceps-sparing", + "QSM", + "Hereditary inclusion body myopathy", + "HIBM", + "Distal myopathy with rimmed vacuoles", + "DMRV", + "Nonaka myopathy", + "Rimmed vacuole myopathy", + "Quadriceps Sparing Myopathy", + "GNE myopathy" + ] + }, + { + "gard_id": "GARD:0009494", + "name": "Inclusion body myopathy 3", + "synonyms": [ + "IBM3", + "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles", + "Inclusion body myopathy autosomal dominant", + "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia", + "Hereditary inclusion body myopathy type 3", + "HIBM3" + ] + }, + { + "gard_id": "GARD:0009495", + "name": "Amelogenesis imperfecta pigmented hypomaturation type", + "synonyms": null + }, + { + "gard_id": "GARD:0009496", + "name": "Renal hypouricemia", + "synonyms": [ + "Dalmatian hypouricemia", + "Hypouricemia, renal" + ] + }, + { + "gard_id": "GARD:0009499", + "name": "Aceruloplasminemia", + "synonyms": [ + "Ceruloplasmin deficiency", + "Familial apoceruloplasmin deficiency", + "Hereditary ceruloplasmin deficiency", + "Hypoceruloplasminemia", + "Systemic hemosiderosis due to aceruloplasminemia" + ] + }, + { + "gard_id": "GARD:0009500", + "name": "Tremor hereditary essential, 2", + "synonyms": [ + "ETM2" + ] + }, + { + "gard_id": "GARD:0009501", + "name": "Hereditary geniospasm", + "synonyms": [ + "Trembling chin", + "GSM 1", + "Hereditary chin tremor/myoclonus", + "Geniospasm" + ] + }, + { + "gard_id": "GARD:0009502", + "name": "Familial neurocardiogenic syncope", + "synonyms": [ + "Familial vasovagal syncope", + "Syncope familial neurocardiogenic" + ] + }, + { + "gard_id": "GARD:0009504", + "name": "Porokeratosis, disseminated superficial actinic 2", + "synonyms": [ + "Disseminated superficial actinic porokeratosis 2", + "DSAP2" + ] + }, + { + "gard_id": "GARD:0009505", + "name": "Porokeratosis, disseminated superficial actinic 1", + "synonyms": [ + "DSAP1" + ] + }, + { + "gard_id": "GARD:0009506", + "name": "Craniosynostosis, anal anomalies, and porokeratosis", + "synonyms": [ + "Craniosynostosis and clavicular hypoplasia, Delayed closure of the fontanel, Anal anomalies and Genitourinary malformations", + "CDAGS syndrome" + ] + }, + { + "gard_id": "GARD:0009507", + "name": "Cornea guttata with anterior polar cataract", + "synonyms": [ + "Familial congenital cornea guttata with anterior polar cataracts (type)" + ] + }, + { + "gard_id": "GARD:0009508", + "name": "Cerulean cataract", + "synonyms": [ + "Cataract, congenital, cerulean type 1", + "CCA1", + "Cataract, congenital, blue dot type 1" + ] + }, + { + "gard_id": "GARD:0009509", + "name": "Renpenning syndrome", + "synonyms": [ + "Sutherland-Haan X-linked intellectual disability syndrome", + "X-linked intellectual disability with spastic diplegia", + "MRXS3", + "MRXS8", + "Sutherland-Haan syndrome", + "X-linked intellectual disability due to PQBP1 mutations" + ] + }, + { + "gard_id": "GARD:0009511", + "name": "Infantile histiocytoid cardiomyopathy", + "synonyms": [ + "Infantile xanthomatous cardiomyopathy", + "Focal lipid cardiomyopathy", + "Oncocytic cardiomyopathy", + "Foamy myocardial transformation of infancy", + "Histiocytoid cardiomyopathy" + ] + }, + { + "gard_id": "GARD:0009512", + "name": "Ainhum", + "synonyms": [ + "Spontaneous dactylolysis" + ] + }, + { + "gard_id": "GARD:0009513", + "name": "Linear scleroderma", + "synonyms": [ + "Scleroderma, linear", + "En coup de sabre" + ] + }, + { + "gard_id": "GARD:0009514", + "name": "Phyllodes tumor of the breast", + "synonyms": [ + "Phyllodes breast tumor", + "Cystosarcoma phyllodes", + "Phylloides tumor", + "Cystosarcoma phyllodes of the breast" + ] + }, + { + "gard_id": "GARD:0009515", + "name": "Linear porokeratosis", + "synonyms": [ + "Congenital facial linear porokeratosis (type)" + ] + }, + { + "gard_id": "GARD:0009516", + "name": "Febrile Ulceronecrotic Mucha-Habermann disease", + "synonyms": [ + "FUMHD", + "Ulceronecrotic Mucha-Habermann disease", + "Variant of Mucha-Habermann disease" + ] + }, + { + "gard_id": "GARD:0009517", + "name": "Multicystic renal dysplasia, bilateral", + "synonyms": [ + "MRD", + "Pelvi-ureteric junction obstruction", + "PUJO", + "Hydronephrosis due to PUJO" + ] + }, + { + "gard_id": "GARD:0009519", + "name": "Autoimmune myocarditis", + "synonyms": null + }, + { + "gard_id": "GARD:0009520", + "name": "Buruli ulcer", + "synonyms": [ + "Buruli ulcer disease", + "BUD" + ] + }, + { + "gard_id": "GARD:0009521", + "name": "CD3 deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0009522", + "name": "Chancroid", + "synonyms": null + }, + { + "gard_id": "GARD:0009523", + "name": "CD4 deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0009525", + "name": "Coccidioidomycosis", + "synonyms": [ + "Coccidiosis", + "San Joaquin fever", + "Valley fever", + "Coccidioides immitis infection" + ] + }, + { + "gard_id": "GARD:0009526", + "name": "Complement component deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0009527", + "name": "Complement receptor deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0009528", + "name": "Cyclosporiasis", + "synonyms": [ + "Cyclospora infection", + "Cyclosporosis" + ] + }, + { + "gard_id": "GARD:0009529", + "name": "Cytokine deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0009530", + "name": "Cytokine receptor deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0009531", + "name": "Cytomegalovirus retinitis", + "synonyms": null + }, + { + "gard_id": "GARD:0009532", + "name": "Granuloma Inguinale", + "synonyms": [ + "Donovanosis" + ] + }, + { + "gard_id": "GARD:0009534", + "name": "Chronic active Epstein-Barr virus infection", + "synonyms": [ + "CEBV", + "CAEBV infection", + "Chronic active Epstein-Barr disease" + ] + }, + { + "gard_id": "GARD:0009535", + "name": "Familial cold autoinflammatory syndrome", + "synonyms": [ + "FCAS", + "Familial polymorphous cold eruption", + "Familial cold urticaria" + ] + }, + { + "gard_id": "GARD:0009536", + "name": "Glanders", + "synonyms": [ + "Burkholderia mallei", + "Burkholderia mallei infection" + ] + }, + { + "gard_id": "GARD:0009537", + "name": "Haemophilus influenzae", + "synonyms": [ + "H. influenzae", + "Hemophilus influenzae" + ] + }, + { + "gard_id": "GARD:0009541", + "name": "Hepatitis E", + "synonyms": null + }, + { + "gard_id": "GARD:0009542", + "name": "Herpes simiae (B virus)", + "synonyms": [ + "B virus", + "Monkey B virus" + ] + }, + { + "gard_id": "GARD:0009545", + "name": "Lymphogranuloma venereum", + "synonyms": [ + "LGV" + ] + }, + { + "gard_id": "GARD:0009546", + "name": "Melioidosis", + "synonyms": [ + "Burkholderia pseudomallei infection", + "B pseudomallei infection", + "Whitmore disease", + "Nightcliff gardener's disease" + ] + }, + { + "gard_id": "GARD:0009547", + "name": "Meningococcal infection", + "synonyms": null + }, + { + "gard_id": "GARD:0009548", + "name": "MHC class 1 deficiency", + "synonyms": [ + "Major histocompatibility complex class 1 deficiency" + ] + }, + { + "gard_id": "GARD:0009550", + "name": "Variant Creutzfeldt-Jakob disease", + "synonyms": [ + "Variant Creutzfeldt-Jacob disease", + "VCJD", + "Variant CJD", + "New variant of CJD", + "Nv-CJD" + ] + }, + { + "gard_id": "GARD:0009551", + "name": "Bronchiolitis obliterans", + "synonyms": [ + "Obliterative bronchiolitis" + ] + }, + { + "gard_id": "GARD:0009552", + "name": "Polyomavirus allograft nephropathy", + "synonyms": [ + "Polyomavirus-related transplant nephropathy", + "BKVN" + ] + }, + { + "gard_id": "GARD:0009553", + "name": "Post-transplant lymphoproliferative disease", + "synonyms": [ + "PTLD", + "Post-transplant lymphoproliferative disorder" + ] + }, + { + "gard_id": "GARD:0009554", + "name": "Primary amebic meningoencephalitis", + "synonyms": [ + "PAM", + "Meningoencephalitis caused by Naegleria fowleri", + "Primary amoebic meningoencephalitis" + ] + }, + { + "gard_id": "GARD:0009557", + "name": "Rat bite fever", + "synonyms": null + }, + { + "gard_id": "GARD:0009558", + "name": "Severe congenital neutropenia autosomal dominant", + "synonyms": [ + "Autosomal dominant severe congenital neutropenia" + ] + }, + { + "gard_id": "GARD:0009559", + "name": "Staphylococcal food poisoning", + "synonyms": null + }, + { + "gard_id": "GARD:0009560", + "name": "Staphylococcal toxic shock syndrome", + "synonyms": [ + "Bacterial toxic-shock syndrome" + ] + }, + { + "gard_id": "GARD:0009561", + "name": "Streptococcal Group A invasive disease", + "synonyms": [ + "Group A Streptococcal disease", + "GAS", + "Group A Streptococcal infection" + ] + }, + { + "gard_id": "GARD:0009563", + "name": "Neonatal systemic lupus erythematosus", + "synonyms": [ + "Neonatal SLE", + "Neonatal lupus syndrome", + "Neonatal lupus", + "Congenital lupus erythematosus", + "Congenital lupus" + ] + }, + { + "gard_id": "GARD:0009564", + "name": "Typhoid fever", + "synonyms": [ + "Typhoid", + "Enteric fever" + ] + }, + { + "gard_id": "GARD:0009568", + "name": "Retroperitoneal fibrosis", + "synonyms": [ + "Idiopathic retroperitoneal fibrosis", + "Ormond's disease", + "IgG4-related retroperitoneal fibrosis", + "Ormond disease" + ] + }, + { + "gard_id": "GARD:0009569", + "name": "Dermatofibrosarcoma protuberans", + "synonyms": [ + "DFSP", + "Giant cell fibroblastoma", + "Familial dermatofibrosarcoma protuberans (subtype)", + "Metastatic dermatofibrosarcoma protuberans (subtype)" + ] + }, + { + "gard_id": "GARD:0009570", + "name": "Acral lentiginous melanoma", + "synonyms": [ + "ALM", + "Subungual melanoma", + "Palmar/plantar melanoma", + "Acral lentiginous malignant melanoma of skin" + ] + }, + { + "gard_id": "GARD:0009571", + "name": "Hereditary renal cell carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0009572", + "name": "Papillary renal cell carcinoma", + "synonyms": [ + "RCCP", + "Renal adenocarcinoma", + "Papillary renal cell carcinoma, sporadic - (subtype)", + "Papillary renal cell carcinoma, bilateral - (subtype)", + "Papillary renal cell carcinoma, multiple - (subtype)", + "Papillary renal cell carcinoma, familial - (subtype)", + "Papillary renal carcinoma, malignant - (subtype)", + "Papillary renal cell adenocarcinoma" + ] + }, + { + "gard_id": "GARD:0009573", + "name": "Collecting duct carcinoma", + "synonyms": [ + "CDC", + "Collecting duct carcinoma of the kidney", + "Renal collecting duct carcinoma", + "Bellini’s duct carcinoma", + "BDC", + "Bellini carcinoma", + "Bellini duct carcinoma" + ] + }, + { + "gard_id": "GARD:0009574", + "name": "Clear cell renal cell carcinoma", + "synonyms": [ + "Clear cell RCC", + "Cystic-multilocular variant", + "Clear-cell metastatic renal cell carcinoma (subtype)" + ] + }, + { + "gard_id": "GARD:0009575", + "name": "Chromophil renal cell carcinoma", + "synonyms": [ + "Chromophil RCC" + ] + }, + { + "gard_id": "GARD:0009578", + "name": "Acute fatty liver of pregnancy", + "synonyms": [ + "AFLP", + "Acute fatty liver, gestational" + ] + }, + { + "gard_id": "GARD:0009579", + "name": "Human spumaretrovirus infection", + "synonyms": [ + "HSRV infection", + "Human spumaretroviridae infection" + ] + }, + { + "gard_id": "GARD:0009580", + "name": "Mesangial proliferative glomerulonephritis", + "synonyms": [ + "Glomerulonephritis - mesangial proliferative", + "Mesangial proliferative GN", + "Mesangioproliferative glomerulonephritis" + ] + }, + { + "gard_id": "GARD:0009581", + "name": "Spastic paraplegia 15", + "synonyms": [ + "SPG15", + "Spastic paraplegia and retinal degeneration", + "Kjellin syndrome", + "Recessive spastic paraplegia with retinal degeneration" + ] + }, + { + "gard_id": "GARD:0009582", + "name": "Spastic paraplegia 25", + "synonyms": [ + "SPG25", + "Spinal disc herniation with autosomal recessive spastic paraplegia" + ] + }, + { + "gard_id": "GARD:0009583", + "name": "Spastic paraplegia 9", + "synonyms": [ + "SPG9", + "Autosomal dominant spastic paraparesis", + "Cataracts, motor neuronopathy, short stature and skeletal abnormalities", + "Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" + ] + }, + { + "gard_id": "GARD:0009584", + "name": "Vibrio vulnificus infection", + "synonyms": null + }, + { + "gard_id": "GARD:0009585", + "name": "Spastic paraplegia 16", + "synonyms": [ + "SPG16" + ] + }, + { + "gard_id": "GARD:0009586", + "name": "Spastic paraplegia 12", + "synonyms": [ + "SPG12" + ] + }, + { + "gard_id": "GARD:0009587", + "name": "Spastic paraplegia 26", + "synonyms": [ + "SPG26" + ] + }, + { + "gard_id": "GARD:0009588", + "name": "Spastic paraplegia 19", + "synonyms": [ + "SPG19" + ] + }, + { + "gard_id": "GARD:0009589", + "name": "Spastic paraplegia 14", + "synonyms": [ + "SPG14" + ] + }, + { + "gard_id": "GARD:0009590", + "name": "Spastic paraplegia 10", + "synonyms": [ + "SPG10", + "Autosomal dominant spastic paraplegia" + ] + }, + { + "gard_id": "GARD:0009591", + "name": "Spastic paraplegia 8", + "synonyms": [ + "SPG8" + ] + }, + { + "gard_id": "GARD:0009593", + "name": "Familial hypersecretion of adrenal androgens", + "synonyms": [ + "Hypersecretion of adrenal androgens, familial" + ] + }, + { + "gard_id": "GARD:0009595", + "name": "Atransferrinemia", + "synonyms": [ + "Familial hypotransferrinemia" + ] + }, + { + "gard_id": "GARD:0009596", + "name": "Acquired amegakaryocytic thrombocytopenia", + "synonyms": [ + "Severe thrombocytopenia and selective, marked decrease or absence of megakaryocytes", + "AAT", + "Acquired pure megakaryocytic aplasia" + ] + }, + { + "gard_id": "GARD:0009598", + "name": "Idiopathic basal ganglia calcification childhood-onset", + "synonyms": [ + "IBGC childhood onset", + "Bilateral striopallidodentate calcinosis childhood-onset", + "Cerebral calcification nonarteriosclerotic idiopathic childhood-onset" + ] + }, + { + "gard_id": "GARD:0009599", + "name": "Nystagmus 2, congenital, autosomal dominant", + "synonyms": [ + "NYS2", + "Nystagmus congenital, motor 2" + ] + }, + { + "gard_id": "GARD:0009600", + "name": "Nystagmus 3, congenital, autosomal dominant", + "synonyms": [ + "NYS3" + ] + }, + { + "gard_id": "GARD:0009601", + "name": "Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response", + "synonyms": null + }, + { + "gard_id": "GARD:0009602", + "name": "Episodic ataxia with nystagmus", + "synonyms": [ + "Nystagmus-associated episodic ataxia", + "Episodic ataxia type 2", + "EA2", + "Cerebellopathy, hereditary paroxysmal", + "Ataxia, familial, paroxysmal", + "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", + "APCA", + "Acetazolamide-responsive episodic ataxia syndrome", + "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", + "CAPA" + ] + }, + { + "gard_id": "GARD:0009603", + "name": "Nystagmus 4, congenital, autosomal dominant", + "synonyms": [ + "NYS4", + "Vestibulocerebellar disorder with predominant ocular signs" + ] + }, + { + "gard_id": "GARD:0009604", + "name": "Nystagmus, hereditary vertical", + "synonyms": [ + "Hereditary vertical nystagmus", + "Congenital hereditary vertical nystagmus" + ] + }, + { + "gard_id": "GARD:0009605", + "name": "Nystagmus, myoclonic", + "synonyms": [ + "Myoclonic nystagmus" + ] + }, + { + "gard_id": "GARD:0009606", + "name": "Chorea, remitting with nystagmus and cataracts", + "synonyms": [ + "Familial remitting chorea, nystagmus and cataracts" + ] + }, + { + "gard_id": "GARD:0009609", + "name": "Nystagmus, congenital motor, autosomal recessive", + "synonyms": null + }, + { + "gard_id": "GARD:0009610", + "name": "Microphthalmia with cataract 1", + "synonyms": [ + "Congenital cataract with microphthalmia" + ] + }, + { + "gard_id": "GARD:0009611", + "name": "Spinocerebellar ataxia 13", + "synonyms": [ + "SCA13", + "Spinocerebellar ataxia type 13", + "Cerebellar ataxia, autosomal dominant with mental retardation", + "Autosomal dominant cerebellar ataxia with mental retardation" + ] + }, + { + "gard_id": "GARD:0009612", + "name": "Rud Syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0009615", + "name": "Giant cell arteritis", + "synonyms": [ + "GCA", + "Temporal arteritis", + "Cranial arteritis", + "Horton’s disease", + "Horton's arteritis", + "Horton's giant cell arteritis", + "Horton’s syndrome", + "Horton's temporal arteritis", + "Arteritis temporalis", + "Arteritis cranialis" + ] + }, + { + "gard_id": "GARD:0009616", + "name": "Spastic paraplegia 13", + "synonyms": [ + "SPG13" + ] + }, + { + "gard_id": "GARD:0009617", + "name": "Desmoplastic infantile astrocytoma", + "synonyms": [ + "DIA" + ] + }, + { + "gard_id": "GARD:0009618", + "name": "Granular cell tumor", + "synonyms": [ + "Giant granulocellular Abrikosov's tumor", + "Malignant variant of Abrikosov's tumor", + "Abrikosoff's granulous cell tumor", + "Abrikosoff's tumor", + "Abrikosov’s tumor" + ] + }, + { + "gard_id": "GARD:0009619", + "name": "Actinic cheilitis", + "synonyms": [ + "Actinic cheilosis" + ] + }, + { + "gard_id": "GARD:0009620", + "name": "Acute erythroid leukemia", + "synonyms": [ + "AML-M6", + "Acute erythroleukemia M6b subtype", + "Acute erythroleukemia M6a subtype", + "Acute myeloid leukemia FAB-M6", + "Acute erythroleukemia", + "Di Guglielmo syndrome", + "Acute myeloid leukemia M6", + "AML M6", + "Erythroleukemia" + ] + }, + { + "gard_id": "GARD:0009621", + "name": "Polyembryoma", + "synonyms": [ + "Gonadal polyembryoma" + ] + }, + { + "gard_id": "GARD:0009622", + "name": "Polymorphic reticulosis", + "synonyms": [ + "PR", + "NK-cell malignancy" + ] + }, + { + "gard_id": "GARD:0009624", + "name": "Bednar tumor", + "synonyms": [ + "Pigmented dermatofibrosarcoma protuberans" + ] + }, + { + "gard_id": "GARD:0009625", + "name": "Rheumatoid nodulosis", + "synonyms": null + }, + { + "gard_id": "GARD:0009628", + "name": "Rapid-onset dystonia-parkinsonism", + "synonyms": [ + "DYT12", + "RDP", + "DYT-ATP1A3", + "Dystonia 12" + ] + }, + { + "gard_id": "GARD:0009630", + "name": "DYT-THAP1", + "synonyms": [ + "DYT6", + "Torsion dystonia adult onset mixed type", + "Dystonia 6", + "Adolescent-onset dystonia of mixed type" + ] + }, + { + "gard_id": "GARD:0009632", + "name": "POLR3-Related Leukodystrophy", + "synonyms": [ + "Pol III-related leukodystrophy", + "Pol III disorder", + "Pol III-related hypomyelinating leukodystrophies", + "Ribonucleic acid polymerase III-related leukodystrophy", + "Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism", + "4H syndrome", + "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome" + ] + }, + { + "gard_id": "GARD:0009633", + "name": "Pseudoinflammatory fundus dystrophy", + "synonyms": [ + "Fundus dystrophy, pseudoinflammatory recessive form", + "PFD Lavia type", + "PFD, Finnish type" + ] + }, + { + "gard_id": "GARD:0009634", + "name": "Fetal akinesia deformation sequence", + "synonyms": [ + "FADS", + "Fetal akinesia sequence", + "Pena-Shokeir syndrome, type 1", + "Arthrogryposis multiplex congenita with pulmonary hypoplasia" + ] + }, + { + "gard_id": "GARD:0009635", + "name": "Pruritic urticarial papules plaques of pregnancy", + "synonyms": [ + "Polymorphic eruption of pregnancy", + "PUPPP", + "Pruritic urticarial papules and plaques of pregnancy, familial (subtype)" + ] + }, + { + "gard_id": "GARD:0009636", + "name": "Adenosarcoma of the uterus", + "synonyms": [ + "Mullerian adenosarcoma of the uterus", + "Uterine adenosarcoma" + ] + }, + { + "gard_id": "GARD:0009637", + "name": "Spastic diplegia cerebral palsy", + "synonyms": [ + "Cerebral palsy spastic diplegic" + ] + }, + { + "gard_id": "GARD:0009640", + "name": "Agammaglobulinemia, non-Bruton type", + "synonyms": [ + "Autosomal agammaglobulinemia" + ] + }, + { + "gard_id": "GARD:0009641", + "name": "Rufous oculocutaneous albinism", + "synonyms": [ + "Rufous OCA", + "ROCA", + "Xanthism" + ] + }, + { + "gard_id": "GARD:0009642", + "name": "Autosomal recessive juvenile Parkinson disease", + "synonyms": [ + "PDJ", + "Parkinson disease autosomal recessive, early onset", + "Juvenile parkinsonism", + "JP", + "Parkinson disease 2", + "PARK2", + "Parkinsonism, early onset, with diurnal fluctuation", + "Young-onset Parkinson disease", + "Early-onset Parkinson disease" + ] + }, + { + "gard_id": "GARD:0009643", + "name": "Pseudoxanthoma elasticum", + "synonyms": [ + "PXE", + "Gronblad Strandberg syndrome" + ] + }, + { + "gard_id": "GARD:0009644", + "name": "Multicentric Castleman Disease", + "synonyms": [ + "MCD", + "Plasmablastic multicentric Castleman disease", + "PMCD", + "Multicentric plasma cell variant of Castleman's disease", + "Idiopathic multicentric Castleman's disease", + "Multicentric giant lymph node hyperplasia" + ] + }, + { + "gard_id": "GARD:0009645", + "name": "Human T-cell leukemia virus type 1", + "synonyms": [ + "HTLV-1", + "Human T lymphotropic virus type 1" + ] + }, + { + "gard_id": "GARD:0009646", + "name": "Spinal muscular atrophy Ryukyuan type", + "synonyms": [ + "Ryukyuan muscular atrophy" + ] + }, + { + "gard_id": "GARD:0009647", + "name": "Amyloidosis corneal", + "synonyms": [ + "Corneal amyloidosis", + "GDLD", + "CDGDL", + "Gelatinous drop-like corneal dystrophy", + "Corneal dystrophy, gelatinous drop-like", + "Amyloid corneal dystrophy, Japanese type", + "Corneal dystrophy, Lattice type 3", + "Lattice corneal dystrophy type3" + ] + }, + { + "gard_id": "GARD:0009648", + "name": "Medial Medullary Syndrome", + "synonyms": [ + "MMS" + ] + }, + { + "gard_id": "GARD:0009649", + "name": "Achromatopsia 2", + "synonyms": [ + "ACHM2", + "Colorblindness, total", + "RMCH2", + "Rod monochromatism 2", + "Rod monochromacy 2" + ] + }, + { + "gard_id": "GARD:0009650", + "name": "Achromatopsia 3", + "synonyms": [ + "Pingelapese blindness", + "ACHM3", + "Achromatopsia with myopia", + "Total colorblindness with myopia", + "ACHM1 (formerly)", + "Rod monochromatism 1 (formerly)", + "Rod monochromacy 1 (formerly)", + "RMCH1 (formerly)" + ] + }, + { + "gard_id": "GARD:0009652", + "name": "Oncogenic osteomalacia", + "synonyms": [ + "Tumor-induced osteomalacia", + "Oncogenic hypophosphatemic osteomalacia", + "TIO" + ] + }, + { + "gard_id": "GARD:0009653", + "name": "Anterior spinal artery stroke", + "synonyms": null + }, + { + "gard_id": "GARD:0009654", + "name": "Hydroa vacciniforme", + "synonyms": [ + "HV" + ] + }, + { + "gard_id": "GARD:0009655", + "name": "Hyperacusis", + "synonyms": [ + "Low tolerance to sound" + ] + }, + { + "gard_id": "GARD:0009656", + "name": "Pectus carinatum", + "synonyms": [ + "Carinatum deformity of the chest" + ] + }, + { + "gard_id": "GARD:0009657", + "name": "Anauxetic dysplasia", + "synonyms": [ + "Spondylometaepiphyseal dysplasia Anauxetic type", + "Spondylometaepiphyseal dysplasia Menger type" + ] + }, + { + "gard_id": "GARD:0009658", + "name": "Bartter syndrome antenatal type 2", + "synonyms": [ + "Hypokalemic alkalosis with hypercalciuria antenatal 2", + "Hyperprostaglandin E syndrome 2" + ] + }, + { + "gard_id": "GARD:0009659", + "name": "Bartter syndrome type 3", + "synonyms": [ + "Bartter syndrome classic" + ] + }, + { + "gard_id": "GARD:0009660", + "name": "Amaurosis fugax", + "synonyms": [ + "Transient monocular blindness" + ] + }, + { + "gard_id": "GARD:0009661", + "name": "Leber congenital amaurosis 3", + "synonyms": [ + "LCA3", + "Amaurosis congenita of Leber, type 3", + "Leber congenital amaurosis type 3" + ] + }, + { + "gard_id": "GARD:0009662", + "name": "Leber congenital amaurosis 4", + "synonyms": [ + "LCA4", + "Amaurosis congenita of Leber, type 4", + "Leber congenital amaurosis type 4" + ] + }, + { + "gard_id": "GARD:0009663", + "name": "Buschke-Lowenstein tumor", + "synonyms": [ + "Giant condyloma acuminatum involving the prepuce and glans penis", + "Giant condyloma of Buschke and Löwenstein", + "GCBL" + ] + }, + { + "gard_id": "GARD:0009664", + "name": "Primary malignant melanoma of the cervix", + "synonyms": [ + "Primary malignant melanoma of the cervix uteri", + "Primary malignant melanoma of the uterine cervix" + ] + }, + { + "gard_id": "GARD:0009665", + "name": "Gynandroblastoma", + "synonyms": [ + "Ovarian gynandroblastoma" + ] + }, + { + "gard_id": "GARD:0009667", + "name": "HHV-6 encephalitis", + "synonyms": [ + "Human Herpesvirus 6 encephalitis", + "Variant A or HHV-6A", + "Variant B or HHV-6B" + ] + }, + { + "gard_id": "GARD:0009669", + "name": "Laugier-Hunziker syndrome", + "synonyms": [ + "LHS", + "Laugier and Hunziker pigmentation" + ] + }, + { + "gard_id": "GARD:0009670", + "name": "Factor XI deficiency", + "synonyms": [ + "PTA deficiency", + "F11 deficiency", + "Rosenthal syndrome", + "Plasma thromboplastin antecedent deficiency", + "Hemophilia C", + "Congenital factor XI deficiency", + "Rosenthal factor deficiency" + ] + }, + { + "gard_id": "GARD:0009671", + "name": "Lipodermatosclerosis", + "synonyms": [ + "Acute lipodermatosclerosis", + "Hypodermitis sclerodermaformis", + "Sclerosing panniculitis" + ] + }, + { + "gard_id": "GARD:0009672", + "name": "Double nails on the fifth toe", + "synonyms": [ + "Fifth toe, double nails" + ] + }, + { + "gard_id": "GARD:0009673", + "name": "Mowat-Wilson syndrome", + "synonyms": [ + "Intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease", + "Hirschsprung disease intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0009675", + "name": "Isotretinoin embryopathy like syndrome", + "synonyms": [ + "Syndrome of microtia and aortic arch anomalies", + "Microtia aortic arch syndrome" + ] + }, + { + "gard_id": "GARD:0009676", + "name": "Miyoshi myopathy", + "synonyms": [ + "Muscular dystrophy, distal, late onset, autosomal recessive", + "MM", + "Miyoshi distal myopathy" + ] + }, + { + "gard_id": "GARD:0009677", + "name": "Groenouw type I corneal dystrophy", + "synonyms": [ + "CDGG1", + "Corneal dystrophy granular type", + "Corneal dystrophy punctate or nodular" + ] + }, + { + "gard_id": "GARD:0009678", + "name": "Lattice corneal dystrophy type 1", + "synonyms": [ + "Corneal dystrophy, lattice type 1", + "CDL1", + "LCD1" + ] + }, + { + "gard_id": "GARD:0009679", + "name": "Temtamy preaxial brachydactyly syndrome", + "synonyms": [ + "Preaxial brachydactyly syndrome, Temtamy type", + "Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" + ] + }, + { + "gard_id": "GARD:0009681", + "name": "RHYNS syndrome", + "synonyms": [ + "Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia", + "Retinitis pigmentosa syndrome" + ] + }, + { + "gard_id": "GARD:0009682", + "name": "Rhizomelic chondrodysplasia punctata type 3", + "synonyms": [ + "RCDP3", + "Alkyldihydroxyacetonephosphate synthase deficiency", + "AGPS deficiency", + "Alkyglycerone-Phosphate synthase deficiency", + "Rhizomelic chondrodysplasia punctata, type 3" + ] + }, + { + "gard_id": "GARD:0009683", + "name": "Chylomicron retention disease", + "synonyms": [ + "CMRD", + "Lipid transport defect of intestine", + "Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells" + ] + }, + { + "gard_id": "GARD:0009684", + "name": "Sandifer syndrome", + "synonyms": [ + "Sandifer's syndrome" + ] + }, + { + "gard_id": "GARD:0009687", + "name": "Schistosomiasis", + "synonyms": [ + "Bilharzia", + "Blood fluke", + "Schistosoma mansoni infection", + "Katayama fever" + ] + }, + { + "gard_id": "GARD:0009688", + "name": "Meesmann corneal dystrophy", + "synonyms": [ + "Meesmann corneal epithelial dystrophy", + "Corneal dystrophy, juvenile epithelial of Meesmann", + "Juvenile hereditary epithelial dystrophy", + "Meesman dystrophy" + ] + }, + { + "gard_id": "GARD:0009689", + "name": "Congenital myasthenic syndrome with episodic apnea", + "synonyms": [ + "CMS-EA", + "Myasthenic syndrome congenital associated with episodic apnea", + "Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea", + "Congenital myasthenic syndrome type 1a", + "CMS1A", + "Myasthenia familial infantile", + "FIM", + "Myasthenia gravis familial infantile 2 (formerly)", + "FIMG2 (formerly)", + "CMS w/episodic apnea" + ] + }, + { + "gard_id": "GARD:0009690", + "name": "Kienbock's disease", + "synonyms": [ + "Kienbock disease", + "Bilateral Kienbock's disease" + ] + }, + { + "gard_id": "GARD:0009692", + "name": "Congenital dislocation of the patella", + "synonyms": [ + "Congenital patellar dislocation" + ] + }, + { + "gard_id": "GARD:0009694", + "name": "Junctional epidermolysis bullosa with pyloric atresia", + "synonyms": [ + "JEB-PA", + "Epidermolysis bullosa junctionalis with pyloric atresia", + "Junctional epidermolysis bullosa - pyloric atresia", + "Aplasia cutis congenita with gastrointestinal atresia", + "Epidermolysis bullosa with pyloric atresia", + "Carmi syndrome" + ] + }, + { + "gard_id": "GARD:0009695", + "name": "Sakoda complex", + "synonyms": [ + "Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate" + ] + }, + { + "gard_id": "GARD:0009696", + "name": "Ring dermoid of cornea", + "synonyms": [ + "RDC", + "Ring dermoid syndrome", + "Bilateral, annular limbal dermoids with corneal and conjunctival extension" + ] + }, + { + "gard_id": "GARD:0009697", + "name": "Monomelic amyotrophy", + "synonyms": [ + "Hirayama disease", + "Spinal muscular atrophy juvenile nonprogressive", + "Benign focal amyotrophy", + "Juvenile muscular atrophy of distal upper extremity (JMADUE)", + "Juvenile muscular atrophy of distal upper limb" + ] + }, + { + "gard_id": "GARD:0009698", + "name": "Recombinant chromosome 8 syndrome", + "synonyms": [ + "Rec8 syndrome", + "San Luis Valley recombinant chromosome 8 syndrome", + "San Luis Valley syndrome" + ] + }, + { + "gard_id": "GARD:0009700", + "name": "LCAD deficiency", + "synonyms": [ + "Long-chain acyl-CoA dehydrogenase deficiency", + "ACADL deficiency" + ] + }, + { + "gard_id": "GARD:0009701", + "name": "Spinal intradural arachnoid cysts", + "synonyms": [ + "Arachnoid cysts, spinal intradural" + ] + }, + { + "gard_id": "GARD:0009702", + "name": "Hooft disease", + "synonyms": [ + "Delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids" + ] + }, + { + "gard_id": "GARD:0009703", + "name": "Spondylocostal dysostosis 2", + "synonyms": [ + "SCDO2", + "Spondylocostal dysostosis 2, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0009704", + "name": "X-linked intellectual disability, Siderius type", + "synonyms": [ + "MRXSSD", + "Intellectual deficit X-linked Siderius type", + "Siderius Hamel syndrome", + "X-linked mental retardation Hamel type", + "Mental retardation X-linked Siderius type" + ] + }, + { + "gard_id": "GARD:0009705", + "name": "Ectodermal dysplasia skin fragility syndrome", + "synonyms": [ + "Mcgrath syndrome", + "Ectodermal dysplasia - skin fragility syndrome", + "Epidermolysis bullosa simplex due to plakophilin deficiency", + "Ectodermal dysplasia-skin fragility syndrome" + ] + }, + { + "gard_id": "GARD:0009706", + "name": "Snowflake vitreoretinal degeneration", + "synonyms": [ + "Vitreoretinal degeneration, Snowflake type", + "SVD", + "Snowflake degeneration in hereditary vitreoretinal degeneration" + ] + }, + { + "gard_id": "GARD:0009709", + "name": "Restless legs syndrome, susceptibility to, 1", + "synonyms": [ + "RLS1" + ] + }, + { + "gard_id": "GARD:0009710", + "name": "Restless legs syndrome, susceptibility to, 2", + "synonyms": [ + "RLS2" + ] + }, + { + "gard_id": "GARD:0009711", + "name": "Lathosterolosis", + "synonyms": [ + "Sterol c5-desaturase deficiency", + "SC5D deficiency" + ] + }, + { + "gard_id": "GARD:0009712", + "name": "Mycobacterium Marinum", + "synonyms": [ + "M. Marinum", + "Fish tank granuloma", + "Mycobacterium Marinum infection" + ] + }, + { + "gard_id": "GARD:0009713", + "name": "Levotransposition of the great arteries", + "synonyms": null + }, + { + "gard_id": "GARD:0009714", + "name": "Littoral cell angioma of the spleen", + "synonyms": [ + "Littoral cell angioma" + ] + }, + { + "gard_id": "GARD:0009715", + "name": "Griscelli syndrome type 3", + "synonyms": [ + "GS3", + "Hypomelanosis with no immunologic or neurologic manifestations" + ] + }, + { + "gard_id": "GARD:0009716", + "name": "Aspergillus niger infection", + "synonyms": [ + "Aspergillus niger infection, pulmonary" + ] + }, + { + "gard_id": "GARD:0009717", + "name": "Left-sided gallbladder", + "synonyms": [ + "Gallbladder, left-sided" + ] + }, + { + "gard_id": "GARD:0009718", + "name": "Fibrocartilaginous embolism", + "synonyms": [ + "Embolism, fibrocartilaginous" + ] + }, + { + "gard_id": "GARD:0009719", + "name": "Orbital lymphoma", + "synonyms": [ + "Primary orbital lymphoma", + "Lymphoma of the orbit" + ] + }, + { + "gard_id": "GARD:0009720", + "name": "Orbital lymphangioma", + "synonyms": null + }, + { + "gard_id": "GARD:0009721", + "name": "Herpes zoster ophthalmicus", + "synonyms": [ + "HZO", + "Herpes zoster ophthalmicus (HZO)" + ] + }, + { + "gard_id": "GARD:0009722", + "name": "Congenital pseudoarthrosis", + "synonyms": null + }, + { + "gard_id": "GARD:0009723", + "name": "Congenital ectodermal dysplasia with hearing loss", + "synonyms": [ + "Mikaelian syndrome", + "Hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers" + ] + }, + { + "gard_id": "GARD:0009724", + "name": "Nipah virus encephalitis", + "synonyms": [ + "Equine morbillivirus (formerly)" + ] + }, + { + "gard_id": "GARD:0009725", + "name": "Nephrogenic Systemic Fibrosis", + "synonyms": [ + "NSF", + "Nephrogenic Fibrosing Dermopathy", + "NFD" + ] + }, + { + "gard_id": "GARD:0009726", + "name": "Deafness, autosomal dominant nonsyndromic sensorineural 17", + "synonyms": [ + "DFNA17", + "Nonsyndromic hereditary deafness DFNA17", + "Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" + ] + }, + { + "gard_id": "GARD:0009728", + "name": "Myotonic dystrophy type 2", + "synonyms": [ + "Dystrophia myotonica type 2", + "DM2", + "Proximal myotonic myopathy", + "PROMM", + "Myotonic myopathy, proximal", + "Ricker syndrome" + ] + }, + { + "gard_id": "GARD:0009729", + "name": "Spastic paraplegia 29", + "synonyms": [ + "SPG29" + ] + }, + { + "gard_id": "GARD:0009730", + "name": "Danon disease", + "synonyms": [ + "Vacuolar cardiomyopathy and myopathy X-linked", + "X-linked vacuolar cardiomyopathy and myopathy", + "Antopol disease", + "Pseudoglycogenosis 2", + "Glycogen storage disease limited to the heart", + "Glycogen storage cardiomyopathy", + "Glycogen storage disease type 2b (formerly)", + "Lysosomal glycogen storage disease without acid maltase deficiency (formerly)", + "GSD2B (formerly)" + ] + }, + { + "gard_id": "GARD:0009731", + "name": "Bobble-head doll syndrome", + "synonyms": [ + "BHDS", + "Bobble head doll syndrome" + ] + }, + { + "gard_id": "GARD:0009732", + "name": "Epithelial basement membrane corneal dystrophy", + "synonyms": [ + "Corneal dystrophy, anterior basement membrane", + "Microcystic dystrophy of the cornea", + "Cogan corneal dystrophy", + "Map-dot-fingerprint dystrophy of cornea" + ] + }, + { + "gard_id": "GARD:0009733", + "name": "Ichthyosis lamellar 2", + "synonyms": [ + "Lamellar ichthyosis, type 2", + "LI2", + "Ichthyosis congenita IIB", + "ICR2B" + ] + }, + { + "gard_id": "GARD:0009734", + "name": "Ichthyosis lamellar 3", + "synonyms": [ + "Lamellar ichthyosis, type 3", + "Ichthyosis congenita III" + ] + }, + { + "gard_id": "GARD:0009735", + "name": "Ichthyosis lamellar, autosomal dominant", + "synonyms": [ + "Lamellar ichthyosis, autosomal dominant" + ] + }, + { + "gard_id": "GARD:0009736", + "name": "Nonbullous congenital ichthyosiform erythroderma", + "synonyms": [ + "Ichthyosiform erythroderma, congenital, nonbullous, 1", + "NCIE", + "Ichthyosiform erythroderma, Brocq congenital, nonbullous form", + "Congenital ichthyosiform erythroderma", + "CIE", + "NBCIE", + "Congenital non-bullous ichthyosiform erythroderma", + "Erythrodermic ichthyosis", + "Non-bullous congenital ichthyosiform erythroderma" + ] + }, + { + "gard_id": "GARD:0009737", + "name": "Epidermolysis bullosa simplex with mottled pigmentation", + "synonyms": [ + "EBS with mottled pigmentation", + "EBS-MP", + "Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" + ] + }, + { + "gard_id": "GARD:0009738", + "name": "Kyrle disease", + "synonyms": [ + "Kyrle's disease", + "Hyperkeratosis follicularis et parafollicularis in cutem penetrans" + ] + }, + { + "gard_id": "GARD:0009739", + "name": "Xanthogranulomatous sialadenitis", + "synonyms": [ + "Sialadenitis, xanthogranulomatous" + ] + }, + { + "gard_id": "GARD:0009740", + "name": "Familial atrial fibrillation", + "synonyms": [ + "Atrial fibrillation autosomal dominant", + "Autosomal dominant atrial fibrillation", + "Atrial fibrillation, familial", + "ATFB" + ] + }, + { + "gard_id": "GARD:0009741", + "name": "Aminoacylase 1 deficiency", + "synonyms": [ + "Deficiency of the aminoacylase-1 enzyme", + "ACY1 deficiency", + "ACY1D" + ] + }, + { + "gard_id": "GARD:0009742", + "name": "Ancylostomiasis", + "synonyms": [ + "Hookworm infection", + "Ancylostoma duodenale infection", + "Ankylostomiasis" + ] + }, + { + "gard_id": "GARD:0009743", + "name": "Duodenal ulcer due to antral G-cell hyperfunction", + "synonyms": [ + "Hypergastrinemic, hyperpepsinogenemic duodenal ulcer" + ] + }, + { + "gard_id": "GARD:0009744", + "name": "Atrophoderma vermiculata", + "synonyms": [ + "Atrophodermia reticulata", + "Folliculitis ulerythematosa", + "Folliculitis ulerythematosa reticulata", + "Honeycomb atrophy", + "Atrophodermia vermiculata", + "Atrophodermia reticulata symmetrica faciei", + "Atrophoderma vermiculatum" + ] + }, + { + "gard_id": "GARD:0009745", + "name": "Metagonimiasis", + "synonyms": [ + "Metagonimus yokogawai infection" + ] + }, + { + "gard_id": "GARD:0009746", + "name": "Opisthorchiasis", + "synonyms": [ + "Infection due to cat liver fluke", + "Infection due to Opisthorchis (felineus)(viverrini)" + ] + }, + { + "gard_id": "GARD:0009747", + "name": "Cercarial Dermatitis", + "synonyms": [ + "Swimmer's itch" + ] + }, + { + "gard_id": "GARD:0009748", + "name": "Systemic scleroderma", + "synonyms": [ + "Systemic sclerosis", + "Scleroderma, systemic", + "Progressive systemic sclerosis" + ] + }, + { + "gard_id": "GARD:0009749", + "name": "Limited systemic sclerosis", + "synonyms": [ + "Systemic sclerosis sine scleroderma", + "Progressive systemic sclerosis sine scleroderma", + "Scleroderma, sine" + ] + }, + { + "gard_id": "GARD:0009750", + "name": "Di Guglielmo's syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0009751", + "name": "Diffuse cutaneous systemic sclerosis", + "synonyms": [ + "Diffuse cutaneous systemic sclerosis", + "DcSSc", + "Progressive cutaneous systemic scleroderma", + "Progressive cutaneous systemic sclerosis", + "Diffuse cutaneous systemic scleroderma" + ] + }, + { + "gard_id": "GARD:0009752", + "name": "Cutaneous sclerosis", + "synonyms": null + }, + { + "gard_id": "GARD:0009754", + "name": "Nguyen syndrome", + "synonyms": [ + "MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia" + ] + }, + { + "gard_id": "GARD:0009757", + "name": "Red skin pigment anomaly of New Guinea", + "synonyms": [ + "Red skin pigment, New Guinea type" + ] + }, + { + "gard_id": "GARD:0009758", + "name": "Familial hypocalciuric hypercalcemia type 2", + "synonyms": [ + "HHC2", + "Familial benign hypercalcemia, type 2", + "FBH2", + "Hypercalcemia, familial benign type 2", + "Hypocalciuric hypercalcemia, familial, type 2" + ] + }, + { + "gard_id": "GARD:0009759", + "name": "Leukonychia totalis", + "synonyms": [ + "Hereditary white nails", + "Porcelain nails", + "Nail disorder, nonsyndromic congenital, 3", + "NDNC3", + "Total leukonychia" + ] + }, + { + "gard_id": "GARD:0009760", + "name": "Hereditary koilonychia", + "synonyms": [ + "Congenital koilonychia", + "Familial koilonychia" + ] + }, + { + "gard_id": "GARD:0009761", + "name": "Nail dysplasia, isolated congenital", + "synonyms": [ + "Congenital Isolated nail dysplasia", + "Isolated congenital nail dysplasia" + ] + }, + { + "gard_id": "GARD:0009762", + "name": "Potocki-Shaffer syndrome", + "synonyms": [ + "PSS", + "Deletion of chromosome 11p11.2", + "Proximal 11p deletion syndrome", + "11p11.2 deletion" + ] + }, + { + "gard_id": "GARD:0009764", + "name": "Pseudoainhum", + "synonyms": null + }, + { + "gard_id": "GARD:0009765", + "name": "Myokymia with neonatal epilepsy", + "synonyms": [ + "Epilepsy, benign neonatal, with Myokymia", + "Convulsions, benign familial neonatal with Myokymia", + "BFNC/Myokymia syndrome" + ] + }, + { + "gard_id": "GARD:0009766", + "name": "Morvan's fibrillary chorea", + "synonyms": null + }, + { + "gard_id": "GARD:0009767", + "name": "Necrotizing enterocolitis", + "synonyms": [ + "Enterocolitis, necrotizing", + "NEC" + ] + }, + { + "gard_id": "GARD:0009768", + "name": "Pityriasis lichenoides et varioliformis acuta", + "synonyms": [ + "PLEVA", + "Mucha-Habermann disease" + ] + }, + { + "gard_id": "GARD:0009769", + "name": "Oligoastrocytoma", + "synonyms": null + }, + { + "gard_id": "GARD:0009771", + "name": "Clostridium sordellii infection", + "synonyms": [ + "Clostridium sordellii toxic shock syndrome", + "C. sordellii infection" + ] + }, + { + "gard_id": "GARD:0009772", + "name": "Stenotrophomonas maltophilia infection", + "synonyms": [ + "Stenotrophomonas maltophilia", + "S. maltophilia infection", + "S. maltophilia" + ] + }, + { + "gard_id": "GARD:0009773", + "name": "Mycobacterium fortuitum", + "synonyms": [ + "M. Fortuitum", + "Mycobacterium Fortuitum infection" + ] + }, + { + "gard_id": "GARD:0009774", + "name": "Pasteurella multocida infection", + "synonyms": null + }, + { + "gard_id": "GARD:0009775", + "name": "Dowling-Degos disease", + "synonyms": [ + "Reticulate acropigmentation of Kitamura", + "Reticular pigment anomaly of flexures", + "Dowling-Degos Kitamura disease", + "Kitamura reticulate acropigmentation" + ] + }, + { + "gard_id": "GARD:0009777", + "name": "Pulmonary arteriovenous malformation", + "synonyms": [ + "PAVM", + "Pulmonary arteriovenous fistula", + "Pulmonary AVM", + "Arteriovenous malformation, pulmonary" + ] + }, + { + "gard_id": "GARD:0009778", + "name": "CANOMAD syndrome", + "synonyms": [ + "Chronic Ataxic Neuropathy Ophthalmoplegia M-protein Agglutination Disialosyl antibodies syndrome", + "Chronic sensory ataxic neuropathy with anti-disialosyl antibodies" + ] + }, + { + "gard_id": "GARD:0009779", + "name": "Aerobic actinomyces infection", + "synonyms": null + }, + { + "gard_id": "GARD:0009780", + "name": "Paine syndrome", + "synonyms": [ + "Microcephaly with spastic diplegia" + ] + }, + { + "gard_id": "GARD:0009781", + "name": "MECP2 duplication syndrome", + "synonyms": [ + "MRXSL", + "Lubs X-linked mental retardation syndrome (formerly)", + "XLMR syndrome, Lubs type", + "Mental retardation, X-linked, Lubs type (formerly)", + "Trisomy Xq28" + ] + }, + { + "gard_id": "GARD:0009783", + "name": "Human T-cell leukemia virus type 2", + "synonyms": [ + "HTLV-2", + "Human T lymphotropic virus type 2" + ] + }, + { + "gard_id": "GARD:0009784", + "name": "Human T-cell leukemia virus type 3", + "synonyms": [ + "HTLV-3", + "Human T lymphotropic virus type 3" + ] + }, + { + "gard_id": "GARD:0009785", + "name": "Streptococcal Group B invasive disease", + "synonyms": null + }, + { + "gard_id": "GARD:0009786", + "name": "Group B strep disease in newborns", + "synonyms": [ + "Late-onset group B strep disease in newborns" + ] + }, + { + "gard_id": "GARD:0009787", + "name": "Parkes Weber syndrome", + "synonyms": [ + "PKWS" + ] + }, + { + "gard_id": "GARD:0009788", + "name": "Basal cell carcinoma, infundibulocystic", + "synonyms": [ + "Basal cell carcinoma with follicular differentiation" + ] + }, + { + "gard_id": "GARD:0009789", + "name": "Lymphatic malformations", + "synonyms": [ + "Lymphangiomas" + ] + }, + { + "gard_id": "GARD:0009790", + "name": "Anterior ischemic optic neuropathy", + "synonyms": [ + "AION", + "Ischemic optic neuropathy" + ] + }, + { + "gard_id": "GARD:0009791", + "name": "Multiple epiphyseal dysplasia 2", + "synonyms": [ + "Epiphyseal dysplasia multiple 2", + "EDM2" + ] + }, + { + "gard_id": "GARD:0009792", + "name": "Multiple epiphyseal dysplasia 3", + "synonyms": [ + "Epiphyseal dysplasia multiple 3", + "EDM3" + ] + }, + { + "gard_id": "GARD:0009793", + "name": "Multiple epiphyseal dysplasia 4", + "synonyms": [ + "Epiphyseal dysplasia multiple 4", + "EDM4", + "Multiple epiphyseal dysplasia, autosomal recessive", + "Autosomal recessive multiple epiphyseal dysplasia", + "Multiple epiphyseal dysplasia with clubfoot", + "Multiple epiphyseal dysplasia with double-layered patella", + "Multiple epiphyseal dysplasia with bilayered patellae" + ] + }, + { + "gard_id": "GARD:0009794", + "name": "Multiple epiphyseal dysplasia 5", + "synonyms": [ + "Epiphyseal dysplasia multiple 5", + "EDM5", + "Multiple epiphyseal dysplasia, MATN3 related" + ] + }, + { + "gard_id": "GARD:0009795", + "name": "Naxos disease", + "synonyms": [ + "Mal de Naxos", + "Woolly hair palmoplantar keratoderma cardiac abnormalities", + "Keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair" + ] + }, + { + "gard_id": "GARD:0009796", + "name": "Caspase-8 deficiency", + "synonyms": [ + "Autoimmune lymphoproliferative syndrome type 2B", + "ALPS2B", + "Caspase 8 deficiency" + ] + }, + { + "gard_id": "GARD:0009797", + "name": "Dianzani autoimmune lymphoproliferative syndrome", + "synonyms": [ + "Dianzani form of autoimmune lymphoproliferative disease", + "Autoimmune lymphoproliferative syndrome without FAS mutations" + ] + }, + { + "gard_id": "GARD:0009798", + "name": "Auriculo-condylar syndrome", + "synonyms": [ + "Auriculocondylar syndrome", + "Question mark ear", + "Ears prominent and constricted" + ] + }, + { + "gard_id": "GARD:0009799", + "name": "Familial cutaneous collagenoma", + "synonyms": null + }, + { + "gard_id": "GARD:0009802", + "name": "Progressive familial intrahepatic cholestasis 1", + "synonyms": [ + "PFIC1", + "Progressive familial intrahepatic cholestasis", + "Cholestasis, fatal intrahepatic", + "Byler's disease", + "Byler disease", + "Severe ATP8B1 deficiency" + ] + }, + { + "gard_id": "GARD:0009803", + "name": "Progressive familial intrahepatic cholestasis-4", + "synonyms": [ + "PFIC4", + "Progressive familial intrahepatic cholestasis 4", + "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" + ] + }, + { + "gard_id": "GARD:0009804", + "name": "Intrahepatic cholestasis of pregnancy", + "synonyms": [ + "Familial intrahepatic cholestasis of pregnancy", + "ICP", + "Recurrent intrahepatic cholestasis of pregnancy", + "RICP", + "Pregnancy related cholestasis", + "Familial recurrent intrahepatic cholestasis of pregnancy", + "Cholestasis, intrahepatic of pregnancy", + "Gravidic intrahepatic cholestasis", + "Pregnancy-related cholestasis" + ] + }, + { + "gard_id": "GARD:0009805", + "name": "Morgellons", + "synonyms": [ + "Morgellon's" + ] + }, + { + "gard_id": "GARD:0009806", + "name": "Vibratory urticaria", + "synonyms": [ + "Angioedema, vibratory", + "Vibratory angioedema" + ] + }, + { + "gard_id": "GARD:0009808", + "name": "Pilocytic astrocytoma", + "synonyms": [ + "Juvenile pilocytic astrocytoma" + ] + }, + { + "gard_id": "GARD:0009809", + "name": "Enteropathy-associated T-cell lymphoma", + "synonyms": [ + "EATCL", + "High-grade pleomorphic peripheral T-cell lymphoma" + ] + }, + { + "gard_id": "GARD:0009810", + "name": "Dyssegmental dysplasia Rolland-Desbuquois type", + "synonyms": [ + "DDRD", + "Dyssegmental dwarfism Rolland-Desbuquois type", + "Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type" + ] + }, + { + "gard_id": "GARD:0009811", + "name": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome", + "synonyms": [ + "Belgian type mental retardation syndrome" + ] + }, + { + "gard_id": "GARD:0009812", + "name": "T-cell large granular lymphocyte leukemia", + "synonyms": [ + "T-cell LGL leukemia", + "Large Cell Granular Lymphogenous Leukemia", + "T-LGL leukemia", + "Proliferation of large granular lymphocytes", + "T-LGL" + ] + }, + { + "gard_id": "GARD:0009813", + "name": "Congenital bile acid synthesis defect, type 1", + "synonyms": [ + "CBAS1", + "3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of", + "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency", + "Congenital bile acid synthesis defect type 1", + "BASD1" + ] + }, + { + "gard_id": "GARD:0009814", + "name": "Tukel syndrome", + "synonyms": [ + "Congenital extraocular muscle fibrosis with ulnar hand anomalies", + "CFEOM-U" + ] + }, + { + "gard_id": "GARD:0009815", + "name": "Paragonimiasis", + "synonyms": [ + "Paragonimus westermani infection" + ] + }, + { + "gard_id": "GARD:0009817", + "name": "Dopa-responsive dystonia", + "synonyms": [ + "DYT-GCH1 (subtype)", + "DYT-TH (subtype)", + "DYT-SPR (subtype)", + "HPD with diurnal fluctuation", + "Hereditary progressive dystonia with diurnal fluctuation" + ] + }, + { + "gard_id": "GARD:0009818", + "name": "Juvenile-onset dystonia", + "synonyms": [ + "Dystonia, juvenile-onset" + ] + }, + { + "gard_id": "GARD:0009820", + "name": "Catastrophic antiphospholipid syndrome", + "synonyms": [ + "Catastrophic antiphospholipid antibody syndrome", + "Thrombotic storm" + ] + }, + { + "gard_id": "GARD:0009821", + "name": "Pattern dystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0009822", + "name": "Anal sphincter dysplasia", + "synonyms": [ + "ASDP" + ] + }, + { + "gard_id": "GARD:0009823", + "name": "Acardia", + "synonyms": [ + "Congenital absence of the heart" + ] + }, + { + "gard_id": "GARD:0009824", + "name": "Multifocal choroiditis", + "synonyms": null + }, + { + "gard_id": "GARD:0009826", + "name": "PMM2-CDG (CDG-Ia)", + "synonyms": [ + "CDG 1A", + "CDG1A", + "Jaeken syndrome", + "Carbohydrate-deficient glycoprotein syndrome type 1A", + "Phosphomannomutase 2 deficiency", + "Carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", + "Congenital disorder of glycosylation, type Ia", + "CDG syndrome type Ia", + "CDG-Ia", + "Carbohydrate deficient glycoprotein syndrome type Ia", + "Congenital disorder of glycosylation type 1a", + "Congenital disorder of glycosylation type Ia", + "PMM2-CDG" + ] + }, + { + "gard_id": "GARD:0009827", + "name": "ALG3-CDG (CDG-Id)", + "synonyms": [ + "CDG 1D", + "CDG1D", + "Carbohydrate-deficient glycoprotein syndrome type IV (formerly)", + "CDGS4 (formerly)", + "ALG3-CDG (CDG-Id)", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id", + "CDG syndrome type Id", + "CDG-Id", + "Congenital disorder of glycosylation type 1d", + "ALG3-CDG", + "Carbohydrate deficient glycoprotein syndrome type Id", + "Congenital disorder of glycosylation type Id", + "Mannosyltransferase 6 deficiency" + ] + }, + { + "gard_id": "GARD:0009828", + "name": "MGAT2-CDG (CDG-IIa)", + "synonyms": [ + "CDG 2A", + "CDG2A", + "Carbohydrate-deficient glycoprotein syndrome type 2", + "CDGS2", + "Congenital disorder of glycosylation, type IIa", + "Congenital disorder of glycosylation type IIA", + "CDG-IIa", + "ALKURAYA SYNDROME", + "MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH", + "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY", + "CDG syndrome type IIa", + "N-acetylglucosaminyltransferase 2 deficiency", + "Congenital disorder of glycosylation type 2a", + "Carbohydrate deficient glycoprotein syndrome type IIa", + "MGAT2-CDG" + ] + }, + { + "gard_id": "GARD:0009829", + "name": "ALG6-CDG (CDG-Ic)", + "synonyms": [ + "CDG 1C", + "CDG1C", + "Carbohydrate-deficient glycoprotein syndrome type 1C", + "Carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)", + "Carbohydrate-deficient glycoprotein syndrome, type V (formerly)", + "CDGS5 (formerly)", + "ALG6-CDG (CDG-Ic)", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic", + "ALG6-CDG", + "Carbohydrate deficient glycoprotein syndrome type Ic", + "CDG syndrome type Ic", + "CDG-Ic", + "Congenital disorder of glycosylation type 1c", + "Congenital disorder of glycosylation type Ic", + "Glucosyltransferase 1 deficiency" + ] + }, + { + "gard_id": "GARD:0009830", + "name": "MPI-CDG (CDG-Ib)", + "synonyms": [ + "CDG 1B", + "CDG1B", + "Carbohydrate-deficient glycoprotein syndrome type 1B", + "MPI deficiency", + "Protein-losing enteropathy-hepatic fibrosis syndrome", + "Saguenay Lac Saint Jean syndrome", + "SLSJ syndrome", + "Mannosephosphate isomerase deficiency", + "CDG gastrointestinal type", + "MPI-CDG (CDG-Ib)", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib" + ] + }, + { + "gard_id": "GARD:0009831", + "name": "DPM1-CDG (CDG-Ie)", + "synonyms": [ + "CDG 1E", + "CDG1E", + "Carbohydrate-deficient glycoprotein syndrome type 1E", + "DPM1-CDG (CDG-Ie)", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie", + "CDG syndrome type Ie", + "CDG-Ie", + "Dol-P-mannosyltransferase deficiency", + "Congenital disorder of glycosylation type 1e", + "Carbohydrate deficient glycoprotein syndrome type Ie", + "Congenital disorder of glycosylation type Ie", + "DPM1-CDG" + ] + }, + { + "gard_id": "GARD:0009832", + "name": "MPDU1-CDG (CDG-If)", + "synonyms": [ + "CDG 1F", + "CDG1F", + "Carbohydrate-deficient glycoprotein syndrome type 1F", + "MPDU1-CDG (CDG-If)", + "Congenital disorder of glycosylation, type If", + "CDG syndrome type If", + "CDG-If", + "Congenital disorder of glycosylation type 1f", + "Carbohydrate deficient glycoprotein syndrome type If", + "Congenital disorder of glycosylation type If", + "MPDU1-CDG" + ] + }, + { + "gard_id": "GARD:0009833", + "name": "ALG12-CDG (CDG-Ig)", + "synonyms": [ + "CDG 1G", + "CDG1G", + "ALG12-CDG (CDG-Ig)", + "ALG12-congenital disorder of glycosylation", + "Congenital disorder of glycosylation, type Ig", + "CDG syndrome type Ig", + "CDG-Ig", + "Carbohydrate deficient glycoprotein syndrome type Ig", + "Congenital disorder of glycosylation type 1g", + "Mannosyltransferase 8 deficiency", + "ALG12-CDG", + "Congenital disorder of glycosylation type Ig" + ] + }, + { + "gard_id": "GARD:0009834", + "name": "ALG8-CDG (CDG-Ih)", + "synonyms": [ + "CDG 1H", + "CDG1H", + "ALG8-CDG (CDG-Ih)", + "Congenital disorder of glycosylation, type Ih", + "CDG syndrome type Ih", + "CDG-Ih", + "Carbohydrate deficient glycoprotein syndrome type Ih", + "Congenital disorder of glycosylation type 1h", + "Glucosyltransferase 2 deficiency", + "ALG8-CDG", + "Congenital disorder of glycosylation type Ih" + ] + }, + { + "gard_id": "GARD:0009835", + "name": "Emanuel syndrome", + "synonyms": [ + "Supernumerary der(22),t(11;22) syndrome", + "Supernumerary der(22) syndrome" + ] + }, + { + "gard_id": "GARD:0009836", + "name": "ALG2-CDG (CDG-Ii)", + "synonyms": [ + "CDG 1I", + "CDG1I", + "Carbohydrate-deficient glycoprotein syndrome type 1I", + "ALG2-CDG (CDG-Ii)", + "Congenital disorder of glycosylation, type Ii", + "CDG syndrome type Ii", + "CDG-Ii", + "Carbohydrate deficient glycoprotein syndrome type Ii", + "Mannosyltransferase 2 deficiency", + "Congenital disorder of glycosylation type 1i", + "ALG2-CDG", + "Congenital disorder of glycosylation type Ii" + ] + }, + { + "gard_id": "GARD:0009837", + "name": "DPAGT1-CDG (CDG-Ij)", + "synonyms": [ + "CDG 1J", + "CDG1J", + "DPAGT1-CDG (CDG-Ij)", + "Congenital disorder of glycosylation, type Ij", + "CDG syndrome type Ij", + "CDG-Ij", + "Carbohydrate deficient glycoprotein syndrome type Ij", + "Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency", + "Congenital disorder of glycosylation type 1j", + "Congenital disorder of glycosylation type Ij", + "DPAGT1-CDG" + ] + }, + { + "gard_id": "GARD:0009838", + "name": "ALG1-CDG (CDG-Ik)", + "synonyms": [ + "CDG 1K", + "CDG1K", + "ALG1-CDG (CDG-Ik)", + "Congenital disorder of glycosylation, type Ik", + "CDG syndrome type Ik", + "CDG-Ik", + "Carbohydrate deficient glycoprotein syndrome type Ik", + "Congenital disorder of glycosylation type 1k", + "Mannosyltransferase 1 deficiency", + "ALG1-CDG", + "Congenital disorder of glycosylation type Ik" + ] + }, + { + "gard_id": "GARD:0009839", + "name": "ALG9-CDG (CDG-IL)", + "synonyms": [ + "CDG 1L", + "CDG1L", + "ALG9-CDG (CDG-IL)", + "Congenital disorder of glycosylation, type Il", + "CDG syndrome type IL", + "CDG-IL", + "Carbohydrate deficient glycoprotein syndrome type IL", + "Congenital disorder of glycosylation type 1L", + "Mannosyltransferase 7-9 deficiency", + "ALG9-CDG", + "Congenital disorder of glycosylation type IL", + "Carbohydrate deficient glycoprotein syndrome type 1L" + ] + }, + { + "gard_id": "GARD:0009840", + "name": "Congenital disorder of glycosylation type I/IIX", + "synonyms": [ + "CDG X" + ] + }, + { + "gard_id": "GARD:0009841", + "name": "B4GALT1-CDG (CDG-IId)", + "synonyms": [ + "CDG 2D", + "CDG2D", + "Congenital disorder of glycosylation, type IId", + "Congenital disorder of glycosylation type IID", + "Beta-1,4-galactosyltransferase deficiency", + "CDG syndrome type IId", + "Carbohydrate deficient glycoprotein syndrome type IId", + "CDG-IId", + "Congenital disorder of glycosylation type 2d", + "B4GALT1-CDG" + ] + }, + { + "gard_id": "GARD:0009842", + "name": "COG7-CDG (CDG-IIe)", + "synonyms": [ + "CDG 2E", + "CDG2E", + "Congenital disorder of glycosylation type 2e", + "Congenital disorder of glycosylation type IIe", + "Carbohydrate deficient glycoprotein syndrome type IIe", + "CDG syndrome type IIe", + "CDG-IIe", + "Congenital disorder of glycosylation, type IIe" + ] + }, + { + "gard_id": "GARD:0009843", + "name": "Primary familial and congenital polycythemia", + "synonyms": [ + "ECYT1", + "Polycythemia, primary familial and congenital", + "PFCP", + "Erythrocytosis autosomal dominant benign", + "Congenital polycythemia due to erythropoietin receptor mutation", + "Congenital erythrocytosis due to erythropoietin receptor mutation", + "Autosomal dominant familial erythrocytosis-1", + "Familial erythrocytosis type 1", + "Familial erythrocytosis 1", + "Primary familial polycythemia", + "Familial erythrocytosis", + "Primary congenital erythrocytosis" + ] + }, + { + "gard_id": "GARD:0009844", + "name": "Microcephalic osteodysplastic primordial dwarfism type 2", + "synonyms": [ + "MOPD 2", + "MOPD II", + "Osteodysplastic primordial dwarfism type 2", + "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", + "Majewski osteodysplastic primordial dwarfism type II" + ] + }, + { + "gard_id": "GARD:0009846", + "name": "Heart-hand syndrome, Slovenian type", + "synonyms": null + }, + { + "gard_id": "GARD:0009847", + "name": "Tabatznik syndrome", + "synonyms": [ + "Heart-hand syndrome 2" + ] + }, + { + "gard_id": "GARD:0009848", + "name": "Glutamine deficiency, congenital", + "synonyms": [ + "Glutamine synthetase deficiency, congenital systemic", + "Congenital glutamine deficiency" + ] + }, + { + "gard_id": "GARD:0009849", + "name": "Goldberg-Shprintzen megacolon syndrome", + "synonyms": [ + "Goldberg-Shprintzen syndrome", + "GOSHS" + ] + }, + { + "gard_id": "GARD:0009850", + "name": "Shprintzen omphalocele syndrome", + "synonyms": [ + "Shprintzen-Goldberg omphalocele syndrome", + "Omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies", + "Laryngeal and pharyngeal hypoplasia with omphalocele", + "Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis", + "Omphalocele syndrome, Shprintzen-Goldberg type", + "Pharynx and larynx hypoplasia with omphalocele" + ] + }, + { + "gard_id": "GARD:0009851", + "name": "Episodic ataxia", + "synonyms": [ + "EA syndrome", + "Episodic Ataxia syndrome" + ] + }, + { + "gard_id": "GARD:0009852", + "name": "Nondystrophic myotonia", + "synonyms": [ + "NDM" + ] + }, + { + "gard_id": "GARD:0009856", + "name": "Pediatric Crohn's disease", + "synonyms": [ + "Pediatric onset Crohn's disease", + "Crohn's disease, pediatric" + ] + }, + { + "gard_id": "GARD:0009857", + "name": "Pediatric ulcerative colitis", + "synonyms": [ + "Ulcerative colitis, pediatric" + ] + }, + { + "gard_id": "GARD:0009858", + "name": "Catamenial pneumothorax", + "synonyms": null + }, + { + "gard_id": "GARD:0009860", + "name": "Amelogenesis imperfecta hypoplastic type, IG", + "synonyms": [ + "AI1G", + "Amelogenesis imperfecta and nephrocalcinosis", + "Enamel-renal syndrome", + "ERS" + ] + }, + { + "gard_id": "GARD:0009861", + "name": "Trichoscyphodysplasia", + "synonyms": [ + "Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia", + "Metaphyseal chondrodysplasia with ectodermal dysplasia", + "Cupped metaphyses and cone-shaped epiphyses with alopecia" + ] + }, + { + "gard_id": "GARD:0009862", + "name": "Cyclic thrombocytopenia", + "synonyms": [ + "Thrombocytopenia cyclic" + ] + }, + { + "gard_id": "GARD:0009863", + "name": "Synostoses, tarsal, carpal, and digital", + "synonyms": [ + "Calcaneonavicular coalition" + ] + }, + { + "gard_id": "GARD:0009866", + "name": "Spondyloepimetaphyseal dysplasia with multiple dislocations", + "synonyms": [ + "Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type", + "Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" + ] + }, + { + "gard_id": "GARD:0009867", + "name": "Spinocerebellar ataxia 14", + "synonyms": [ + "SCA14", + "Spinocerebellar ataxia type 14" + ] + }, + { + "gard_id": "GARD:0009870", + "name": "3-alpha hydroxyacyl-CoA dehydrogenase deficiency", + "synonyms": [ + "3-hydroxylacyl-CoA dehydrogenase deficiency", + "Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency", + "M/SCHAD", + "HADH deficiency" + ] + }, + { + "gard_id": "GARD:0009872", + "name": "Sideroblastic anemia pyridoxine-responsive autosomal recessive", + "synonyms": [ + "Anemia congenital sideroblastic B6-responsive", + "Pyridoxine-responsive sideroblastic anemia", + "B6-responsive sideroblastic anemia" + ] + }, + { + "gard_id": "GARD:0009873", + "name": "Lateral meningocele syndrome", + "synonyms": [ + "LMS", + "Lehman syndrome" + ] + }, + { + "gard_id": "GARD:0009874", + "name": "Amyotrophic lateral sclerosis type 6", + "synonyms": [ + "ALS6" + ] + }, + { + "gard_id": "GARD:0009876", + "name": "Aortic aneurysm, familial thoracic 4", + "synonyms": [ + "AAT4", + "FAA4", + "Aortic aneurysm/aortic dissection and patent ductus arteriosus" + ] + }, + { + "gard_id": "GARD:0009878", + "name": "Colloid cysts of third ventricle", + "synonyms": [ + "Neuroepithelial cysts of third ventricle" + ] + }, + { + "gard_id": "GARD:0009879", + "name": "Fibular hypoplasia and complex brachydactyly", + "synonyms": [ + "Du pan syndrome" + ] + }, + { + "gard_id": "GARD:0009882", + "name": "Cortisone reductase deficiency", + "synonyms": [ + "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of", + "HSD 11b1 deficiency" + ] + }, + { + "gard_id": "GARD:0009884", + "name": "Juvenile myelomonocytic leukemia", + "synonyms": [ + "JMML", + "Leukemia, juvenile myelomonocytic" + ] + }, + { + "gard_id": "GARD:0009885", + "name": "Noonan syndrome 3", + "synonyms": [ + "NS3", + "KRAS gene related Noonan syndrome" + ] + }, + { + "gard_id": "GARD:0009886", + "name": "Ichthyosis prematurity syndrome", + "synonyms": [ + "Ichthyosis congenita IV", + "IPS" + ] + }, + { + "gard_id": "GARD:0009887", + "name": "Macular dystrophy, concentric annular", + "synonyms": [ + "MCDCA", + "Maculopathy, bull's eye" + ] + }, + { + "gard_id": "GARD:0009888", + "name": "Pyruvate dehydrogenase phosphatase deficiency", + "synonyms": [ + "Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" + ] + }, + { + "gard_id": "GARD:0009890", + "name": "Optic atrophy 1", + "synonyms": [ + "OPA1", + "Optic atrophy, juvenile", + "Kjer-type optic atrophy", + "Optic atrophy, Kjer type", + "OAK", + "Optic atrophy type 1", + "Autosomal dominant optic atrophy, classic form" + ] + }, + { + "gard_id": "GARD:0009891", + "name": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis", + "synonyms": [ + "FHHNC", + "Michellis-Castrillo syndrome" + ] + }, + { + "gard_id": "GARD:0009892", + "name": "Cataract, autosomal recessive congenital 2", + "synonyms": [ + "CATC2" + ] + }, + { + "gard_id": "GARD:0009893", + "name": "Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia", + "synonyms": [ + "Brachyphalangy, polydactyly and absent tibiae" + ] + }, + { + "gard_id": "GARD:0009895", + "name": "Slow-channel congenital myasthenic syndrome", + "synonyms": [ + "SCCMS", + "Myasthenic syndrome, congenital, postsynaptic slow-channel", + "Myasthenic syndrome, congenital, type IIa", + "CMS2A", + "CMS IIa", + "Myasthenic syndrome, congenital, slow-channel", + "Slow channel congenital myasthenic syndrome" + ] + }, + { + "gard_id": "GARD:0009896", + "name": "Myopathy, limb-girdle, with bone fragility", + "synonyms": null + }, + { + "gard_id": "GARD:0009898", + "name": "Posterior column ataxia with retinitis pigmentosa", + "synonyms": [ + "PCARP", + "AXPC1" + ] + }, + { + "gard_id": "GARD:0009899", + "name": "Hodgkin disease, X-linked pseudoautosomal", + "synonyms": null + }, + { + "gard_id": "GARD:0009900", + "name": "Congenital pulmonary lymphangiectasia", + "synonyms": [ + "CPL", + "Lymphangiomatosis pulmonary", + "Pulmonary cystic lymphangiectasis", + "Lymphangiectasia pulmonary congenital" + ] + }, + { + "gard_id": "GARD:0009901", + "name": "Hereditary hemorrhagic telangiectasia type 2", + "synonyms": [ + "HHT2", + "Osler Weber Rendu syndrome type 2", + "Telangiectasia hereditary hemorrhagic type 2", + "ORW2" + ] + }, + { + "gard_id": "GARD:0009902", + "name": "Hereditary hemorrhagic telangiectasia type 3", + "synonyms": [ + "HHT3", + "Osler Weber Rendu syndrome type 3", + "Telangiectasia hereditary hemorrhagic type 3", + "ORW3" + ] + }, + { + "gard_id": "GARD:0009903", + "name": "Preaxial polydactyly type 4", + "synonyms": [ + "Polysyndactyly uncomplicated", + "Polydactyly preaxial 4", + "Preaxial polydactyly 4", + "Preaxial polydactyly type 4", + "Polysyndactyly", + "PPD4" + ] + }, + { + "gard_id": "GARD:0009904", + "name": "Osteosclerosis with ichthyosis and premature ovarian failure", + "synonyms": [ + "Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure", + "Osteosclerosis with ichthyosis and POF" + ] + }, + { + "gard_id": "GARD:0009907", + "name": "Amyopathic dermatomyositis", + "synonyms": [ + "ADM", + "Dermatomyositis sine myositis" + ] + }, + { + "gard_id": "GARD:0009908", + "name": "Cryofibrinogenemia", + "synonyms": null + }, + { + "gard_id": "GARD:0009909", + "name": "Sheldon-Hall syndrome", + "synonyms": [ + "DA2B", + "Arthrogryposis multiplex congenita distal type 2B", + "Freeman Sheldon syndrome, variant", + "Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities", + "Distal arthrogryposis type 2B", + "Distal arthrogryposis type IIB", + "Freeman Sheldon variant", + "Freeman-Sheldon syndrome variant" + ] + }, + { + "gard_id": "GARD:0009910", + "name": "Epidermolysis bullosa, lethal acantholytic", + "synonyms": [ + "EBLA" + ] + }, + { + "gard_id": "GARD:0009911", + "name": "Gingival fibromatosis, 3", + "synonyms": [ + "GINGF3", + "GGF3", + "HGF3", + "Hereditary gingival fibromatosis, 3", + "Fibromatosis gingival, hereditary, 3" + ] + }, + { + "gard_id": "GARD:0009912", + "name": "Lennox-Gastaut syndrome", + "synonyms": [ + "Encephalopathy of childhood", + "Epileptic encephalopathy Lennox-Gastaut type" + ] + }, + { + "gard_id": "GARD:0009913", + "name": "Properdin deficiency, X-linked", + "synonyms": [ + "Properdin P factor deficiency", + "PFD", + "Properdin deficiency, type 1" + ] + }, + { + "gard_id": "GARD:0009914", + "name": "Glomerulopathy with fibronectin deposits 2", + "synonyms": [ + "GFND2", + "Glomerular nephritis familial with fibronectin deposits", + "Fibronectin glomerulopathy" + ] + }, + { + "gard_id": "GARD:0009915", + "name": "Leucine-sensitive hypoglycemia of infancy", + "synonyms": [ + "Hypoglycemia leucine-induced", + "Hypoglycemia leucine induced", + "Familial infantile hypoglycemia precipitated by leucine" + ] + }, + { + "gard_id": "GARD:0009916", + "name": "Multiple synostoses syndrome 2", + "synonyms": [ + "SYNS2" + ] + }, + { + "gard_id": "GARD:0009917", + "name": "Immunodeficiency without anhidrotic ectodermal dysplasia", + "synonyms": [ + "Immunodeficiency, isolated", + "Immunodeficiency, pure" + ] + }, + { + "gard_id": "GARD:0009918", + "name": "Deafness, autosomal recessive 51", + "synonyms": [ + "DFNB51" + ] + }, + { + "gard_id": "GARD:0009919", + "name": "Deafness, autosomal recessive 55", + "synonyms": [ + "DFNB55" + ] + }, + { + "gard_id": "GARD:0009920", + "name": "Mitochondrial neurogastrointestinal encephalopathy syndrome", + "synonyms": [ + "MNGIE", + "Myoneurogastrointestinal encephalopathy syndrome", + "MNGIE syndrome", + "Oculogastrointestinal muscular dystrophy", + "OGIMD", + "Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction", + "POLIP", + "Thymidine phosphorylase deficiency" + ] + }, + { + "gard_id": "GARD:0009921", + "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", + "synonyms": [ + "PLOSL", + "Nasu-Hakola disease", + "NHD", + "Presenile dementia with bone cysts", + "Dementia, prefrontal, with bone cysts", + "Dementia, progressive, with lipomembranous polycystic osteodysplasia", + "Brain-bone-fat disease" + ] + }, + { + "gard_id": "GARD:0009923", + "name": "FG syndrome 2", + "synonyms": [ + "FGS2" + ] + }, + { + "gard_id": "GARD:0009924", + "name": "FG syndrome 3", + "synonyms": [ + "FGS3" + ] + }, + { + "gard_id": "GARD:0009925", + "name": "X-linked intellectual disability with or without nystagmus", + "synonyms": [ + "FGS4", + "FG syndrome 4" + ] + }, + { + "gard_id": "GARD:0009927", + "name": "Hyperinsulinemic hypoglycemia familial 2", + "synonyms": [ + "HHF2" + ] + }, + { + "gard_id": "GARD:0009930", + "name": "Hyperinsulinemic hypoglycemia familial 3", + "synonyms": [ + "HHF3" + ] + }, + { + "gard_id": "GARD:0009931", + "name": "Hyperinsulinism-hyperammonemia syndrome", + "synonyms": [ + "Hyperinsulinism hyperammonemia syndrome", + "HA/HI syndrome", + "Hyperinsulinemic hypoglycemia familial 6" + ] + }, + { + "gard_id": "GARD:0009932", + "name": "Exercise-induced hyperinsulinemic hypoglycemia", + "synonyms": [ + "Exercise induced hyperinsulinemic hypoglycemia", + "Hyperinsulinemic hypoglycemia exercise-induced", + "Hyperinsulinemic hypoglycemia familial 7", + "HHF7" + ] + }, + { + "gard_id": "GARD:0009933", + "name": "Deafness, autosomal dominant nonsyndromic sensorineural 3", + "synonyms": [ + "DFNA3", + "Neurosensory nonsyndromic dominant deafness 1", + "NSRD1" + ] + }, + { + "gard_id": "GARD:0009934", + "name": "Deafness, autosomal dominant nonsyndromic sensorineural 53", + "synonyms": [ + "DFNA53" + ] + }, + { + "gard_id": "GARD:0009935", + "name": "Deafness, neurosensory, autosomal recessive 47", + "synonyms": [ + "DFNB47" + ] + }, + { + "gard_id": "GARD:0009936", + "name": "Hypohidrotic ectodermal dysplasia with immune deficiency", + "synonyms": [ + "HED-ID", + "Ectodermal dysplasia, hypohidrotic, with immune deficiency", + "Anhidrotic ectodermal dysplasia with immune deficiency" + ] + }, + { + "gard_id": "GARD:0009937", + "name": "Myopia 6", + "synonyms": [ + "MYP6", + "Myopia, susceptibility to" + ] + }, + { + "gard_id": "GARD:0009939", + "name": "Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features", + "synonyms": null + }, + { + "gard_id": "GARD:0009940", + "name": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome", + "synonyms": [ + "CEDNIK syndrome" + ] + }, + { + "gard_id": "GARD:0009941", + "name": "Facioscapulohumeral muscular dystrophy", + "synonyms": [ + "FSHD", + "Muscular dystrophy, facioscapulohumeral", + "Facioscapulohumeral muscular dystrophy 1A", + "FSHMD1A", + "Muscular dystrophy, facioscapulohumeral, type 1a", + "FSHD1A", + "Landouzy-Dejerine muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0009942", + "name": "Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands", + "synonyms": [ + "Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly" + ] + }, + { + "gard_id": "GARD:0009943", + "name": "Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1", + "synonyms": [ + "Amelogenesis imperfecta X-linked 1", + "AIH1", + "Enamel hypoplasia X-linked" + ] + }, + { + "gard_id": "GARD:0009944", + "name": "Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2", + "synonyms": [ + "Amelogenesis imperfecta 3, hypoplastic type (formerly)", + "AIH3 (formerly)", + "Enamel hypoplasia, X-linked" + ] + }, + { + "gard_id": "GARD:0009945", + "name": "Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", + "synonyms": null + }, + { + "gard_id": "GARD:0009946", + "name": "Arthrogryposis multiplex with deafness, inguinal hernias, and early death", + "synonyms": null + }, + { + "gard_id": "GARD:0009948", + "name": "Beriberi", + "synonyms": [ + "Vitamin B1 deficiency", + "Thiamine deficiency" + ] + }, + { + "gard_id": "GARD:0009949", + "name": "Citrulline transport defect", + "synonyms": null + }, + { + "gard_id": "GARD:0009950", + "name": "Spinocerebellar ataxia 23", + "synonyms": [ + "SCA23", + "Spinocerebellar ataxia type 23" + ] + }, + { + "gard_id": "GARD:0009951", + "name": "Spinocerebellar ataxia 28", + "synonyms": [ + "SCA28", + "Spinocerebellar ataxia type 28" + ] + }, + { + "gard_id": "GARD:0009952", + "name": "Congenital primary aphakia", + "synonyms": [ + "Aphakia, congenital primary", + "CPA" + ] + }, + { + "gard_id": "GARD:0009953", + "name": "Oligodendroglioma", + "synonyms": null + }, + { + "gard_id": "GARD:0009956", + "name": "Hutterite cerebroosteonephrodysplasia syndrome", + "synonyms": [ + "Cerebroosteonephosis syndrome", + "COND" + ] + }, + { + "gard_id": "GARD:0009957", + "name": "Hypodontia, X-linked", + "synonyms": [ + "X-linked hypodontia" + ] + }, + { + "gard_id": "GARD:0009958", + "name": "Tiglic acidemia", + "synonyms": [ + "Disorder of isoleucine metabolism" + ] + }, + { + "gard_id": "GARD:0009959", + "name": "West Nile virus encephalitis", + "synonyms": null + }, + { + "gard_id": "GARD:0009960", + "name": "Superficial spreading melanoma", + "synonyms": [ + "Low Degree of Cumulative Sun Damage Melanoma" + ] + }, + { + "gard_id": "GARD:0009961", + "name": "Nodular melanoma", + "synonyms": null + }, + { + "gard_id": "GARD:0009962", + "name": "Lentigo maligna melanoma", + "synonyms": [ + "LMM", + "Hutchison melanotic freckle" + ] + }, + { + "gard_id": "GARD:0009963", + "name": "Spinocerebellar ataxia 27", + "synonyms": [ + "SCA27", + "Spinocerebellar ataxia type 27", + "Cerebellar ataxia autosomal dominant FGF14-related" + ] + }, + { + "gard_id": "GARD:0009964", + "name": "Phosphoglycerate mutase deficiency", + "synonyms": [ + "PGAM deficiency", + "Glycogen storage disease X", + "GSDX", + "GSD10", + "Muscle phosphoglycerate mutase deficiency", + "Myopathy due to phosphoglycerate mutase deficiency", + "PGAMM deficiency" + ] + }, + { + "gard_id": "GARD:0009965", + "name": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", + "synonyms": [ + "GPI deficiency", + "Glycosylphosphatidylinositol deficiency", + "PIGM-CDG", + "Congenital disorder of glycosylation due to PIGM deficiency" + ] + }, + { + "gard_id": "GARD:0009967", + "name": "Sertoli-leydig cell tumors", + "synonyms": [ + "Arrhenoblastoma", + "Androblastoma of ovary", + "Sertoli-leydig cell tumor of the ovary", + "Arrhenoblastoma of ovary" + ] + }, + { + "gard_id": "GARD:0009968", + "name": "Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa", + "synonyms": null + }, + { + "gard_id": "GARD:0009970", + "name": "Spinocerebellar ataxia 4", + "synonyms": [ + "SCA4", + "Spinocerebellar ataxia type 4", + "Spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy" + ] + }, + { + "gard_id": "GARD:0009971", + "name": "Spinocerebellar ataxia autosomal recessive 3", + "synonyms": [ + "SCAR3", + "Spinocerebellar ataxia with blindness and deafness", + "Autosomal recessive cerebellar ataxia - blindness - deafness", + "Autosomal recessive cerebellar ataxia-blindness-deafness syndrome", + "SCABD", + "Autosomal recessive spinocerebellar ataxia type 3", + "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome", + "Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" + ] + }, + { + "gard_id": "GARD:0009972", + "name": "Congenital absence of the sternocleidomastoid muscle", + "synonyms": null + }, + { + "gard_id": "GARD:0009973", + "name": "Splenic infarcts", + "synonyms": [ + "Infarct of the spleen" + ] + }, + { + "gard_id": "GARD:0009974", + "name": "Angiosarcoma of the breast", + "synonyms": [ + "Breast angiosarcoma" + ] + }, + { + "gard_id": "GARD:0009975", + "name": "Spinocerebellar ataxia 31", + "synonyms": [ + "SCA31", + "Spinocerebellar ataxia type 31", + "Spinocerebellar ataxia 16q22-linked" + ] + }, + { + "gard_id": "GARD:0009976", + "name": "Spinocerebellar ataxia 18", + "synonyms": [ + "SCA18", + "Spinocerebellar ataxia type 18", + "Sensorimotor neuropathy with ataxia autosomal dominant", + "SMNA" + ] + }, + { + "gard_id": "GARD:0009977", + "name": "Spinocerebellar ataxia autosomal recessive 5", + "synonyms": [ + "SCAR5", + "Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities", + "CAMOS" + ] + }, + { + "gard_id": "GARD:0009978", + "name": "Spinocerebellar ataxia X-linked type 2", + "synonyms": [ + "SCAX2", + "Cerebellar ataxia with extrapyramidal involvement early-onset" + ] + }, + { + "gard_id": "GARD:0009979", + "name": "Megarbane syndrome", + "synonyms": [ + "Short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation" + ] + }, + { + "gard_id": "GARD:0009980", + "name": "Spinocerebellar ataxia X-linked type 4", + "synonyms": [ + "SCAX4", + "Ataxia-dementia syndrome X-linked" + ] + }, + { + "gard_id": "GARD:0009981", + "name": "Spinocerebellar ataxia X-linked type 3", + "synonyms": [ + "SCAX3", + "Ataxia-deafness syndrome X-linked" + ] + }, + { + "gard_id": "GARD:0009983", + "name": "Leber congenital amaurosis 5", + "synonyms": [ + "LCA5", + "Amaurosis congenita of Leber, type 5", + "Leber congenital amaurosis type 5" + ] + }, + { + "gard_id": "GARD:0009985", + "name": "Jejunal atresia with renal adysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0009986", + "name": "Severe combined immunodeficiency, atypical", + "synonyms": [ + "SCID, atypical" + ] + }, + { + "gard_id": "GARD:0009987", + "name": "Severe combined immunodeficiency with sensitivity to ionizing radiation", + "synonyms": [ + "RS-SCID", + "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" + ] + }, + { + "gard_id": "GARD:0009989", + "name": "Mandibuloacral dysplasia with type B lipodystrophy", + "synonyms": [ + "MADB", + "Lipodystrophy, type B, associated with mandibuloacral dysplasia" + ] + }, + { + "gard_id": "GARD:0009990", + "name": "Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules", + "synonyms": [ + "LDHCP" + ] + }, + { + "gard_id": "GARD:0009991", + "name": "Spondylodysplastic Ehlers-Danlos syndrome", + "synonyms": [ + "Proteodermatan sulfate, defective biosynthesis of", + "PDS, defective biosynthesis of", + "Dermatan sulfate proteoglycan", + "Xylosylprotein 4-beta-galactosyltransferase deficiency", + "XGPT deficiency", + "Galactosyltransferase 1 deficiency", + "Ehlers-Danlos syndrome, progeroid type (former)" + ] + }, + { + "gard_id": "GARD:0009992", + "name": "Midphalangeal hair", + "synonyms": [ + "Middigital hair" + ] + }, + { + "gard_id": "GARD:0009993", + "name": "Riboflavin transporter deficiency", + "synonyms": [ + "Pontobulbar palsy and neurosensory deafness", + "BVVLS", + "Pontobulbar palsy with deafness", + "Progressive bulbar palsy with sensorineural deafness", + "Brown-Vialetto-van Laere syndrome" + ] + }, + { + "gard_id": "GARD:0009994", + "name": "Clark-Baraitser syndrome", + "synonyms": [ + "Mental retardation, tall stature, obesity, macrocephaly and typical facial features" + ] + }, + { + "gard_id": "GARD:0009995", + "name": "Spinocerebellar ataxia 26", + "synonyms": [ + "SCA26", + "Spinocerebellar ataxia type 26" + ] + }, + { + "gard_id": "GARD:0009996", + "name": "Spinocerebellar ataxia 25", + "synonyms": [ + "SCA25", + "Spinocerebellar ataxia type 25" + ] + }, + { + "gard_id": "GARD:0009997", + "name": "Spinocerebellar ataxia 20", + "synonyms": [ + "SCA20", + "Spinocerebellar ataxia type 20" + ] + }, + { + "gard_id": "GARD:0009998", + "name": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", + "synonyms": [ + "SANDO" + ] + }, + { + "gard_id": "GARD:0009999", + "name": "Spinocerebellar ataxia 21", + "synonyms": [ + "SCA21", + "Spinocerebellar ataxia type 21" + ] + }, + { + "gard_id": "GARD:0010000", + "name": "Spinocerebellar ataxia autosomal recessive with axonal neuropathy", + "synonyms": [ + "SCAN1", + "Spinocerebellar ataxia with axonal neuropathy", + "Spinocerebellar ataxia with axonal neuropathy type 1" + ] + }, + { + "gard_id": "GARD:0010001", + "name": "Congenital chloride diarrhea", + "synonyms": [ + "CLD", + "Diarrhea 1, secretory chloride, congenital", + "DIAR1", + "Chloridorrhea, congenital", + "Congenital chloridorrhea", + "Darrow-Gamble disease", + "Familial chloride diarrhea" + ] + }, + { + "gard_id": "GARD:0010002", + "name": "BOR-Duane hydrocephalus contiguous gene syndrome", + "synonyms": [ + "Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome" + ] + }, + { + "gard_id": "GARD:0010003", + "name": "Pachygyria, frontotemporal", + "synonyms": [ + "Autosomal recessive frontotemporal pachygyria" + ] + }, + { + "gard_id": "GARD:0010004", + "name": "Frontotemporal dementia, ubiquitin-positive", + "synonyms": [ + "Dementia, hereditary dysphasic disinhibition", + "HDDD" + ] + }, + { + "gard_id": "GARD:0010005", + "name": "Familial progressive cardiac conduction defect", + "synonyms": [ + "Familial Lenègre disease", + "Familial Lev disease", + "Familial Lev-Lenègre disease", + "Familial PCCD", + "Familial progressive heart block", + "Progressive familial heart block", + "Hereditary bundle branch defect" + ] + }, + { + "gard_id": "GARD:0010006", + "name": "Brenner tumor of the vagina", + "synonyms": [ + "Extraovarian Brenner tumor of the vagina" + ] + }, + { + "gard_id": "GARD:0010007", + "name": "Agammaglobulinemia X-linked type 2", + "synonyms": [ + "AGMX2", + "XLA2" + ] + }, + { + "gard_id": "GARD:0010008", + "name": "Colpocephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0010009", + "name": "Opsoclonus-myoclonus syndrome", + "synonyms": [ + "Opsoclonus myoclonus syndrome", + "OMS", + "Kinsbourne syndrome", + "Ataxo-opso-myoclonus syndrome", + "Dancing eye-dancing feet syndrome", + "Dancing eye syndrome", + "OMA syndrome", + "Opsoclonus-myoclonus-ataxia syndrome", + "POMA syndrome", + "Paraneoplastic opsoclonus-myoclonus", + "Paraneoplastic opsoclonus-myoclonus-ataxia syndrome" + ] + }, + { + "gard_id": "GARD:0010010", + "name": "Transient bullous dermolysis of the newborn", + "synonyms": [ + "TBDN", + "Epidermolysis bullosa dystrophica, dominant neonatal form" + ] + }, + { + "gard_id": "GARD:0010011", + "name": "Agammaglobulinemia, microcephaly, and severe dermatitis", + "synonyms": null + }, + { + "gard_id": "GARD:0010012", + "name": "Camptodactyly, tall stature, and hearing loss syndrome", + "synonyms": [ + "CATSHL syndrome" + ] + }, + { + "gard_id": "GARD:0010013", + "name": "Red cell phospholipid defect with hemolysis", + "synonyms": [ + "High red cell phosphatidylcholine hemolytic anemia", + "HPCHA", + "Phosphatidylcholine Red cell membrane disorder", + "Leaky Red cell syndrome" + ] + }, + { + "gard_id": "GARD:0010014", + "name": "Pellagra", + "synonyms": null + }, + { + "gard_id": "GARD:0010016", + "name": "Priapism", + "synonyms": [ + "Priapism, familial idiopathic", + "Familial idiopathic priapism" + ] + }, + { + "gard_id": "GARD:0010022", + "name": "Vagina, absence of", + "synonyms": [ + "Absence of vagina" + ] + }, + { + "gard_id": "GARD:0010023", + "name": "Bruck syndrome 2", + "synonyms": [ + "BRKS2" + ] + }, + { + "gard_id": "GARD:0010024", + "name": "Whistling face syndrome, recessive form", + "synonyms": null + }, + { + "gard_id": "GARD:0010025", + "name": "Anterior segment dysgenesis", + "synonyms": [ + "Anterior segment ocular dysgenesis", + "ASOD", + "ASMD", + "FOXE3-related ocular disorder", + "Familial ocular anterior segment mesenchymal dysgenesis", + "Anterior segment mesenchymal dysgenesis", + "Anterior segment developmental anomaly" + ] + }, + { + "gard_id": "GARD:0010026", + "name": "Piriformis syndrome", + "synonyms": [ + "Hip socket neuropathy", + "Pseudosciatica", + "Wallet sciatica", + "Deep gluteal syndrome", + "Pyriformis syndrome" + ] + }, + { + "gard_id": "GARD:0010027", + "name": "Campomelic dysplasia", + "synonyms": [ + "CMPD", + "CMPD1", + "CMD1", + "CMPD1/SRA1" + ] + }, + { + "gard_id": "GARD:0010028", + "name": "Benign recurrent intrahepatic cholestasis 1", + "synonyms": [ + "BRIC1", + "Summerskill syndrome", + "Cholestasis, benign recurrent intrahepatic 1", + "Recurrent familial intrahepatic cholestasis 1", + "Mild ATP8B1 deficiency" + ] + }, + { + "gard_id": "GARD:0010029", + "name": "Benign recurrent intrahepatic cholestasis 2", + "synonyms": [ + "BRIC2", + "Cholestasis, benign recurrent intrahepatic 2", + "Recurrent familial intrahepatic cholestasis 2", + "Mild ABCB11 deficiency" + ] + }, + { + "gard_id": "GARD:0010030", + "name": "Hemorrhagic shock and encephalopathy syndrome", + "synonyms": [ + "HSES", + "Hemorrhagic shock and encephalopathy syndrome" + ] + }, + { + "gard_id": "GARD:0010031", + "name": "Sebaceous gland hyperplasia, familial presenile", + "synonyms": null + }, + { + "gard_id": "GARD:0010032", + "name": "Presenile dementia, Kraepelin type", + "synonyms": [ + "Kraepelin disease", + "Catatonia of Kraepelin" + ] + }, + { + "gard_id": "GARD:0010033", + "name": "Aneurysm, intracranial berry, 2", + "synonyms": [ + "ANIB2" + ] + }, + { + "gard_id": "GARD:0010034", + "name": "Corneal hypesthesia, familial", + "synonyms": [ + "Trigeminal anesthesia, familial", + "Familial trigeminal anesthesia" + ] + }, + { + "gard_id": "GARD:0010035", + "name": "Developmental prosopagnosia", + "synonyms": [ + "Face blindness", + "Prosopagnosia, developmental", + "Prosopagnosia, congenital", + "Prosopagnosia, hereditary", + "Hereditary prosopagnosia", + "Congenital prosopagnosia" + ] + }, + { + "gard_id": "GARD:0010036", + "name": "Autosomal dominant compelling helio ophthalmic outburst syndrome", + "synonyms": [ + "ACHOO syndrome", + "Photic sneeze reflex", + "Sneezing from light exposure", + "Peroutka sneeze" + ] + }, + { + "gard_id": "GARD:0010037", + "name": "Familial encephalopathy with neuroserpin inclusion bodies", + "synonyms": [ + "Encephalopathy, familial, with Collins bodies", + "FENIB" + ] + }, + { + "gard_id": "GARD:0010039", + "name": "Hydroxykynureninuria", + "synonyms": [ + "Xanthurenic aciduria", + "Kynureninase deficiency" + ] + }, + { + "gard_id": "GARD:0010040", + "name": "Potato nose", + "synonyms": [ + "Nose, anomalous shape of" + ] + }, + { + "gard_id": "GARD:0010041", + "name": "Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome", + "synonyms": [ + "Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance", + "Choanal atresia deafness cardiac defects dysmorphism", + "Burn-McKeown syndrome" + ] + }, + { + "gard_id": "GARD:0010043", + "name": "Usher syndrome, type 1F", + "synonyms": [ + "USH1F" + ] + }, + { + "gard_id": "GARD:0010044", + "name": "Posterior column ataxia", + "synonyms": [ + "Biemond ataxia" + ] + }, + { + "gard_id": "GARD:0010045", + "name": "Congenital bile acid synthesis defect, type 2", + "synonyms": [ + "CBAS2", + "Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" + ] + }, + { + "gard_id": "GARD:0010046", + "name": "Bile acid synthesis defect, congenital, 4", + "synonyms": [ + "CBAS4", + "Cholestasis, intrahepatic, with defective conversion of", + "Trihydroxycoprostanic acid to cholic acid", + "Trihydroxycoprostanic acid in bile" + ] + }, + { + "gard_id": "GARD:0010047", + "name": "Glutathione synthetase deficiency", + "synonyms": [ + "5-Oxoprolinuria", + "Oxoprolinase deficiency", + "Pyroglutamic aciduria", + "Pyroglutamicaciduria" + ] + }, + { + "gard_id": "GARD:0010049", + "name": "Choroidal dystrophy central areolar", + "synonyms": [ + "Central areolar choroidal dystrophy" + ] + }, + { + "gard_id": "GARD:0010050", + "name": "Bietti crystalline corneoretinal dystrophy", + "synonyms": [ + "BCD", + "Bietti tapetoretinal degeneration with marginal corneal dystrophy" + ] + }, + { + "gard_id": "GARD:0010051", + "name": "Limb-mammary syndrome", + "synonyms": [ + "LMS", + "Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" + ] + }, + { + "gard_id": "GARD:0010052", + "name": "Devriendt syndrome", + "synonyms": [ + "Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism" + ] + }, + { + "gard_id": "GARD:0010053", + "name": "Lipomyelomeningocele", + "synonyms": [ + "Familial lipomyelomeningocele" + ] + }, + { + "gard_id": "GARD:0010054", + "name": "Al Gazali syndrome", + "synonyms": [ + "Al Gazali Al Talabani syndrome", + "Eye defects arachnodactyly cardiopathy" + ] + }, + { + "gard_id": "GARD:0010055", + "name": "Holoprosencephaly, recurrent infections, and monocytosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010056", + "name": "Mandibulofacial dysostosis with microcephaly", + "synonyms": [ + "Mandibulofacial dysostosis, Guion-Almeida type", + "MFDGA", + "MFDM", + "Mandibulofacial dysostosis-microcephaly syndrome", + "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate", + "MFDM syndrome", + "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome" + ] + }, + { + "gard_id": "GARD:0010057", + "name": "Spondyloepimetaphyseal dysplasia Genevieve type", + "synonyms": [ + "SEMD Genevieve type" + ] + }, + { + "gard_id": "GARD:0010058", + "name": "Iridogoniodysgenesis and skeletal anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0010059", + "name": "Dystelephalangy", + "synonyms": [ + "Kirner deformity", + "Congenital bilateral metadiaphyseal acrodysplasia of the little finger" + ] + }, + { + "gard_id": "GARD:0010061", + "name": "Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals", + "synonyms": null + }, + { + "gard_id": "GARD:0010062", + "name": "Talonavicular coalition", + "synonyms": null + }, + { + "gard_id": "GARD:0010063", + "name": "Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss", + "synonyms": null + }, + { + "gard_id": "GARD:0010064", + "name": "Mental retardation, keratoconus, febrile seizures, and sinoatrial block", + "synonyms": null + }, + { + "gard_id": "GARD:0010065", + "name": "Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema", + "synonyms": [ + "LACH" + ] + }, + { + "gard_id": "GARD:0010066", + "name": "Metaphyseal undermodeling, spondylar dysplasia, and overgrowth", + "synonyms": null + }, + { + "gard_id": "GARD:0010067", + "name": "Lateral semicircular canal malformation, familial, with external and middle ear abnormalities", + "synonyms": null + }, + { + "gard_id": "GARD:0010068", + "name": "Taurodontism, microdontia, and dens invaginatus", + "synonyms": null + }, + { + "gard_id": "GARD:0010069", + "name": "Dens in dente and palatal invaginations", + "synonyms": null + }, + { + "gard_id": "GARD:0010070", + "name": "Subependymoma", + "synonyms": [ + "Subependymal astrocytoma (formerly)" + ] + }, + { + "gard_id": "GARD:0010071", + "name": "Pulmonic stenosis", + "synonyms": [ + "Valvular pulmonic stenosis" + ] + }, + { + "gard_id": "GARD:0010072", + "name": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma", + "synonyms": [ + "DMSMFH", + "Bone dysplasia with medullary fibrosarcoma", + "BDMF", + "Bone dysplasia with malignant fibrous histiocytoma" + ] + }, + { + "gard_id": "GARD:0010073", + "name": "Cerebral sarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010076", + "name": "Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0010077", + "name": "Chondrodysplasia acromesomelic with genital anomalies", + "synonyms": null + }, + { + "gard_id": "GARD:0010078", + "name": "Crumpled helices and small mouth", + "synonyms": [ + "Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay" + ] + }, + { + "gard_id": "GARD:0010079", + "name": "Hydroa vacciniforme, familial", + "synonyms": [ + "Familial hydroa vacciniforme" + ] + }, + { + "gard_id": "GARD:0010080", + "name": "Catatrichy", + "synonyms": [ + "Forelock" + ] + }, + { + "gard_id": "GARD:0010081", + "name": "White forelock with malformations", + "synonyms": null + }, + { + "gard_id": "GARD:0010082", + "name": "Osteopetrosis and infantile neuroaxonal dystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0010083", + "name": "Hepatic venoocclusive disease with immunodeficiency", + "synonyms": [ + "VODI" + ] + }, + { + "gard_id": "GARD:0010084", + "name": "Hemifacial myohyperplasia", + "synonyms": [ + "Hypertrophy and asymmetry of the facial muscles" + ] + }, + { + "gard_id": "GARD:0010085", + "name": "Klebsiella infection", + "synonyms": [ + "Klebsiella" + ] + }, + { + "gard_id": "GARD:0010086", + "name": "Neuropathy, congenital, with arthrogryposis multiplex", + "synonyms": [ + "Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex" + ] + }, + { + "gard_id": "GARD:0010087", + "name": "Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies", + "synonyms": [ + "Chitayat-Hall syndrome" + ] + }, + { + "gard_id": "GARD:0010088", + "name": "Majeed syndrome", + "synonyms": [ + "Chronic recurrent multifocal osteomyelitis, congenital", + "Dyserythropoietic anemia, and neutrophilic dermatosis", + "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis", + "CDA and CRMO" + ] + }, + { + "gard_id": "GARD:0010089", + "name": "TARP syndrome", + "synonyms": [ + "Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava", + "TARPS", + "Pierre Robin syndrome with congenital heart malformation and clubfoot", + "Pierre Robin sequence - congenital heart defect - talipes", + "Pierre Robin syndrome - congenital heart defect - talipes", + "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava", + "Pierre Robin sequence-congenital heart defect-talipes syndrome", + "Pierre Robin syndrome-congenital heart defect-talipes syndrome", + "Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" + ] + }, + { + "gard_id": "GARD:0010090", + "name": "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies", + "synonyms": [ + "Skeletal dysplasia related to campomelic dysplasia", + "Campomelic dysplasia, mild" + ] + }, + { + "gard_id": "GARD:0010091", + "name": "Sotos syndrome", + "synonyms": [ + "Cerebral gigantism", + "Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" + ] + }, + { + "gard_id": "GARD:0010092", + "name": "Hemochromatosis type 2", + "synonyms": [ + "Juvenile hemochromatosis", + "Hemochromatosis juvenile", + "Iron overload disease juvenile", + "Juvenile hereditary hemochromatosis" + ] + }, + { + "gard_id": "GARD:0010093", + "name": "Hemochromatosis type 3", + "synonyms": [ + "Hemochromatosis due to defect in transferrin receptor 2", + "HFE3", + "TFR2-related hereditary hemochromatosis" + ] + }, + { + "gard_id": "GARD:0010094", + "name": "Hemochromatosis type 4", + "synonyms": [ + "HFE4", + "Hemochromatosis, autosomal dominant", + "Hemochromatosis due to defect in ferroportin", + "Autosomal dominant hereditary hemochromatosis", + "Ferroportin disease" + ] + }, + { + "gard_id": "GARD:0010096", + "name": "Hereditary leiomyomatosis and renal cell cancer", + "synonyms": [ + "LRCC", + "HLRCC", + "Multiple cutaneous and uterine leiomyomata", + "MCUL", + "Reed's syndrome", + "Multiple cutaneous leiomyomata", + "MCL", + "Familial leiomyomatosis and renal cell cancer", + "Familial leiomyomatosis cutis et uteri", + "Familial leiomyomatosis with renal carcinoma", + "Familial multiple cutaneous leiomyomas" + ] + }, + { + "gard_id": "GARD:0010097", + "name": "Leiomyoma of vulva and esophagus", + "synonyms": [ + "Leiomyomatosis, esophagogastric and vulvar", + "Esophagogastric and vulvar leiomyomatosis" + ] + }, + { + "gard_id": "GARD:0010099", + "name": "Glutathionuria", + "synonyms": [ + "Gamma-glutamyltranspeptidase deficiency", + "GGT deficiency", + "GGT1 deficiency", + "GTG deficiency", + "Gamma-glutamyltransferase deficiency" + ] + }, + { + "gard_id": "GARD:0010100", + "name": "Tietze syndrome", + "synonyms": [ + "Tietze's syndrome", + "Chondropathia tuberosa", + "Costochondral junction syndrome" + ] + }, + { + "gard_id": "GARD:0010101", + "name": "Spondyloepimetaphyseal dysplasia with hypotrichosis", + "synonyms": [ + "Whyte syndrome", + "Whyte Petersen McAlister syndrome" + ] + }, + { + "gard_id": "GARD:0010103", + "name": "Elastosis perforans serpiginosa", + "synonyms": [ + "EPS", + "Elastoma intrapapillare perforans verruciformis", + "Miescher elastoma" + ] + }, + { + "gard_id": "GARD:0010104", + "name": "Pseudoxanthoma elasticum, forme fruste", + "synonyms": null + }, + { + "gard_id": "GARD:0010106", + "name": "Osteopetrosis autosomal recessive 7", + "synonyms": [ + "OPTB7", + "Autosomal recessive osteopetrosis type 7", + "Osteopetrosis osteoclast-poor with hypogammaglobulinemia", + "Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" + ] + }, + { + "gard_id": "GARD:0010107", + "name": "Tetralogy of fallot and glaucoma", + "synonyms": [ + "Familial tetralogy of fallot and glaucoma" + ] + }, + { + "gard_id": "GARD:0010108", + "name": "Congenital myasthenic syndrome associated with acetylcholine receptor deficiency", + "synonyms": [ + "Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency" + ] + }, + { + "gard_id": "GARD:0010109", + "name": "Cornelia de Lange syndrome", + "synonyms": [ + "Brachmann de Lange syndrome", + "CDLS", + "De Lange syndrome", + "Typus degenerativus amstelodamensis" + ] + }, + { + "gard_id": "GARD:0010115", + "name": "Hyperostosis-hyperphosphatemia syndrome", + "synonyms": [ + "HHS", + "Hyperostosis with hyperphosphatemia", + "Cortical hyperostosis with hyperphosphatemia" + ] + }, + { + "gard_id": "GARD:0010116", + "name": "Ichthyosis with hypotrichosis, autosomal recessive", + "synonyms": [ + "ARIH", + "Autosomal recessive ichthyosis with hypotrichosis" + ] + }, + { + "gard_id": "GARD:0010117", + "name": "Retinal cone dystrophy 2", + "synonyms": [ + "RCD2", + "Progressive cone degeneration", + "Cone dystrophy progressive" + ] + }, + { + "gard_id": "GARD:0010118", + "name": "Oguchi disease", + "synonyms": [ + "Stationary night blindness, Oguchi type" + ] + }, + { + "gard_id": "GARD:0010119", + "name": "Cone dystrophy X-linked with tapetal-like sheen", + "synonyms": [ + "X-linked recessive cone dystrophy with tapetal-like sheen" + ] + }, + { + "gard_id": "GARD:0010120", + "name": "Macular dystrophy, atypical vitelliform", + "synonyms": [ + "VMD1", + "Vitelliform macular dystrophy, atypical" + ] + }, + { + "gard_id": "GARD:0010121", + "name": "MORM syndrome", + "synonyms": [ + "Mental retardation, truncal obesity, retinal dystrophy and micropenis" + ] + }, + { + "gard_id": "GARD:0010123", + "name": "Progressive bifocal chorioretinal atrophy", + "synonyms": [ + "Chorioretinal atrophy, progressive bifocal", + "PBCRA", + "CRAPB" + ] + }, + { + "gard_id": "GARD:0010125", + "name": "Agnathia-microstomia-synotia", + "synonyms": [ + "Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment", + "Plurimalformative syndrome" + ] + }, + { + "gard_id": "GARD:0010126", + "name": "GM1 gangliosidosis type 2", + "synonyms": [ + "Gangliosidosis generalized GM1 type 2", + "Gangliosidosis generalized GM1 juvenile type" + ] + }, + { + "gard_id": "GARD:0010127", + "name": "Fertile eunuch syndrome", + "synonyms": [ + "Eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)" + ] + }, + { + "gard_id": "GARD:0010128", + "name": "Follicle-stimulating hormone deficiency, isolated", + "synonyms": [ + "Isolated follicle-stimulating hormone (FSH) deficiency", + "Isolated FSH deficiency" + ] + }, + { + "gard_id": "GARD:0010129", + "name": "Thyrotropin deficiency, isolated", + "synonyms": [ + "Thyroid-stimulating hormone, deficiency of", + "TSH deficiency", + "Pituitary cretinism" + ] + }, + { + "gard_id": "GARD:0010130", + "name": "22q13.3 deletion syndrome", + "synonyms": [ + "Phelan-McDermid syndrome", + "Deletion 22q13.3 syndrome", + "Chromosome 22q13.3 deletion syndrome", + "Monosomy 22q13", + "22q13 deletion", + "22q13.3 deletion", + "Monosomy 22q13.3" + ] + }, + { + "gard_id": "GARD:0010131", + "name": "Neuropathy, hereditary motor and sensory, Okinawa type", + "synonyms": [ + "HMSNO", + "HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE", + "HMSNP" + ] + }, + { + "gard_id": "GARD:0010132", + "name": "Neuropathy, hereditary motor and sensory, Russe type", + "synonyms": [ + "Hereditary motor and sensory neuropathy, Russe type", + "HMSNR", + "Charcot-Marie-Tooth disease, type 4g", + "CMT4G", + "Charcot-Marie-Tooth disease, autosomal recessive, type 4g" + ] + }, + { + "gard_id": "GARD:0010133", + "name": "Neuropathy, distal hereditary motor, Jerash type", + "synonyms": [ + "MNDJ", + "Hereditary motor neuropathy, Jerash type", + "HMNJ", + "Motor neuropathy, distal, Jerash type", + "Spinal muscular atrophy, Jerash type" + ] + }, + { + "gard_id": "GARD:0010134", + "name": "Camptodactyly-ichthyosis syndrome", + "synonyms": [ + "Camptodactyly ichthyosis syndrome" + ] + }, + { + "gard_id": "GARD:0010138", + "name": "DYT-TUBB4A", + "synonyms": [ + "DYT4", + "Dystonia musculorum deformans 4", + "Whispering dysphonia", + "Hereditary whispering dysphonia", + "Autosomal dominant torsion dystonia-4" + ] + }, + { + "gard_id": "GARD:0010139", + "name": "Chondrocalcinosis due to apatite crystal deposition", + "synonyms": [ + "Familial apatite disease" + ] + }, + { + "gard_id": "GARD:0010140", + "name": "Bohring-Opitz syndrome", + "synonyms": [ + "Opitz trigonocephaly-like syndrome", + "Bohring syndrome", + "BOS syndrome", + "C-like syndrome" + ] + }, + { + "gard_id": "GARD:0010141", + "name": "Myelocytic leukemia-like syndrome, familial, chronic", + "synonyms": [ + "CML-like syndrome, familial" + ] + }, + { + "gard_id": "GARD:0010142", + "name": "Osteogenesis imperfecta type II", + "synonyms": [ + "Osteogenesis imperfecta congenita perinatal lethal form", + "Osteogenesis imperfecta congenita", + "Vrolik type of osteogenesis imperfecta", + "Lethal osteogenesis imperfecta", + "Perinatally lethal OI", + "OI type 2", + "Osteogenesis imperfecta type 2" + ] + }, + { + "gard_id": "GARD:0010144", + "name": "Dentinogenesis imperfecta type 3", + "synonyms": [ + "Dentinogenesis imperfecta type III", + "Brandywine type dentinogenesis imperfecta", + "Dentinogenesis imperfecta Shields type 3", + "Dentinogenesis imperfecta, Shields type 3" + ] + }, + { + "gard_id": "GARD:0010145", + "name": "Potocki-Lupski syndrome", + "synonyms": [ + "PTLS", + "Duplication 17p11.2 syndrome", + "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" + ] + }, + { + "gard_id": "GARD:0010146", + "name": "Anomalous origin of right pulmonary artery familial", + "synonyms": [ + "Familial anomalous origin of right pulmonary artery", + "Familial ARPA", + "ARPA familial" + ] + }, + { + "gard_id": "GARD:0010147", + "name": "Branchiootorenal syndrome", + "synonyms": [ + "Branchiootorenal dysplasia", + "Melnick-Fraser syndrome", + "Branchio oto renal syndrome", + "BOR syndrome" + ] + }, + { + "gard_id": "GARD:0010148", + "name": "Branchiootic syndrome", + "synonyms": [ + "BOS1", + "BO syndrome 1", + "Branchiootic dysplasia" + ] + }, + { + "gard_id": "GARD:0010149", + "name": "Kyphomelic dysplasia", + "synonyms": [ + "Bowing, congenital, with short bones", + "Congenital bowing with short bones" + ] + }, + { + "gard_id": "GARD:0010150", + "name": "Idiopathic subglottic tracheal stenosis", + "synonyms": [ + "Idiopathic subglottic stenosis" + ] + }, + { + "gard_id": "GARD:0010152", + "name": "Osteogenesis imperfecta type VIII", + "synonyms": [ + "OI type VIII", + "OI8", + "Osteogenesis imperfecta type 8" + ] + }, + { + "gard_id": "GARD:0010153", + "name": "Pulmonary venoocclusive disease", + "synonyms": [ + "PVOD", + "Obstructive disease of the pulmonary veins" + ] + }, + { + "gard_id": "GARD:0010155", + "name": "Fetal macrosomia", + "synonyms": null + }, + { + "gard_id": "GARD:0010156", + "name": "Chylothorax, congenital", + "synonyms": null + }, + { + "gard_id": "GARD:0010161", + "name": "Onychotrichodysplasia and neutropenia", + "synonyms": null + }, + { + "gard_id": "GARD:0010162", + "name": "Papillary cystadenocarcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010163", + "name": "Curly hair-acral keratoderma-caries syndrome", + "synonyms": [ + "CHACS" + ] + }, + { + "gard_id": "GARD:0010164", + "name": "Plagiocephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0010165", + "name": "Nonseminomatous germ cell tumor", + "synonyms": [ + "NSGCT", + "Non-seminomatous germ-cell tumors" + ] + }, + { + "gard_id": "GARD:0010166", + "name": "Cerebrospinal fluid leak", + "synonyms": [ + "CSF leak", + "CSF rhinorrhea", + "CSF otorrhea", + "Spinal CSF leak" + ] + }, + { + "gard_id": "GARD:0010167", + "name": "Joubert syndrome 2", + "synonyms": [ + "JBTS2", + "Cerebellooculorenal syndrome 2", + "CORS2" + ] + }, + { + "gard_id": "GARD:0010168", + "name": "Joubert syndrome with ocular anomalies", + "synonyms": [ + "Joubert syndrome 3", + "JBTS3" + ] + }, + { + "gard_id": "GARD:0010169", + "name": "Joubert syndrome with renal anomalies", + "synonyms": [ + "Joubert syndrome 4", + "JBTS4" + ] + }, + { + "gard_id": "GARD:0010173", + "name": "Florid cemento-osseous dysplasia", + "synonyms": [ + "florid osseous dysplasia", + "focal cemento-osseous dysplasia" + ] + }, + { + "gard_id": "GARD:0010174", + "name": "Florid papillomatosis of the nipple", + "synonyms": [ + "Papillomatosis florid of nipple", + "Florid papillomatosis", + "Erosive adenomatosis of the nipple" + ] + }, + { + "gard_id": "GARD:0010175", + "name": "Klatskin tumor", + "synonyms": [ + "Klatskin's tumor", + "Perihilar cholangiocarcinoma" + ] + }, + { + "gard_id": "GARD:0010176", + "name": "Mastocytic enterocolitis", + "synonyms": null + }, + { + "gard_id": "GARD:0010177", + "name": "Mirizzi syndrome", + "synonyms": [ + "Mirizzi's syndrome" + ] + }, + { + "gard_id": "GARD:0010178", + "name": "Weyers ulnar ray/oligodactyly syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010179", + "name": "CYLD cutaneous syndrome", + "synonyms": [ + "BRSS", + "Spiegler-Brooke syndrome", + "SBS", + "Ancell-Spiegler cylindromas", + "Brooke-Spiegler syndrome", + "Familial cylindromatosis", + "Multiple familial trichoepitheliomas" + ] + }, + { + "gard_id": "GARD:0010181", + "name": "Epithelioid sarcoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010182", + "name": "Hereditary antithrombin deficiency type 2", + "synonyms": [ + "Antithrombin deficiency type 2", + "Antithrombmin III deficiency Type II", + "Inherited antithrombin deficiency type II" + ] + }, + { + "gard_id": "GARD:0010183", + "name": "Hemoglobin Zurich", + "synonyms": [ + "Hb-Zurich" + ] + }, + { + "gard_id": "GARD:0010184", + "name": "Pseudohyperkalemia Cardiff", + "synonyms": [ + "Stomatocytosis, cold-sensitive", + "Cryohydrocytosis" + ] + }, + { + "gard_id": "GARD:0010185", + "name": "Chester porphyria", + "synonyms": [ + "Porphyria, Chester type", + "PORC" + ] + }, + { + "gard_id": "GARD:0010186", + "name": "Urachal adenocarcinoma", + "synonyms": [ + "Adenocarcinoma of the urachus" + ] + }, + { + "gard_id": "GARD:0010188", + "name": "Angioma serpiginosum", + "synonyms": null + }, + { + "gard_id": "GARD:0010190", + "name": "Focal cortical dysplasia of Taylor", + "synonyms": [ + "FCDT", + "Cortical dysplasia of Taylor", + "CDT", + "Focal cortical dysplasia type 2", + "Focal cortical dysplasia type II" + ] + }, + { + "gard_id": "GARD:0010191", + "name": "Status epilepticus", + "synonyms": [ + "SE", + "Generalized convulsive status epilepticus", + "GCSE" + ] + }, + { + "gard_id": "GARD:0010192", + "name": "True thymic hyperplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0010193", + "name": "Subcutaneous panniculitis-like T-cell lymphoma", + "synonyms": [ + "SPTCL" + ] + }, + { + "gard_id": "GARD:0010194", + "name": "Acromegaloid features, overgrowth, cleft palate and hernia", + "synonyms": [ + "AOCH" + ] + }, + { + "gard_id": "GARD:0010195", + "name": "Faciomandibular myoclonus, nocturnal", + "synonyms": [ + "Nocturnal facio-mandibular myoclonus" + ] + }, + { + "gard_id": "GARD:0010198", + "name": "Immunoglobulin A deficiency 2", + "synonyms": [ + "IGAD2", + "Immunoglobulin A, selective deficiency of, TACI related", + "IgA, selective deficiency of, TACI related" + ] + }, + { + "gard_id": "GARD:0010199", + "name": "Optic atrophy 2", + "synonyms": [ + "OPA2", + "Optic atrophy, X-linked", + "Optic atrophy, non-Leber type, with early onset" + ] + }, + { + "gard_id": "GARD:0010200", + "name": "Optic atrophy 6", + "synonyms": [ + "OPA6", + "Optic atrophy, congenital or early infantile, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0010201", + "name": "Optic atrophy 5", + "synonyms": null + }, + { + "gard_id": "GARD:0010202", + "name": "2q37 deletion syndrome", + "synonyms": [ + "Chromosome 2q37 deletion syndrome", + "Albright hereditary osteodystrophy-like syndrome", + "Brachydactyly-Intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0010203", + "name": "Autosomal dominant optic atrophy and cataract", + "synonyms": [ + "Optic atrophy, cataract, and neurologic disorder", + "Optic atrophy 3", + "OPA3", + "Optic atrophy 3 with cataract", + "Autosomal dominant optic atrophy type 3", + "OPA3, autosomal dominant" + ] + }, + { + "gard_id": "GARD:0010204", + "name": "Bardet-Biedl syndrome 5", + "synonyms": null + }, + { + "gard_id": "GARD:0010205", + "name": "Bardet-Biedl syndrome 6", + "synonyms": null + }, + { + "gard_id": "GARD:0010206", + "name": "Bardet-Biedl syndrome 7", + "synonyms": null + }, + { + "gard_id": "GARD:0010207", + "name": "Bardet-Biedl syndrome 8", + "synonyms": null + }, + { + "gard_id": "GARD:0010208", + "name": "Bardet-Biedl syndrome 9", + "synonyms": null + }, + { + "gard_id": "GARD:0010209", + "name": "Bardet-Biedl syndrome 10", + "synonyms": [ + "BBS10", + "Bardet-Biedl syndrome", + "BBS" + ] + }, + { + "gard_id": "GARD:0010210", + "name": "Bardet-Biedl syndrome 11", + "synonyms": [ + "BBS11", + "Bardet-Biedl syndrome", + "BBS" + ] + }, + { + "gard_id": "GARD:0010211", + "name": "Bardet-Biedl syndrome 12", + "synonyms": [ + "BBS12", + "Bardet-Biedl syndrome", + "BBS" + ] + }, + { + "gard_id": "GARD:0010212", + "name": "Congenital generalized lipodystrophy type 2", + "synonyms": [ + "Berardinelli Seip congenital lipodystrophy type 2", + "Berardinelli syndrome", + "Total lipodystrophy and acromegaloid gigantism", + "BSCL2-Related Brunzell syndrome" + ] + }, + { + "gard_id": "GARD:0010214", + "name": "Neonatal intrahepatic cholestasis caused by citrin deficiency", + "synonyms": [ + "NICCD", + "Neonatal-onset citrullinemia type II", + "Citrin deficiency", + "Neonatal-onset citrullinemia type 2" + ] + }, + { + "gard_id": "GARD:0010215", + "name": "Citrullinemia type II", + "synonyms": [ + "Citrullinemia type 2", + "Adult-onset citrullinemia type 2", + "CTLN2", + "Citrin deficiency", + "Adult-onset citrullinemia type II", + "Adult-onset citrin deficiency", + "Adult-onset type II citrullinemia," + ] + }, + { + "gard_id": "GARD:0010216", + "name": "Microhydranencephaly", + "synonyms": [ + "MHAC", + "Hydranencephaly and microcephaly" + ] + }, + { + "gard_id": "GARD:0010219", + "name": "Tonoki syndrome", + "synonyms": [ + "Short stature, brachydactyly, nail dysplasia and mental retardation" + ] + }, + { + "gard_id": "GARD:0010220", + "name": "Czech dysplasia metatarsal type", + "synonyms": [ + "Pseudorheumatoid dysplasia progressive, with hypoplastic toes" + ] + }, + { + "gard_id": "GARD:0010221", + "name": "Maturity-onset diabetes of the young, type 5", + "synonyms": [ + "MODY5", + "MODY type 5", + "Renal cysts and diabetes syndrome", + "RCAD", + "Hyperuricemic nephropathy, familial juvenile, atypical", + "FJHN atypical", + "Glomerulocystic kidney disease, hypoplastic type", + "Glomerulocystic kidney, familial hypoplastic" + ] + }, + { + "gard_id": "GARD:0010222", + "name": "Cataracts, ataxia, short stature, and mental retardation", + "synonyms": [ + "CASM syndrome" + ] + }, + { + "gard_id": "GARD:0010223", + "name": "Isobutyryl-CoA dehydrogenase deficiency", + "synonyms": [ + "IBD deficiency", + "ACAD8 deficiency", + "Acyl-CoaA dehydrogenase family, member 8, deficiency of" + ] + }, + { + "gard_id": "GARD:0010224", + "name": "Mucormycosis", + "synonyms": [ + "Zygomycosis" + ] + }, + { + "gard_id": "GARD:0010225", + "name": "Multiple endocrine neoplasia type 2B", + "synonyms": [ + "MEN 2B", + "Mucosal neuroma syndrome", + "Multiple endocrine neoplasia, type 3 (formerly)", + "Wagenmann-froboese syndrome" + ] + }, + { + "gard_id": "GARD:0010226", + "name": "COG1-CDG (CDG-IIg)", + "synonyms": [ + "CDG2G", + "CDG 2G", + "Congenital disorder of glycosylation, type IIg", + "CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME", + "Congenital disorder of glycosylation type IIg", + "Congenital disorder of glycosylation type 2G", + "CDG syndrome type IIg", + "Carbohydrate deficient glycoprotein syndrome type IIg", + "CDG-IIg", + "COG1-CDG" + ] + }, + { + "gard_id": "GARD:0010227", + "name": "Cataract, posterior polar, 3", + "synonyms": [ + "CTPP3" + ] + }, + { + "gard_id": "GARD:0010228", + "name": "Cataract, posterior polar, 4", + "synonyms": [ + "CTPP4", + "CPP4", + "Posterior polar cataract, 4" + ] + }, + { + "gard_id": "GARD:0010229", + "name": "Limb-girdle muscular dystrophy type 1A", + "synonyms": [ + "LGMD1A", + "Muscular dystrophy, proximal, type 1A", + "LGMD1" + ] + }, + { + "gard_id": "GARD:0010230", + "name": "Limb-girdle muscular dystrophy type 1B", + "synonyms": [ + "LGMD1B", + "Muscular dystrophy, proximal, type 1B" + ] + }, + { + "gard_id": "GARD:0010234", + "name": "Cataract, posterior polar, 1", + "synonyms": [ + "CTPP1", + "CTPP", + "CTPA", + "Posterior polar cataract, 1" + ] + }, + { + "gard_id": "GARD:0010236", + "name": "Cataract, posterior polar, 5", + "synonyms": [ + "CTPP5" + ] + }, + { + "gard_id": "GARD:0010237", + "name": "Biotin-thiamine-responsive basal ganglia disease", + "synonyms": [ + "Biotin-responsive basal ganglia disease", + "BBGD" + ] + }, + { + "gard_id": "GARD:0010238", + "name": "Myostatin-related muscle hypertrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0010239", + "name": "Histiocytosis-lymphadenopathy plus syndrome", + "synonyms": [ + "HJCD", + "Faisalabad histiocytosis", + "H syndrome", + "Histiocytosis with joint contractures and sensorineural deafness", + "SLC29A3 spectrum disorder" + ] + }, + { + "gard_id": "GARD:0010240", + "name": "CoQ-responsive OXPHOS deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0010241", + "name": "Diamond-Blackfan anemia 3", + "synonyms": [ + "DBA3", + "Anemia Diamond-Blackfan 3" + ] + }, + { + "gard_id": "GARD:0010244", + "name": "Lipase deficiency combined", + "synonyms": [ + "Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency", + "LPL and HTGL deficiency", + "LPL and HL deficiency" + ] + }, + { + "gard_id": "GARD:0010263", + "name": "Hydatidiform mole", + "synonyms": [ + "HYDM", + "Hydatid mole", + "Molar pregnancy" + ] + }, + { + "gard_id": "GARD:0010264", + "name": "Spinal meningioma", + "synonyms": [ + "Meningioma, spine" + ] + }, + { + "gard_id": "GARD:0010265", + "name": "Pityriasis lichenoides", + "synonyms": null + }, + { + "gard_id": "GARD:0010266", + "name": "Hereditary cerebral hemorrhage with amyloidosis", + "synonyms": [ + "Cerebral amyloid angiopathy", + "HCHWA", + "CAA, familial", + "Cerebral amyloid angiopathy, familial", + "cerebral amyloid angiopathy, genetic" + ] + }, + { + "gard_id": "GARD:0010267", + "name": "Hyperbetaalaninemia", + "synonyms": [ + "Hyperalaninemia", + "Hyper-beta-alaninemia" + ] + }, + { + "gard_id": "GARD:0010269", + "name": "Pancreatitis, pediatric", + "synonyms": null + }, + { + "gard_id": "GARD:0010270", + "name": "Restless legs syndrome, susceptibility to, 3", + "synonyms": [ + "RLS3" + ] + }, + { + "gard_id": "GARD:0010271", + "name": "Restless legs syndrome, susceptibility to, 4", + "synonyms": [ + "RLS 4" + ] + }, + { + "gard_id": "GARD:0010272", + "name": "Restless legs syndrome, susceptibility to, 5", + "synonyms": [ + "RLS 5" + ] + }, + { + "gard_id": "GARD:0010273", + "name": "Restless legs syndrome, susceptibility to, 6", + "synonyms": [ + "RLS6", + "Periodic limb movements in sleep" + ] + }, + { + "gard_id": "GARD:0010276", + "name": "Windblown hand", + "synonyms": [ + "Congenital ulnar drift", + "Windswept hand", + "Congenital contractures of the digits" + ] + }, + { + "gard_id": "GARD:0010277", + "name": "Clasped thumbs, congenital", + "synonyms": [ + "Adducted thumbs syndrome" + ] + }, + { + "gard_id": "GARD:0010278", + "name": "Aquagenic pruritus", + "synonyms": null + }, + { + "gard_id": "GARD:0010280", + "name": "Klippel Feil syndrome", + "synonyms": [ + "Cervical vertebral fusion" + ] + }, + { + "gard_id": "GARD:0010282", + "name": "Lin-Gettig syndrome", + "synonyms": [ + "Craniosynostosis-intellectual disability syndrome of Lin and Gettig" + ] + }, + { + "gard_id": "GARD:0010283", + "name": "Desmosterolosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010285", + "name": "Periventricular leukomalacia", + "synonyms": [ + "PVL" + ] + }, + { + "gard_id": "GARD:0010287", + "name": "Benign rolandic epilepsy (BRE)", + "synonyms": [ + "Benign rolandic epilepsy of childhood (BREC)", + "Benign epilepsy with centro-temporal spikes (BECTS)", + "Benign epilepsy of childhood with centrotemporal spikes (BECCT)" + ] + }, + { + "gard_id": "GARD:0010288", + "name": "Neutral lipid storage disease with myopathy", + "synonyms": [ + "NLSDM", + "Neutral lipid storage disease without ichthyosis" + ] + }, + { + "gard_id": "GARD:0010289", + "name": "Krabbe disease atypical due to Saposin A deficiency", + "synonyms": [ + "Saposin A deficiency" + ] + }, + { + "gard_id": "GARD:0010290", + "name": "Cortical defects wormian bones and dentinogenesis imperfecta", + "synonyms": null + }, + { + "gard_id": "GARD:0010291", + "name": "Linear nevus sebaceous syndrome", + "synonyms": [ + "Schimmelpenning Feuerstein Mims syndrome", + "Sebaceous nevus syndrome linear", + "SFM syndrome", + "Jadassohn nevus phakomatosis", + "JNP", + "Nevus sebaceus of Jadassohn", + "Organoid nevus phakomatosis" + ] + }, + { + "gard_id": "GARD:0010294", + "name": "Autosomal recessive spinocerebellar ataxia 9", + "synonyms": [ + "Autosomal recessive ataxia due to ubiquinone deficiency", + "ARCA2", + "Autosomal recessive ataxia due to coenzyme Q10 deficiency", + "Autosomal recessive cerebellar ataxia type 2", + "Autosomal recessive spinocerebellar ataxia type 9", + "SCAR9" + ] + }, + { + "gard_id": "GARD:0010295", + "name": "STAR syndrome", + "synonyms": [ + "Syndactyly, telecanthus, anogenital and renal malformations", + "Toe syndactyly, telecanthus, anogenital and renal malformations" + ] + }, + { + "gard_id": "GARD:0010296", + "name": "15q13.3 microdeletion syndrome", + "synonyms": [ + "Chromosome 15q13.3 deletion syndrome", + "Microdeletion 15q13.3 syndrome", + "Chromosome 15q13.3 microdeletion syndrome", + "15q13.3 microdeletion" + ] + }, + { + "gard_id": "GARD:0010297", + "name": "Ghosal hematodiaphyseal dysplasia syndrome", + "synonyms": [ + "GHDD", + "Ghosal hematodiaphyseal dysplasia", + "Ghosal syndrome" + ] + }, + { + "gard_id": "GARD:0010299", + "name": "22q11.2 deletion syndrome", + "synonyms": [ + "Chromosome 22q11.2 deletion syndrome", + "Velocardiofacial syndrome", + "VCFS", + "DiGeorge syndrome", + "Shprintzen syndrome", + "Sedlackova syndrome", + "CATCH22", + "Autosomal dominant Opitz G/BBB syndrome", + "Conotruncal anomaly face syndrome", + "Cayler cardiofacial syndrome" + ] + }, + { + "gard_id": "GARD:0010300", + "name": "Microtia eye coloboma and imperforation of the nasolacrimal duct", + "synonyms": [ + "Balikova-Vermeesch syndrome" + ] + }, + { + "gard_id": "GARD:0010301", + "name": "Autosomal recessive bestrophinopathy", + "synonyms": [ + "Retinopathy, Burgess-Black type" + ] + }, + { + "gard_id": "GARD:0010302", + "name": "SERKAL syndrome", + "synonyms": [ + "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" + ] + }, + { + "gard_id": "GARD:0010303", + "name": "Autism with port-wine stain", + "synonyms": null + }, + { + "gard_id": "GARD:0010304", + "name": "8p23.1 duplication syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010307", + "name": "Congenital disorders of glycosylation", + "synonyms": [ + "CDG", + "Carbohydrate-deficient glycoprotein syndromes", + "Congenital disorder of glycosylation" + ] + }, + { + "gard_id": "GARD:0010311", + "name": "IRAK-4 deficiency", + "synonyms": [ + "Interleukin receptor-associated kinase deficiency", + "IRAK4 deficiency" + ] + }, + { + "gard_id": "GARD:0010312", + "name": "Scapuloperoneal syndrome, neurogenic, Kaeser type", + "synonyms": [ + "Kaeser syndrome", + "Stark-Kaeser syndrome", + "Scapuloperoneal syndrome, neurogenic type, of Kaeser" + ] + }, + { + "gard_id": "GARD:0010313", + "name": "MYH7-related scapuloperoneal myopathy", + "synonyms": [ + "Scapuloperoneal myopathy, MYH7-related", + "MYH7-related late-onset scapuloperoneal syndrome", + "MYH7-related late-onset SPMD", + "MYH7-related late-onset scapuloperoneal muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0010314", + "name": "Amyotrophy, neurogenic scapuloperoneal, New England type", + "synonyms": [ + "Scapuloperoneal spinal muscular atrophy", + "SPSMA" + ] + }, + { + "gard_id": "GARD:0010316", + "name": "Minicore myopathy with external ophthalmoplegia", + "synonyms": [ + "Multicore myopathy with external ophthalmoplegia", + "Multiminicore disease with external ophthalmoplegia" + ] + }, + { + "gard_id": "GARD:0010317", + "name": "Muscular dystrophy, congenital, megaconial type", + "synonyms": [ + "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect", + "Megaconial congénital muscular dystrophy", + "Congenital megaconial myopathy", + "Congenital muscular dystrophy with mitochondrial structural abnormalities", + "Megaconial congenital muscular dystrophy" + ] + }, + { + "gard_id": "GARD:0010318", + "name": "Pleoconial myopathy with salt craving", + "synonyms": null + }, + { + "gard_id": "GARD:0010319", + "name": "Prognathism mandibular", + "synonyms": [ + "Habsburg jaw", + "Hapsburg jaw" + ] + }, + { + "gard_id": "GARD:0010320", + "name": "Lattice corneal dystrophy type 3A", + "synonyms": [ + "Lattice corneal dystrophy type III A" + ] + }, + { + "gard_id": "GARD:0010321", + "name": "3-methylglutaconyl-CoA hydratase deficiency (AUH defect)", + "synonyms": [ + "MGA type I", + "3 alpha methylglutaconic aciduria type I", + "3 methylglutaconyl CoA hydratase deficiency", + "3MG CoA hydratase deficiency", + "3-MGCA type I (3-MGCA-1)", + "3 methylglutaconic aciduria type 1" + ] + }, + { + "gard_id": "GARD:0010322", + "name": "2-methylbutyryl-CoA dehydrogenase deficiency", + "synonyms": [ + "SBCAD deficiency", + "2-methylbutyric aciduria", + "Short branched-chain acyl-CoA dehydrogenase deficiency" + ] + }, + { + "gard_id": "GARD:0010323", + "name": "L-arginine:glycine amidinotransferase deficiency", + "synonyms": [ + "AGAT deficiency", + "Arginine:glycine amidinotransferase deficiency", + "Creatine deficiency syndrome due to AGAT deficiency", + "GATM deficiency" + ] + }, + { + "gard_id": "GARD:0010324", + "name": "Mild phenylketonuria", + "synonyms": [ + "Variant phenylketonuria", + "Variant PKU", + "Mild PKU", + "mPKU" + ] + }, + { + "gard_id": "GARD:0010327", + "name": "2,4-Dienoyl-CoA reductase deficiency", + "synonyms": [ + "Dienoyl-CoA reductase deficiency", + "2,4-alpha dienoyl-CoA reductase deficiency" + ] + }, + { + "gard_id": "GARD:0010328", + "name": "Congenital human immunodeficiency virus", + "synonyms": [ + "Congenital HIV", + "Neonatal human immunodeficiency virus", + "Neonatal HIV" + ] + }, + { + "gard_id": "GARD:0010329", + "name": "Medium-chain 3-ketoacyl-coa thiolase deficiency", + "synonyms": [ + "MCKAT deficiency" + ] + }, + { + "gard_id": "GARD:0010332", + "name": "Tyrosinemia type 3", + "synonyms": [ + "Tyrosinemia type III", + "4-alpha hydroxyphenylpyruvic acid oxidase deficiency", + "4-alpha hydroxyphenylpyruvate dioxygenase deficiency", + "4-hydroxyphenylpyruvate dioxygenase deficiency" + ] + }, + { + "gard_id": "GARD:0010333", + "name": "Sickle beta thalassemia", + "synonyms": [ + "Hemoglobin sickle-beta thalassemia", + "Hb S beta-thalassemia", + "Sickle cell - beta-thalassemia disease", + "HbS - beta-thalassemia", + "HbS-beta-thalassemia syndrome", + "Sickle cell-beta-thalassemia disease syndrome" + ] + }, + { + "gard_id": "GARD:0010334", + "name": "Diffuse gastric cancer", + "synonyms": [ + "Signet cell adenocarcinoma", + "Signet ring gastric carcinoma", + "Signet ring cell carcinoma", + "Signet ring cell gastric carcinoma" + ] + }, + { + "gard_id": "GARD:0010335", + "name": "Mucopolysaccharidosis type I", + "synonyms": [ + "MPS 1", + "Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)", + "Severe MPS I (subtype, also known as Hurler syndrome)", + "Hurler syndrome (subtype)", + "Hurler-Scheie syndrome (subtype)", + "Scheie syndrome (subtype) formerly known as Mucopolysaccharidosis type V)", + "Alpha-L-Iduronidase deficiency", + "IDUA deficiency", + "MPS I" + ] + }, + { + "gard_id": "GARD:0010339", + "name": "Severe combined immunodeficiency due to complete RAG1/2 deficiency", + "synonyms": [ + "SCID, AR, T-cell negative, B-cell negative, NK cell-positive", + "Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive", + "SCID due to complete RAG1/2 deficiency" + ] + }, + { + "gard_id": "GARD:0010341", + "name": "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome", + "synonyms": [ + "MPPH syndrome", + "Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus", + "Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome", + "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" + ] + }, + { + "gard_id": "GARD:0010342", + "name": "Not otherwise specified 3-MGA-uria type", + "synonyms": [ + "3 alpha methylglutaconic aciduria type IV", + "3 methylglutaconic aciduria type IV" + ] + }, + { + "gard_id": "GARD:0010343", + "name": "Charles Bonnet syndrome", + "synonyms": [ + "CBS" + ] + }, + { + "gard_id": "GARD:0010345", + "name": "Dermal eccrine cylindroma", + "synonyms": null + }, + { + "gard_id": "GARD:0010346", + "name": "Gamma heavy chain disease", + "synonyms": [ + "IgG heavy chain disease", + "Franklin disease", + "Gamma heavy chain deposition disease" + ] + }, + { + "gard_id": "GARD:0010347", + "name": "Bizarre parosteal osteochondromatous proliferation", + "synonyms": [ + "BPOP", + "Nora lesion", + "Nora’s Lesion" + ] + }, + { + "gard_id": "GARD:0010349", + "name": "Lymphocytic hypophysitis", + "synonyms": [ + "LYH", + "LH", + "Autoimmune hypophysitis" + ] + }, + { + "gard_id": "GARD:0010350", + "name": "Acquired hemophilia", + "synonyms": [ + "Acquired haemophilia" + ] + }, + { + "gard_id": "GARD:0010351", + "name": "Spinocerebellar ataxia type 6", + "synonyms": [ + "SCA6", + "Spinocerebellar ataxia 6" + ] + }, + { + "gard_id": "GARD:0010352", + "name": "Familial platelet disorder with associated myeloid malignancy", + "synonyms": [ + "Asprin-like platelet disorder", + "Familial thrombocytopenia with propensity to acute myelogenous leukemia", + "Familial platelet syndrome with predisposition to acute myelogenous leukemia", + "FPD/AML syndrome", + "FPS/AML syndrome", + "Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome", + "RUNX1 FPD/AML", + "Familial platelet disorder with predisposition to acute myelogenous leukemia", + "Familial platelet disorder with predisposition to myeloid malignancy", + "Familial platelet disorder with propensity to acute myeloid leukemia", + "FPD/AML", + "FPDMM", + "FPS/AML" + ] + }, + { + "gard_id": "GARD:0010353", + "name": "Porphyria", + "synonyms": null + }, + { + "gard_id": "GARD:0010354", + "name": "Gershoni-Baruch syndrome", + "synonyms": [ + "Omphalocele, diaphragmatic hernia, and radial ray defects" + ] + }, + { + "gard_id": "GARD:0010355", + "name": "Familial congenital palsy of trochlear nerve", + "synonyms": [ + "Trochlear nerve palsy, familial congenital", + "Superior oblique oculomotor palsy, familial congenital", + "Strabismus from superior oblique palsy" + ] + }, + { + "gard_id": "GARD:0010357", + "name": "Primary release disorder of platelets", + "synonyms": [ + "Bleeding disorder due to primary defects in platelet release mechanism" + ] + }, + { + "gard_id": "GARD:0010358", + "name": "Birk-Barel syndrome", + "synonyms": [ + "KCNK9 imprinting syndrome", + "Intellectual disability-hypotonia-facial dysmorphism syndrome" + ] + }, + { + "gard_id": "GARD:0010359", + "name": "Paralysis agitans, juvenile, of Hunt", + "synonyms": [ + "Parkinson disease, juvenile, of Hunt" + ] + }, + { + "gard_id": "GARD:0010360", + "name": "Chromosome 3q29 microduplication syndrome", + "synonyms": [ + "Trisomy 3q29", + "Microduplication 3q29 syndrome" + ] + }, + { + "gard_id": "GARD:0010361", + "name": "Brugada syndrome 3", + "synonyms": null + }, + { + "gard_id": "GARD:0010362", + "name": "Brugada syndrome 4", + "synonyms": null + }, + { + "gard_id": "GARD:0010363", + "name": "Twenty-nail dystrophy", + "synonyms": [ + "Onychodystrophy totalis", + "Trachyonychia", + "Sandpaper nails", + "Twenty nail dystrophy", + "Nail disorder, nonsyndromic congenital 1", + "Autosomal dominant nail dysplasia", + "Idiopathic trachyonychia" + ] + }, + { + "gard_id": "GARD:0010365", + "name": "Sepiapterin reductase deficiency", + "synonyms": [ + "SPR deficiency", + "DYT/PARK-SPR", + "Dopa-responsive dystonia due to sepiapterin reductase deficiency", + "SR-deficient DRD" + ] + }, + { + "gard_id": "GARD:0010366", + "name": "Oculoectodermal syndrome", + "synonyms": [ + "Oculo-ectodermal syndrome", + "Aplasia cutis congenita with epibulbar dermoids", + "Toriello Lacassie Droste syndrome" + ] + }, + { + "gard_id": "GARD:0010367", + "name": "Lelis syndrome", + "synonyms": [ + "Ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" + ] + }, + { + "gard_id": "GARD:0010370", + "name": "Rhabdomyomatous mesenchymal hamartoma", + "synonyms": [ + "RMH" + ] + }, + { + "gard_id": "GARD:0010372", + "name": "Trehalase deficiency", + "synonyms": [ + "Trehalose intolerance" + ] + }, + { + "gard_id": "GARD:0010374", + "name": "Trachoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010376", + "name": "Retinitis pigmentosa 12", + "synonyms": [ + "RP 12" + ] + }, + { + "gard_id": "GARD:0010377", + "name": "Retinitis Pigmentosa 6", + "synonyms": [ + "RP 6" + ] + }, + { + "gard_id": "GARD:0010378", + "name": "Retinitis pigmentosa 29", + "synonyms": [ + "RP 29" + ] + }, + { + "gard_id": "GARD:0010379", + "name": "Retinitis Pigmentosa 41", + "synonyms": [ + "RP 41", + "Retinal degeneration, autosomal recessive, prominin-related" + ] + }, + { + "gard_id": "GARD:0010381", + "name": "Retinitis pigmentosa 3", + "synonyms": [ + "RP3", + "Choroidoretinal degeneration with retinal reflex in heterozygous women" + ] + }, + { + "gard_id": "GARD:0010382", + "name": "Retinitis Pigmentosa 9", + "synonyms": [ + "RP 9" + ] + }, + { + "gard_id": "GARD:0010383", + "name": "Retinitis Pigmentosa 11", + "synonyms": [ + "RP 11" + ] + }, + { + "gard_id": "GARD:0010384", + "name": "Retinitis Pigmentosa 25", + "synonyms": [ + "RP 25" + ] + }, + { + "gard_id": "GARD:0010385", + "name": "Retinitis Pigmentosa 14", + "synonyms": [ + "RP 14" + ] + }, + { + "gard_id": "GARD:0010386", + "name": "Retinitis Pigmentosa 7", + "synonyms": [ + "RP 7" + ] + }, + { + "gard_id": "GARD:0010387", + "name": "Retinitis Pigmentosa 17", + "synonyms": [ + "RP 17" + ] + }, + { + "gard_id": "GARD:0010388", + "name": "Retinitis Pigmentosa 13", + "synonyms": [ + "RP 13" + ] + }, + { + "gard_id": "GARD:0010389", + "name": "Retinitis Pigmentosa 24", + "synonyms": [ + "RP 24" + ] + }, + { + "gard_id": "GARD:0010390", + "name": "Retinitis Pigmentosa 34", + "synonyms": [ + "RP 34" + ] + }, + { + "gard_id": "GARD:0010391", + "name": "Retinitis Pigmentosa 23", + "synonyms": [ + "RP 23" + ] + }, + { + "gard_id": "GARD:0010392", + "name": "Retinitis Pigmentosa 18", + "synonyms": [ + "RP 18" + ] + }, + { + "gard_id": "GARD:0010393", + "name": "Retinitis Pigmentosa 22", + "synonyms": [ + "RP 22" + ] + }, + { + "gard_id": "GARD:0010394", + "name": "Retinitis Pigmentosa 28", + "synonyms": [ + "RP 28" + ] + }, + { + "gard_id": "GARD:0010395", + "name": "Retinitis Pigmentosa 32", + "synonyms": [ + "RP 32" + ] + }, + { + "gard_id": "GARD:0010396", + "name": "Retinitis Pigmentosa 31", + "synonyms": [ + "RP 31" + ] + }, + { + "gard_id": "GARD:0010397", + "name": "Retinitis Pigmentosa 26", + "synonyms": [ + "RP 26" + ] + }, + { + "gard_id": "GARD:0010398", + "name": "Retinitis Pigmentosa 19", + "synonyms": [ + "RP 19" + ] + }, + { + "gard_id": "GARD:0010399", + "name": "Retinitis Pigmentosa 15", + "synonyms": [ + "RP 15", + "Cone-rod degeneration X-linked" + ] + }, + { + "gard_id": "GARD:0010400", + "name": "Retinitis Pigmentosa 33", + "synonyms": [ + "RP 33" + ] + }, + { + "gard_id": "GARD:0010401", + "name": "Retinitis Pigmentosa 30", + "synonyms": [ + "RP 30" + ] + }, + { + "gard_id": "GARD:0010402", + "name": "Retinitis Pigmentosa 35", + "synonyms": [ + "RP 35" + ] + }, + { + "gard_id": "GARD:0010403", + "name": "Retinitis Pigmentosa 36", + "synonyms": [ + "RP 36" + ] + }, + { + "gard_id": "GARD:0010404", + "name": "Retinitis Pigmentosa 20", + "synonyms": [ + "RP 20" + ] + }, + { + "gard_id": "GARD:0010405", + "name": "Retinitis Pigmentosa 4", + "synonyms": [ + "RP 4" + ] + }, + { + "gard_id": "GARD:0010406", + "name": "Scurvy", + "synonyms": [ + "Vitamin C deficiency", + "Deficiency of vitamin C", + "Scorbutus", + "Hypoascorbemia" + ] + }, + { + "gard_id": "GARD:0010407", + "name": "ROHHAD", + "synonyms": [ + "Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation" + ] + }, + { + "gard_id": "GARD:0010409", + "name": "Digestive System Melanoma", + "synonyms": [ + "Melanoma of the gastrointestinal tract", + "Melanoma of the GI tract", + "Malignant melanoma of the gastrointestinal tract", + "primary gastrointestinal melanoma" + ] + }, + { + "gard_id": "GARD:0010410", + "name": "Primary malignant melanoma of the conjunctiva", + "synonyms": null + }, + { + "gard_id": "GARD:0010411", + "name": "Ovarian small cell carcinoma", + "synonyms": [ + "Small cell carcinoma of the ovary" + ] + }, + { + "gard_id": "GARD:0010412", + "name": "Spitz nevus", + "synonyms": [ + "Spitz nevi", + "Spitz naevus" + ] + }, + { + "gard_id": "GARD:0010414", + "name": "Goblet cell carcinoid", + "synonyms": [ + "Goblet cell carcinoma", + "Mucinous carcinoid", + "GCC", + "Goblet cell adenocarcinoid", + "Goblet cell tumor" + ] + }, + { + "gard_id": "GARD:0010418", + "name": "Hemophilia", + "synonyms": null + }, + { + "gard_id": "GARD:0010419", + "name": "Myotonic dystrophy", + "synonyms": [ + "Dystrophia myotonica", + "Myotonia atrophica", + "Myotonia dystrophica" + ] + }, + { + "gard_id": "GARD:0010420", + "name": "Neurofibromatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010422", + "name": "Cholesteatoma", + "synonyms": [ + "Primary acquired cholesteatoma (type)", + "Secondary acquired cholesteatoma (type)", + "Congenital cholesteatoma (type)" + ] + }, + { + "gard_id": "GARD:0010423", + "name": "Coenzyme Q10 deficiency", + "synonyms": [ + "CoQ10 deficiency", + "CoQ10 deficiency, primary" + ] + }, + { + "gard_id": "GARD:0010424", + "name": "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy", + "synonyms": [ + "CARASIL", + "Maeda syndrome", + "Subcortical vascular encephalopathy, progressive", + "Cerebrovascular disease with thin skin, alopecia, and disc disease" + ] + }, + { + "gard_id": "GARD:0010427", + "name": "X-linked hypohidrotic ectodermal dysplasia", + "synonyms": [ + "XHED", + "Ectodermal dysplasia 1", + "Hypohidrotic ectodermal dysplasia X-linked", + "Anhidrotic ectodermal dysplasia X-linked", + "Christ-Siemens-Touraine syndrome" + ] + }, + { + "gard_id": "GARD:0010428", + "name": "Pure autonomic failure", + "synonyms": [ + "Bradbury Eggleston syndrome", + "Bradbury-Eggleston syndrome", + "Orthostatic hypotension (a symptom)", + "Idiopathic orthostatic hypotension (a symptom)" + ] + }, + { + "gard_id": "GARD:0010429", + "name": "Brachyolmia type 3", + "synonyms": [ + "Brachyolmia autosomal dominant", + "Brachyrachia", + "Autosomal dominant brachyolmia" + ] + }, + { + "gard_id": "GARD:0010430", + "name": "Dravet syndrome", + "synonyms": [ + "Severe Myoclonic Epilepsy of Infancy", + "SMEI", + "Myoclonic epilepsy, severe, of infancy", + "SME" + ] + }, + { + "gard_id": "GARD:0010431", + "name": "Endemic Kaposi sarcoma", + "synonyms": [ + "African Kaposi sarcoma", + "African/endemic Kaposi sarcoma" + ] + }, + { + "gard_id": "GARD:0010432", + "name": "Long QT syndrome 4", + "synonyms": [ + "LQT4" + ] + }, + { + "gard_id": "GARD:0010433", + "name": "Long QT syndrome 5", + "synonyms": [ + "LQT5" + ] + }, + { + "gard_id": "GARD:0010434", + "name": "Long QT syndrome 6", + "synonyms": [ + "LQT6" + ] + }, + { + "gard_id": "GARD:0010435", + "name": "Long QT syndrome 9", + "synonyms": [ + "LQT9" + ] + }, + { + "gard_id": "GARD:0010436", + "name": "Long QT syndrome 10", + "synonyms": [ + "LQT10" + ] + }, + { + "gard_id": "GARD:0010437", + "name": "Long QT syndrome 11", + "synonyms": [ + "LQT11" + ] + }, + { + "gard_id": "GARD:0010438", + "name": "Microcystic adnexal carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010439", + "name": "Hidradenocarcinoma", + "synonyms": [ + "Malignant nodular/clear cell hidradenoma", + "Malignant acrospiroma", + "Malignant clear cell acrospiroma", + "Clear cell eccrine carcinoma", + "Primary mucoepidermoid cutaneous carcinoma" + ] + }, + { + "gard_id": "GARD:0010440", + "name": "Neonatal meningitis", + "synonyms": [ + "Meningitis, neonatal" + ] + }, + { + "gard_id": "GARD:0010441", + "name": "Lathyrism", + "synonyms": null + }, + { + "gard_id": "GARD:0010442", + "name": "Cassavism", + "synonyms": null + }, + { + "gard_id": "GARD:0010443", + "name": "Pediatric multiple sclerosis", + "synonyms": [ + "Pediatric MS", + "Multiple sclerosis, pediatric", + "MS pediatric" + ] + }, + { + "gard_id": "GARD:0010444", + "name": "Neonatal stroke", + "synonyms": [ + "Neonatal Ischemic Stroke", + "NIS", + "Perinatal stroke", + "Perinatal ischemic stroke", + "Perinatal arterial ischemic stroke" + ] + }, + { + "gard_id": "GARD:0010445", + "name": "Transaldolase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0010446", + "name": "Cerebral palsy spastic monoplegic", + "synonyms": [ + "Spastic monoplegic cerebral palsy", + "Spastic monoplegia cerebral palsy" + ] + }, + { + "gard_id": "GARD:0010447", + "name": "Cerebral palsy spastic quadriplegic", + "synonyms": [ + "Spastic quadriplegic cerebral palsy", + "Spastic quadriplegia cerebral palsy", + "Spastic tetraplegia cerebral palsy" + ] + }, + { + "gard_id": "GARD:0010448", + "name": "Cerebral palsy spastic hemiplegic", + "synonyms": [ + "Spastic hemiplegic cerebral palsy", + "Spastic hemiplegia cerebral palsy" + ] + }, + { + "gard_id": "GARD:0010449", + "name": "Cerebral palsy athetoid", + "synonyms": [ + "Athetoid cerebral palsy", + "Cerebral palsy dyskinetic" + ] + }, + { + "gard_id": "GARD:0010451", + "name": "Cerebral palsy ataxic", + "synonyms": [ + "Ataxic cerebral palsy" + ] + }, + { + "gard_id": "GARD:0010452", + "name": "Hepatic encephalopathy", + "synonyms": [ + "Hepatoencephalopathy", + "Encephalopathy, hepatic" + ] + }, + { + "gard_id": "GARD:0010453", + "name": "Perry syndrome", + "synonyms": [ + "Parkinsonism with alveolar hypoventilation and mental depression" + ] + }, + { + "gard_id": "GARD:0010454", + "name": "Brunsting-Perry syndrome", + "synonyms": [ + "Localized cicatricial pemphigoid", + "Brunsting Perry syndrome", + "Cicatricial pemphigoid of the Brunsting-Perry type" + ] + }, + { + "gard_id": "GARD:0010455", + "name": "Familial pulmonary arterial hypertension leucopenia and atrial septal defect", + "synonyms": [ + "Familial pulmonary arterial hypertension, leucopenia and ASD", + "Familial PAH, leucopenia and ASD" + ] + }, + { + "gard_id": "GARD:0010456", + "name": "Polyosteolysis/hyperostosis syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010457", + "name": "Permanent neonatal diabetes mellitus", + "synonyms": [ + "PNDM", + "Permanent diabetes mellitus of infancy" + ] + }, + { + "gard_id": "GARD:0010459", + "name": "Cerebrocostomandibular-like syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010460", + "name": "Mahvash disease", + "synonyms": [ + "Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor", + "Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" + ] + }, + { + "gard_id": "GARD:0010463", + "name": "Papillary eccrine adenoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010464", + "name": "Malignant cylindroma", + "synonyms": null + }, + { + "gard_id": "GARD:0010465", + "name": "Eccrine mucinous carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010466", + "name": "Malignant eccrine spiradenoma", + "synonyms": [ + "Eccrine spiradenoma, malignant", + "MES" + ] + }, + { + "gard_id": "GARD:0010467", + "name": "Multifocal lymphangioendotheliomatosis with thrombocytopenia", + "synonyms": [ + "MLT", + "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome", + "cutaneovisceral angiomatosis with thrombocytopenia", + "Cutaneovisceral angiomatosis-thrombocytopenia syndrome" + ] + }, + { + "gard_id": "GARD:0010468", + "name": "Cardiac rupture", + "synonyms": null + }, + { + "gard_id": "GARD:0010469", + "name": "Spinocerebellar ataxia 17", + "synonyms": [ + "SCA 17", + "Spinocerebellar ataxia type 17" + ] + }, + { + "gard_id": "GARD:0010470", + "name": "BK-virus nephropathy", + "synonyms": [ + "BKN", + "BK virus nephropathy", + "Nephropathy from BK virus", + "Polyomavirus nephropathy" + ] + }, + { + "gard_id": "GARD:0010471", + "name": "Limb-girdle muscular dystrophy, type 2G", + "synonyms": [ + "Muscular dystrophy, limb-girdle, type 2G", + "LGMD2G" + ] + }, + { + "gard_id": "GARD:0010472", + "name": "L-2-hydroxyglutaric aciduria", + "synonyms": [ + "L-2-hydroxyglutaric acidemia" + ] + }, + { + "gard_id": "GARD:0010474", + "name": "Spinocerebellar ataxia 10", + "synonyms": [ + "SCA10", + "Spinocerebellar ataxia type 10" + ] + }, + { + "gard_id": "GARD:0010475", + "name": "Spinocerebellar ataxia 11", + "synonyms": [ + "SCA11", + "Spinocerebellar ataxia type 11" + ] + }, + { + "gard_id": "GARD:0010476", + "name": "Spinocerebellar ataxia 12", + "synonyms": [ + "SCA12", + "Spinocerebellar ataxia type 12" + ] + }, + { + "gard_id": "GARD:0010477", + "name": "Spinocerebellar ataxia 15", + "synonyms": [ + "SCA15", + "Spinocerebellar ataxia type 15", + "SCA16 (formerly)", + "Spinocerebellar ataxia 16 (formerly)" + ] + }, + { + "gard_id": "GARD:0010480", + "name": "Spinocerebellar ataxia 29", + "synonyms": [ + "SCA29", + "Spinocerebellar ataxia type 29", + "Cerebellar vermis aplasia", + "ACV", + "Cerebellar ataxia early-onset nonprogressive", + "Aplasia of cerebellar vermis", + "Congenital nonprogressive spinocerebellar ataxia" + ] + }, + { + "gard_id": "GARD:0010481", + "name": "Spinocerebellar ataxia 9", + "synonyms": [ + "SCA9", + "Spinocerebellar ataxia type 9" + ] + }, + { + "gard_id": "GARD:0010482", + "name": "Indolent B cell lymphoma", + "synonyms": [ + "B cell lymphoma, indolent" + ] + }, + { + "gard_id": "GARD:0010483", + "name": "Patent ductus venosus", + "synonyms": [ + "PDV", + "Portosystemic venous shunt, congenital", + "PSVS" + ] + }, + { + "gard_id": "GARD:0010484", + "name": "Dopamine transporter deficiency syndrome", + "synonyms": [ + "Parkinsonism-dystonia infantile", + "Infantile Parkinsonism-dystonia", + "DTDS", + "PKDYS", + "SLC6A3-Related Dopamine Transporter Deficiency Syndrome", + "DAT Deficiency" + ] + }, + { + "gard_id": "GARD:0010485", + "name": "Morphea", + "synonyms": null + }, + { + "gard_id": "GARD:0010486", + "name": "Craniopharyngioma", + "synonyms": [ + "Rathke's pouch tumor", + "Craniopharyngeal duct tumor", + "Adamantinoma", + "Adamantinomatous tumor", + "Dysodontogenic epithelial tumor" + ] + }, + { + "gard_id": "GARD:0010487", + "name": "Leber congenital amaurosis 10", + "synonyms": [ + "LCA10", + "Amaurosis congenita of Leber, type 10", + "Leber congenital amaurosis type 10" + ] + }, + { + "gard_id": "GARD:0010488", + "name": "Leber congenital amaurosis 11", + "synonyms": [ + "LCA11", + "Amaurosis congenita of Leber, type 11", + "Leber congenital amaurosis type 11" + ] + }, + { + "gard_id": "GARD:0010489", + "name": "Leber congenital amaurosis 12", + "synonyms": [ + "LCA12", + "Amaurosis congenita of Leber, type 12", + "Leber congenital amaurosis type 12" + ] + }, + { + "gard_id": "GARD:0010490", + "name": "Leber congenital amaurosis 6", + "synonyms": [ + "LCA6", + "Leber congenital amaurosis type 6" + ] + }, + { + "gard_id": "GARD:0010491", + "name": "Langerhans cell sarcoma", + "synonyms": [ + "Malignant Langerhans cell sarcoma" + ] + }, + { + "gard_id": "GARD:0010493", + "name": "Aggressive NK cell leukemia", + "synonyms": [ + "Aggressive natural killer cell leukemia", + "ANKL" + ] + }, + { + "gard_id": "GARD:0010494", + "name": "Meconium aspiration syndrome", + "synonyms": [ + "MAS" + ] + }, + { + "gard_id": "GARD:0010496", + "name": "Amyotrophic lateral sclerosis type 11", + "synonyms": [ + "Amyotrophic lateral sclerosis 11", + "ALS11" + ] + }, + { + "gard_id": "GARD:0010497", + "name": "Amyotrophic lateral sclerosis type 10", + "synonyms": [ + "Amyotrophic lateral sclerosis 10", + "ALS10" + ] + }, + { + "gard_id": "GARD:0010498", + "name": "Amyotrophic lateral sclerosis type 9", + "synonyms": [ + "Amyotrophic lateral sclerosis 9", + "ALS9" + ] + }, + { + "gard_id": "GARD:0010499", + "name": "Amyotrophic lateral sclerosis type 8", + "synonyms": [ + "Amyotrophic lateral sclerosis 8", + "ALS8" + ] + }, + { + "gard_id": "GARD:0010500", + "name": "Amyotrophic lateral sclerosis type 7", + "synonyms": [ + "Amyotrophic lateral sclerosis 7", + "ALS7" + ] + }, + { + "gard_id": "GARD:0010501", + "name": "Amyotrophic lateral sclerosis type 3", + "synonyms": [ + "Amyotrophic lateral sclerosis 3", + "ALS3" + ] + }, + { + "gard_id": "GARD:0010502", + "name": "Amyotrophic lateral sclerosis type 4", + "synonyms": [ + "Amyotrophic lateral sclerosis 4", + "ALS4" + ] + }, + { + "gard_id": "GARD:0010503", + "name": "Amyotrophic lateral sclerosis type 5", + "synonyms": [ + "Amyotrophic lateral sclerosis 5", + "ALS5" + ] + }, + { + "gard_id": "GARD:0010504", + "name": "Craniorachischisis", + "synonyms": null + }, + { + "gard_id": "GARD:0010505", + "name": "Cryptophthalmos", + "synonyms": null + }, + { + "gard_id": "GARD:0010506", + "name": "Iniencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0010508", + "name": "Bartter syndrome type 4", + "synonyms": [ + "Bartter syndrome with sensorineural deafness", + "BSND" + ] + }, + { + "gard_id": "GARD:0010509", + "name": "Barraquer-Simons syndrome", + "synonyms": [ + "APL", + "Lipodystrophy partial acquired", + "Lipodystrophy cephalothoracic type", + "Lipodystophy partial progressive" + ] + }, + { + "gard_id": "GARD:0010510", + "name": "Juvenile Huntington disease", + "synonyms": [ + "JHD", + "Huntington disease, juvenile onset", + "Juvenile onset HD", + "Juvenile Huntington chorea" + ] + }, + { + "gard_id": "GARD:0010511", + "name": "Fundus dystrophy, pseudoinflammatory, of Sorsby", + "synonyms": [ + "SFD", + "Macular dystrophy, hemorrhagic", + "Sorsby's pseudoinflammatory macular dystrophy" + ] + }, + { + "gard_id": "GARD:0010512", + "name": "Kniest-like dysplasia with pursed lips and ectopia lentis", + "synonyms": [ + "Burton syndrome" + ] + }, + { + "gard_id": "GARD:0010513", + "name": "Spondyloepimetaphyseal dysplasia, Aggrecan type", + "synonyms": [ + "SEMD, Aggrecan type" + ] + }, + { + "gard_id": "GARD:0010514", + "name": "SeSAME syndrome", + "synonyms": [ + "Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance", + "Epilepsy, ataxia, sensorineural deafness and tubulopathy", + "EAST syndrome", + "Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance", + "Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome", + "Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome" + ] + }, + { + "gard_id": "GARD:0010515", + "name": "Congenital tracheomalacia", + "synonyms": [ + "Tracheomalacia, congenital", + "Type 1 tracheomalacia", + "Congenital major airway collapse" + ] + }, + { + "gard_id": "GARD:0010516", + "name": "Deficiency of interleukin-1 receptor antagonist", + "synonyms": [ + "DIRA", + "Interleukin 1 receptor antagonist deficiency" + ] + }, + { + "gard_id": "GARD:0010518", + "name": "Orofaciodigital syndrome 3", + "synonyms": [ + "OFD3", + "Oral-facial-digital syndrome type 3", + "OFD syndrome 3", + "Orofaciodigital syndrome III", + "Oral facial digital syndrome 3", + "Oral facial digital syndrome type 3", + "OFDS 3" + ] + }, + { + "gard_id": "GARD:0010520", + "name": "Orofaciodigital syndrome 9", + "synonyms": [ + "OFD9", + "Oral-facial-digital syndrome type 9", + "OFD syndrome 9", + "Orofaciodigital syndrome with retinal abnormalities", + "Oral-facial-digital syndrome with retinal abnormalities", + "Orofaciodigital syndrome IX", + "Oral facial digital syndrome type 9", + "Oral facial digital syndrome 9", + "OFDS 9" + ] + }, + { + "gard_id": "GARD:0010521", + "name": "Familial eosinophilia", + "synonyms": null + }, + { + "gard_id": "GARD:0010522", + "name": "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay", + "synonyms": [ + "Myopathy with cataract and combined respiratory-chain deficiency", + "Mitochondrial complex deficiency, combined" + ] + }, + { + "gard_id": "GARD:0010523", + "name": "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", + "synonyms": null + }, + { + "gard_id": "GARD:0010524", + "name": "Immune dysfunction with T-cell inactivation due to calcium entry defect 1", + "synonyms": null + }, + { + "gard_id": "GARD:0010525", + "name": "15q11.2 microdeletion", + "synonyms": [ + "Chromosome 15q11.2 microdeletion", + "Chromosome 15q11.2 deletion", + "Del(15)(q11.2)", + "15q11.2 microdeletion syndrome", + "Monosomy 15q11.2", + "15q11.2 BP1-BP2 microdeletion syndrome" + ] + }, + { + "gard_id": "GARD:0010526", + "name": "Ectodermal dysplasia with natal teeth Turnpenny type", + "synonyms": null + }, + { + "gard_id": "GARD:0010528", + "name": "Gingival fibromatosis with distinctive facies", + "synonyms": [ + "Gingival fibromatosis with craniofacial dysmorphism" + ] + }, + { + "gard_id": "GARD:0010529", + "name": "Myofibrillar myopathy", + "synonyms": [ + "Desminopathy (type)", + "Alpha Beta crystallinopathy (type)", + "Myotilinopathy (type)", + "Zaspopathy (type)", + "Filaminopathy (type)", + "Desmin storage myopathy (former name)", + "Desmin related myopathy (former name)", + "Protein surplus myopathy (former name)" + ] + }, + { + "gard_id": "GARD:0010531", + "name": "Vernal keratitis", + "synonyms": null + }, + { + "gard_id": "GARD:0010533", + "name": "X-linked dystonia-parkinsonism/Lubag", + "synonyms": [ + "DYT3", + "Dystonia-Parkinsonism, X-linked", + "XDP", + "Torsion dystonia-Parkinsonism, Filipino type", + "X-Linked Torsion Dystonia-Parkinsonism syndrome", + "X-Linked Dystonia-Parkinsonism syndrome", + "Lubag", + "DYT-TAF1", + "Dystonia 3, torsion, X-linked" + ] + }, + { + "gard_id": "GARD:0010535", + "name": "Hereditary vascular retinopathy", + "synonyms": [ + "HVR" + ] + }, + { + "gard_id": "GARD:0010538", + "name": "Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia", + "synonyms": null + }, + { + "gard_id": "GARD:0010539", + "name": "DYT-PRKRA", + "synonyms": [ + "DYT16", + "Young-onset dystonia-(parkinsonism)", + "Dystonia-16" + ] + }, + { + "gard_id": "GARD:0010541", + "name": "Paroxysmal exertion-induced dyskinesia", + "synonyms": [ + "DYT18", + "PED", + "Paroxysmal exercise-induced dystonia", + "Dystonia 18", + "DYT-SLC2A1" + ] + }, + { + "gard_id": "GARD:0010543", + "name": "Duodenal carcinoid syndrome", + "synonyms": [ + "NPDC syndrome", + "Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" + ] + }, + { + "gard_id": "GARD:0010544", + "name": "Paragangliomas 2", + "synonyms": [ + "PGL2", + "Glomus tumors, familial, 2", + "SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 2)" + ] + }, + { + "gard_id": "GARD:0010545", + "name": "Paragangliomas 3", + "synonyms": [ + "PGL3", + "Glomus tumors, familial, 3", + "SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3)" + ] + }, + { + "gard_id": "GARD:0010546", + "name": "Paragangliomas 4", + "synonyms": [ + "PGL4", + "Pheochromocytoma, extraadrenal and cervical paraganglioma", + "SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome", + "Paragangliomas, hereditary extraadrenal", + "Pheochromocytoma, familial extraadrenal", + "Paraganglioma, familial malignant" + ] + }, + { + "gard_id": "GARD:0010548", + "name": "Mycobacterium Abscessus", + "synonyms": [ + "M. Abscessus", + "Mycobacterium Abscessus infection" + ] + }, + { + "gard_id": "GARD:0010549", + "name": "Mycobacterium Malmoense", + "synonyms": [ + "M. Malmoense", + "Mycobacterium Malmoense infection" + ] + }, + { + "gard_id": "GARD:0010550", + "name": "Mycobacterium Xenopi", + "synonyms": [ + "M. Xenopi", + "Mycobacterium Xenopi infection" + ] + }, + { + "gard_id": "GARD:0010551", + "name": "Mycobacterium Kansasii", + "synonyms": [ + "M. Kansasii", + "Mycobacterium Kansasii infection" + ] + }, + { + "gard_id": "GARD:0010552", + "name": "Mycobacterium Chelonae", + "synonyms": [ + "M. Chelonae", + "Mycobacterium Chelonae infection" + ] + }, + { + "gard_id": "GARD:0010553", + "name": "Mycobacterium Gordonae", + "synonyms": [ + "M. Gordonae", + "Mycobacterium Gordonae infection" + ] + }, + { + "gard_id": "GARD:0010556", + "name": "Blastic plasmacytoid dendritic cell", + "synonyms": [ + "BPDCN", + "Blastic plasmacytoid dendritic cell neoplasm", + "CD4+/CD56+ hematodermic neoplasm", + "Lymphoblastoid variant of NK-cell lymphoma", + "Blastic NK-cell lymphoma", + "Monomorphic NK-cell lymphoma" + ] + }, + { + "gard_id": "GARD:0010557", + "name": "22q11.2 duplication syndrome", + "synonyms": [ + "22q11.2 duplication", + "22q11.2 microduplication syndrome", + "Chromosome 22q11.2 duplication syndrome" + ] + }, + { + "gard_id": "GARD:0010558", + "name": "Myoepithelial carcinoma", + "synonyms": [ + "Malignant myoepithelioma", + "Myoepithelioma carcinoma" + ] + }, + { + "gard_id": "GARD:0010559", + "name": "Children's interstitial lung disease", + "synonyms": [ + "ChILD", + "Primary ILD specific to childhood", + "Primary interstitial lung disease specific to childhood" + ] + }, + { + "gard_id": "GARD:0010560", + "name": "Amyloidosis AA", + "synonyms": [ + "Amyloid A amyloidosis", + "AA Amyloidosis" + ] + }, + { + "gard_id": "GARD:0010562", + "name": "Primary localized cutaneous nodular amyloidosis", + "synonyms": [ + "Amyloidosis cutis nodularis atrophicans", + "NLCA", + "Nodular cutaneous amyloidosis", + "Nodular amyloidosis (AL)", + "PLCNA" + ] + }, + { + "gard_id": "GARD:0010563", + "name": "Amyloidosis Beta2M", + "synonyms": [ + "Amyloidosis dialysis-related", + "Beta-2-microglobulin amyloidosis", + "Dialysis-related amyloidosis", + "DRA" + ] + }, + { + "gard_id": "GARD:0010564", + "name": "Adenocarcinoma of the appendix", + "synonyms": [ + "Mucinous adenocarcinoma", + "Cystadenocarcinoma", + "Nonmucinous adenocarcinoma", + "Colonic type adenocarcinoma" + ] + }, + { + "gard_id": "GARD:0010565", + "name": "Pseudo Pelger-Huet anomaly", + "synonyms": [ + "Partial Pelger-Huet anomaly", + "Pseudo Pelger anomaly" + ] + }, + { + "gard_id": "GARD:0010566", + "name": "Reese retinal dysplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0010568", + "name": "Dauwerse-Peters syndrome", + "synonyms": [ + "Short stature, facial dysmorphism, severe brachydactyly and syndactyly" + ] + }, + { + "gard_id": "GARD:0010569", + "name": "Guttate psoriasis", + "synonyms": [ + "Psoriasis guttate" + ] + }, + { + "gard_id": "GARD:0010571", + "name": "Spondylospinal thoracic dysostosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010572", + "name": "Christianson syndrome", + "synonyms": [ + "Intellectual disability x-linked syndromic Christianson type", + "MRXS Christianson", + "Angelman-like syndrome x-linked", + "Intellectual disability microcephaly epilepsy and ataxia syndrome", + "X-linked Angelman-like syndrome", + "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy", + "X-linked intellectual disability, South African type", + "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" + ] + }, + { + "gard_id": "GARD:0010573", + "name": "Camptodactyly syndrome Guadalajara type 3", + "synonyms": null + }, + { + "gard_id": "GARD:0010574", + "name": "Aland island eye disease", + "synonyms": [ + "AIED", + "Forsius Eriksson type ocular albinism" + ] + }, + { + "gard_id": "GARD:0010575", + "name": "PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY", + "synonyms": [ + "PTGS DEFICIENCY", + "PLATELET CYCLOOXYGENASE DEFICIENCY", + "CYCLOOXYGENASE 1 DEFICIENCY", + "COX1 DEFICIENCY" + ] + }, + { + "gard_id": "GARD:0010576", + "name": "Thrombocytopenia with elevated serum IgA and renal disease", + "synonyms": null + }, + { + "gard_id": "GARD:0010577", + "name": "ALK+ histiocytosis", + "synonyms": [ + "Anaplastic lymphoma kinase positive histiocytosis" + ] + }, + { + "gard_id": "GARD:0010578", + "name": "Immunodeficiency with hyper IgM type 2", + "synonyms": [ + "HIGM2", + "Hyper IgM syndrome 2" + ] + }, + { + "gard_id": "GARD:0010579", + "name": "Immunodeficiency with hyper IgM type 3", + "synonyms": [ + "HIGM3", + "Hyper IgM syndrome 3" + ] + }, + { + "gard_id": "GARD:0010580", + "name": "Immunodeficiency with hyper IgM type 4", + "synonyms": [ + "HIGM4", + "Hyper IgM syndrome 4" + ] + }, + { + "gard_id": "GARD:0010581", + "name": "Immunodeficiency with hyper IgM type 5", + "synonyms": [ + "HIGM5", + "Hyper IgM syndrome 5" + ] + }, + { + "gard_id": "GARD:0010582", + "name": "Zechi Ceide syndrome", + "synonyms": [ + "Occipital atretic cephalocele, unusual facies and large feet" + ] + }, + { + "gard_id": "GARD:0010583", + "name": "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis", + "synonyms": [ + "NISCH syndrome", + "Neonatal ichthyosis-sclerosing cholangitis syndrome", + "ILVASC", + "Ichthyosis-sclerosing cholangitis syndrome" + ] + }, + { + "gard_id": "GARD:0010584", + "name": "Mesomelic dysplasia Savarirayan type", + "synonyms": [ + "Mesomelic dysplasia with absent fibulas and triangular tibias", + "Triangular tibia and fibular aplasia" + ] + }, + { + "gard_id": "GARD:0010585", + "name": "Chronic neutrophilic leukemia", + "synonyms": [ + "CNL" + ] + }, + { + "gard_id": "GARD:0010586", + "name": "Loeys-Dietz syndrome type 2", + "synonyms": [ + "Loeys-Dietz syndrome 2" + ] + }, + { + "gard_id": "GARD:0010587", + "name": "Autosomal dominant leukodystrophy with autonomic disease", + "synonyms": [ + "Leukodystrophy, demyelinating, adult-onset, autosomal dominant", + "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type", + "Multiple sclerosis-like disorder", + "Autosomal dominant adult-onset demyelinating leukodystrophy", + "ADLD", + "Adult-onset autosomal dominant leukodystrophy", + "Adult-onset autosomal dominant demyelinating leukodystrophy" + ] + }, + { + "gard_id": "GARD:0010588", + "name": "Loeys-Dietz syndrome type 4", + "synonyms": [ + "Loeys-Dietz syndrome 4" + ] + }, + { + "gard_id": "GARD:0010590", + "name": "Syndactyly type 9", + "synonyms": [ + "Syndactyly mesoaxial synostotic with phalangeal reduction", + "MSSD", + "Syndactyly Malik-Percin type" + ] + }, + { + "gard_id": "GARD:0010591", + "name": "Chromosome 1q21.1 duplication syndrome", + "synonyms": [ + "1q21.1 microduplication syndrome" + ] + }, + { + "gard_id": "GARD:0010592", + "name": "Chromosome 19q13.11 deletion syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010593", + "name": "Transient infantile liver failure", + "synonyms": [ + "Acute infantile liver failure", + "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", + "Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" + ] + }, + { + "gard_id": "GARD:0010594", + "name": "Cerebral folate deficiency", + "synonyms": [ + "Cerebral folate deficiency syndrome", + "Neurodegeneration due to cerebral folate transport deficiency", + "Cerebral folate transport deficiency" + ] + }, + { + "gard_id": "GARD:0010595", + "name": "Bifid nose with or without anorectal and renal anomalies", + "synonyms": [ + "BNAR syndrome" + ] + }, + { + "gard_id": "GARD:0010596", + "name": "Androgen insensitivity syndrome, mild", + "synonyms": [ + "Mild androgen insensitivity syndrome", + "MAIS", + "Undervirilized male syndrome" + ] + }, + { + "gard_id": "GARD:0010597", + "name": "Complete androgen insensitivity syndrome", + "synonyms": [ + "CAIS", + "Androgen insensitivity syndrome, complete" + ] + }, + { + "gard_id": "GARD:0010598", + "name": "Carotid body tumor", + "synonyms": [ + "Carotid body paraganglioma", + "Carotid body tumors", + "CBT" + ] + }, + { + "gard_id": "GARD:0010599", + "name": "Glomus jugulare tumors", + "synonyms": [ + "Glomus tumor", + "Paraganglioma - glomus jugulare" + ] + }, + { + "gard_id": "GARD:0010601", + "name": "Pituitary hormone deficiency, combined 1", + "synonyms": [ + "CPHD1" + ] + }, + { + "gard_id": "GARD:0010602", + "name": "Combined pituitary hormone deficiencies, genetic forms", + "synonyms": [ + "Familial congenital hypopituitarism", + "Multiple pituitary hormone deficiencies, genetic forms" + ] + }, + { + "gard_id": "GARD:0010603", + "name": "Pituitary hormone deficiency, combined 3", + "synonyms": [ + "CPHD3", + "Winkelmann-Bethge-Pfeiffer syndrome", + "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome", + "Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" + ] + }, + { + "gard_id": "GARD:0010604", + "name": "Pituitary hormone deficiency, combined 4", + "synonyms": [ + "CPHD4", + "Pituitary hormone deficiency, combined with or without cerebellar defects", + "Short stature, pituitary and cerebellar defects and small sella turcica", + "Short stature-pituitary and cerebellar defects-small sella turcica syndrome" + ] + }, + { + "gard_id": "GARD:0010605", + "name": "Acrocapitofemoral dysplasia", + "synonyms": [ + "ACFD" + ] + }, + { + "gard_id": "GARD:0010606", + "name": "Dwarfism, proportionate with hip dislocation", + "synonyms": null + }, + { + "gard_id": "GARD:0010607", + "name": "Pituitary dwarfism with large sella turcica", + "synonyms": null + }, + { + "gard_id": "GARD:0010608", + "name": "Atelosteogenesis type 3", + "synonyms": [ + "AOIII", + "AO3" + ] + }, + { + "gard_id": "GARD:0010609", + "name": "Insulin-like growth factor 1 resistance to", + "synonyms": [ + "Somatomedin end-organ insensitivity to", + "Somatomedin-c resistance to", + "IGF-1 resistance" + ] + }, + { + "gard_id": "GARD:0010610", + "name": "Dwarfism familial with muscle spasms", + "synonyms": [ + "Familial dwarfism and painful muscle spasms" + ] + }, + { + "gard_id": "GARD:0010611", + "name": "Spondyloepimetaphyseal dysplasia Matrilin-3 related", + "synonyms": [ + "SEMD MATN3-related", + "Spondyloepimetaphyseal dysplasia Matrilin-3 type" + ] + }, + { + "gard_id": "GARD:0010613", + "name": "Chondrodysplasia calcificans metaphysealis", + "synonyms": null + }, + { + "gard_id": "GARD:0010614", + "name": "Adrenomyeloneuropathy", + "synonyms": [ + "AMN" + ] + }, + { + "gard_id": "GARD:0010615", + "name": "Hereditary hemorrhagic telangiectasia type 4", + "synonyms": [ + "HHT4" + ] + }, + { + "gard_id": "GARD:0010616", + "name": "Spondylometaepiphyseal dysplasia short limb-hand type", + "synonyms": [ + "SMED-SL", + "SMED short limb-hand type", + "SMED type 2", + "Spondylometaepiphyseal dysplasia short limb-abnormal calcification type", + "Smed short limb-abnormal calcification type", + "Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification", + "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" + ] + }, + { + "gard_id": "GARD:0010617", + "name": "Congenital cystic eye", + "synonyms": [ + "CCE" + ] + }, + { + "gard_id": "GARD:0010618", + "name": "Spondyloepimetaphyseal dysplasia Missouri type", + "synonyms": [ + "SEMD Missouri type", + "Missouri type of spondyloepimetaphyseal dysplasia", + "SEMD, Missouri type", + "Spondyloepimetaphyseal dysplasia type 2", + "Spondyloepimetaphyseal dysplasia, Missouri type" + ] + }, + { + "gard_id": "GARD:0010619", + "name": "Osteogenesis imperfecta type IX", + "synonyms": [ + "Oi type IX", + "OI 9", + "Osteogenesis imperfecta sillence type II/III without abnormality of type I collagen", + "Osteogenesis imperfecta type 9" + ] + }, + { + "gard_id": "GARD:0010620", + "name": "Smith McCort dysplasia", + "synonyms": [ + "Smith-McCort dwarfism" + ] + }, + { + "gard_id": "GARD:0010621", + "name": "Genochondromatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010622", + "name": "Metaphyseal dysplasia without hypotrichosis", + "synonyms": [ + "Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency", + "Cartilage-hair hypoplasia variant, skeletal manifestations only", + "CHHV" + ] + }, + { + "gard_id": "GARD:0010623", + "name": "Cleidocranial dysplasia recessive form", + "synonyms": [ + "Autosomal recessive form of cleidocranial dysostosis" + ] + }, + { + "gard_id": "GARD:0010624", + "name": "Autosomal dominant spondyloepiphyseal dysplasia tarda", + "synonyms": null + }, + { + "gard_id": "GARD:0010625", + "name": "Complement component 8 deficiency type 2", + "synonyms": [ + "Complement component 8 deficiency type II", + "C8 deficiency type II", + "C8 beta deficiency", + "Human complement C8-beta deficiency" + ] + }, + { + "gard_id": "GARD:0010626", + "name": "Complement component 8 deficiency type 1", + "synonyms": [ + "Complement component 8 deficiency type I", + "C8 deficiency type I", + "C8 alpha-gamma deficiency", + "C81 deficiency" + ] + }, + { + "gard_id": "GARD:0010627", + "name": "Insulin-like growth factor I deficiency", + "synonyms": [ + "IGF1 deficiency", + "Growth retardation with sensorineural deafness and mental retardation" + ] + }, + { + "gard_id": "GARD:0010628", + "name": "XFE progeroid syndrome", + "synonyms": [ + "XPF-ERCC1 progeroid syndrome" + ] + }, + { + "gard_id": "GARD:0010629", + "name": "Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech", + "synonyms": [ + "SED-BDS", + "Fantasy Island syndrome", + "Tattoo dysplasia" + ] + }, + { + "gard_id": "GARD:0010630", + "name": "Tufting enteropathy", + "synonyms": [ + "IED", + "Intestinal epithelial dysplasia", + "Congenital enteropathy", + "Congenital familial intractable diarrhea with enterocytes assembly abnormalities" + ] + }, + { + "gard_id": "GARD:0010631", + "name": "Pleomorphic xanthoastrocytoma", + "synonyms": [ + "PXA" + ] + }, + { + "gard_id": "GARD:0010632", + "name": "Subependymal giant cell astrocytoma", + "synonyms": [ + "SEGA" + ] + }, + { + "gard_id": "GARD:0010633", + "name": "Myxopapillary ependymoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010634", + "name": "Anaplastic ependymoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010635", + "name": "Astroblastoma", + "synonyms": [ + "Cerebral astroblastoma" + ] + }, + { + "gard_id": "GARD:0010636", + "name": "Chordoid glioma of the third ventricle", + "synonyms": null + }, + { + "gard_id": "GARD:0010637", + "name": "Anaplastic oligoastrocytoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010638", + "name": "Gangliocytoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010639", + "name": "Anaplastic ganglioglioma", + "synonyms": null + }, + { + "gard_id": "GARD:0010640", + "name": "Dysembryoplastic neuroepithelial tumor", + "synonyms": null + }, + { + "gard_id": "GARD:0010641", + "name": "Central neurocytoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010642", + "name": "Cerebellar liponeurocytoma", + "synonyms": [ + "Lipomatous medulloblastoma (formerly)" + ] + }, + { + "gard_id": "GARD:0010643", + "name": "Paraganglioma and gastric stromal sarcoma", + "synonyms": [ + "Carney-Stratakis syndrome", + "Paraganglioma and gastrointestinal stromal tumor", + "Paraganglioma and GIST", + "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma", + "Carney dyad" + ] + }, + { + "gard_id": "GARD:0010644", + "name": "Pineal parenchymal tumors of intermediate differentiation", + "synonyms": [ + "PPTID" + ] + }, + { + "gard_id": "GARD:0010646", + "name": "Teratoma with malignant transformation", + "synonyms": null + }, + { + "gard_id": "GARD:0010647", + "name": "Spondylometaphyseal dysplasia with cone-rod dystrophy", + "synonyms": [ + "SMD-CRD" + ] + }, + { + "gard_id": "GARD:0010648", + "name": "Retinal cone dystrophy 3A", + "synonyms": [ + "RCD3A", + "Cone dystrophy with night blindness and supernormal rod responses PDE6H-related" + ] + }, + { + "gard_id": "GARD:0010649", + "name": "Retinal cone dystrophy 3B", + "synonyms": [ + "RCD3B", + "Cone dystrophy with night blindness and supernormal rod responses KCNV2 related" + ] + }, + { + "gard_id": "GARD:0010650", + "name": "Retinal cone dystrophy 4", + "synonyms": [ + "RCD4" + ] + }, + { + "gard_id": "GARD:0010651", + "name": "Cone-rod dystrophy 1", + "synonyms": [ + "CORD1" + ] + }, + { + "gard_id": "GARD:0010652", + "name": "Cone-rod dystrophy X-linked 1", + "synonyms": [ + "CORDX1", + "Cone dystrophy X-linked 1", + "COD1" + ] + }, + { + "gard_id": "GARD:0010653", + "name": "Cone-rod dystrophy 3", + "synonyms": [ + "CORD3" + ] + }, + { + "gard_id": "GARD:0010654", + "name": "Cone-rod dystrophy X-linked 3", + "synonyms": [ + "CORDX3" + ] + }, + { + "gard_id": "GARD:0010655", + "name": "Cone-rod dystrophy 5", + "synonyms": [ + "CORD5" + ] + }, + { + "gard_id": "GARD:0010656", + "name": "Cone-rod dystrophy 6", + "synonyms": null + }, + { + "gard_id": "GARD:0010657", + "name": "Maturity-onset diabetes of the young, type 2", + "synonyms": [ + "MODY2", + "MODY type 2", + "Diabetes mellitus MODY type 2", + "Type 2 maturity-onset diabetes of the young", + "MODY glucokinase-related" + ] + }, + { + "gard_id": "GARD:0010658", + "name": "Maturity-onset diabetes of the young, type 3", + "synonyms": [ + "MODY3", + "MODY type 3", + "Diabetes mellitus MODY type 3", + "Type 3 maturity-onset diabetes of the young", + "MODY hepatocyte nuclear factor-1-alpha related" + ] + }, + { + "gard_id": "GARD:0010659", + "name": "Maturity-onset diabetes of the young, type 4", + "synonyms": [ + "MODY4", + "MODY type 4", + "Diabetes mellitus MODY type 4", + "Type 4 maturity-onset diabetes of the young", + "MODY insulin promoter factor-1 related" + ] + }, + { + "gard_id": "GARD:0010660", + "name": "Maturity-onset diabetes of the young, type 6", + "synonyms": [ + "MODY6", + "MODY type 6", + "Type 6 maturity-onset diabetes of the young", + "Diabetes mellitus MODY type 6", + "MODY NEUROD1 related" + ] + }, + { + "gard_id": "GARD:0010661", + "name": "Maturity-onset diabetes of the young, type 7", + "synonyms": [ + "MODY7", + "MODY type 7", + "Type 7 maturity-onset diabetes of the young", + "Diabetes mellitus MODY type 7", + "MODY KLF11 related" + ] + }, + { + "gard_id": "GARD:0010662", + "name": "Maturity-onset diabetes of the young, type 8", + "synonyms": [ + "Maturity-onset diabetes of the young, type 8, with exocrine dysfunction", + "MODY8", + "Diabetes and pancreatic exocrine dysfunction", + "DPED", + "Diabetes-pancreatic exocrine dysfunction syndrome", + "Type 8 maturity-onset diabetes of the young", + "Diabetes mellitus MODY type 8" + ] + }, + { + "gard_id": "GARD:0010663", + "name": "Maturity-onset diabetes of the young, type 9", + "synonyms": [ + "MODY9", + "MODY type 9", + "Type 9 maturity-onset diabetes of the young", + "Diabetes mellitus MODY type 9", + "MODY PAX4 related" + ] + }, + { + "gard_id": "GARD:0010664", + "name": "Baroreflex failure", + "synonyms": null + }, + { + "gard_id": "GARD:0010665", + "name": "Familial bilateral striatal necrosis", + "synonyms": [ + "FBSN" + ] + }, + { + "gard_id": "GARD:0010666", + "name": "Dihydroxyadeninuria", + "synonyms": [ + "APRT deficiency" + ] + }, + { + "gard_id": "GARD:0010667", + "name": "DYT-GNAL", + "synonyms": [ + "Adult onset cranial-cervical dystonia", + "Dystonia-25", + "DYT25", + "Autosomal dominant focal dystonia, DYT25 type" + ] + }, + { + "gard_id": "GARD:0010668", + "name": "Cervical dystonia", + "synonyms": [ + "Spasmodic torticollis" + ] + }, + { + "gard_id": "GARD:0010670", + "name": "Glycoproteinosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010671", + "name": "Mucoepidermoid carcinoma", + "synonyms": [ + "C3772" + ] + }, + { + "gard_id": "GARD:0010673", + "name": "Cardioencephalomyopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0010674", + "name": "Metachromatic leukodystrophy due to saposin B deficiency", + "synonyms": [ + "Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency" + ] + }, + { + "gard_id": "GARD:0010675", + "name": "Gaucher disease perinatal lethal", + "synonyms": [ + "Gaucher disease collodion type", + "Gaucher disease, perinatal-lethal form", + "Perinatal lethal Gaucher disease" + ] + }, + { + "gard_id": "GARD:0010679", + "name": "Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations", + "synonyms": [ + "Medullary cystic kidney disease 2 (former)", + "ADTKD-UMOD", + "Autosomal dominant medullary cystic kidney disease type 2 (former)", + "UMOD-related ADTKD", + "Familial Juvenile Hyperuricemic Nephropathy 1", + "UMOD-Associated Kidney Disease", + "Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related", + "Uromodulin kidney disease", + "ADTKD due to UMOD mutations", + "Uromodulin-associated kidney disease", + "Autosomal dominant medullary cystic kidney disease type 2", + "MCKD2", + "UMOD-related autosomal dominant tubulointerstitial kidney disease", + "Familial juvenile hyperuricemic nephropathy type 1" + ] + }, + { + "gard_id": "GARD:0010680", + "name": "Pseudohypoparathyroidism type 1B", + "synonyms": [ + "PHP1B" + ] + }, + { + "gard_id": "GARD:0010681", + "name": "Pseudohypoparathyroidism type 1C", + "synonyms": [ + "PHP1C" + ] + }, + { + "gard_id": "GARD:0010682", + "name": "Pseudohypoparathyroidism type 2", + "synonyms": [ + "PHP2", + "PHP II" + ] + }, + { + "gard_id": "GARD:0010684", + "name": "Primary lateral sclerosis", + "synonyms": [ + "Adult-onset PLS", + "Adult-onset primary lateral sclerosis" + ] + }, + { + "gard_id": "GARD:0010685", + "name": "Chilaiditi syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010686", + "name": "Neuroferritinopathy", + "synonyms": [ + "Ferritin-related neurodegeneration", + "Basal ganglia disease adult-onset" + ] + }, + { + "gard_id": "GARD:0010687", + "name": "Mungan syndrome", + "synonyms": [ + "MGS", + "Visceral neuromyopathy familial with pseudoobstruction megaduodenum barrett esophagus and cardiac abnormalities", + "Pseudoobstruction chronic idiopathic intestinal with barrett esophagus and cardiac abnormalities" + ] + }, + { + "gard_id": "GARD:0010688", + "name": "Karak syndrome", + "synonyms": [ + "Early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline", + "Atypical neuroaxonal dystrophy" + ] + }, + { + "gard_id": "GARD:0010689", + "name": "Megarbane Jalkh syndrome", + "synonyms": [ + "Developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure" + ] + }, + { + "gard_id": "GARD:0010692", + "name": "Orofaciodigital syndromes", + "synonyms": [ + "Orofaciodigital syndrome", + "Oral-facial-digital syndromes", + "Oral facial digital syndromes", + "OFD", + "Oral-facial-digital syndrome" + ] + }, + { + "gard_id": "GARD:0010693", + "name": "Orofaciodigital syndrome 12", + "synonyms": [ + "Oral-facial-digital syndrome 12", + "Oral facial digital syndrome 12", + "Orofaciodigital syndrome XII", + "Oral facial digital syndrome type 12", + "Moran-Barroso Syndrome", + "OFDS 12", + "OFD12", + "Oral-facial-digital syndrome type 12", + "Orofaciodigital syndrome type 12" + ] + }, + { + "gard_id": "GARD:0010694", + "name": "Orofaciodigital syndrome 13", + "synonyms": [ + "Oral-facial-digital syndrome 13", + "Oral facial digital syndrome 13", + "Oral facial digital syndrome type 13", + "Orofaciodigital syndrome XIII", + "Degner syndrome", + "Oral-facial-digital syndrome XIII", + "OFDS 13", + "OFD13", + "Oral-facial-digital syndrome type 13", + "OFD syndrome 13", + "Orofaciodigital syndrome type 13" + ] + }, + { + "gard_id": "GARD:0010695", + "name": "Atrial septal defect ostium primum", + "synonyms": [ + "ASD ostium primum type", + "Ostium primum ASD" + ] + }, + { + "gard_id": "GARD:0010696", + "name": "Atrial septal defect sinus venosus", + "synonyms": [ + "Sinus venosus atrial septal defects", + "Sinus venosus ASD" + ] + }, + { + "gard_id": "GARD:0010697", + "name": "Atrial septal defect coronary sinus", + "synonyms": [ + "ASD coronary sinus", + "Coronary sinus atrial septal defects" + ] + }, + { + "gard_id": "GARD:0010698", + "name": "Noonan syndrome 2", + "synonyms": [ + "NS2", + "Noonan syndrome autosomal recessive", + "Autosomal recessive Noonan syndrome" + ] + }, + { + "gard_id": "GARD:0010699", + "name": "Noonan syndrome 4", + "synonyms": [ + "NS4", + "SOS1 gene related Noonan syndrome" + ] + }, + { + "gard_id": "GARD:0010700", + "name": "Noonan syndrome 5", + "synonyms": [ + "NS5", + "RAF1 gene related Noonan syndrome" + ] + }, + { + "gard_id": "GARD:0010701", + "name": "Noonan syndrome 6", + "synonyms": [ + "NS6", + "NRAS gene related Noonan syndrome" + ] + }, + { + "gard_id": "GARD:0010702", + "name": "Gestational diabetes insipidus", + "synonyms": [ + "Diabetes insipidus gestational", + "Gestagenic diabetes insipidus" + ] + }, + { + "gard_id": "GARD:0010703", + "name": "Dipsogenic diabetes insipidus", + "synonyms": [ + "Primary polydipsia" + ] + }, + { + "gard_id": "GARD:0010704", + "name": "Pontocerebellar hypoplasia type 1", + "synonyms": [ + "Pontocerebellar hypoplasia with infantile spinal muscular atrophy", + "Pontocerebellar hypoplasia with anterior horn cell disease" + ] + }, + { + "gard_id": "GARD:0010705", + "name": "Pontocerebellar hypoplasia type 2", + "synonyms": [ + "Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy", + "PCH2" + ] + }, + { + "gard_id": "GARD:0010706", + "name": "Hypermanganesemia with dystonia polycythemia and cirrhosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010707", + "name": "Deafness with labyrinthine aplasia microtia and microdontia (LAMM)", + "synonyms": [ + "Deafness congenital with inner ear agenesis microtia and microdontia", + "Deafness with LAMM", + "Congenital deafness with inner ear agenesis microtia and microdontia", + "LAMM syndrome" + ] + }, + { + "gard_id": "GARD:0010708", + "name": "Pontocerebellar hypoplasia type 3", + "synonyms": [ + "Cerebellar atrophy with progressive microcephaly", + "CLAM", + "PCH with optic atrophy" + ] + }, + { + "gard_id": "GARD:0010709", + "name": "Pontocerebellar hypoplasia type 5", + "synonyms": [ + "Olivopontocerebellar hypoplasia fetal-onset" + ] + }, + { + "gard_id": "GARD:0010710", + "name": "Pontocerebellar hypoplasia type 6", + "synonyms": [ + "Encephalopathy fatal infantile with mitochondrial respiratory chain defects" + ] + }, + { + "gard_id": "GARD:0010712", + "name": "Progressive transformation of germinal centers", + "synonyms": [ + "PTGC" + ] + }, + { + "gard_id": "GARD:0010713", + "name": "Pudendal Neuralgia", + "synonyms": null + }, + { + "gard_id": "GARD:0010714", + "name": "Legius syndrome", + "synonyms": [ + "Neurofibromatosis type 1 like syndrome" + ] + }, + { + "gard_id": "GARD:0010715", + "name": "Diploid-triploid mosaicism", + "synonyms": [ + "Diploid/triploid mosaicism", + "Diploid/triploid mixoploidy", + "Mosaic triploidy" + ] + }, + { + "gard_id": "GARD:0010716", + "name": "HSD10 disease", + "synonyms": [ + "HSD10 deficiency", + "3H2MBD deficiency", + "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency", + "Hydroxyacyl-CoA dehydrogenase II deficiency", + "2M3HBA", + "17 beta-hydroxysteroid dehydrogenase type 10 deficiency", + "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency", + "MHBD deficiency", + "HSD10 mitochondrial disease", + "2-methyl-3-hydroxybutyric aciduria" + ] + }, + { + "gard_id": "GARD:0010717", + "name": "Hydroxyprolinemia", + "synonyms": [ + "4-hydroxy-L-proline oxidase deficiency", + "4 alpha hydroxy-L-proline oxidase deficiency" + ] + }, + { + "gard_id": "GARD:0010718", + "name": "Heinz body anemias", + "synonyms": null + }, + { + "gard_id": "GARD:0010719", + "name": "Noonan-like syndrome with loose anagen hair", + "synonyms": null + }, + { + "gard_id": "GARD:0010720", + "name": "Trichuriasis", + "synonyms": [ + "Whipworm infection", + "Trichocephaliasis" + ] + }, + { + "gard_id": "GARD:0010721", + "name": "Kingella infections", + "synonyms": null + }, + { + "gard_id": "GARD:0010722", + "name": "Monkeypox", + "synonyms": [ + "Monkeypox virus infection" + ] + }, + { + "gard_id": "GARD:0010725", + "name": "Odontogenic myxoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010726", + "name": "Spondylocostal dysostosis 1", + "synonyms": [ + "SCDO1", + "Spondylocostal dysostosis 1 autosomal recessive" + ] + }, + { + "gard_id": "GARD:0010727", + "name": "Koolen de Vries syndrome", + "synonyms": [ + "17q21.31 deletion syndrome", + "Monosomy 17q21.31", + "Microdeletion 17q21.31 syndrome", + "Chromosome 17q21.31 microdeletion syndrome", + "17q21.31 microdeletion syndrome", + "KANSL1-Related Intellectual Disability Syndrome" + ] + }, + { + "gard_id": "GARD:0010729", + "name": "Niemann-Pick disease type B", + "synonyms": [ + "Niemann Pick disease type B" + ] + }, + { + "gard_id": "GARD:0010730", + "name": "Pyridoxal 5'-phosphate-dependent epilepsy", + "synonyms": [ + "Pyridoxine-5'-phosphate oxidase deficiency", + "PNPO Deficiency", + "Pyridoxamine 5-prime-phosphate oxidase deficiency", + "PNPO-related neonatal epileptic encephalopathy" + ] + }, + { + "gard_id": "GARD:0010731", + "name": "McLeod neuroacanthocytosis syndrome", + "synonyms": [ + "McLeod syndrome", + "X-linked McLeod syndrome" + ] + }, + { + "gard_id": "GARD:0010732", + "name": "Leukoencephalopathy, cerebral calcifications, and cysts", + "synonyms": [ + "LCC" + ] + }, + { + "gard_id": "GARD:0010733", + "name": "Intravascular papillary endothelial hyperplasia", + "synonyms": [ + "Masson's tumor", + "Masson's vegetant intravascular hemangio-endothelioma", + "Masson's pseudoangiosarcoma" + ] + }, + { + "gard_id": "GARD:0010734", + "name": "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome", + "synonyms": [ + "DICER1-related pleuropulmonary blastoma", + "DICER1 syndrome" + ] + }, + { + "gard_id": "GARD:0010737", + "name": "Posner-Schlossman syndrome", + "synonyms": [ + "Glaucomatocyclitic crisis" + ] + }, + { + "gard_id": "GARD:0010738", + "name": "Primary hyperoxaluria type 3", + "synonyms": [ + "PH III" + ] + }, + { + "gard_id": "GARD:0010739", + "name": "Neuronal ceroid lipofuscinosis", + "synonyms": [ + "Batten disease", + "NCL" + ] + }, + { + "gard_id": "GARD:0010740", + "name": "16p11.2 deletion syndrome", + "synonyms": [ + "Chromosome 16p11.2 deletion syndrome", + "Del(16)(p11.2)", + "Monosomy 16p11.2", + "Microdeletion 16p11.2" + ] + }, + { + "gard_id": "GARD:0010743", + "name": "Persistent genital arousal disorder", + "synonyms": [ + "Persistent genital arousal", + "PGAD" + ] + }, + { + "gard_id": "GARD:0010744", + "name": "Conjunctival melanoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010747", + "name": "Lupus nephritis", + "synonyms": null + }, + { + "gard_id": "GARD:0010748", + "name": "Spinocerebellar ataxia", + "synonyms": [ + "SCA" + ] + }, + { + "gard_id": "GARD:0010749", + "name": "Chromhidrosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010750", + "name": "Diffuse cavernous hemangioma of the rectum", + "synonyms": [ + "Cavernous haemangioma of the rectum" + ] + }, + { + "gard_id": "GARD:0010752", + "name": "Epidermolysis bullosa simplex", + "synonyms": [ + "Epidermolysis bullosa intraepidermic" + ] + }, + { + "gard_id": "GARD:0010753", + "name": "Pachyonychia congenita", + "synonyms": [ + "Congenital pachyonychia", + "Pachyonychia congenita syndrome" + ] + }, + { + "gard_id": "GARD:0010754", + "name": "Chromosome 16p13.3 deletion syndrome", + "synonyms": [ + "16p13.3 deletion syndrome" + ] + }, + { + "gard_id": "GARD:0010755", + "name": "Chromosome 16p13.3 duplication", + "synonyms": [ + "16p13.3 duplication", + "Interstitial 16p13.3 duplication", + "16p13.3 microduplication syndrome", + "Distal duplication 16p", + "Distal trisomy 16p", + "Dup(16)(p13.3)", + "Telomeric duplication 16p", + "Trisomy 16pter" + ] + }, + { + "gard_id": "GARD:0010756", + "name": "Multiple epiphyseal dysplasia", + "synonyms": [ + "MED", + "Epiphyseal dysplasia, multiple", + "EDM" + ] + }, + { + "gard_id": "GARD:0010757", + "name": "Exogenous ochronosis", + "synonyms": [ + "Ochronosis, acquired" + ] + }, + { + "gard_id": "GARD:0010758", + "name": "Pseudohypoparathyroidism", + "synonyms": null + }, + { + "gard_id": "GARD:0010760", + "name": "Glycogen storage disease type 0, muscle", + "synonyms": [ + "Muscle glycogen synthase deficiency" + ] + }, + { + "gard_id": "GARD:0010761", + "name": "2-Hydroxyglutaric aciduria", + "synonyms": null + }, + { + "gard_id": "GARD:0010762", + "name": "ACDC", + "synonyms": [ + "Arterial calcification due to CD73 deficiency", + "Arterial calcification due to deficiency of CD73", + "Calcification of joints and arteries; CALJA", + "Arterial calcification and distal joint calcification" + ] + }, + { + "gard_id": "GARD:0010764", + "name": "Glycine N-methyltransferase deficiency", + "synonyms": [ + "GNMT deficiency", + "Hypermethioninemia due to GNMT deficiency", + "Hypermethioninemia due to glycine N-methyltransferase deficiency" + ] + }, + { + "gard_id": "GARD:0010766", + "name": "Factor XIII deficiency", + "synonyms": [ + "Congenital Factor XIII deficiency", + "Fibrin stabilizing factor deficiency" + ] + }, + { + "gard_id": "GARD:0010767", + "name": "MOGS-CDG (CDG-IIb)", + "synonyms": [ + "CDG 2B", + "CDG2B", + "Congenital disorder of glycosylation, type IIb", + "Congenital disorder of glycosylation type IIB", + "CDG-IIb", + "CDG syndrome type IIb", + "Congenital disorder of glycosylation type 2b", + "Glucosidase 1 deficiency", + "Carbohydrate deficient glycoprotein syndrome type IIb", + "GCS1-CDG", + "MOGS-CDG" + ] + }, + { + "gard_id": "GARD:0010768", + "name": "Familiar or sporadic hemiplegic migraine", + "synonyms": null + }, + { + "gard_id": "GARD:0010769", + "name": "Laing distal myopathy", + "synonyms": [ + "Laing early-onset distal myopathy", + "Myopathy distal, type 1" + ] + }, + { + "gard_id": "GARD:0010770", + "name": "Homocystinuria", + "synonyms": null + }, + { + "gard_id": "GARD:0010771", + "name": "Kallmann syndrome", + "synonyms": [ + "Kallmann's syndrome", + "Anosmic hypogonadism", + "Anosmic idiopathic hypogonadotropic hypogonadism", + "Hypogonadotropic hypogonadism and anosmia", + "Hypogonadotropic hypogonadism-anosmia syndrome", + "Dysplasia olfactogenitalis of De Morsier (formerly)", + "Olfacto-genital pathological sequence" + ] + }, + { + "gard_id": "GARD:0010772", + "name": "Kallmann syndrome 4", + "synonyms": [ + "KAL4" + ] + }, + { + "gard_id": "GARD:0010773", + "name": "Kallmann syndrome 5", + "synonyms": [ + "KAL5" + ] + }, + { + "gard_id": "GARD:0010774", + "name": "Kallmann syndrome 6", + "synonyms": [ + "KAL6" + ] + }, + { + "gard_id": "GARD:0010775", + "name": "ITCH E3 ubiquitin ligase deficiency", + "synonyms": [ + "Syndromic multisystem autoimmune disease", + "Autoimmune disease, syndromic multisystem" + ] + }, + { + "gard_id": "GARD:0010776", + "name": "Benign metastasizing leiomyoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010777", + "name": "Benign multicystic peritoneal mesothelioma", + "synonyms": [ + "BMPM", + "Benign cystic peritoneal mesothelioma", + "Multilocular peritoneal inclusion cysts", + "Multilocular peritoneal cysts" + ] + }, + { + "gard_id": "GARD:0010778", + "name": "Neutrophil-specific granule deficiency", + "synonyms": [ + "Specific granule deficiency", + "Recurrent infection due to specific granule deficiency", + "Lactoferrin-deficient neutrophils", + "Neutrophil lactoferrin deficiency" + ] + }, + { + "gard_id": "GARD:0010779", + "name": "Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids", + "synonyms": [ + "CLIPPERS" + ] + }, + { + "gard_id": "GARD:0010780", + "name": "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia", + "synonyms": [ + "DIPNECH" + ] + }, + { + "gard_id": "GARD:0010781", + "name": "Goldmann-Favre syndrome", + "synonyms": [ + "Enhanced S-cone syndrome", + "Retinoschisis with early hemeralopia", + "Favre hyaloideoretinal degeneration" + ] + }, + { + "gard_id": "GARD:0010782", + "name": "Stickler syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010783", + "name": "Bilateral frontal polymicrogyria", + "synonyms": null + }, + { + "gard_id": "GARD:0010784", + "name": "Bilateral frontoparietal polymicrogyria", + "synonyms": [ + "BFPP", + "Cerebellar ataxia with neuronal migration defect" + ] + }, + { + "gard_id": "GARD:0010785", + "name": "Bilateral parasagittal parieto-occipital polymicrogyria", + "synonyms": null + }, + { + "gard_id": "GARD:0010786", + "name": "Bilateral generalized polymicrogyria", + "synonyms": [ + "Bilateral generalised polymicrogyria" + ] + }, + { + "gard_id": "GARD:0010788", + "name": "Loeys-Dietz syndrome", + "synonyms": [ + "Loeys-Dietz aortic aneurysm syndrome", + "Aortic aneurysm syndrome, Loeys-Dietz type" + ] + }, + { + "gard_id": "GARD:0010790", + "name": "Cone-rod dystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0010791", + "name": "Logopenic progressive aphasia", + "synonyms": [ + "LPA", + "Logopenic primary progressive aphasia", + "Logopenic variant PPA" + ] + }, + { + "gard_id": "GARD:0010792", + "name": "Semantic dementia", + "synonyms": [ + "Semantic primary progressive aphasia", + "Semantic variant PPA" + ] + }, + { + "gard_id": "GARD:0010793", + "name": "Progressive non-fluent aphasia", + "synonyms": [ + "Non-fluent primary progressive aphasia", + "Non-fluent variant PPA" + ] + }, + { + "gard_id": "GARD:0010794", + "name": "Paroxysmal hemicrania", + "synonyms": null + }, + { + "gard_id": "GARD:0010795", + "name": "Hemicrania continua", + "synonyms": null + }, + { + "gard_id": "GARD:0010796", + "name": "Hypnic headache", + "synonyms": null + }, + { + "gard_id": "GARD:0010797", + "name": "New daily-persistent headache", + "synonyms": [ + "NDPH" + ] + }, + { + "gard_id": "GARD:0010798", + "name": "Thunderclap headache", + "synonyms": [ + "Benign thunderclap headache" + ] + }, + { + "gard_id": "GARD:0010799", + "name": "Cough headache", + "synonyms": [ + "Primary cough headache" + ] + }, + { + "gard_id": "GARD:0010800", + "name": "Exertional headache", + "synonyms": [ + "Primary Exertional Headache", + "Primary headache associated with sexual activity" + ] + }, + { + "gard_id": "GARD:0010801", + "name": "Autosomal dominant tubulointerstitial kidney disease", + "synonyms": [ + "Autosomal dominant medullary cystic kidney disease (former)", + "ADTKD", + "Autosomal dominant medullary cystic kidney disease", + "MCKD" + ] + }, + { + "gard_id": "GARD:0010802", + "name": "Intravenous leiomyomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010803", + "name": "Lamellar ichthyosis", + "synonyms": [ + "Congenital lamellar ichthyosis", + "LI" + ] + }, + { + "gard_id": "GARD:0010804", + "name": "Metaplastic carcinoma of the breast", + "synonyms": [ + "Metaplastic breast cancer" + ] + }, + { + "gard_id": "GARD:0010805", + "name": "MYH-associated polyposis", + "synonyms": [ + "MAP syndrome", + "Autosomal recessive familial adenomatous polyposis", + "Autosomal recessive multiple colorectal adenomas" + ] + }, + { + "gard_id": "GARD:0010806", + "name": "PCDH19-related female-limited epilepsy", + "synonyms": [ + "EFMR", + "Epilepsy and mental retardation limited to females", + "Female restricted epilepsy with intellectual deficit", + "Epileptic encephalopathy, early infantile, 9", + "EIEE9", + "Juberg-Hellman syndrome", + "Epilepsy, female restricted, with mental retardation", + "PCDH19-related FLE", + "Familial epilepsy and mental retardation limited to females", + "PCDH19-related infantile epileptic encephalopathy" + ] + }, + { + "gard_id": "GARD:0010807", + "name": "Infantile scoliosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010808", + "name": "Insulin autoimmune syndrome", + "synonyms": [ + "Hirata disease", + "Insulin autoimmune hypoglycemia" + ] + }, + { + "gard_id": "GARD:0010809", + "name": "Postorgasmic illness syndrome", + "synonyms": [ + "POIS", + "Post orgasmic sick syndrome", + "Post-orgasmic illness syndrome" + ] + }, + { + "gard_id": "GARD:0010810", + "name": "Fatty acid hydroxylase-associated neurodegeneration", + "synonyms": [ + "FAHN", + "Spastic paraplegia 35, autosomal recessive", + "SPG35" + ] + }, + { + "gard_id": "GARD:0010811", + "name": "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature", + "synonyms": [ + "CANDLE syndrome", + "Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" + ] + }, + { + "gard_id": "GARD:0010813", + "name": "1q21.1 microdeletion syndrome", + "synonyms": [ + "Chromosome 1q21.1 microdeletion syndrome", + "1q21.1 microdeletion", + "Monosomy 1q21.1" + ] + }, + { + "gard_id": "GARD:0010814", + "name": "Thyrotoxic periodic paralysis", + "synonyms": null + }, + { + "gard_id": "GARD:0010815", + "name": "Prothrombin-related thrombophilia", + "synonyms": [ + "Prothrombin 20210G>A thrombophilia", + "Hyperprothrombinemia", + "Prothrombin G20210A thrombophilia", + "Factor II-related thrombophilia", + "Thrombophilia due to factor 2 defect", + "F2-Related Thrombophilia", + "Prothrombin thrombophilia" + ] + }, + { + "gard_id": "GARD:0010816", + "name": "Lichen planus pigmentosus", + "synonyms": [ + "LP pigmentosus", + "Lichen planus pigmentosa", + "LP pigmentosa", + "Lichen planus pigmentosus inversus" + ] + }, + { + "gard_id": "GARD:0010817", + "name": "Spastic paraplegia 31", + "synonyms": [ + "SPG31", + "Spastic paraplegia 31, autosomal dominant" + ] + }, + { + "gard_id": "GARD:0010818", + "name": "Combined malonic and methylmalonic aciduria", + "synonyms": [ + "CMAMMA", + "Combined malonic and methylmalonic acidemia" + ] + }, + { + "gard_id": "GARD:0010819", + "name": "Sickle delta beta thalassemia", + "synonyms": null + }, + { + "gard_id": "GARD:0010820", + "name": "California encephalitis", + "synonyms": null + }, + { + "gard_id": "GARD:0010821", + "name": "Eastern equine encephalitis", + "synonyms": [ + "EEE", + "Triple E" + ] + }, + { + "gard_id": "GARD:0010822", + "name": "Spontaneous coronary artery dissection", + "synonyms": null + }, + { + "gard_id": "GARD:0010823", + "name": "Proopiomelanocortin deficiency", + "synonyms": [ + "Obesity, early-onset, adrenal insufficiency, and red hair", + "POMC deficiency", + "Obesity due to pro-opiomelanocortin deficiency" + ] + }, + { + "gard_id": "GARD:0010824", + "name": "ACTH-independent macronodular adrenal hyperplasia", + "synonyms": [ + "AIMAH", + "Massive macronodular adrenocortical disease", + "MMAD", + "Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia", + "Corticotropin-independent macronodular adrenal hyperplasia", + "ACTH-independent macronodular adrenocortical hyperplasia", + "Primary macronodular adrenal hyperplasia" + ] + }, + { + "gard_id": "GARD:0010826", + "name": "Central centrifugal cicatricial alopecia", + "synonyms": [ + "Central centrifugal alopecia" + ] + }, + { + "gard_id": "GARD:0010827", + "name": "KSHV inflammatory cytokine syndrome", + "synonyms": [ + "KICS" + ] + }, + { + "gard_id": "GARD:0010828", + "name": "Familial hypocalciuric hypercalcemia", + "synonyms": [ + "Familial benign hypercalcemia", + "FBH", + "FBHH", + "FHH" + ] + }, + { + "gard_id": "GARD:0010829", + "name": "Hyperparathyroidism-jaw tumor syndrome", + "synonyms": [ + "HPT-JT", + "Hyperparathyroidism 2", + "HRPT2", + "Familial primary hyperparathyroidism with multiple ossifying jaw fibromas", + "Hereditary hyperparathyroidism-jaw tumor syndrome" + ] + }, + { + "gard_id": "GARD:0010830", + "name": "Nevus of Ito", + "synonyms": [ + "Nevi of Ito" + ] + }, + { + "gard_id": "GARD:0010831", + "name": "1q duplications", + "synonyms": [ + "Partial trisomy 1q", + "Partial duplication of the long arm of chromosome 1", + "Partial duplication of chromosome 1q", + "Partial trisomy of chromosome 1q", + "Partial trisomy of the long arm of chromosome 1" + ] + }, + { + "gard_id": "GARD:0010832", + "name": "Chromosome 1p duplication", + "synonyms": [ + "Duplication 1p", + "Trisomy 1p", + "1p duplication", + "1p trisomy", + "Partial trisomy 1p" + ] + }, + { + "gard_id": "GARD:0010833", + "name": "Chromosome 19q deletion", + "synonyms": [ + "19q deletion", + "19q monosomy", + "Deletion 19q", + "Monosomy 19q", + "Partial monosomy 19q" + ] + }, + { + "gard_id": "GARD:0010834", + "name": "Chromosome 19p duplication", + "synonyms": [ + "Duplication 19p", + "Trisomy 19p", + "19p duplication", + "19p trisomy", + "Partial trisomy 19p" + ] + }, + { + "gard_id": "GARD:0010835", + "name": "Chromosome 19p deletion", + "synonyms": [ + "Deletion 19p", + "Monosomy 19p", + "19p deletion", + "19p monosomy", + "Partial monosomy 19p" + ] + }, + { + "gard_id": "GARD:0010836", + "name": "Chromosome 2p deletion", + "synonyms": [ + "Deletion 2p", + "Monosomy 2p", + "2p deletion", + "2p monosomy", + "Partial monosomy 2p" + ] + }, + { + "gard_id": "GARD:0010837", + "name": "Ring chromosome 2", + "synonyms": [ + "Chromosome 2 ring", + "Ring 2", + "R2" + ] + }, + { + "gard_id": "GARD:0010838", + "name": "Chromosome 3q deletion", + "synonyms": [ + "Deletion 3q", + "Monosomy 3q", + "3q deletion", + "3q monosomy", + "Partial monosomy 3q" + ] + }, + { + "gard_id": "GARD:0010839", + "name": "Ring chromosome 3", + "synonyms": [ + "Chromosome 3 ring", + "Ring 3", + "R3" + ] + }, + { + "gard_id": "GARD:0010840", + "name": "Chromosome 5q deletion", + "synonyms": [ + "Deletion 5q", + "Monosomy 5q", + "5q deletion", + "5q monosomy", + "Partial monosomy 5q" + ] + }, + { + "gard_id": "GARD:0010841", + "name": "Ring chromosome 5", + "synonyms": [ + "Chromosome 5 ring", + "Ring 5", + "R5" + ] + }, + { + "gard_id": "GARD:0010842", + "name": "Chromosome 5p deletion", + "synonyms": [ + "Deletion 5p", + "Monosomy 5p", + "5p deletion", + "5p monosomy", + "Partial monosomy 5p" + ] + }, + { + "gard_id": "GARD:0010843", + "name": "Chromosome 6p deletion", + "synonyms": [ + "Deletion 6p", + "Monosomy 6p", + "6p deletion", + "6p monosomy", + "Partial monosomy 6p" + ] + }, + { + "gard_id": "GARD:0010844", + "name": "Chromosome 9q deletion", + "synonyms": [ + "Deletion 9q", + "Monosomy 9q", + "9q deletion", + "9q monosomy", + "Partial monosomy 9q" + ] + }, + { + "gard_id": "GARD:0010845", + "name": "Chromosome 11p duplication", + "synonyms": [ + "Duplication 11p", + "Trisomy 11p", + "11p duplication", + "11p trisomy" + ] + }, + { + "gard_id": "GARD:0010846", + "name": "Ring chromosome 11", + "synonyms": [ + "Chromosome 11 ring", + "Ring 11", + "R11" + ] + }, + { + "gard_id": "GARD:0010847", + "name": "Chromosome 12q deletion", + "synonyms": [ + "Deletion 12q", + "Monosomy 12q", + "12q deletion", + "12q monosomy", + "Partial monosomy 12q" + ] + }, + { + "gard_id": "GARD:0010853", + "name": "Chromosome 16p deletion", + "synonyms": [ + "Deletion 16p", + "Monosomy 16p", + "16p deletion", + "16p monosomy" + ] + }, + { + "gard_id": "GARD:0010854", + "name": "Chromosome 16q deletion", + "synonyms": [ + "Deletion 16q", + "Monosomy 16q", + "16q deletion", + "16q monosomy", + "Partial monosomy 16q" + ] + }, + { + "gard_id": "GARD:0010855", + "name": "Ring chromosome 16", + "synonyms": [ + "Chromosome 16 ring", + "Ring 16", + "R16" + ] + }, + { + "gard_id": "GARD:0010856", + "name": "Chromosome 20q duplication", + "synonyms": [ + "Duplication 20q", + "Trisomy 20q", + "20q duplication", + "20q trisomy", + "Partial trisomy 20q" + ] + }, + { + "gard_id": "GARD:0010857", + "name": "Chromosome 20q deletion", + "synonyms": [ + "Deletion 20q", + "Monosomy 20q", + "20q deletion", + "20q monosomy", + "Partial monosomy 20q" + ] + }, + { + "gard_id": "GARD:0010858", + "name": "Chromosome 21q duplication", + "synonyms": [ + "Duplication 21q", + "Trisomy 21q", + "21q duplication", + "21q trisomy", + "Partial trisomy 21q" + ] + }, + { + "gard_id": "GARD:0010860", + "name": "Chromosome 21q deletion", + "synonyms": [ + "Deletion 21q", + "Monosomy 21q", + "21q deletion", + "21q monosomy", + "Partial monosomy 21q" + ] + }, + { + "gard_id": "GARD:0010862", + "name": "Chromosome 22q duplication", + "synonyms": null + }, + { + "gard_id": "GARD:0010865", + "name": "Distal chromosome 18q deletion syndrome", + "synonyms": [ + "Distal 18q deletion syndrome", + "Distal 18q-", + "Monosomy 18q syndrome", + "Distal 18q deletion" + ] + }, + { + "gard_id": "GARD:0010866", + "name": "Proximal chromosome 18q deletion syndrome", + "synonyms": [ + "Proximal 18q deletion syndrome", + "Proximal 18q-", + "Monosomy 18q syndrome", + "Proximal 18q deletion" + ] + }, + { + "gard_id": "GARD:0010868", + "name": "Mollaret meningitis", + "synonyms": [ + "Benign recurrent aseptic meningitis", + "Mollaret's meningitis", + "Benign recurrent lymphocytic meningitis", + "Recurrent meningitis" + ] + }, + { + "gard_id": "GARD:0010869", + "name": "Mosaic trisomy 13", + "synonyms": [ + "Mosaic trisomy chromosome 13", + "Trisomy 13 mosaicism" + ] + }, + { + "gard_id": "GARD:0010870", + "name": "Free sialic acid storage disease", + "synonyms": [ + "Sialic acid storage disease", + "N-Acetylneuraminic acid storage disease (former)", + "NANA storage disease (former)", + "Lysosomal Free Sialic Acid Storage Disorders" + ] + }, + { + "gard_id": "GARD:0010871", + "name": "Intermediate severe Salla disease", + "synonyms": [ + "Intermediate Salla disease" + ] + }, + { + "gard_id": "GARD:0010872", + "name": "Malignant peripheral nerve sheath tumor", + "synonyms": [ + "MPNST", + "Malignant neurilemmoma", + "Malignant neurofibroma", + "Malignant schwannoma", + "Neurofibrosarcoma", + "Neurogenic sarcoma" + ] + }, + { + "gard_id": "GARD:0010875", + "name": "Heterotaxy", + "synonyms": [ + "Heterotaxia", + "Heterotaxy syndrome", + "Visceral heterotaxy", + "Lateralization defect", + "Situs ambiguous", + "Situs ambiguus" + ] + }, + { + "gard_id": "GARD:0010876", + "name": "Congenital radioulnar synostosis", + "synonyms": [ + "Radio-ulnar synostosis", + "Radioulnar synostosis", + "Radial-ulnar synostosis" + ] + }, + { + "gard_id": "GARD:0010877", + "name": "Familial tumoral calcinosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010878", + "name": "Normophosphatemic familial tumoral calcinosis", + "synonyms": [ + "NFTC" + ] + }, + { + "gard_id": "GARD:0010879", + "name": "Hyperphosphatemic familial tumoral calcinosis", + "synonyms": [ + "HFTC", + "Tumoral calcinosis, hyperphosphatemic, familial" + ] + }, + { + "gard_id": "GARD:0010880", + "name": "Leber congenital amaurosis 7", + "synonyms": [ + "LCA7" + ] + }, + { + "gard_id": "GARD:0010881", + "name": "Leber congenital amaurosis 8", + "synonyms": [ + "LCA8" + ] + }, + { + "gard_id": "GARD:0010882", + "name": "Leber congenital amaurosis 13", + "synonyms": [ + "LCA13" + ] + }, + { + "gard_id": "GARD:0010883", + "name": "Leber congenital amaurosis 14", + "synonyms": [ + "LCA14" + ] + }, + { + "gard_id": "GARD:0010884", + "name": "Leber congenital amaurosis 15", + "synonyms": [ + "LCA15" + ] + }, + { + "gard_id": "GARD:0010885", + "name": "Leber congenital amaurosis 16", + "synonyms": [ + "LCA16" + ] + }, + { + "gard_id": "GARD:0010886", + "name": "Frontal fibrosing alopecia", + "synonyms": [ + "FFA" + ] + }, + { + "gard_id": "GARD:0010887", + "name": "Osteofibrous dysplasia", + "synonyms": [ + "Ossifying fibroma", + "Intracortical fibrous dysplasia", + "Jaffe-Campanacci syndrome" + ] + }, + { + "gard_id": "GARD:0010888", + "name": "Diffuse dermal angiomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010889", + "name": "Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome", + "synonyms": [ + "HANAC syndrome", + "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", + "Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" + ] + }, + { + "gard_id": "GARD:0010890", + "name": "Non-involuting congenital hemangioma", + "synonyms": [ + "NICH", + "Noninvoluting congenital hemangioma" + ] + }, + { + "gard_id": "GARD:0010891", + "name": "GM1 gangliosidosis", + "synonyms": [ + "Beta galactosidase 1 deficiency", + "GLB 1 deficiency", + "Beta-galactosidosis" + ] + }, + { + "gard_id": "GARD:0010892", + "name": "Blepharophimosis intellectual disability syndromes", + "synonyms": [ + "Blepharophimosis mental retardation syndromes", + "BMRS", + "Ohdo syndrome", + "Blepharophimosis syndrome Ohdo type", + "Ohdo Blepharophimosis syndrome", + "Young Simpson syndrome", + "Say Barber Biesecker Young-Simpson syndrome", + "SBBYS syndrome", + "Blepharophimosis-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0010897", + "name": "Gray zone lymphoma", + "synonyms": null + }, + { + "gard_id": "GARD:0010898", + "name": "Acquired pure red cell aplasia", + "synonyms": [ + "Idiopathic pure red cell aplasia", + "Adult pure red cell aplasia", + "Acquired PRCA" + ] + }, + { + "gard_id": "GARD:0010899", + "name": "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia", + "synonyms": [ + "IBMPFD", + "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia", + "Limb-girdle muscular dystrophy with Paget disease of bone", + "Pagetoid amyotrophic lateral sclerosis", + "Pagetoid neuroskeletal syndrome" + ] + }, + { + "gard_id": "GARD:0010900", + "name": "Hereditary diffuse gastric cancer", + "synonyms": [ + "HDGC", + "Gastric cancer, hereditary diffuse", + "Gastric cancer, familial diffuse", + "Familial diffuse cancer of stomach", + "Familial diffuse gastric cancer", + "FDGC", + "Hereditary diffuse cancer of stomach", + "Hereditary diffuse gastric adenocarcinoma" + ] + }, + { + "gard_id": "GARD:0010901", + "name": "Aquagenic urticaria", + "synonyms": null + }, + { + "gard_id": "GARD:0010902", + "name": "Neuroacanthocytosis", + "synonyms": [ + "Neuroacanthocytosis syndrome" + ] + }, + { + "gard_id": "GARD:0010903", + "name": "Brachyolmia", + "synonyms": null + }, + { + "gard_id": "GARD:0010904", + "name": "Pityriasis rotunda", + "synonyms": null + }, + { + "gard_id": "GARD:0010905", + "name": "Dyskeratosis congenita", + "synonyms": [ + "DKC", + "Zinsser-Engman-Cole syndrome", + "DC" + ] + }, + { + "gard_id": "GARD:0010906", + "name": "Primary pigmented nodular adrenocortical disease", + "synonyms": [ + "PPNAD" + ] + }, + { + "gard_id": "GARD:0010907", + "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia", + "synonyms": [ + "XMEN", + "Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia", + "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia", + "CID due to MAGT1 deficiency", + "Combined immunodeficiency due to MAGT1 deficiency" + ] + }, + { + "gard_id": "GARD:0010908", + "name": "Congenital extrahepatic portosystemic shunt", + "synonyms": [ + "CEPS", + "Abernethy malformation" + ] + }, + { + "gard_id": "GARD:0010909", + "name": "Adult-onset vitelliform macular dystrophy", + "synonyms": [ + "AVMD", + "Macular dystrophy, vitelliform, adult-onset", + "Vitelliform macular dystrophy, adult-onset", + "Foveomacular dystrophy, adult-onset; AOFMD", + "Foveomacular dystrophy, adult-onset, with choroidal neovascularization", + "Adult-onset foveomacular vitelliform dystrophy" + ] + }, + { + "gard_id": "GARD:0010910", + "name": "Condensing osteitis of the clavicle", + "synonyms": [ + "Condensing osteitis of the medial clavicle" + ] + }, + { + "gard_id": "GARD:0010911", + "name": "Autoimmune pancreatitis", + "synonyms": [ + "Lymphoplasmocytic sclerosing pancreatitis" + ] + }, + { + "gard_id": "GARD:0010912", + "name": "Fournier gangrene", + "synonyms": [ + "Fournier's gangrene" + ] + }, + { + "gard_id": "GARD:0010913", + "name": "Griscelli syndrome", + "synonyms": [ + "Griscelli disease" + ] + }, + { + "gard_id": "GARD:0010914", + "name": "Familial avascular necrosis of the femoral head", + "synonyms": [ + "Familial osteonecrosis of the femoral head", + "Primary avascular necrosis of the femoral head" + ] + }, + { + "gard_id": "GARD:0010915", + "name": "X-linked lymphoproliferative syndrome", + "synonyms": [ + "XLP", + "X-linked lymphoproliferative disease", + "Lymphoproliferative disease, X-linked", + "XLPD", + "Duncan disease", + "Epstein Barr virus infection, familial fatal", + "EBV infection, severe, susceptibility to", + "EBVS", + "X-linked progressive combined variable immunodeficiency 5", + "Purtilo syndrome" + ] + }, + { + "gard_id": "GARD:0010916", + "name": "X-linked lymphoproliferative syndrome 2", + "synonyms": [ + "XLP2", + "Lymphoproliferative syndrome, X-linked, 2", + "XIAP deficiency", + "XIAP-related lymphoproliferative disease, X-linked" + ] + }, + { + "gard_id": "GARD:0010917", + "name": "Hypomyelination with atrophy of basal ganglia and cerebellum", + "synonyms": [ + "H-ABC", + "Leukodystrophy, hypomyelinating, 6", + "HLD6", + "Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum", + "HABC" + ] + }, + { + "gard_id": "GARD:0010918", + "name": "Idiopathic spinal cord herniation", + "synonyms": [ + "ISCH" + ] + }, + { + "gard_id": "GARD:0010919", + "name": "Pontine tegmental cap dysplasia", + "synonyms": [ + "PTCD" + ] + }, + { + "gard_id": "GARD:0010920", + "name": "Localized hypertrophic neuropathy", + "synonyms": [ + "Onion whorl disease" + ] + }, + { + "gard_id": "GARD:0010921", + "name": "Intraneural perineurioma", + "synonyms": null + }, + { + "gard_id": "GARD:0010922", + "name": "49, XXXYY syndrome", + "synonyms": [ + "XXXYY syndrome" + ] + }, + { + "gard_id": "GARD:0010923", + "name": "Erythrokeratodermia variabilis et progressiva", + "synonyms": [ + "EKVP", + "Erythrokeratodermia variabilis", + "EKV", + "Erythrokeratodermia variabilis, Mendes da Costa type", + "Progressive symmetric erythrokeratodermia", + "PSEK", + "Erythrokeratodermia, progressive symmetric", + "Darier-Gottron disease", + "Progressiva symmetrica erythrokeratodermia", + "Erythrokeratoderma variabilis progressiva" + ] + }, + { + "gard_id": "GARD:0010924", + "name": "Carney triad", + "synonyms": [ + "Gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" + ] + }, + { + "gard_id": "GARD:0010925", + "name": "La Crosse encephalitis", + "synonyms": [ + "Californian encephalitis" + ] + }, + { + "gard_id": "GARD:0010926", + "name": "Pulmonary hyalinizing granuloma", + "synonyms": null + }, + { + "gard_id": "GARD:0010927", + "name": "Cryopyrin-associated periodic syndrome", + "synonyms": [ + "CAPS", + "Cryopyrinopathy" + ] + }, + { + "gard_id": "GARD:0010928", + "name": "Progressive bulbar palsy", + "synonyms": [ + "Progressive bulbar atrophy" + ] + }, + { + "gard_id": "GARD:0010929", + "name": "Nodular regenerative hyperplasia", + "synonyms": [ + "Miliary hepatocellular adenomatosis", + "Non-cirrhotic nodulation", + "Non-cirrhotic nodular transformation", + "Non-cirrhotic portal hypertension", + "Nodular regenerative hyperplasia of the liver" + ] + }, + { + "gard_id": "GARD:0010930", + "name": "Dieulafoy lesion", + "synonyms": [ + "Dieulafoy disease", + "Dieulafoy's lesion", + "Exulceratio simplex Dieulafoy" + ] + }, + { + "gard_id": "GARD:0010931", + "name": "Orbital varix", + "synonyms": [ + "Orbital venous varix" + ] + }, + { + "gard_id": "GARD:0010932", + "name": "Ocular neuromyotonia", + "synonyms": null + }, + { + "gard_id": "GARD:0010933", + "name": "Microcephaly, seizures, and developmental delay", + "synonyms": [ + "MCSZ", + "Epileptic encephalopathy, early infantile, 10", + "EIEE10", + "Early infantile epileptic encephalopathy-10", + "Microcephaly - seizures - developmental delay" + ] + }, + { + "gard_id": "GARD:0010934", + "name": "Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency", + "synonyms": [ + "DCML", + "Monocytopenia and mycobacterial infection syndrome", + "MONOMAC", + "Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia", + "Combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections", + "Monocytopenia with susceptibility to infections", + "Monocyte - B - natural killer - dendritic cell deficiency" + ] + }, + { + "gard_id": "GARD:0010935", + "name": "16q24.3 microdeletion syndrome", + "synonyms": [ + "Del(16)(q24.3)", + "Monosomy 16q24.3", + "Chromosome 16q24.3 microdeletion syndrome" + ] + }, + { + "gard_id": "GARD:0010936", + "name": "17q23.1q23.2 microdeletion syndrome", + "synonyms": [ + "17q23.1-q23.2 microdeletion syndrome", + "Del(17)(q23.1q23.2)", + "Monosomy 17q23.1-q23.2", + "Monosomy 17q23.1q23.2", + "Chromosome 17q23.1-q23.2 deletion syndrome" + ] + }, + { + "gard_id": "GARD:0010937", + "name": "Congenital generalized lipodystrophy type 4", + "synonyms": [ + "Lipodystrophy, congenital generalized, type 4", + "CGL4", + "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy", + "Lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy", + "Generalized congenital lipodystrophy with myopathy", + "GCL4" + ] + }, + { + "gard_id": "GARD:0010938", + "name": "Microcornea posterior megalolenticonus persistent fetal vasculature coloboma", + "synonyms": [ + "MPPC syndrome" + ] + }, + { + "gard_id": "GARD:0010939", + "name": "CLOVES syndrome", + "synonyms": [ + "Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities", + "Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", + "CLOVE syndrome", + "Congenital lipomatous overgrowth - vascular malformation - epidermal nevi" + ] + }, + { + "gard_id": "GARD:0010940", + "name": "Superior limbic keratoconjunctivitis", + "synonyms": [ + "SLK", + "Theodores superior limbic keratoconjunctivitis", + "Theodores syndrome", + "Theodore superior limbic keratoconjunctivitis", + "Theodore syndrome" + ] + }, + { + "gard_id": "GARD:0010941", + "name": "Anterior uveitis", + "synonyms": [ + "Iridocyclitis" + ] + }, + { + "gard_id": "GARD:0010942", + "name": "Megalocornea - spherophakia - secondary glaucoma", + "synonyms": [ + "Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma", + "MSPKA" + ] + }, + { + "gard_id": "GARD:0010943", + "name": "1q44 microdeletion syndrome", + "synonyms": [ + "Del(1)(q44)", + "Monosomy 1q44", + "Chromosome 1q44 microdeletion syndrome" + ] + }, + { + "gard_id": "GARD:0010944", + "name": "COG6-CDG (CDG-IIL)", + "synonyms": [ + "CDG2L", + "CDG IIl", + "CDGIIl", + "Congenital disorder of glycosylation, type IIl" + ] + }, + { + "gard_id": "GARD:0010945", + "name": "Short stature with optic atrophy and Pelger-Huët anomaly syndrome", + "synonyms": [ + "SOPH syndrome" + ] + }, + { + "gard_id": "GARD:0010946", + "name": "Corticosteroid-sensitive aseptic abscesses", + "synonyms": [ + "Aseptic abscesses syndrome", + "Aseptic systemic abscesses", + "Disseminated aseptic abscesses" + ] + }, + { + "gard_id": "GARD:0010947", + "name": "UV sensitive syndrome", + "synonyms": [ + "UVSS" + ] + }, + { + "gard_id": "GARD:0010948", + "name": "Erythropoietic uroporphyria associated with myeloid malignancy", + "synonyms": null + }, + { + "gard_id": "GARD:0010949", + "name": "Non 24 hour sleep wake disorder", + "synonyms": [ + "Circadian rhythm sleep disorder, free-running type", + "Hypernychthemeral syndrome" + ] + }, + { + "gard_id": "GARD:0010951", + "name": "Necrobiotic xanthogranuloma", + "synonyms": [ + "NXG" + ] + }, + { + "gard_id": "GARD:0010952", + "name": "Bow hunter's stroke", + "synonyms": [ + "Bow hunter's syndrome" + ] + }, + { + "gard_id": "GARD:0010954", + "name": "3-methylcrotonyl-CoA carboxylase deficiency", + "synonyms": [ + "3-MCC deficiency", + "3-methylcrotonylglycinuria", + "Isolated 3-methylcrotonyl-CoA carboxylase deficiency", + "MCC deficiency", + "MCCD", + "3MCC" + ] + }, + { + "gard_id": "GARD:0010955", + "name": "Noonan syndrome", + "synonyms": [ + "Male Turner Syndrome", + "Noonan-Ehmke syndrome", + "Ullrich-Noonan syndrome", + "Female Pseudo-Turner Syndrome", + "Pseudo-Ullrich-Turner syndrome" + ] + }, + { + "gard_id": "GARD:0010956", + "name": "Hyper IgE syndrome", + "synonyms": [ + "Hyperimmunoglobulin E syndrome", + "HIES", + "Hyper-IgE recurrent infection syndrome" + ] + }, + { + "gard_id": "GARD:0010957", + "name": "Iron-refractory iron deficiency anemia", + "synonyms": [ + "IRIDA", + "IRIDA syndrome", + "Anemia, hypochromic microcytic, with defect in iron metabolism", + "Iron-handling disorder, hereditary", + "Pseudo-iron-deficiency anemia" + ] + }, + { + "gard_id": "GARD:0010958", + "name": "Oculocutaneous albinism", + "synonyms": [ + "OCA", + "Albinism, Oculocutaneous" + ] + }, + { + "gard_id": "GARD:0010959", + "name": "Familial isolated pituitary adenoma", + "synonyms": [ + "FIPA", + "Familial isolated pituitary adenoma syndrome" + ] + }, + { + "gard_id": "GARD:0010960", + "name": "Linear IgA disease", + "synonyms": [ + "Linear IgA dermatosis", + "Linear immunoglobulin A (IgA) dermatosis", + "LAD", + "Linear IgA bullous dermatosis" + ] + }, + { + "gard_id": "GARD:0010961", + "name": "Collagenous gastritis", + "synonyms": null + }, + { + "gard_id": "GARD:0010962", + "name": "TEMPI syndrome", + "synonyms": [ + "Telangiectasia - Erythrocytosis - Monoclonal gammopathy - Perinephric-fluid collections - Intrapulmonary shunting" + ] + }, + { + "gard_id": "GARD:0010964", + "name": "Chronic graft versus host disease", + "synonyms": [ + "Chronic GVHD" + ] + }, + { + "gard_id": "GARD:0010965", + "name": "Bent bone dysplasia syndrome", + "synonyms": [ + "Bent bone dysplasia (BBD)-FGFR2 type" + ] + }, + { + "gard_id": "GARD:0010966", + "name": "Systemic onset juvenile idiopathic arthritis", + "synonyms": [ + "Systemic juvenile idiopathic arthritis", + "Systemic onset juvenile rheumatoid arthritis", + "Still's disease (formerly)", + "Still disease", + "Systemic polyarthritis", + "Systemic-onset JIA", + "Systemic-onset juvenile idiopathic arthritis" + ] + }, + { + "gard_id": "GARD:0010967", + "name": "Polyarticular onset juvenile idiopathic arthritis", + "synonyms": [ + "Polyarticular juvenile rheumatoid arthritis", + "Juvenile polyarthritis rheumatoid factor negative", + "Juvenile polyarthritis rheumatoid factor positive" + ] + }, + { + "gard_id": "GARD:0010968", + "name": "Pauciarticular onset juvenile idiopathic arthritis", + "synonyms": [ + "Oligoarticular onset juvenile idiopathic arthritis", + "Oligoarthritis, juvenile", + "Pauciarthritis, juvenile" + ] + }, + { + "gard_id": "GARD:0010969", + "name": "Enthesitis-related juvenile idiopathic arthritis", + "synonyms": [ + "Juvenile enthesitis-related arthritis", + "Enthesitis related arthritis, juvenile", + "Enthesitis-related arthritis", + "ERA", + "Juvenile spondylarthropathy", + "Enthesitis-related JIA" + ] + }, + { + "gard_id": "GARD:0010970", + "name": "Psoriatic juvenile idiopathic arthritis", + "synonyms": [ + "Juvenile psoriatic arthritis", + "Psoriasis-related JIA", + "Psoriasis-related juvenile idiopathic arthritis" + ] + }, + { + "gard_id": "GARD:0010972", + "name": "Chromosome 17q deletion", + "synonyms": [ + "Deletion 17q", + "Monosomy 17q", + "17q deletion", + "17q monosomy", + "Partial monosomy 17q", + "Distal monosomy 17q" + ] + }, + { + "gard_id": "GARD:0010973", + "name": "Adult neuronal ceroid lipofuscinosis", + "synonyms": [ + "Adult NCL", + "Kuf's disease", + "ANCL", + "Neuronal ceroid lipofuscinosis 4", + "CLN4 disease, adult autosomal dominant", + "Kufs disease" + ] + }, + { + "gard_id": "GARD:0010975", + "name": "Familial hemiplegic migraine", + "synonyms": [ + "FHM", + "Hemiplegic Migraine, Familial", + "Hemiplegic-ophthalmoplegic migraine" + ] + }, + { + "gard_id": "GARD:0010976", + "name": "Ulcerative proctitis", + "synonyms": null + }, + { + "gard_id": "GARD:0010977", + "name": "Pontocerebellar hypoplasia", + "synonyms": null + }, + { + "gard_id": "GARD:0010978", + "name": "Chromosome Xp deletion", + "synonyms": [ + "Monosomy Xp", + "Xp deletion", + "Xp monosomy", + "Partial monosomy Xp" + ] + }, + { + "gard_id": "GARD:0010979", + "name": "Lymphangiomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0010980", + "name": "Autoimmune polyglandular syndrome type 3", + "synonyms": [ + "Autoimmune polyendocrine syndrome type 3", + "APS3", + "Polyglandular autoimmune syndrome type 3", + "PAS3", + "Autoimmune polyglandular syndrome type III", + "PGA-III" + ] + }, + { + "gard_id": "GARD:0010981", + "name": "Hereditary diffuse leukoencephalopathy with spheroids", + "synonyms": [ + "HDLS", + "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", + "Leukoencephalopathy, diffuse hereditary, with spheroids", + "Adult-onset leukodystrophy with neuroaxonal spheroids", + "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids", + "Hereditary diffuse leukoencephalopathy with axonal spheroids", + "Neuroaxonal leukodystrophy", + "Pigmentary orthochromatic leukodystrophy", + "POLD" + ] + }, + { + "gard_id": "GARD:0010982", + "name": "Isochromosome Yp", + "synonyms": [ + "Yp isochromosome", + "I(Y)(p10)" + ] + }, + { + "gard_id": "GARD:0010983", + "name": "Disseminated superficial actinic porokeratosis", + "synonyms": [ + "DSAP" + ] + }, + { + "gard_id": "GARD:0010984", + "name": "IL12RB1 deficiency", + "synonyms": [ + "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency", + "IL-12Râ1 deficiency", + "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency", + "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency", + "MSMD due to complete IL12RB1 deficiency", + "MSMD due to complete interleukin 12 receptor beta 1 deficiency" + ] + }, + { + "gard_id": "GARD:0010985", + "name": "Left ventricular noncompaction", + "synonyms": [ + "LVNC", + "Spongy myocardium", + "Left ventricular hypertrabeculation" + ] + }, + { + "gard_id": "GARD:0010986", + "name": "Granulomatous slack skin disease", + "synonyms": [ + "Granulomatous slack skin" + ] + }, + { + "gard_id": "GARD:0010987", + "name": "Cauda equina syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0010988", + "name": "JMP syndrome", + "synonyms": [ + "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" + ] + }, + { + "gard_id": "GARD:0010989", + "name": "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome", + "synonyms": [ + "Mandibular hypoplasia, deafness, progeroid features", + "Mandibular hypoplasia-deafness-progeroid syndrome", + "Mandibular hypoplasia-hearing loss-progeroid syndrome", + "MDPL syndrome", + "MDP syndrome", + "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome" + ] + }, + { + "gard_id": "GARD:0010990", + "name": "Chromosome 15q25.2 microdeletion", + "synonyms": [ + "15q25.2 deletion", + "15q25.2 deletion syndrome" + ] + }, + { + "gard_id": "GARD:0010991", + "name": "19p13.12 microdeletion syndrome", + "synonyms": [ + "Chromosome19p13.12 microdeletion", + "Del(19)(p13.12)", + "Monosomy 19p13.12" + ] + }, + { + "gard_id": "GARD:0010992", + "name": "Autosomal recessive spastic ataxia 4", + "synonyms": [ + "SPAX4", + "Spastic ataxia 4, autosomal recessive", + "Autosomal recessive spastic ataxia - optic atrophy - dysarthria", + "Autosomal recessive spastic ataxia type 4", + "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" + ] + }, + { + "gard_id": "GARD:0010993", + "name": "Superior semicircular canal dehiscence syndrome", + "synonyms": [ + "SCDS", + "Superior canal dehiscence syndrome" + ] + }, + { + "gard_id": "GARD:0010994", + "name": "Genitopatellar syndrome", + "synonyms": [ + "Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation", + "GTPTS", + "Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0010995", + "name": "Postnatal progressive microcephaly, seizures, and brain atrophy", + "synonyms": [ + "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly" + ] + }, + { + "gard_id": "GARD:0010996", + "name": "Chromosome 17p13.1 deletion syndrome", + "synonyms": [ + "17p13.1 deletion syndrome", + "Distal 17p13.1 microdeletion syndrome", + "Distal Del(17)(p13.1)" + ] + }, + { + "gard_id": "GARD:0010997", + "name": "Loeys-Dietz syndrome type 3", + "synonyms": [ + "LDS3", + "Aneurysms-osteoarthritis syndrome", + "Loeys-Dietz syndrome with osteoarthritis", + "Loeys-Dietz syndrome, type 3", + "Loeys-Dietz syndrome, type 1c (formerly)", + "Aneurysm - osteoarthritis syndrome", + "Aneurysm-osteoarthritis syndrome" + ] + }, + { + "gard_id": "GARD:0010998", + "name": "2q23.1 microdeletion syndrome", + "synonyms": [ + "Del(2)(q23.1)", + "Monosomy 2q23.1", + "Pseudo-Angelman syndrome", + "Chromosome 2q23.1 microdeletion syndrome" + ] + }, + { + "gard_id": "GARD:0010999", + "name": "Spastic paraplegia 51", + "synonyms": [ + "SPG51", + "Autosomal recessive spastic paraplegia 51", + "Spastic paraplegia 51, autosomal recessive", + "Cerebral palsy, spastic quadriplegic, 4 (formerly)", + "CPSQ4 (formerly)", + "AP4 deficiency syndrome", + "Severe intellectual disability and progressive spastic paraplegia" + ] + }, + { + "gard_id": "GARD:0011000", + "name": "Megaloblastic anemia due to dihydrofolate reductase deficiency", + "synonyms": [ + "DHFR deficiency", + "Constitutional megaloblastic anemia with severe neurologic disease", + "Dihydrofolate reductase deficiency" + ] + }, + { + "gard_id": "GARD:0011002", + "name": "Chromosome Xq deletion", + "synonyms": [ + "Monosomy Xq", + "Xq deletion", + "Xq monosomy", + "Partial monosomy Xq" + ] + }, + { + "gard_id": "GARD:0011003", + "name": "Karyomegalic interstitial nephritis", + "synonyms": [ + "KIN" + ] + }, + { + "gard_id": "GARD:0011004", + "name": "Linear and whorled nevoid hypermelanosis", + "synonyms": [ + "LWNH", + "Nevoid hypermelanosis, linear and whorled", + "Linear and whorled hypermelanosis", + "Zosteriform lentiginous nevus", + "Zebra-like hyperpigmentation", + "Zosteriform hyperpigmentation", + "Reticulate hyperpigmentation of Iijima" + ] + }, + { + "gard_id": "GARD:0011005", + "name": "Febrile infection-related epilepsy syndrome", + "synonyms": [ + "FIRES", + "Acute encephalitis with refractory repetitive partial seizures", + "AERRPS", + "Acute non-herpetic encephalitis with severe refractory status epilepticus", + "Devastating epileptic encephalopathy in school-aged children", + "DESC syndrome", + "Fever-induced refractory epileptic encephalopathy in school-aged children", + "Idiopathic catastrophic epileptic encephalopathy", + "Severe refractory status epilepticus owing to presumed encephalitis", + "Status epilepticus owing to presumed encephalitis", + "Febrile infection-related epilepsy syndrome" + ] + }, + { + "gard_id": "GARD:0011006", + "name": "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome", + "synonyms": [ + "Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus" + ] + }, + { + "gard_id": "GARD:0011007", + "name": "Onychocytic matricoma", + "synonyms": [ + "Acanthoma of the nail matrix" + ] + }, + { + "gard_id": "GARD:0011008", + "name": "Nestor-guillermo progeria syndrome", + "synonyms": [ + "NGPS", + "Progeria syndrome, childhood-onset, with osteolysis", + "PSCOO" + ] + }, + { + "gard_id": "GARD:0011009", + "name": "Chondrodysplasia with joint dislocations, GPAPP type", + "synonyms": [ + "GPAPP deficiency" + ] + }, + { + "gard_id": "GARD:0011010", + "name": "Hereditary sensorimotor neuropathy with hyperelastic skin", + "synonyms": null + }, + { + "gard_id": "GARD:0011011", + "name": "Multifocal motor neuropathy", + "synonyms": [ + "Multifocal motor neuropathy with conduction block", + "MMN", + "MMNCB" + ] + }, + { + "gard_id": "GARD:0011012", + "name": "Myelodysplastic syndrome with single lineage dysplasia", + "synonyms": [ + "RCUD", + "Refractory cytopenia with unilineage dysplasia", + "MDS-SLD" + ] + }, + { + "gard_id": "GARD:0011855", + "name": "Ameloblastic carcinoma", + "synonyms": [ + "Ameloblastic carcinoma" + ] + }, + { + "gard_id": "GARD:0011890", + "name": "Peroxisome biogenesis disorder-Zellweger syndrome spectrum", + "synonyms": [ + "Zellweger syndrome spectrum", + "Peroxisomal biogenesis disorders, Zellweger syndrome spectrum", + "PBD, ZSS", + "Zellweger spectrum disorders", + "PBD-Zellweger spectrum disorder", + "Zellweger spectrum", + "PBD-ZSD", + "PBD-ZSS", + "Peroxisome biogenesis disorder", + "Peroxisome biogenesis disorder spectrum" + ] + }, + { + "gard_id": "GARD:0011891", + "name": "Propriospinal myoclonus", + "synonyms": null + }, + { + "gard_id": "GARD:0011892", + "name": "Cobb syndrome", + "synonyms": [ + "Cutaneomeningospinal angiomatosis", + "Spinal arteriovenous metameric syndrome" + ] + }, + { + "gard_id": "GARD:0011893", + "name": "Mandibuloacral dysplasia", + "synonyms": [ + "MAD" + ] + }, + { + "gard_id": "GARD:0011894", + "name": "Pulmonary alveolar microlithiasis", + "synonyms": null + }, + { + "gard_id": "GARD:0011895", + "name": "Pellucid marginal degeneration", + "synonyms": null + }, + { + "gard_id": "GARD:0011896", + "name": "PDGFRB-associated chronic eosinophilic leukemia", + "synonyms": [ + "Atypical Philadelphia-negative chronic myeloid leukemia" + ] + }, + { + "gard_id": "GARD:0011897", + "name": "Cone dystrophy", + "synonyms": null + }, + { + "gard_id": "GARD:0011898", + "name": "Linear lichen planus", + "synonyms": [ + "Blaschkoid LP", + "Blaschkoid lichen planus", + "Linear LP", + "LLP" + ] + }, + { + "gard_id": "GARD:0011899", + "name": "Neurodegeneration with brain iron accumulation", + "synonyms": [ + "NBIA" + ] + }, + { + "gard_id": "GARD:0011900", + "name": "Brittle diabetes", + "synonyms": [ + "Labile diabetes", + "Brittle diabetes mellitus", + "Brittle type 1 diabetes" + ] + }, + { + "gard_id": "GARD:0011901", + "name": "Juvenile amyotrophic lateral sclerosis", + "synonyms": [ + "Amyotrophic lateral sclerosis, juvenile", + "JALS", + "Juvenile Charcot disease", + "Juvenile Lou Gehrig disease" + ] + }, + { + "gard_id": "GARD:0011902", + "name": "Congenital myasthenic syndromes", + "synonyms": [ + "CMS", + "Congenital Myasthenia", + "Congenital myasthenic syndrome" + ] + }, + { + "gard_id": "GARD:0011903", + "name": "Specific antibody deficiency", + "synonyms": [ + "Immunodeficiency due to selective anti-polysaccharide antibody deficiency", + "Impaired polysaccharide responsiveness", + "Selective antibody deficiency with normal immunoglobulins", + "Partial antibody deficiency" + ] + }, + { + "gard_id": "GARD:0011904", + "name": "Capillary malformation-arteriovenous malformation syndrome", + "synonyms": [ + "CM-AVM syndrome", + "CMAVM" + ] + }, + { + "gard_id": "GARD:0011906", + "name": "Cylindrical spirals myopathy", + "synonyms": [ + "Myotonic myopathy with cylindrical spirals" + ] + }, + { + "gard_id": "GARD:0011907", + "name": "Acute panmyelosis with myelofibrosis", + "synonyms": [ + "Acute myelofibrosis", + "Acute myelosclerosis", + "Acute myelodysplasia with myelofibrosis" + ] + }, + { + "gard_id": "GARD:0011908", + "name": "Dirofilariasis", + "synonyms": null + }, + { + "gard_id": "GARD:0011909", + "name": "Engraftment syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0011910", + "name": "Atypical Werner syndrome", + "synonyms": [ + "Atypical progeroid syndrome" + ] + }, + { + "gard_id": "GARD:0011911", + "name": "Deafness-infertility syndrome", + "synonyms": [ + "Sensorineural deafness and male infertility" + ] + }, + { + "gard_id": "GARD:0011912", + "name": "Gliomatosis peritonei", + "synonyms": null + }, + { + "gard_id": "GARD:0011915", + "name": "Cap myopathy", + "synonyms": [ + "Cap disease", + "Congenital myopathy with caps" + ] + }, + { + "gard_id": "GARD:0011917", + "name": "Autoimmune autonomic ganglionopathy", + "synonyms": [ + "Autoimmune Autonomic Neuropathy" + ] + }, + { + "gard_id": "GARD:0011918", + "name": "Autosomal dominant nocturnal frontal lobe epilepsy", + "synonyms": [ + "ADNFLE", + "Epilepsy, nocturnal frontal lobe, 1", + "ENFL1", + "Autosomal dominant sleep-related hypermotor epilepsy" + ] + }, + { + "gard_id": "GARD:0011922", + "name": "Koro", + "synonyms": [ + "Koro syndrome", + "Suo yang", + "Genital retraction syndrome" + ] + }, + { + "gard_id": "GARD:0011923", + "name": "Small cell carcinoma of the bladder", + "synonyms": [ + "Small cell bladder cancer", + "Small cell bladder carcinoma", + "Small cell carcinoma of the urinary bladder", + "Poorly differentiated neuroendocrine carcinoma of the bladder", + "SCCB" + ] + }, + { + "gard_id": "GARD:0011924", + "name": "Carcinoma showing thymus-like differentiation", + "synonyms": [ + "CASTLE" + ] + }, + { + "gard_id": "GARD:0011925", + "name": "X-linked myotubular myopathy", + "synonyms": [ + "X-linked centronuclear myopathy", + "XLCNM", + "XLMTM" + ] + }, + { + "gard_id": "GARD:0011927", + "name": "Hereditary sensory and autonomic neuropathy type 1E", + "synonyms": [ + "Hereditary sensory neuropathy with hearing loss and dementia", + "Hereditary sensory neuropathy type IE", + "DNMT1-Related Dementia, Deafness, and Sensory Neuropathy", + "HSNIE", + "HSAN1E", + "Hereditary sensory neuropathy-deafness-dementia syndrome", + "Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome", + "HSN1E" + ] + }, + { + "gard_id": "GARD:0011928", + "name": "Juvenile-onset small-fiber polyneuropathy", + "synonyms": [ + "JOSeFINE" + ] + }, + { + "gard_id": "GARD:0011943", + "name": "Simultanagnosia", + "synonyms": null + }, + { + "gard_id": "GARD:0011962", + "name": "Familial partial lipodystrophy", + "synonyms": [ + "FPLD" + ] + }, + { + "gard_id": "GARD:0011967", + "name": "Pitt-Hopkins-like syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0011968", + "name": "Lactobezoar", + "synonyms": null + }, + { + "gard_id": "GARD:0011969", + "name": "Clostridium septicum infection", + "synonyms": [ + "Cl. septicum infection" + ] + }, + { + "gard_id": "GARD:0011970", + "name": "Clostridium perfringens infection", + "synonyms": [ + "C. perfringens infection" + ] + }, + { + "gard_id": "GARD:0011971", + "name": "Renal nutcracker syndrome", + "synonyms": [ + "Nutcracker syndrome", + "Left renal vein entrapment syndrome", + "RNS" + ] + }, + { + "gard_id": "GARD:0011972", + "name": "Dominant optic atrophy", + "synonyms": [ + "Autosomal dominant optic atrophy", + "DOA", + "ADOA" + ] + }, + { + "gard_id": "GARD:0011973", + "name": "Angioimmunoblastic T-cell lymphoma", + "synonyms": [ + "AITL", + "Immunoblastic lymphadenopathy", + "Lymphogranulomatosis X", + "T-cell lymphoma, AILD type" + ] + }, + { + "gard_id": "GARD:0011974", + "name": "3q29 microdeletion syndrome", + "synonyms": [ + "Chromosome 3q29 microdeletion syndrome", + "3q subtelomere deletion syndrome", + "3q29 deletion", + "Monosomy 3q29", + "3q29 deletion syndrome", + "3qter deletion", + "Del(3)(q29)", + "Monosomy 3qter" + ] + }, + { + "gard_id": "GARD:0011975", + "name": "15q13.3 microduplication syndrome", + "synonyms": [ + "15q13.3 microduplication", + "Chromosome 15q13.3 duplication syndrome", + "Chromosome 15q13.3 microduplication syndrome", + "Microduplication 15q13.3 syndrome" + ] + }, + { + "gard_id": "GARD:0011976", + "name": "Cystic adventitial disease", + "synonyms": null + }, + { + "gard_id": "GARD:0011977", + "name": "Prosthetic joint infection", + "synonyms": [ + "PJI", + "Knee replacement infection", + "Artificial joint infection", + "Joint replacement infection" + ] + }, + { + "gard_id": "GARD:0011978", + "name": "Sclerosing mucoepidermoid carcinoma with eosinophilia", + "synonyms": [ + "SMECE" + ] + }, + { + "gard_id": "GARD:0011979", + "name": "Autoimmune encephalitis", + "synonyms": null + }, + { + "gard_id": "GARD:0011980", + "name": "Hypomyelination and congenital cataract", + "synonyms": [ + "Leukodystrophy, hypomyelinating, 5", + "HLD5", + "Hypomyelination - congenital cataract" + ] + }, + { + "gard_id": "GARD:0011982", + "name": "Membranoproliferative glomerulonephritis", + "synonyms": [ + "Primary membranoproliferative glomerulonephritis", + "MPGN", + "Mesangiocapillary glomerulonephritis" + ] + }, + { + "gard_id": "GARD:0011983", + "name": "PASLI disease", + "synonyms": [ + "APDS", + "p110 delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency", + "Activated PI3K-delta syndrome" + ] + }, + { + "gard_id": "GARD:0011984", + "name": "Hereditary paraganglioma-pheochromocytoma", + "synonyms": [ + "Hereditary pheochromocytoma-paraganglioma", + "Familial pheochromocytoma-paraganglioma", + "SDHx-related paraganglioma-pheochromocytoma" + ] + }, + { + "gard_id": "GARD:0011985", + "name": "48,XYYY", + "synonyms": null + }, + { + "gard_id": "GARD:0011989", + "name": "Pythiosis", + "synonyms": [ + "Human pythiosis", + "Pythium insidiosum infection" + ] + }, + { + "gard_id": "GARD:0011992", + "name": "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies", + "synonyms": [ + "Acquired adult-onset immunodeficiency", + "Anti-IFN-gamma autoantibody syndrome", + "Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies", + "Adult-onset immunodeficiency due to anti-interferon-gamma autoantibody", + "Adult onset immunodeficiency syndrome" + ] + }, + { + "gard_id": "GARD:0012003", + "name": "Mesangioproliferative glomerulopathy", + "synonyms": [ + "MesPGN" + ] + }, + { + "gard_id": "GARD:0012008", + "name": "Congenital tracheal stenosis", + "synonyms": [ + "Tracheobronchial stenosis, congenital" + ] + }, + { + "gard_id": "GARD:0012010", + "name": "Biliary atresia", + "synonyms": [ + "Non-syndromic biliary atresia", + "Isolated atresia of bile ducts", + "Isolated Biliary atresia" + ] + }, + { + "gard_id": "GARD:0012011", + "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E", + "synonyms": [ + "CMTDIE", + "Charcot-Marie-Tooth disease - nephropathy", + "Charcot-Marie-Tooth disease, Dominant Intermediate E", + "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" + ] + }, + { + "gard_id": "GARD:0012015", + "name": "Lipoblastoma", + "synonyms": null + }, + { + "gard_id": "GARD:0012016", + "name": "Primary melanoma of the central nervous system", + "synonyms": [ + "Primary CNS melanoma", + "Primary melanoma of the CNS", + "Primary meningeal melanoma" + ] + }, + { + "gard_id": "GARD:0012017", + "name": "Pineal germ cell tumor", + "synonyms": [ + "Pineal Cell Tumour", + "Pineal Cell Tumor", + "Pineal region germinoma" + ] + }, + { + "gard_id": "GARD:0012027", + "name": "Papillary thyroid carcinoma", + "synonyms": [ + "Familial nonmedullary thyroid cancer, papillary", + "Nonmedullary thyroid carcinoma, papillary" + ] + }, + { + "gard_id": "GARD:0012032", + "name": "Isolated levocardia", + "synonyms": [ + "Situs inversus with levocardia", + "Isolated levocardia with situs inversus" + ] + }, + { + "gard_id": "GARD:0012033", + "name": "Nemaline myopathy", + "synonyms": [ + "Nemaline body disease", + "Nemaline rod disease", + "Rod body disease", + "Rod-body myopathy", + "Rod myopathy", + "Congenital rod disease", + "Nemaline rod myopathy", + "NM" + ] + }, + { + "gard_id": "GARD:0012034", + "name": "Autoimmune retinopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0012035", + "name": "Airway-centered interstitial fibrosis", + "synonyms": [ + "Airway-centered idiopathic interstitial pneumonia", + "ACIF" + ] + }, + { + "gard_id": "GARD:0012036", + "name": "Facial onset sensory and motor neuronopathy", + "synonyms": [ + "Facial onset sensorimotor neuronopathy syndrome", + "FOSMN syndrome", + "Facial onset sensory and motor neuronopathy syndrome" + ] + }, + { + "gard_id": "GARD:0012041", + "name": "Melanoma-associated retinopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0012047", + "name": "Extracranial arteriovenous malformation", + "synonyms": [ + "Extracranial AVM", + "Head and neck arteriovenous malformation", + "Head and neck AVM" + ] + }, + { + "gard_id": "GARD:0012048", + "name": "Immunotactoid glomerulopathy", + "synonyms": [ + "Immunotactoid glomerulonephritis" + ] + }, + { + "gard_id": "GARD:0012058", + "name": "Misophonia", + "synonyms": [ + "Selective sound sensitivity syndrome" + ] + }, + { + "gard_id": "GARD:0012059", + "name": "GM3 synthase deficiency", + "synonyms": [ + "Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness", + "Epilepsy syndrome, infantile-onset symptomatic", + "Amish infantile epilepsy syndrome", + "ST3GAL5-CDG", + "Salt and pepper syndrome" + ] + }, + { + "gard_id": "GARD:0012062", + "name": "Visual snow syndrome", + "synonyms": [ + "Visual snow" + ] + }, + { + "gard_id": "GARD:0012063", + "name": "Autoimmune gastrointestinal dysmotility", + "synonyms": [ + "AGID" + ] + }, + { + "gard_id": "GARD:0012074", + "name": "Oculo-auriculo-vertebral spectrum", + "synonyms": [ + "OAVD", + "Oculo-Auriculo-Vertebral Dysplasia" + ] + }, + { + "gard_id": "GARD:0012075", + "name": "Nevus mucinosis", + "synonyms": [ + "Mucinous nevus" + ] + }, + { + "gard_id": "GARD:0012076", + "name": "7q11.23 duplication syndrome", + "synonyms": [ + "Williams-Beuren region duplication syndrome", + "WBS duplication syndrome", + "Chromosome 7q11.23 duplication syndrome", + "Somerville-Van Der AA syndrome", + "Dup(7)(q11.23)", + "Trisomy 7q11.23", + "7q11.23 microduplication syndrome" + ] + }, + { + "gard_id": "GARD:0012078", + "name": "Hypoganglionosis", + "synonyms": [ + "Intestinal hypoganglionosis" + ] + }, + { + "gard_id": "GARD:0012085", + "name": "Microphthalmia", + "synonyms": [ + "Clinical anophthalmia", + "Primitive anophthalmia", + "Isolated anophthalmia - microphthalmia", + "Isolated pure microphthalmia", + "Isolated anophthalmia-microphthalmia syndrome", + "MAC spectrum", + "Microphthalmia-anophthalmia-coloboma spectrum", + "Isolated microphthalmia-anophthalmia-coloboma" + ] + }, + { + "gard_id": "GARD:0012088", + "name": "Hemoglobin SE disease", + "synonyms": [ + "HbSE disease", + "Sickle cell - hemoglobin E disease", + "Sickle cell-hemoglobin E disease syndrome" + ] + }, + { + "gard_id": "GARD:0012089", + "name": "Hemihypertrophy", + "synonyms": [ + "Hemihyperplasia" + ] + }, + { + "gard_id": "GARD:0012097", + "name": "Lysosomal acid lipase deficiency", + "synonyms": [ + "LAL deficiency", + "LIPA deficiency" + ] + }, + { + "gard_id": "GARD:0012099", + "name": "Cholesteryl ester storage disease", + "synonyms": [ + "CESD", + "Cholesterol ester hydrolase deficiency", + "Cholesterol ester storage disease" + ] + }, + { + "gard_id": "GARD:0012107", + "name": "Autosomal dominant non-syndromic intellectual disability", + "synonyms": null + }, + { + "gard_id": "GARD:0012109", + "name": "Trichothiodystrophy ", + "synonyms": null + }, + { + "gard_id": "GARD:0012113", + "name": "Trochleitis", + "synonyms": [ + "trochleodynia" + ] + }, + { + "gard_id": "GARD:0012117", + "name": "Autosomal recessive primary microcephaly", + "synonyms": [ + "Microcephalia vera", + "Microcephaly vera", + "True microcephaly", + "MCPH" + ] + }, + { + "gard_id": "GARD:0012123", + "name": "Phocomelia", + "synonyms": null + }, + { + "gard_id": "GARD:0012124", + "name": "Macrophage activation syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012125", + "name": "Plasmablastic lymphoma", + "synonyms": null + }, + { + "gard_id": "GARD:0012128", + "name": "Methylmalonic acidemia with homocystinuria type cblC", + "synonyms": [ + "Methylmalonic acidemia and homocystinuria cblc", + "Cobalamin C disease", + "cblC", + "Methylmalonic aciduria and homocystinuria cblc", + "Methylmalonic aciduria and homocystinuria, cblC type" + ] + }, + { + "gard_id": "GARD:0012130", + "name": "Eosinophilic mastitis", + "synonyms": null + }, + { + "gard_id": "GARD:0012133", + "name": "Nodding syndrome", + "synonyms": [ + "Nodding disease" + ] + }, + { + "gard_id": "GARD:0012136", + "name": "C1q nephropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0012138", + "name": "Apocrine carcinoma", + "synonyms": null + }, + { + "gard_id": "GARD:0012141", + "name": "May-Thurner syndrome", + "synonyms": [ + "Iliocaval compression syndrome", + "Cockett syndrome", + "Iliac vein compression syndrome", + "May Thurner syndrome" + ] + }, + { + "gard_id": "GARD:0012144", + "name": "GTPCH1-deficient DRD", + "synonyms": [ + "DYT-GCH1", + "Dopa-responsive dystonia autosomal dominant Segawa syndrome", + "DOPA-responsive dystonia, with or without hyperphenylalaninemia", + "GTP cyclohydrolase 1-deficient dopa-responsive dystonia", + "GTPCH1-deficient dopa-responsive dystonia", + "DYT/PARK-GCH1" + ] + }, + { + "gard_id": "GARD:0012149", + "name": "Alien hand syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012151", + "name": "Crusted scabies", + "synonyms": [ + "Norwegian scabies", + "Seven year itch" + ] + }, + { + "gard_id": "GARD:0012155", + "name": "Renal hypomagnesemia-6", + "synonyms": null + }, + { + "gard_id": "GARD:0012162", + "name": "Reducing body myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0012163", + "name": "Brain-lung-thyroid syndrome", + "synonyms": [ + "Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction", + "Choreoathetosis-hypothyroidism-neonatal respiratory distress", + "CAHTP", + "BLT syndrome", + "Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" + ] + }, + { + "gard_id": "GARD:0012166", + "name": "5q14.3 microdeletion syndrome ", + "synonyms": [ + "Chromosome 5q14.3 deletion syndrome", + "Monosomy 5q14.3", + "Del(5)(q14.3)", + "Mental retardation, autosomal dominant 20", + "5q14.3 deletion syndrome", + "Autosomal dominant intellectual disability 20" + ] + }, + { + "gard_id": "GARD:0012173", + "name": "CDKL5 deficiency disorder", + "synonyms": [ + "CDKL5", + "CDKL5 disorder", + "Early infantile epileptic encephalopathy-2", + "X-linked dominant infantile spasm syndrome-2", + "CDKL5-related disorder", + "CDKL5 deficiency" + ] + }, + { + "gard_id": "GARD:0012174", + "name": "Spondylocostal dysostosis", + "synonyms": [ + "Costovertebral dysplasia", + "SCDO" + ] + }, + { + "gard_id": "GARD:0012182", + "name": "PIK3CA-related overgrowth spectrum", + "synonyms": [ + "PIK3CA-associated segmental overgrowth" + ] + }, + { + "gard_id": "GARD:0012185", + "name": "Benign recurrent intrahepatic cholestasis", + "synonyms": [ + "BRIC", + "Summerskill-Walshe-Tygstrup syndrome" + ] + }, + { + "gard_id": "GARD:0012199", + "name": "Early-onset myopathy, areflexia, respiratory distress and dysphagia", + "synonyms": [ + "EMARDD", + "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset" + ] + }, + { + "gard_id": "GARD:0012219", + "name": "15q24 microdeletion syndrome", + "synonyms": [ + "Del(15)(q24)", + "Monosomy 15q24" + ] + }, + { + "gard_id": "GARD:0012232", + "name": "Spinocerebellar ataxia autosomal recessive 7", + "synonyms": [ + "SCAR7", + "Childhood onset autosomal recessive slowly progressive spinocerebellar ataxia" + ] + }, + { + "gard_id": "GARD:0012233", + "name": "MED23", + "synonyms": [ + "Intellectual disability, autosomal recessive 18", + "Autosomal recessive nonsyndromic mental retardation-18" + ] + }, + { + "gard_id": "GARD:0012234", + "name": "Spinocerebellar ataxia autosomal recessive 8", + "synonyms": [ + "ARCA1", + "SCAR8", + "autosomal recessive spinocerebellar ataxia 8", + "Recessive ataxia of Beauce", + "SYNE1-related autosomal recessive cerebellar ataxia", + "Autosomal recessive ataxia Beauce type" + ] + }, + { + "gard_id": "GARD:0012241", + "name": "Familial lipoprotein lipase deficiency", + "synonyms": [ + "Lipoprotein lipase deficiency", + "Type I hyperlipoproteinemia", + "Familial hyperchylomicronemia", + "Familial LPL deficiency", + "Burger-Grutz syndrome", + "Endogenous hypertriglyceridaemia", + "Familial fat-induced hypertriglyceridemia", + "Lipase D deficiency", + "LIPD deficiency", + "Lipoprotein lipase deficiency, familial", + "LPL deficiency" + ] + }, + { + "gard_id": "GARD:0012244", + "name": "New-onset refractory status epilepticus", + "synonyms": [ + "New onset refractory status epilepticus", + "De novo cryptogenic refractory multifocal febrile status epilepticus", + "NORSE" + ] + }, + { + "gard_id": "GARD:0012251", + "name": "Isolated ectopia lentis", + "synonyms": [ + "Ectopia lentis syndrome", + "Familial ectopia lentis" + ] + }, + { + "gard_id": "GARD:0012257", + "name": "T-cell/histiocyte rich large B cell lymphoma", + "synonyms": null + }, + { + "gard_id": "GARD:0012263", + "name": "Proliferative verrucous leukoplakia", + "synonyms": null + }, + { + "gard_id": "GARD:0012266", + "name": "Blepharophimosis, ptosis, and epicanthus inversus syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012267", + "name": "Congenital insensitivity to pain", + "synonyms": [ + "Channelopathy-associated congenital insensitivity to pain", + "Channelopathy-associated CIP" + ] + }, + { + "gard_id": "GARD:0012278", + "name": "Gastroparesis", + "synonyms": [ + "Delayed gastric emptying" + ] + }, + { + "gard_id": "GARD:0012279", + "name": "Malignant ectomesenchymoma ", + "synonyms": [ + "Ectomesenchymoma" + ] + }, + { + "gard_id": "GARD:0012280", + "name": "Central congenital hypothyroidism", + "synonyms": [ + "Secondary hypothyroidism" + ] + }, + { + "gard_id": "GARD:0012281", + "name": "CAID syndrome", + "synonyms": [ + "Chronic atrial intestinal dysrhythmia syndrome", + "Cohesinopathy affecting heart and gut rhythm", + "Chronic atrial and intestinal dysrhythmia" + ] + }, + { + "gard_id": "GARD:0012285", + "name": "Ovarian sex cord tumor with annular tubules", + "synonyms": [ + "Ovarian sex cord-stromal tumor" + ] + }, + { + "gard_id": "GARD:0012291", + "name": "Lissencephaly", + "synonyms": null + }, + { + "gard_id": "GARD:0012299", + "name": "Bradyopsia", + "synonyms": [ + "Prolonged electroretinal response suppression", + "PERRS", + "Bradyopsia" + ] + }, + { + "gard_id": "GARD:0012300", + "name": "Pelizaeus-Merzbacher-like disease", + "synonyms": [ + "PMLD" + ] + }, + { + "gard_id": "GARD:0012301", + "name": "Myotonia congenita", + "synonyms": [ + "Thomsen and Becker disease" + ] + }, + { + "gard_id": "GARD:0012308", + "name": "Median arcuate ligament syndrome", + "synonyms": [ + "MALS", + "Celiac artery compression syndrome", + "Celiac axis syndrome", + "Dunbar syndrome" + ] + }, + { + "gard_id": "GARD:0012311", + "name": "Congenital lactase deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0012312", + "name": "IMAGe syndrome", + "synonyms": [ + "Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" + ] + }, + { + "gard_id": "GARD:0012314", + "name": "Autosomal dominant candidiasis familial chronic mucocutaneous", + "synonyms": [ + "FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT", + "Candidiasis Familial, 7", + "CANDF7", + "Immunodeficiency 31C; IMD31C", + "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" + ] + }, + { + "gard_id": "GARD:0012315", + "name": "Deficiency of N-glycanase 1", + "synonyms": [ + "Congenital disorder of deglycosylation;CDDG", + "Congenital disorder of glycosylation type IV; CDG1V", + "Alacrimia-choreoathetosis-liver dysfunction syndrome", + "NGLY1 deficiency" + ] + }, + { + "gard_id": "GARD:0012316", + "name": "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency", + "synonyms": [ + "ALPS due to CTLA4 haploinsuffiency", + "ALPS type 5", + "ALPS type V", + "Autoimmune lymphoproliferative syndrome type 5", + "Autoimmune lymphoproliferative syndrome type V", + "CHAI", + "CTLA-4 haploinsufficiency with autoimmune infiltration disease", + "Autoimmune lymphoproliferative syndrome, type V", + "CTLA4 Haploinsufficiency with autoimmune infiltration" + ] + }, + { + "gard_id": "GARD:0012321", + "name": "Double outlet right atrium", + "synonyms": null + }, + { + "gard_id": "GARD:0012328", + "name": "Hereditary sensory and autonomic neuropathy type V", + "synonyms": [ + "Congenital insensitivity to pain and thermal analgesia", + "HSAN5", + "Hereditary sensory and autonomic neuropathy type 5", + "Neuropathy, hereditary sensory and autonomic, type V", + "HSAN V", + "INSENSITIVITY TO PAIN, CONGENITAL" + ] + }, + { + "gard_id": "GARD:0012331", + "name": "Intestinal lymphangiectasia", + "synonyms": null + }, + { + "gard_id": "GARD:0012335", + "name": "Uterine Carcinosarcoma ", + "synonyms": [ + "Malignant mixed müllerian tumor of corpus uteri", + "Mixed müllerian cancer of corpus uteri", + "Carcinosarcoma of the corpus uteri", + "Malignant mixed Müllerian tumor of the corpus uteri" + ] + }, + { + "gard_id": "GARD:0012344", + "name": "Rare lichen planus", + "synonyms": [ + "Rare LP" + ] + }, + { + "gard_id": "GARD:0012347", + "name": "Dihydropyrimidinase deficiency", + "synonyms": [ + "Dihydropyrimidinuria", + "DPYS Deficiency", + "DPH Deficiency" + ] + }, + { + "gard_id": "GARD:0012348", + "name": "COG5-CDG (CDG-IIi)", + "synonyms": [ + "CDG IIi", + "COG5-CDG (CDG-Iii).", + "CDG syndrome type IIi", + "CDG-IIi", + "CDG2I", + "Carbohydrate deficient glycoprotein syndrome type IIi", + "Congenital disorder of glycosylation type IIi", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi", + "COG5-CDG", + "Congenital disorder of glycosylation type 2i" + ] + }, + { + "gard_id": "GARD:0012351", + "name": "BRCA1 hereditary breast and ovarian cancer syndrome", + "synonyms": [ + "Familial susceptibility to breast-ovarian cancer 1", + "BROVCA1" + ] + }, + { + "gard_id": "GARD:0012352", + "name": "BRCA2 hereditary breast and ovarian cancer syndrome", + "synonyms": [ + "HBOC", + "Familial susceptibility to breast-ovarian cancer 2", + "BROVCA2" + ] + }, + { + "gard_id": "GARD:0012353", + "name": "Autosomal recessive axonal neuropathy with neuromyotonia", + "synonyms": [ + "Gamstorp-Wohlfart Syndrome", + "Myokymia, Myotonia, And Muscle Wasting", + "ARAN-NM", + "ARCMT2-NM", + "Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia", + "NMAN" + ] + }, + { + "gard_id": "GARD:0012354", + "name": "Distal renal tubular acidosis with hemolytic anemia", + "synonyms": [ + "RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED" + ] + }, + { + "gard_id": "GARD:0012355", + "name": "SLC4A1-associated distal renal tubular acidosis", + "synonyms": [ + "Classic distal renal tubular acidosis", + "Renal tubular acidosis type I", + "Classic type RTA" + ] + }, + { + "gard_id": "GARD:0012356", + "name": "Rienhoff syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012357", + "name": "STING-associated vasculopathy with onset in infancy", + "synonyms": [ + "SAVI" + ] + }, + { + "gard_id": "GARD:0012358", + "name": "Recurrent hydatidiform mole", + "synonyms": [ + "Familial biparental hydatidiform mole", + "Familial recurrent hydatidiform mole", + "FRHM" + ] + }, + { + "gard_id": "GARD:0012360", + "name": "Hypochromic microcytic anemia with iron overload", + "synonyms": [ + "Microcytic anemia and hepatic iron overload", + "Microcytic anemia with liver iron overload", + "AHMIO1" + ] + }, + { + "gard_id": "GARD:0012361", + "name": "Eosinophil peroxidase deficiency", + "synonyms": [ + "Eosinophil peroxidase deficiency, partial", + "Peroxidase and phospholipid deficiency in eosinophils", + "Presentey anomaly", + "EPXD" + ] + }, + { + "gard_id": "GARD:0012362", + "name": "Familial hyperaldosteronism type III ", + "synonyms": [ + "FH III", + "Familial hyperaldosteronism type 3", + "FH-III", + "FH3" + ] + }, + { + "gard_id": "GARD:0012365", + "name": "Spinocerebellar ataxia 19 and 22", + "synonyms": [ + "SCA19/22" + ] + }, + { + "gard_id": "GARD:0012366", + "name": "Spinocerebellar ataxia 35", + "synonyms": [ + "SCA35" + ] + }, + { + "gard_id": "GARD:0012367", + "name": "Spinocerebellar ataxia 36", + "synonyms": [ + "SCA36" + ] + }, + { + "gard_id": "GARD:0012368", + "name": "Spinocerebellar ataxia 37", + "synonyms": [ + "SCA37" + ] + }, + { + "gard_id": "GARD:0012369", + "name": "Spinocerebellar ataxia 38", + "synonyms": [ + "SCA38" + ] + }, + { + "gard_id": "GARD:0012371", + "name": "Spinocerebellar ataxia 40", + "synonyms": [ + "SCA40", + "Spinocerebellar ataxia type 40" + ] + }, + { + "gard_id": "GARD:0012372", + "name": "Autosomal dominant cerebellar ataxia, deafness, and narcolepsy", + "synonyms": [ + "ADCADN", + "ADCA-DN", + "Autosomal dominant cerebellar ataxia, deafness and narcolepsy", + "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome", + "ADCA-DN syndrome" + ] + }, + { + "gard_id": "GARD:0012375", + "name": "Idiopathic CD4 positive T-lymphocytopenia", + "synonyms": [ + "IMMUNODEFICIENCY 13", + "IMD13", + "ICL", + "IDIOPATHIC CD4 LYMPHOPENIA", + "Idiopathic CD4 lymphocytopenia" + ] + }, + { + "gard_id": "GARD:0012382", + "name": "Sudden infant death with dysgenesis of the testes syndrome", + "synonyms": [ + "SIDDT", + "Sudden infant death - dysgenesis of the testes", + "Sudden infant death-dysgenesis of the testes syndrome" + ] + }, + { + "gard_id": "GARD:0012383", + "name": "Adenosine Deaminase 2 deficiency", + "synonyms": [ + "Vasculitis due to ADA2 deficiency", + "Polyarteritis nodosa, childhood-onset", + "ADA2 deficiency", + "Childhood-onset polyarteritis nodosa", + "DADA2", + "Vasculitis due to DADA2" + ] + }, + { + "gard_id": "GARD:0012384", + "name": "Cole disease ", + "synonyms": [ + "Guttate hypopigmentation", + "Punctate palmoplantar keratoderma with or without ectopic calcification" + ] + }, + { + "gard_id": "GARD:0012385", + "name": "Macrozoospermia ", + "synonyms": [ + "MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA", + "INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA", + "SPERMATOGENIC FAILURE 5", + "SPGF5", + "Male infertility due to large-headed multiflagellar polyploid spermatozoa", + "Macrocephalic sperm head syndrome", + "Male infertility due to macrozoospermia" + ] + }, + { + "gard_id": "GARD:0012388", + "name": "16p11.2 duplication", + "synonyms": [ + "Susceptibility to Autism, 14B", + "AUTS14B", + "16p11.2 duplication syndrome", + "16p11.2 microduplication" + ] + }, + { + "gard_id": "GARD:0012390", + "name": "Schnitzler syndrome", + "synonyms": [ + "Chronic urticaria with gammapathy", + "Chronic urticaria with macroglobulinemia", + "Chronic urticaria with gammopathy" + ] + }, + { + "gard_id": "GARD:0012391", + "name": "Early infantile epileptic encephalopathy 26 ", + "synonyms": [ + "EIEE26" + ] + }, + { + "gard_id": "GARD:0012392", + "name": "Cutaneous-skeletal hypophosphatemia syndrome ", + "synonyms": null + }, + { + "gard_id": "GARD:0012393", + "name": "DOLK-CDG (CDG-Im)", + "synonyms": [ + "Congenital disorder of glycosylation, type Im", + "CDG Im", + "CDGIm", + "DOLICHOL KINASE DEFICIENCY", + "DK1 DEFICIENCY", + "Carbohydrate deficient glycoprotein syndrome type Im", + "Hypotonia and ichthyosis due to dolichol phosphate deficiency", + "CDG syndrome type Im", + "CDG-Im", + "CDG1M", + "Congenital disorder of glycosylation type 1m", + "Congenital disorder of glycosylation type Im", + "DK1-CDG" + ] + }, + { + "gard_id": "GARD:0012394", + "name": "RFT1-CDG (CDG-In)", + "synonyms": [ + "CDG syndrome type In", + "Congenital disorder of glycosylation, type In", + "CDG-In", + "CDGIN", + "Carbohydrate deficient glycoprotein syndrome type In", + "Man5GlcNAc2-PP-Dol flippase deficiency", + "Congenital disorder of glycosylation type 1n", + "CDG1N", + "Congenital disorder of glycosylation type In", + "RFT1-CDG" + ] + }, + { + "gard_id": "GARD:0012395", + "name": "DPM3-CDG (CDG-Io)", + "synonyms": [ + "Congenital disorder of glycosylation, type Io", + "CDG Io", + "CDGIo", + "CDG1(DPM3)", + "CDG syndrome type Io", + "CDG-Io", + "Carbohydrate deficient glycoprotein syndrome type Io", + "DG1O", + "Congenital disorder of glycosylation type Io", + "CDG1O", + "DPM3-CDG", + "Congenital disorder of glycosylation type 1o" + ] + }, + { + "gard_id": "GARD:0012396", + "name": "ALG11-CDG (CDG-Ip)", + "synonyms": [ + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip", + "CDG1P", + "CDG syndrome type Ip", + "CDG-Ip", + "Carbohydrate deficient glycoprotein syndrome type Ip", + "Congenital disorder of glycosylation type 1p", + "ALG11-CDG", + "Congenital disorder of glycosylation type Ip" + ] + }, + { + "gard_id": "GARD:0012397", + "name": "SRD5A3-CDG (CDG-Iq) ", + "synonyms": [ + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq", + "CDG1Q", + "COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES", + "CDGIq", + "Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency", + "CDG-Iq", + "Congenital disorder of glycosylation type 1q", + "Congenital disorder of glycosylation type Iq", + "SRD5A3-CDG", + "CDG syndrome type Iq" + ] + }, + { + "gard_id": "GARD:0012398", + "name": "DDOST-CDG (CDG-Ir)", + "synonyms": [ + "Congenital disorder of glycosylation, type Ir", + "CDG syndrome type Ir", + "CDG-Ir", + "CDG1R", + "Carbohydrate deficient glycoprotein syndrome type", + "Congenital disorder of glycosylation type 1r", + "Congenital disorder of glycosylation type Ir", + "Carbohydrate deficient glycoprotein syndrome type Ir", + "DDOST-CDG" + ] + }, + { + "gard_id": "GARD:0012400", + "name": "TUSC3-CDG", + "synonyms": null + }, + { + "gard_id": "GARD:0012401", + "name": "ALG13-CDG", + "synonyms": [ + "CDG syndrome type Is", + "CDG-Is", + "CDG1S", + "Congenital disorder of glycosylation type 1s", + "Congenital disorder of glycosylation type Is", + "Congenital disorder of glycosylation, type Is" + ] + }, + { + "gard_id": "GARD:0012403", + "name": "SLC35A2-CDG", + "synonyms": [ + "CDG syndrome type IIm", + "CDG-IIm", + "CDG2M", + "Congenital disorder of glycosylation type 2m", + "Congenital disorder of glycosylation type IIm", + "Congenital disorder of glycosylation, type IIm", + "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22" + ] + }, + { + "gard_id": "GARD:0012404", + "name": "GMPPA-CDG", + "synonyms": null + }, + { + "gard_id": "GARD:0012405", + "name": "SSR4-CDG", + "synonyms": [ + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy", + "CDG1Y", + "CDG IY", + "CDGIy", + "Congenital disorder of glycosylation type Iy", + "Carbohydrate deficient glycoprotein syndrome type Iy", + "CDG syndrome type Iy", + "CDG-Iy", + "Congenital disorder of glycosylation type 1y" + ] + }, + { + "gard_id": "GARD:0012406", + "name": "STT3A-CDG and STT3B-CDG", + "synonyms": [ + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix", + "CDG1X", + "CDGIx", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw", + "CDGIw" + ] + }, + { + "gard_id": "GARD:0012407", + "name": "Adverse events of 5-alpha-reductase inhibitors", + "synonyms": [ + "Post Finasteride syndrome" + ] + }, + { + "gard_id": "GARD:0012409", + "name": "SLC35A1-CDG (CDG-IIf)", + "synonyms": [ + "CDG IIf", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf", + "CDG2F", + "CDG syndrome type IIf", + "CMP-sialic acid transporter deficiency", + "Carbohydrate deficient glycoprotein syndrome type IIf", + "Congenital disorder of glycosylation type 2f", + "Congenital disorder of glycosylation type IIf", + "CDG-IIf", + "SLC35A1-CDG" + ] + }, + { + "gard_id": "GARD:0012411", + "name": "COG8-CDG (CDG-IIh)", + "synonyms": [ + "Congenital disorder of glycosylation, type IIh", + "CDG syndrome type IIh", + "CDG-IIh", + "CDG2H", + "Carbohydrate deficient glycoprotein syndrome type IIh", + "Congenital disorder of glycosylation type 2h", + "Congenital disorder of glycosylation type IIh", + "CDG IIh", + "COG8-CDG" + ] + }, + { + "gard_id": "GARD:0012412", + "name": "COG4-CDG (CDG-IIj)", + "synonyms": [ + "CDG syndrome type IIj", + "CDG-IIj", + "CDG2J", + "Carbohydrate deficient glycoprotein syndrome type IIj", + "Congenital disorder of glycosylation type IIj", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj", + "COG4-CDG", + "Congenital disorder of glycosylation type 2j" + ] + }, + { + "gard_id": "GARD:0012413", + "name": "TMEM165-CDG (CDG-IIk)", + "synonyms": [ + "CDG syndrome type IIk", + "CDG2K", + "CDG-IIk", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk", + "TMEM165-CDG", + "Carbohydrate deficient glycoprotein syndrome type IIk", + "Congenital disorder of glycosylation type 2k", + "Congenital disorder of glycosylation type IIk" + ] + }, + { + "gard_id": "GARD:0012415", + "name": "DHDDS-CDG", + "synonyms": null + }, + { + "gard_id": "GARD:0012416", + "name": "DPM2-CDG", + "synonyms": [ + "Congenital muscular dystrophy with intellectual disability and severe epilepsy", + "CDG syndrome type Iu", + "CDG-Iu", + "CDG1U", + "CMD with intellectual disability and severe epilepsy", + "Carbohydrate deficient glycoprotein syndrome type Iu", + "Congenital disorder of glycosylation type Iu", + "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu", + "Congenital disorder of glycosylation type 1u" + ] + }, + { + "gard_id": "GARD:0012417", + "name": "MAN1B1-CDG", + "synonyms": [ + "Intellectual disability-truncal obesity syndrome", + "Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency", + "Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency", + "Congenital disorder of glycosylation type II due to MAN1B1 deficiency" + ] + }, + { + "gard_id": "GARD:0012421", + "name": "Partial duplication of the short arm of chromosome X", + "synonyms": [ + "Partial duplication of chromosome Xp", + "Partial trisomy of chromosome Xp", + "Partial trisomy of the short arm of chromosome X", + "Partial trisomy of chromosome Xp" + ] + }, + { + "gard_id": "GARD:0012426", + "name": "Congenital intrauterine infection-like syndrome", + "synonyms": [ + "Band-like calcification with simplified gyration and polymicrogyria", + "BLCPMG", + "BLC-PMG", + "Baraitser-Brett-Piesowicz syndrome", + "Baraitser-Reardon syndrome", + "Bilateral band-like calcification with polymicrogyria", + "Microcephaly - intracranial calcification - intellectual disability", + "Pseudo-TORCH syndrome", + "Microcephaly-intracranial calcification-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0012428", + "name": "Cutaneous collagenous vasculopathy", + "synonyms": [ + "CCV" + ] + }, + { + "gard_id": "GARD:0012429", + "name": "Charcot-Marie-Tooth disease type 2N", + "synonyms": [ + "CMT2N", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N", + "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N", + "Autosomal dominant Charcot-Marie-Tooth disease type 2N" + ] + }, + { + "gard_id": "GARD:0012431", + "name": "Charcot-Marie-Tooth disease type 2", + "synonyms": [ + "Autosomal dominant Charcot-Marie-Tooth disease type 2", + "Hereditary motor and sensory neuropathy type 2", + "CMT2", + "Charcot-Marie-Tooth type 2", + "Autosomal dominant axonal Charcot-Marie-Tooth disease" + ] + }, + { + "gard_id": "GARD:0012432", + "name": "Charcot-Marie-Tooth disease type 2L", + "synonyms": [ + "Autosomal dominant Charcot-Marie-Tooth disease type 2L", + "CMT2L" + ] + }, + { + "gard_id": "GARD:0012433", + "name": "Charcot-Marie-Tooth disease type 1", + "synonyms": [ + "Autosomal dominant demyelinating Charcot-Marie-Tooth disease", + "CMT1", + "Hereditary motor and sensory neuropathy type 1", + "Charcot-Marie-Tooth type 1", + "Charcot-Marie-Tooth neuropathy type 1", + "HMSN1", + "Hereditary motor and sensory neuropathy 1" + ] + }, + { + "gard_id": "GARD:0012434", + "name": "Charcot-Marie-Tooth disease type 2O", + "synonyms": [ + "CMT2O", + "Autosomal dominant Charcot-Marie-Tooth disease type 2O", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O", + "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O" + ] + }, + { + "gard_id": "GARD:0012435", + "name": "Charcot-Marie-Tooth disease type 2P", + "synonyms": [ + "CMT2P", + "Charcot-Marie-Toothe disease, axonal, type 2P", + "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P" + ] + }, + { + "gard_id": "GARD:0012436", + "name": "Autosomal dominant intermediate Charcot-Marie-Tooth", + "synonyms": [ + "CMTDI", + "Autosomal dominant intermediate Charcot-Marie-Tooth disease" + ] + }, + { + "gard_id": "GARD:0012437", + "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A", + "synonyms": [ + "CMTDIA", + "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A", + "CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE A", + "DI-CMTA" + ] + }, + { + "gard_id": "GARD:0012438", + "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B", + "synonyms": [ + "CMTDIB", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P", + "DI-CMTB", + "CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B", + "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" + ] + }, + { + "gard_id": "GARD:0012439", + "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C", + "synonyms": [ + "CMTDIC", + "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C", + "YARS-related intermediate Charcot-Marie-Tooth neuropathy", + "DI-CMTC" + ] + }, + { + "gard_id": "GARD:0012440", + "name": "Charcot-Marie-Tooth disease type 4", + "synonyms": [ + "Autosomal recessive demyelinating Charcot-Marie-Tooth", + "AR-CMT1", + "CMT4" + ] + }, + { + "gard_id": "GARD:0012441", + "name": "Charcot-Marie-Tooth disease type 4F", + "synonyms": null + }, + { + "gard_id": "GARD:0012442", + "name": "Charcot-Marie-Tooth disease type 4H", + "synonyms": [ + "CMT4H", + "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H", + "CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", + "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", + "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H" + ] + }, + { + "gard_id": "GARD:0012443", + "name": "Charcot-Marie-Tooth disease type 4J", + "synonyms": [ + "CMT4J", + "CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J", + "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J" + ] + }, + { + "gard_id": "GARD:0012444", + "name": "X-linked Charcot-Marie-Tooth disease", + "synonyms": [ + "CMTX", + "X-linked hereditary motor and sensory neuropathy" + ] + }, + { + "gard_id": "GARD:0012445", + "name": "X-linked Charcot-Marie-Tooth disease type 6", + "synonyms": [ + "CMT6X", + "CMTX6", + "Charcot-Marie-Tooth disease, X-linked dominant, 6", + "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6" + ] + }, + { + "gard_id": "GARD:0012446", + "name": "Charcot-Marie-Tooth disease type 2Q", + "synonyms": [ + "CMT2Q", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q", + "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q", + "Autosomal dominant Charcot-Marie-Tooth disease type 2Q" + ] + }, + { + "gard_id": "GARD:0012447", + "name": "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons", + "synonyms": [ + "Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons", + "CMT2 with giant axons", + "HMSN2 with giant axons" + ] + }, + { + "gard_id": "GARD:0012448", + "name": "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness", + "synonyms": [ + "ARCMT2K", + "Autosomal recessive axonal CMT4C4", + "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K", + "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis", + "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" + ] + }, + { + "gard_id": "GARD:0012451", + "name": "Charcot-Marie-Tooth disease type 2R", + "synonyms": [ + "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R", + "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R", + "CMT2R" + ] + }, + { + "gard_id": "GARD:0012452", + "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease ", + "synonyms": [ + "RI-CMT" + ] + }, + { + "gard_id": "GARD:0012453", + "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A", + "synonyms": [ + "RI-CMT type A", + "Charcot-Marie-Tooth disease, recessive intermediate, A", + "CMTRIA" + ] + }, + { + "gard_id": "GARD:0012454", + "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B", + "synonyms": [ + "RI-CMT type B", + "Charcot-Marie-Tooth disease, recessive intermediate, B", + "CMTRIB", + "CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B", + "RI-CMTB" + ] + }, + { + "gard_id": "GARD:0012458", + "name": "Sickle cell - hemoglobin D disease", + "synonyms": [ + "HbSD disease", + "Sickle cell-hemoglobin D disease syndrome" + ] + }, + { + "gard_id": "GARD:0012459", + "name": "Sickle cell disease associated with an other hemoglobin anomaly", + "synonyms": [ + "Double heterozygotes sickling disorder" + ] + }, + { + "gard_id": "GARD:0012469", + "name": "Glutaric acidemia type III", + "synonyms": [ + "Glutaric acidemia type 3", + "Glutaric aciduria type III", + "GA III", + "Glutaric aciduria type 3", + "Glutaryl-CoA oxidase deficiency" + ] + }, + { + "gard_id": "GARD:0012470", + "name": "Peroxisomal beta-oxidation disorder", + "synonyms": null + }, + { + "gard_id": "GARD:0012471", + "name": "Leukoencephalopathy - dystonia - motor neuropathy ", + "synonyms": [ + "STEROL CARRIER PROTEIN 2 DEFICIENCY", + "Leukoencephalopathy with dystonia and motor neuropathy", + "Leukoencephalopathy-dystonia-motor neuropathy syndrome" + ] + }, + { + "gard_id": "GARD:0012472", + "name": "Deafness, dystonia, and cerebral hypomyelination ", + "synonyms": [ + "DDCH", + "CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME", + "Zellweger-like contiguous gene deletion syndrome", + "CADDS", + "Contiguous ABCD1 DXS1357E deletion syndrome" + ] + }, + { + "gard_id": "GARD:0012474", + "name": "Periodontal Ehlers-Danlos syndrome", + "synonyms": [ + "Ehlers-Danlos syndrome, type VIII (formerly)", + "EDS VIII (formerly)", + "EDS8 (formerly)", + "EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE", + "Ehlers-Danlos syndrome type 8 (formerly)", + "Ehlers-Danlos syndrome, periodontitis type", + "Periodontal EDS", + "pEDS", + "EDS VIII", + "Ehlers-Danlos syndrome type 8" + ] + }, + { + "gard_id": "GARD:0012476", + "name": "Disorder of peroxisomal alpha-, beta- and omega-oxidation", + "synonyms": null + }, + { + "gard_id": "GARD:0012477", + "name": "Disorders with deficiency of a single peroxisomal enzyme", + "synonyms": null + }, + { + "gard_id": "GARD:0012478", + "name": "Bleeding disorder due to P2RY12 defect", + "synonyms": [ + "ADP platelet receptor P2Y12 defect", + "P2Y12 defect", + "Bleeding disorder, platelet-type 8", + "Bleeding disorder due to P2RX1 defect, somatic", + "Bleeding disorder due to ADP platelet receptor P2Y12 defect", + "Bleeding disorder due to P2Y12 defect" + ] + }, + { + "gard_id": "GARD:0012480", + "name": "Tetrasomy 21", + "synonyms": [ + "Isochromosome 21" + ] + }, + { + "gard_id": "GARD:0012483", + "name": "Cor triatriatum dexter", + "synonyms": [ + "Cor triatriatum dextrum", + "Divided right atrium" + ] + }, + { + "gard_id": "GARD:0012484", + "name": "Cor triatriatum sinister", + "synonyms": [ + "Cor triatriatum sinistrum", + "Divided left atrium" + ] + }, + { + "gard_id": "GARD:0012486", + "name": "Graham-Cox syndrome", + "synonyms": [ + "Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome", + "Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia", + "MENTAL RETARDATION, X-LINKED, SYNDROMIC 28", + "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" + ] + }, + { + "gard_id": "GARD:0012487", + "name": "Intellectual disability - hypoplastic corpus callosum - preauricular tag", + "synonyms": [ + "Da Silva syndrome", + "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome" + ] + }, + { + "gard_id": "GARD:0012489", + "name": "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis", + "synonyms": [ + "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome" + ] + }, + { + "gard_id": "GARD:0012491", + "name": "X-linked lissencephaly with abnormal genitalia", + "synonyms": [ + "X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies", + "X-linked lissencephaly with ambiguous genitalia", + "XLAG syndrome", + "Hydranencephaly with abnormal genitalia", + "Lissencephaly, X-linked 2", + "LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA", + "XLISG", + "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome", + "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome", + "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" + ] + }, + { + "gard_id": "GARD:0012492", + "name": "20p12.3 microdeletion syndrome", + "synonyms": [ + "Del(20)(p12.3)", + "Monosomy 20p12.3" + ] + }, + { + "gard_id": "GARD:0012494", + "name": "Aromatase excess syndrome", + "synonyms": [ + "Familial hyperestrogenism", + "AEXS", + "AROMATASE ACTIVITY, INCREASED", + "Hereditary prepubertal gynecomastia" + ] + }, + { + "gard_id": "GARD:0012501", + "name": "Intellectual disability-severe speech delay-mild dysmorphism syndrome ", + "synonyms": [ + "Intellectual disability with language impairment and with or without autistic features", + "FOXP1 related global developmental delay, intellectual disability and speech defects", + "FOXP1 syndrome" + ] + }, + { + "gard_id": "GARD:0012502", + "name": "Globozoospermia", + "synonyms": [ + "SPERMATOGENIC FAILURE 9", + "SPGF9", + "GLOBOZOOSPERMIA, COMPLETE", + "GLOBOZOOSPERMIA, TOTAL", + "Male infertility due to globozoospermia", + "Male infertility due to round-headed spermatozoa", + "Mae infertility due to round-headed spermatozoa", + "Round-headed sperm syndrome" + ] + }, + { + "gard_id": "GARD:0012503", + "name": "Atypical Gaucher disease due to saposin C deficiency", + "synonyms": [ + "Gaucher disease, atypical" + ] + }, + { + "gard_id": "GARD:0012504", + "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", + "synonyms": [ + "Cardiovascular Gaucher disease", + "Gaucher disease type 3C", + "Gaucher-like disease", + "Gaucher disease, type IIIC", + "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" + ] + }, + { + "gard_id": "GARD:0012505", + "name": "Encephalopathy due to prosaposin deficiency", + "synonyms": [ + "Combined prosaposin deficiency", + "Combined SAP deficiency", + "COMBINED SAPOSIN DEFICIENCY", + "PSAPD", + "PROSAPOSIN DEFICIENCY" + ] + }, + { + "gard_id": "GARD:0012510", + "name": "Gangliosidosis", + "synonyms": null + }, + { + "gard_id": "GARD:0012513", + "name": "Male infertility with spermatogenesis disorder due to single gene mutation ", + "synonyms": null + }, + { + "gard_id": "GARD:0012521", + "name": "IgG4-related disease ", + "synonyms": [ + "IgG4-related systemic disease", + "IgG4-syndrome", + "IgG4-associated disease", + "IgG4-related sclerosing disease", + "IgG4-related systemic sclerosing disease", + "IgG4-related autoimmune disease", + "IgG4-positive multiorgan lymphoproliferative syndrome", + "Hyper-IgG4 disease", + "Systemic IgG4-related plasmacytic syndrome", + "Systemic IgG4-related sclerosing syndrome", + "Multifocal fibrosclerosis", + "Multifocal idiopathic fibrosclerosis", + "Immunoglobulin G4-related sclerosing disease" + ] + }, + { + "gard_id": "GARD:0012522", + "name": "Enterovesical fistula", + "synonyms": [ + "Vesicoenteric fistula", + "Intestinovesical fistulae" + ] + }, + { + "gard_id": "GARD:0012524", + "name": "L1 syndrome", + "synonyms": [ + "Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome", + "CRASH syndrome", + "L1CAM syndrome" + ] + }, + { + "gard_id": "GARD:0012525", + "name": "X-linked complicated spastic paraplegia type 1", + "synonyms": [ + "SPG1" + ] + }, + { + "gard_id": "GARD:0012526", + "name": "X-linked complicated corpus callosum agenesis", + "synonyms": [ + "X-linked complicated corpus callosum dysgenesis", + "X-linked partial corpus callosum agenesis", + "X-linked partial agenesis of corpus callosum" + ] + }, + { + "gard_id": "GARD:0012527", + "name": "Limb-girdle muscular dystrophy type 1C", + "synonyms": [ + "LGMD1C", + "Limb-girdle muscular dystrophy due to caveolin-3 deficiency", + "Muscular dystrophy, limb-girdle, type IC", + "Autosomal dominant limb-girdle muscular dystrophy type 1C" + ] + }, + { + "gard_id": "GARD:0012528", + "name": "Limb-girdle muscular dystrophy type 1D", + "synonyms": [ + "Autosomal dominant limb-girdle muscular dystrophy type 1D", + "LGMD1D", + "DNAJB6-related limb-girdle muscular dystrophy D1", + "DNAJB6-related LGMD D1", + "LGMD type 1D" + ] + }, + { + "gard_id": "GARD:0012529", + "name": "Limb-girdle muscular dystrophy type 1E", + "synonyms": [ + "LGMD1E", + "Autosomal dominant limb-girdle muscular dystrophy type 1E" + ] + }, + { + "gard_id": "GARD:0012530", + "name": "Limb-girdle muscular dystrophy type 1F", + "synonyms": [ + "Autosomal dominant limb-girdle muscular dystrophy type 1F", + "LGMD1F", + "Muscular dystrophy, limb-girdle, type 1F", + "TNP03-related limb-girdle muscular dystrophy D2", + "LGMD type 1F", + "TNP03-related LGMD D2" + ] + }, + { + "gard_id": "GARD:0012531", + "name": "Limb-girdle muscular dystrophy type 1G", + "synonyms": [ + "Limb-girdle muscular dystrophy, type 1G", + "Autosomal dominant limb-girdle muscular dystrophy type 1G", + "LGMD1G", + "HNRNPDL-related limb-girdle muscular dystrophy D3", + "HNRNPDL-related LGMD D3", + "LGMD type 1G" + ] + }, + { + "gard_id": "GARD:0012532", + "name": "Limb-girdle muscular dystrophy type 1H", + "synonyms": [ + "LGMD1H", + "Autosomal dominant limb-girdle muscular dystrophy type 1H", + "Muscular dystrophy, limb-girdle, type 1H" + ] + }, + { + "gard_id": "GARD:0012533", + "name": "Limb-girdle muscular dystrophy type 2I", + "synonyms": [ + "Autosomal recessive limb-girdle muscular dystrophy type 2I", + "LGMD2I", + "Limb-girdle muscular dystrophy due to FKRP deficiency", + "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", + "FKRP-related limb-girdle muscular dystrophy R9", + "FKRP-related LGMD R9", + "LGMD due to FKRP deficiency", + "LGMD type 2I" + ] + }, + { + "gard_id": "GARD:0012534", + "name": "Limb-girdle muscular dystrophy type 2J", + "synonyms": [ + "Muscular dystrophy, limb-girdle, type 2J", + "Autosomal recessive limb-girdle muscular dystrophy type 2J", + "LGMD2J", + "Titin-related limb-girdle muscular dystrophy R10", + "LGMD type 2J", + "Titin-related LGMD R10" + ] + }, + { + "gard_id": "GARD:0012535", + "name": "Limb-girdle muscular dystrophy type 2K", + "synonyms": [ + "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", + "Autosomal recessive limb-girdle muscular dystrophy type 2K", + "LGMD2K", + "Limb-girdle muscular dystrophy - intellectual disability", + "Limb-girdle muscular dystrophy-intellectual disability syndrome", + "POMT1-related limb-girdle muscular dystrophy R11", + "LGMD type 2K", + "POMT1-related LGMD R11" + ] + }, + { + "gard_id": "GARD:0012536", + "name": "Limb-girdle muscular dystrophy type 2L", + "synonyms": [ + "Muscular dystrophy, limb-girdle, type 2L", + "Autosomal recessive limb-girdle muscular dystrophy type 2L", + "LGMD2L", + "Anoctamin-5-related limb-girdle muscular dystrophy R12", + "Anoctamin-5-related LGMD R12", + "LGMD type 2L" + ] + }, + { + "gard_id": "GARD:0012538", + "name": "Limb-girdle muscular dystrophy type 2M", + "synonyms": [ + "Autosomal recessive limb-girdle muscular dystrophy type 2M", + "LGMD2M", + "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", + "Fukutin-related limb-girdle muscular dystrophy R13", + "Autosomal recessive LGMD type 2M", + "Fukutin-related LGMD R13", + "LGMD type 2M" + ] + }, + { + "gard_id": "GARD:0012539", + "name": "Limb-girdle muscular dystrophy type 2N", + "synonyms": [ + "Autosomal recessive limb-girdle muscular dystrophy type 2N", + "LGMD2N", + "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", + "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED", + "POMT2-related limb-girdle muscular dystrophy R14", + "LGMD type 2N", + "POMT2-related LGMD R14" + ] + }, + { + "gard_id": "GARD:0012540", + "name": "Limb-girdle muscular dystrophy type 2O", + "synonyms": [ + "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", + "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED", + "LGMD2O", + "Autosomal recessive limb-girdle muscular dystrophy type 2O", + "POMGNT1-related limb-girdle muscular dystrophy R15", + "LGMD type 2O", + "POMGNT1-related LGMD R15" + ] + }, + { + "gard_id": "GARD:0012541", + "name": "Limb-girdle muscular dystrophy type 2P", + "synonyms": [ + "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9", + "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED", + "Autosomal recessive limb-girdle muscular dystrophy type 2P", + "LGMD2P", + "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P", + "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16", + "Alpha-dystroglycan-related LGMD R16", + "LGMD type 2P" + ] + }, + { + "gard_id": "GARD:0012542", + "name": "Limb-girdle muscular dystrophy type 2Q ", + "synonyms": [ + "Muscular dystrophy, limb-girdle, type 2Q", + "Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency", + "LGMD2Q", + "Autosomal recessive limb-girdle muscular dystrophy type 2Q", + "Plectin-related limb-girdle muscular dystrophy R17", + "LGMD type 2Q", + "Plectin-related LGMD R17" + ] + }, + { + "gard_id": "GARD:0012543", + "name": "Limb-girdle muscular dystrophy type 2S", + "synonyms": [ + "Autosomal recessive limb-girdle muscular dystrophy type 2S", + "LGMD2S", + "Muscular dystrophy, limb-girdle, type 2S", + "TRAPPC11-related limb-girdle muscular dystrophy R18", + "LGMD type 2S", + "TRAPPC11-related LGMD R18" + ] + }, + { + "gard_id": "GARD:0012544", + "name": "Limb-girdle muscular dystrophy type 2T", + "synonyms": [ + "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14", + "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED", + "Autosomal recessive limb-girdle muscular dystrophy type 2T", + "LGMD2T", + "GMPPB-related limb-girdle muscular dystrophy R19", + "GMPPB-related LGMD R19", + "LGMD type 2T" + ] + }, + { + "gard_id": "GARD:0012547", + "name": "Selective IgM deficiency", + "synonyms": [ + "Selective immunoglobulin M deficiency", + "SIgMD" + ] + }, + { + "gard_id": "GARD:0012550", + "name": "Adermatoglyphia", + "synonyms": [ + "Absence of fingerprints", + "ADERM", + "ADG", + "Immigration delay disease", + "Congenital absence of fingerprints", + "Isolated congenital adermatoglyphia" + ] + }, + { + "gard_id": "GARD:0012551", + "name": "Congenital mirror movement disorder", + "synonyms": [ + "Congenital mirror movements", + "Bimanual synergia", + "Bimanual synkinesis", + "CMM", + "Mirror movements", + "Familial congenital controlateral synkinesia", + "Familial congenital mirror movements", + "Hereditary congenital controlateral synkinesia", + "Hereditary congenital mirror movements", + "Isolated congenital controlateral synkinesia", + "Isolated congenital mirror movements" + ] + }, + { + "gard_id": "GARD:0012556", + "name": "Isolated growth hormone deficiency", + "synonyms": [ + "Non-acquired isolated growth hormone deficiency", + "Congenital isolated growth hormone deficiency", + "Congenital IGHD", + "Congenital isolated GH deficiency" + ] + }, + { + "gard_id": "GARD:0012558", + "name": "SYNGAP1-related non-syndromic intellectual disability", + "synonyms": [ + "MRD5", + "Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia and Autism", + "SYNGAP1-related NSID", + "SYNGAP1 syndrome", + "Autosomal dominant intellectual disability 5" + ] + }, + { + "gard_id": "GARD:0012559", + "name": "Hurler syndrome", + "synonyms": [ + "Mucopolysaccharidosis Ih", + "MPS1-H", + "MPS1H", + "Mucopolysaccharidosis type 1H", + "Mucopolysaccharidosis type IH", + "Hurler disease", + "MPSIH" + ] + }, + { + "gard_id": "GARD:0012560", + "name": "Hurler–Scheie syndrome ", + "synonyms": [ + "Mucopolysaccharidosis Ih/s", + "MPS1-HS", + "MPS1H/S", + "Mucopolysaccharidosis type 1H/S", + "Mucopolysaccharidosis type IH/S", + "Hurler-Scheie syndrome", + "MPSIH/S" + ] + }, + { + "gard_id": "GARD:0012561", + "name": "Scheie syndrome ", + "synonyms": [ + "Mucopolysaccharidosis Is", + "MPS1-S", + "MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY", + "MPS V, FORMERLY", + "MPS5, FORMERLY", + "Mucopolysaccharidosis type 1S", + "Mucopolysaccharidosis type IS", + "MPS1S", + "MPSIS" + ] + }, + { + "gard_id": "GARD:0012562", + "name": "Mucopolysaccharidosis type IV", + "synonyms": [ + "MPS4", + "MPSIV", + "Mucopolysaccharidosis type 4", + "Morquio disease" + ] + }, + { + "gard_id": "GARD:0012568", + "name": "NBIA/DYT/PARK-PLA2G6", + "synonyms": [ + "Dystonia-parkinsonism, Paisan-Ruiz type", + "PLA2G6-related dystonia-parkinsonism", + "Parkinson disease 14, autosomal recessive", + "DYSTONIA-PARKINSONISM, ADULT-ONSET", + "PARK14", + "Adult-onset dystonia-parkinsonism" + ] + }, + { + "gard_id": "GARD:0012569", + "name": "Mitochondrial Membrane Protein-Associated Neurodegeneration ", + "synonyms": [ + "MPAN", + "NBIA due to C19orf12 mutation", + "NBIA4", + "Neurodegeneration with brain iron accumulation due to C19orf12 mutation", + "Neurodegeneration with brain iron accumulation type 4", + "Neurodegeneration with brain iron accumulation 4" + ] + }, + { + "gard_id": "GARD:0012570", + "name": "Beta-Propeller Protein-Associated Neurodegeneration ", + "synonyms": [ + "BPAN", + "NBIA5", + "Neurodegeneration with brain iron accumulation type 5", + "SENDA", + "Static encephalopathy of childhood with neurdegeneration in adulthood", + "Neurodegeneration with brain iron accululation 5", + "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5", + "BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION", + "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD" + ] + }, + { + "gard_id": "GARD:0012571", + "name": "COASY Protein-Associated Neurodegeneration ", + "synonyms": [ + "CoPAN", + "NBIA6", + "Neurodegeneration with brain iron accumulation due to COASY mutation", + "Neurodegeneration with brain iron accumulation 6" + ] + }, + { + "gard_id": "GARD:0012584", + "name": "Congenital muscular dystrophy due to dystroglycanopathy ", + "synonyms": [ + "CMD due to dystroglycanopathy", + "Dystroglycanopathy" + ] + }, + { + "gard_id": "GARD:0012585", + "name": "Congenital muscular dystrophy due to LMNA mutation", + "synonyms": [ + "L-CMD", + "LMNA-related congenital muscular dystrophy", + "MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED", + "MDCL" + ] + }, + { + "gard_id": "GARD:0012587", + "name": "Congenital muscular dystrophy with integrin alpha-7 deficiency", + "synonyms": [ + "Muscular dystrophy, congenital, due to ITGA7 deficiency", + "Congenital muscular dystrophy with ITGA7 deficiency", + "MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY" + ] + }, + { + "gard_id": "GARD:0012588", + "name": "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", + "synonyms": [ + "Lissencephaly type 2 with muscular and ocular involvement", + "MDDGA" + ] + }, + { + "gard_id": "GARD:0012589", + "name": "Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)", + "synonyms": null + }, + { + "gard_id": "GARD:0012590", + "name": "Congenital fibrosis of extraocular muscles", + "synonyms": [ + "FEOM" + ] + }, + { + "gard_id": "GARD:0012591", + "name": "Hereditary proximal myopathy with early respiratory failure", + "synonyms": [ + "ADMERF", + "Edström Myopathy", + "Hereditary inclusion body myopathy with early respiratory failure", + "HMERF", + "HMERF-ERF", + "Myofibrillar myopathy with early respiratory failure", + "Myopathy, proximal, with early respiratory muscle involvement", + "HIBM-ERF", + "Hereditary myopathy with early respiratory failure", + "MFM-titinopathy", + "Myofibrillar myopathy-titinopathy" + ] + }, + { + "gard_id": "GARD:0012592", + "name": "Oculopharyngodistal myopathy", + "synonyms": [ + "OPDM", + "Oculopharyngeal distal myopathy" + ] + }, + { + "gard_id": "GARD:0012598", + "name": "Familial partial lipodystrophy type Köbberling", + "synonyms": [ + "Familial partial lipodystrophy type 1", + "FPLD1", + "Familial partial lipodystrophy, Köbberling type" + ] + }, + { + "gard_id": "GARD:0012599", + "name": "Familial partial lipodystrophy due to AKT2 mutations", + "synonyms": [ + "AKT2-related familial partial lipodystrophy", + "AKT2-related FPLD" + ] + }, + { + "gard_id": "GARD:0012600", + "name": "Familial partial lipodystrophy associated with PPARG mutations", + "synonyms": [ + "Familial partial lipodystrophy type 3", + "FPLD3", + "LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS", + "PPARG-related familial partial lipodystrophy", + "PPARG-related FPLD" + ] + }, + { + "gard_id": "GARD:0012601", + "name": "Familial partial lipodystrophy associated with PLIN1 mutations", + "synonyms": [ + "Lipodystrophy, familial partial, type 4", + "FPLD due to PLIN1 mutations", + "FPLD4", + "PLIN1-related familial partial lipodystrophy", + "PLIN1-related FPLD", + "Familial partial lipodystrophy type 4" + ] + }, + { + "gard_id": "GARD:0012603", + "name": "Acquired generalized lipodystrophy", + "synonyms": [ + "Lawrence syndrome", + "Lawrence-Seip syndrome", + "Acquired lipoatrophic diabetes" + ] + }, + { + "gard_id": "GARD:0012613", + "name": "Cardiac-Valvular Ehlers-Danlos syndrome", + "synonyms": [ + "EDS, cardiac valvular type", + "EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM", + "Cardiac-Valvular EDS", + "cvEDS", + "Ehlers-Danlos syndrome, cardiac valvular type" + ] + }, + { + "gard_id": "GARD:0012621", + "name": "Methylmalonic acidemia with homocystinuria type cblJ", + "synonyms": [ + "Methylmalonic aciduria and homocystinuria, cblJ type", + "MAHCJ", + "CblJ defects", + "Cobalamin J defect", + "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ", + "Methylmalonic aciduria with homocystinuria, type cblJ", + "Methylmalonic acidemia with homocystinuria, type cblJ" + ] + }, + { + "gard_id": "GARD:0012623", + "name": "Adenosylcobalamin deficiency", + "synonyms": [ + "Defect in the transport or synthesis of adenosyl-cobalamin", + "Vitamin B12-responsive methylmalonic acidemia", + "Vitamin B12-responsive methylmalonic aciduria" + ] + }, + { + "gard_id": "GARD:0012632", + "name": "Multiple mitochondrial dysfunctions syndrome", + "synonyms": [ + "Fatal multiple mitochondrial dysfunction syndrome", + "Fatal multiple mitochondrial dysfunctions syndrome" + ] + }, + { + "gard_id": "GARD:0012633", + "name": "Rare intellectual disability without developmental anomaly", + "synonyms": [ + "Rare non-syndromic intellectual deficiency", + "Rare non-syndromic intellectual disability", + "Rare NSID" + ] + }, + { + "gard_id": "GARD:0012634", + "name": "Acute alcohol sensitivity ", + "synonyms": [ + "Alcohol intolerance", + "Hangover, susceptibility to" + ] + }, + { + "gard_id": "GARD:0012635", + "name": "Laurence-Moon syndrome", + "synonyms": [ + "LNMS" + ] + }, + { + "gard_id": "GARD:0012638", + "name": "MYD88 deficiency", + "synonyms": [ + "Pyogenic bacterial infections due to MyD88 deficiency", + "Bacterial susceptibility due to TLR signaling pathway deficiency" + ] + }, + { + "gard_id": "GARD:0012639", + "name": "Warfarin sensitivity", + "synonyms": [ + "Coumadin sensitivity" + ] + }, + { + "gard_id": "GARD:0012640", + "name": "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ", + "synonyms": [ + "ALX1-related frontonasal dysplasia", + "Frontonasal dysplasia 3", + "FND3", + "Frontonasal dysplasia type 3" + ] + }, + { + "gard_id": "GARD:0012641", + "name": "Frontonasal dysplasia with alopecia and genital anomaly", + "synonyms": [ + "ALX4-related FNDAG", + "Craniofrontonasal dysplasia with alopecia and hypogonadism", + "Frontonasal dysplasia with alopecia and genital abnomality", + "Frontonasal dysplasia type 2", + "Frontonasal dysplasia-alopecia-genital anomalies syndrome" + ] + }, + { + "gard_id": "GARD:0012642", + "name": "Frontorhiny", + "synonyms": [ + "ALX3-related frontonasal dysplasia", + "Isolated median cleft syndrome", + "FRONTONASAL DYSPLASIA 1", + "FND1", + "Isolated median cleft face syndrome", + "Frontonasal dysplasia type 1" + ] + }, + { + "gard_id": "GARD:0012643", + "name": "Lethal congenital contracture syndrome ", + "synonyms": [ + "LCCS" + ] + }, + { + "gard_id": "GARD:0012644", + "name": "Lethal congenital contracture syndrome 3", + "synonyms": [ + "LCCS3", + "Lethal congenital contracture syndrome type 3" + ] + }, + { + "gard_id": "GARD:0012645", + "name": "Lethal congenital contracture syndrome 4", + "synonyms": null + }, + { + "gard_id": "GARD:0012648", + "name": "Isolated congenital megalocornea", + "synonyms": [ + "Congenital anterior megalophthalmia", + "Megalocornea", + "MGC1", + "MGCN" + ] + }, + { + "gard_id": "GARD:0012650", + "name": "Amoebiasis due to free-living amoebae", + "synonyms": null + }, + { + "gard_id": "GARD:0012651", + "name": "Granulomatous Amebic Encephalitis", + "synonyms": null + }, + { + "gard_id": "GARD:0012652", + "name": "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ", + "synonyms": [ + "Leukoencephalopathy with brain stem and spinal cord involvement - high lactate", + "LBSL", + "Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation", + "MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY", + "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", + "Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" + ] + }, + { + "gard_id": "GARD:0012653", + "name": "DOCK2 Deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0012654", + "name": "Baylisascaris infection ", + "synonyms": null + }, + { + "gard_id": "GARD:0012656", + "name": "Castleman disease", + "synonyms": [ + "Angiofollicular ganglionic hyperplasia", + "Angiofollicular lymph hyperplasia", + "Giant lymph node hyperplasia", + "Benign giant lymphoma" + ] + }, + { + "gard_id": "GARD:0012663", + "name": "Facial arteriovenous malformation", + "synonyms": null + }, + { + "gard_id": "GARD:0012664", + "name": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", + "synonyms": [ + "POR deficiency", + "Congenital adrenal hyperplasia due to cytochrome POR deficiency", + "PORD", + "Disordered steroidogenesis due to cytochrome P450 oxidoreductase", + "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY", + "DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY" + ] + }, + { + "gard_id": "GARD:0012665", + "name": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", + "synonyms": [ + "Classic 21-OHD CAH" + ] + }, + { + "gard_id": "GARD:0012669", + "name": "X-linked intellectual disability, Najm type", + "synonyms": [ + "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia", + "MICPCH", + "Intellectual disability and microcephaly with pontine and cerebellar hypoplasia", + "MICPCH SYNDROME", + "microcephaly with pontine and cerebellar hypoplasia", + "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" + ] + }, + { + "gard_id": "GARD:0012670", + "name": "CASK-Related Disorders", + "synonyms": null + }, + { + "gard_id": "GARD:0012673", + "name": "Actinic lichen planus", + "synonyms": [ + "Actinic LP", + "Lichen planus actinus", + "Lichen planus subtropicus", + "Lichen planus tropicus", + "Lichenoid melanodermatitis", + "Summertime actinic lichenoid eruption" + ] + }, + { + "gard_id": "GARD:0012674", + "name": "Annular lichen planus", + "synonyms": [ + "Annular LP" + ] + }, + { + "gard_id": "GARD:0012675", + "name": "Atrophic lichen planus", + "synonyms": [ + "Atrophic LP" + ] + }, + { + "gard_id": "GARD:0012676", + "name": "Annular atrophic lichen planus", + "synonyms": [ + "Annular atrophic LP" + ] + }, + { + "gard_id": "GARD:0012677", + "name": "Lichen planus pemphigoides", + "synonyms": [ + "LP pemphigoides" + ] + }, + { + "gard_id": "GARD:0012678", + "name": "Lipoic acid synthetase deficiency", + "synonyms": [ + "Pyruvate dehydrogenase lipoic acid synthetase deficiency" + ] + }, + { + "gard_id": "GARD:0012679", + "name": "Lipoic acid biosynthesis defects", + "synonyms": [ + "Lipoate biosynthesis defect", + "Lipoic acid biosynthesis defect" + ] + }, + { + "gard_id": "GARD:0012682", + "name": "Horizontal gaze palsy with progressive scoliosis", + "synonyms": [ + "Progressive external ophthalmoplegia and scoliosis", + "HGPPS", + "Gaze palsy, horizontal, with progressive scoliosis", + "Gaze Palsy, Familial Horizontal, With Progressive Scoliosis" + ] + }, + { + "gard_id": "GARD:0012683", + "name": "Distal hereditary motor neuropathy", + "synonyms": [ + "Distal spinal muscular atrophy", + "dHMN", + "dSMA" + ] + }, + { + "gard_id": "GARD:0012684", + "name": "Familial episodic pain syndrome", + "synonyms": [ + "FEPS" + ] + }, + { + "gard_id": "GARD:0012685", + "name": "Hereditary motor and sensory neuropathy", + "synonyms": [ + "HMSN", + "OBSOLETE: Hereditary motor and sensory neuropathy" + ] + }, + { + "gard_id": "GARD:0012686", + "name": "Diffuse cutaneous mastocytosis", + "synonyms": [ + "DCM", + "Diffuse cutaneous maculopapulous mastocytosis" + ] + }, + { + "gard_id": "GARD:0012687", + "name": "Cutaneous mastocytoma", + "synonyms": [ + "Cutaneous local mastocytoma", + "Multiple mastocytoma", + "Solitary mastocytoma" + ] + }, + { + "gard_id": "GARD:0012688", + "name": "Hereditary sensory and autonomic neuropathy", + "synonyms": [ + "Hereditary sensory autonomic neuropathy", + "HSAN" + ] + }, + { + "gard_id": "GARD:0012697", + "name": "Tumor of cranial and spinal nerves", + "synonyms": [ + "Rare tumor of cranial and spinal nerves" + ] + }, + { + "gard_id": "GARD:0012698", + "name": "Perineurioma", + "synonyms": null + }, + { + "gard_id": "GARD:0012703", + "name": "Osteochondritis dissecans", + "synonyms": [ + "Kônig disease", + "König disease" + ] + }, + { + "gard_id": "GARD:0012704", + "name": "Osteochondrosis", + "synonyms": null + }, + { + "gard_id": "GARD:0012705", + "name": "Collagen VI related muscular dystrophy ", + "synonyms": null + }, + { + "gard_id": "GARD:0012706", + "name": "Painful legs and moving toes syndrome", + "synonyms": [ + "Painless legs-moving toes (variant)", + "PLMT" + ] + }, + { + "gard_id": "GARD:0012713", + "name": "Congenital laryngeal palsy", + "synonyms": [ + "Congenital vocal cord paralysis" + ] + }, + { + "gard_id": "GARD:0012715", + "name": "DDX3X-related intellectual disability", + "synonyms": null + }, + { + "gard_id": "GARD:0012716", + "name": "Elastoderma", + "synonyms": null + }, + { + "gard_id": "GARD:0012718", + "name": "Autosomal recessive centronuclear myopathy", + "synonyms": [ + "Myopathy, centronuclear, autosomal recessive", + "Myopathy, Centronuclear, 2", + "AR-CNM" + ] + }, + { + "gard_id": "GARD:0012719", + "name": "Autosomal dominant centronuclear myopathy", + "synonyms": [ + "Myopathy, Centronuclear, 1", + "Myotubular Myopathy, Autosomal Dominant", + "DNM2-related centronuclear myopathy", + "AD-CNM" + ] + }, + { + "gard_id": "GARD:0012720", + "name": "Fingerprint body myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0012721", + "name": "Warfarin resistance", + "synonyms": null + }, + { + "gard_id": "GARD:0012722", + "name": "ADCY5-related dyskinesia ", + "synonyms": [ + "Dyskinesia, familial, with facial myokymia", + "FDFM", + "Familial dyskinesia and facial myokymia" + ] + }, + { + "gard_id": "GARD:0012724", + "name": "Periventricular heterotopia", + "synonyms": [ + "Periventricular nodular heterotopia", + "PVNH" + ] + }, + { + "gard_id": "GARD:0012731", + "name": "X-linked hereditary sensory and autonomic neuropathy with deafness", + "synonyms": [ + "X-linked HSAN with deafness", + "X-linked auditory neuropathy with peripheral sensory neuropathy type 1", + "Deafness, X-linked 5" + ] + }, + { + "gard_id": "GARD:0012732", + "name": "Hereditary sensory and autonomic neuropathy type 7", + "synonyms": [ + "Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction", + "HSAN with hyperhidrosis and gastrointestinal dysfunction", + "HSAN7", + "Neuropathy, hereditary sensory and autonomic, type VII", + "Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction", + "CIP with hyperhidrosis and gastrointestinal dysfunction", + "Hereditary sensory and autonomic neuropathy type VII" + ] + }, + { + "gard_id": "GARD:0012734", + "name": "Peripheral resistance to thyroid hormones", + "synonyms": [ + "OBSOLETE: Peripheral resistance to thyroid hormones" + ] + }, + { + "gard_id": "GARD:0012735", + "name": "Secondary adrenal insufficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0012740", + "name": "Fibrillary glomerulonephritis ", + "synonyms": [ + "Non-amyloid fibrillary glomerulopathy", + "Congo red-negative amyloidosis-like glomerulopathy", + "Non-amyloid fibrillary glomerulonephritis" + ] + }, + { + "gard_id": "GARD:0012741", + "name": "Immunotactoid or fibrillary glomerulopathy", + "synonyms": [ + "Immunotactoid or fibrillary glomerulonephritis", + "Immunotactoid or fibrillary glomerulopathy", + "Fibrillary glomerulonephritis and immunotactoid glomerulopathy" + ] + }, + { + "gard_id": "GARD:0012742", + "name": "Juvenile polymyositis", + "synonyms": [ + "Juvenile PM" + ] + }, + { + "gard_id": "GARD:0012743", + "name": "ACTG2-related disorders ", + "synonyms": null + }, + { + "gard_id": "GARD:0012744", + "name": "Chronic intestinal pseudoobstruction", + "synonyms": [ + "CIPO" + ] + }, + { + "gard_id": "GARD:0012749", + "name": "Spastic paraplegia 32", + "synonyms": [ + "SPG32", + "Autosomal recessive spastic paraplegia type 32" + ] + }, + { + "gard_id": "GARD:0012754", + "name": "Hypertrichosis universalis", + "synonyms": [ + "Hypertrichosis lanuginosa congenita" + ] + }, + { + "gard_id": "GARD:0012757", + "name": "Acute myeloid leukemia ", + "synonyms": [ + "Acute myelogenous leukemia" + ] + }, + { + "gard_id": "GARD:0012758", + "name": "Acute myeloid leukemia with recurrent genetic anomaly", + "synonyms": [ + "AML with recurrent genetic anomaly" + ] + }, + { + "gard_id": "GARD:0012759", + "name": "Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)", + "synonyms": [ + "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)", + "Acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)", + "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)", + "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)", + "AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)" + ] + }, + { + "gard_id": "GARD:0012760", + "name": "Unclassified acute myeloid leukemia ", + "synonyms": [ + "Unclassified AML" + ] + }, + { + "gard_id": "GARD:0012761", + "name": "AML with myelodysplasia-related features ", + "synonyms": [ + "AML with multilineage dysplasia", + "Acute myeloid leukemia with multilineage dysplasia", + "Acute myeloid leukaemia with myelodysplasia-related features" + ] + }, + { + "gard_id": "GARD:0012762", + "name": "Therapy related acute myeloid leukemia and myelodysplastic syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012763", + "name": "Myeloid sarcoma", + "synonyms": [ + "Chloroma", + "Extramedullary myeloid tumor", + "Granulocytic sarcoma" + ] + }, + { + "gard_id": "GARD:0012764", + "name": "Myeloid proliferations related to Down syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012765", + "name": "Transient myeloproliferative syndrome", + "synonyms": [ + "Transient abnormal myelopoiesis", + "TMD", + "Transient myeloproliferative disease" + ] + }, + { + "gard_id": "GARD:0012766", + "name": "Microduplication Xp11.22-p11.23 syndrome", + "synonyms": [ + "Chromosome Xp11.23-p11.22 duplication syndrome", + "Trisomy Xp11.22-p11.23", + "Dup(X)(p11.22p11.23)", + "Microduplication Xp11.22p11.23 syndrome", + "Trisomy Xp11.22p11.23" + ] + }, + { + "gard_id": "GARD:0012767", + "name": "Preaxial polydactyly of fingers", + "synonyms": [ + "Preaxial polydactyly of hand", + "OBSOLETE: Preaxial polydactyly of fingers" + ] + }, + { + "gard_id": "GARD:0012768", + "name": "Reversible cerebral vasoconstriction syndrome", + "synonyms": [ + "RCVS" + ] + }, + { + "gard_id": "GARD:0012773", + "name": "Rare adenocarcinoma of the breast", + "synonyms": null + }, + { + "gard_id": "GARD:0012774", + "name": "Salivary gland type cancer of the breast", + "synonyms": null + }, + { + "gard_id": "GARD:0012777", + "name": "Multiple congenital anomalies-hypotonia-seizures syndrome type 2", + "synonyms": [ + "MCAHS2", + "Early infantile epileptic encephalopathy 20", + "MCAHS type 2" + ] + }, + { + "gard_id": "GARD:0012779", + "name": "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis", + "synonyms": [ + "RAMSVPS", + "Familial retinal arterial macroaneurysm", + "FRAM", + "Retinal arterial macroaneurysm and supravalvular pulmonic stenosis" + ] + }, + { + "gard_id": "GARD:0012781", + "name": "Multiple congenital anomalies-hypotonia-seizures syndrome", + "synonyms": [ + "Multiple congenital anomalies-hypotonia-seizures syndrome 1", + "MCAHS1", + "PIGN-CDG", + "Congenital disorder of glycosylation due to PIGN deficiency" + ] + }, + { + "gard_id": "GARD:0012782", + "name": "Congenital disorder of glycosylation with developmental anomaly", + "synonyms": null + }, + { + "gard_id": "GARD:0012784", + "name": "Livedoid vasculopathy", + "synonyms": [ + "Segmental hyalinizing vasculopathy", + "Livedo vasculitis", + "Livedoid vasculitis", + "Livedo reticularis with summer ulcerations", + "Livedo reticularis with winter ulcerations" + ] + }, + { + "gard_id": "GARD:0012792", + "name": "Juvenile ossifying fibroma ", + "synonyms": null + }, + { + "gard_id": "GARD:0012794", + "name": "Recessive dystrophic epidermolysis bullosa-generalized other", + "synonyms": [ + "Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis", + "Autosomal recessive dystrophic epidermolysis bullosa, generalized other", + "Generalized mitis RDEB", + "RDEB generalisata mitis", + "RDEB, non-Hallopeau-Siemens type", + "RDEB-O", + "RDEB-generalized other", + "Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type", + "RDEB, generalized intermediate", + "Recessive dystrophic epidermolysis bullosa, generalized intermediate" + ] + }, + { + "gard_id": "GARD:0012795", + "name": "Recessive dystrophic epidermolysis bullosa ", + "synonyms": null + }, + { + "gard_id": "GARD:0012796", + "name": "Dentinogenesis imperfecta type 2", + "synonyms": [ + "DGI-2", + "Dentinogenesis imperfecta, Shields type 2", + "DI-2", + "Capdepont teeth" + ] + }, + { + "gard_id": "GARD:0012798", + "name": "Early-onset, autosomal dominant Alzheimer disease", + "synonyms": [ + "EOFAD", + "Early-onset familial autosomal dominant Alzheimer disease", + "Early-onset autosomal dominant Alzheimer disease", + "Familial Alzheimer disease" + ] + }, + { + "gard_id": "GARD:0012799", + "name": "Late-Onset Familial Alzheimer Disease", + "synonyms": null + }, + { + "gard_id": "GARD:0012800", + "name": "PTEN hamartoma tumor syndrome", + "synonyms": [ + "PHTS" + ] + }, + { + "gard_id": "GARD:0012801", + "name": "Proteus-like syndrome", + "synonyms": [ + "Cohen-Hayden syndrome" + ] + }, + { + "gard_id": "GARD:0012803", + "name": "Phaeohyphomycosis", + "synonyms": null + }, + { + "gard_id": "GARD:0012806", + "name": "Spondylocostal dysostosis 5", + "synonyms": [ + "SCDO5", + "Spondylocostal dysplasia", + "Spondylothoracic dysostosis", + "Costovertebral segmentation anomalies" + ] + }, + { + "gard_id": "GARD:0012807", + "name": "Spondylocostal dysostosis 6", + "synonyms": [ + "SCDO6", + "Spondylocostal dysostosis 6, autosomal recessive" + ] + }, + { + "gard_id": "GARD:0012811", + "name": "Multisystemic smooth muscle dysfunction syndrome", + "synonyms": [ + "Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" + ] + }, + { + "gard_id": "GARD:0012813", + "name": "Pustular psoriasis", + "synonyms": null + }, + { + "gard_id": "GARD:0012814", + "name": "Chromosome 8q24.3 deletion syndrome", + "synonyms": [ + "Verheij syndrome" + ] + }, + { + "gard_id": "GARD:0012815", + "name": "GATAD2B-associated neurodevelopmental disorder", + "synonyms": [ + "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" + ] + }, + { + "gard_id": "GARD:0012816", + "name": "8q12 microduplication syndrome", + "synonyms": [ + "Dup(8)(q12)", + "Trisomy 8q12", + "Chromosome 8q12 microduplication syndrome" + ] + }, + { + "gard_id": "GARD:0012819", + "name": "Generalized pustular psoriasis", + "synonyms": [ + "Psoriasis 14, pustular", + "GPP" + ] + }, + { + "gard_id": "GARD:0012820", + "name": "Pustulosis palmaris et plantaris", + "synonyms": [ + "Palmoplantar pustulosis", + "LPP", + "PPP", + "Localized pustular psoriasis" + ] + }, + { + "gard_id": "GARD:0012821", + "name": "Severe congenital nemaline myopathy", + "synonyms": [ + "Severe congenital nemaline myopathy", + "Severe congenital (neonatal) NM" + ] + }, + { + "gard_id": "GARD:0012822", + "name": "Typical congenital nemaline myopathy ", + "synonyms": [ + "Typical nemaline myopathy" + ] + }, + { + "gard_id": "GARD:0012823", + "name": "Intermediate congenital nemaline myopathy", + "synonyms": [ + "Intermediate congenital NM", + "Intermediate nemaline myopathy" + ] + }, + { + "gard_id": "GARD:0012824", + "name": "Adult-onset nemaline myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0012825", + "name": "FOXG1 syndrome", + "synonyms": [ + "FOXG1-related disorder" + ] + }, + { + "gard_id": "GARD:0012827", + "name": "Hypotrichosis-lymphedema-telangiectasia syndrome", + "synonyms": [ + "Hypotrichosis lymphedema telangiectasia syndrome", + "HLTS", + "Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome", + "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" + ] + }, + { + "gard_id": "GARD:0012829", + "name": "Nontuberculous mycobacterial lung disease", + "synonyms": [ + "Non-tuberculous mycobacterial lung disease", + "Pulmonary non-tuberculous mycobacterial infection" + ] + }, + { + "gard_id": "GARD:0012831", + "name": "Myosinopathies", + "synonyms": [ + "Hereditary myosin myopathies", + "Myosin heavy chain diseases" + ] + }, + { + "gard_id": "GARD:0012832", + "name": "Dilated cardiomyopathy-1S ", + "synonyms": [ + "Cardiomyopathy, dilated, 1S", + "Left ventricular noncompaction 5" + ] + }, + { + "gard_id": "GARD:0012835", + "name": "Acute interstitial pneumonia", + "synonyms": [ + "Acute interstitial pneumonitis", + "Hamman-Rich syndrome" + ] + }, + { + "gard_id": "GARD:0012836", + "name": "PURA syndrome", + "synonyms": [ + "PURA-related neurodevelopmental disorder" + ] + }, + { + "gard_id": "GARD:0012843", + "name": "Disseminated peritoneal leiomyomatosis", + "synonyms": [ + "Diffuse peritoneal leiomyomatosis", + "Leiomyomatosis peritonealis disseminate", + "DPL", + "LPD" + ] + }, + { + "gard_id": "GARD:0012844", + "name": "Deafness and myopia syndrome", + "synonyms": [ + "High myopia-sensorineural deafness syndrome" + ] + }, + { + "gard_id": "GARD:0012845", + "name": "CHOPS syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012851", + "name": "GRIN2B related syndrome", + "synonyms": [ + "GRIN2B-related intellectual disability", + "Autosomal dominant intellectual disability-6", + "GRIN2B encephalopathy", + "Intellectual disability, autosomal dominant 6, with or without seizures", + "GRIN2B-related neurodevelopmental disorder" + ] + }, + { + "gard_id": "GARD:0012852", + "name": "MBD25–related intellectual disability", + "synonyms": [ + "Autosomal dominant intellectual disability 1", + "MBD5 Haploinsufficiency" + ] + }, + { + "gard_id": "GARD:0012854", + "name": "Paroxysmal extreme pain disorder", + "synonyms": [ + "Familial rectal syndrome", + "PEPD", + "PEXPD", + "Submandibular, ocular, and rectal pain with flushing", + "Familial rectal pain" + ] + }, + { + "gard_id": "GARD:0012856", + "name": "Trigeminal trophic syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012860", + "name": "Ataxia with Oculomotor Apraxia Type 2", + "synonyms": [ + "SCAN2", + "Autosomal recessive spinocerebellar ataxia-1", + "Ataxia-oculomotor apraxia type 2", + "AOA2", + "SCAN 2", + "SCAR1", + "Spinocerebellar ataxia with axonal neuropathy type 2" + ] + }, + { + "gard_id": "GARD:0012861", + "name": "Brown-Vialetto-Van Laere syndrome 2\t", + "synonyms": null + }, + { + "gard_id": "GARD:0012862", + "name": "Generalized peeling skin syndrome", + "synonyms": [ + "Generalized PSS", + "Generalized deciduous skin" + ] + }, + { + "gard_id": "GARD:0012863", + "name": "Acral peeling skin syndrome", + "synonyms": [ + "Acral PSS", + "Acral deciduous skin", + "Localized PSS", + "Localized deciduous skin" + ] + }, + { + "gard_id": "GARD:0012864", + "name": "Hepatic lipase deficiency", + "synonyms": [ + "Hyperlipidemia due to hepatic triglyceride lipase deficiency", + "LIPC Deficiency", + "Hyperlipidemia due to hepatic lipase deficiency", + "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency", + "Hyperlipidemia due to HL deficiency", + "Hyperlipidemia due to HTGL deficiency" + ] + }, + { + "gard_id": "GARD:0012867", + "name": "ACTH-secreting pituitary adenoma", + "synonyms": [ + "Corticotroph pituitary adenoma", + "Pituitary corticotroph micro-adenoma", + "Pituitary dependent Cushing syndrome", + "Pituitary-dependent Cushing syndrome", + "Cushing's Disease", + "Cushing disease" + ] + }, + { + "gard_id": "GARD:0012868", + "name": "IRVAN syndrome", + "synonyms": [ + "Idiopathic retinal-aneurysms-neuroretinitis syndrome", + "Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome" + ] + }, + { + "gard_id": "GARD:0012874", + "name": "Osteogenesis imperfecta type X", + "synonyms": [ + "Osteogenesis imperfecta type 10", + "OI type 10", + "OI type X" + ] + }, + { + "gard_id": "GARD:0012875", + "name": "Osteogenesis imperfecta type XI", + "synonyms": [ + "OI11", + "OI type 11", + "OI type XI", + "Osteogenesis imperfecta type 11" + ] + }, + { + "gard_id": "GARD:0012889", + "name": "Childhood apraxia of speech", + "synonyms": [ + "Developmental apraxia of speech", + "Developmental verbal apraxia", + "Developmental verbal dyspraxia", + "DAS", + "Articulatory apraxia", + "Speech and language disorder with orofacial dyspraxia", + "Speech-language disorder type 1", + "Speech-language disorder-1", + "CAS" + ] + }, + { + "gard_id": "GARD:0012892", + "name": "Combined oxidative phosphorylation deficiency 16", + "synonyms": [ + "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency", + "Combined oxidative phosphorylation defect type 16", + "COXPD16" + ] + }, + { + "gard_id": "GARD:0012893", + "name": "Combined oxidative phosphorylation deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0012894", + "name": "Zika virus infection", + "synonyms": [ + "Zika fever", + "Zika virus disease" + ] + }, + { + "gard_id": "GARD:0012900", + "name": "Early infantile epileptic encephalopathy 4", + "synonyms": [ + "EIEE4", + "STXBP1-related early-onset encephalopathy", + "STXBP1 disorders" + ] + }, + { + "gard_id": "GARD:0012901", + "name": "Early infantile epileptic encephalopathy 25", + "synonyms": [ + "SLC13A5 deficiency", + "EIEE25" + ] + }, + { + "gard_id": "GARD:0012908", + "name": "Duarte Galactosemia", + "synonyms": null + }, + { + "gard_id": "GARD:0012911", + "name": "Scleritis", + "synonyms": null + }, + { + "gard_id": "GARD:0012913", + "name": "Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome", + "synonyms": [ + "PMSE Syndrome", + "Pretzel syndrome" + ] + }, + { + "gard_id": "GARD:0012915", + "name": "NF-kappa B Essential Modulator Deficiency", + "synonyms": [ + "Immunodeficiency 33", + "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency", + "X-linked MSMD due to IKBKG deficiency", + "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency", + "Familial X-linked 1 atypical mycobacteriosis", + "NEMO deficiency syndrome" + ] + }, + { + "gard_id": "GARD:0012916", + "name": "Rh deficiency syndrome", + "synonyms": [ + "Rh-null syndrome" + ] + }, + { + "gard_id": "GARD:0012919", + "name": "Malignant migrating partial seizures of infancy", + "synonyms": [ + "MMPSI", + "Early infantile epileptic encephalopathy 14", + "EIEE14", + "Malignant migrating partial epilepsy of infancy", + "Migrating partial seizures in infancy", + "Migrating partial epilepsy of infancy", + "Migrating partial seizures of infancy", + "MMPEI", + "MPEI", + "MPSI", + "Epilepsy of infancy with migrating focal seizures", + "Malignant migrating focal seizures of infancy" + ] + }, + { + "gard_id": "GARD:0012921", + "name": "Late-onset junctional epidermolysis bullosa", + "synonyms": [ + "EB progressive", + "JEB-lo" + ] + }, + { + "gard_id": "GARD:0012922", + "name": "Generalized junctional epidermolysis bullosa, non-Herlitz type", + "synonyms": [ + "Generalized atrophic benign epidermolysis bullosa", + "Junctional epidermolysis bullosa generalisata mitis", + "Junctional epidermolysis bullosa, Disentis type", + "GABEB", + "JEB-nH gen", + "JEB, generalized intermediate", + "Junctional epidermolysis bullosa, generalized intermediate" + ] + }, + { + "gard_id": "GARD:0012923", + "name": "Localized junctional epidermolysis bullosa, non-Herlitz type", + "synonyms": [ + "JEB-nH loc" + ] + }, + { + "gard_id": "GARD:0012925", + "name": "Familial multiple lipomatosis", + "synonyms": [ + "Multiple lipomatosis" + ] + }, + { + "gard_id": "GARD:0012927", + "name": "Sudden sensorineural hearing loss", + "synonyms": [ + "Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma", + "Sudden deafness" + ] + }, + { + "gard_id": "GARD:0012930", + "name": "Anonychia congenita", + "synonyms": [ + "Isolated congenital anonychia", + "Autosomal recessive nonsyndromic congenital nail disorder-4", + "Nonsyndromic congenital nail disorder, 4", + "Congenital anonychia" + ] + }, + { + "gard_id": "GARD:0012931", + "name": "ADNP syndrome", + "synonyms": [ + "Helsmoortel-van der Aa Syndrome", + "ADNP-related syndromic intellectual disability-autism spectrum disorder", + "HVDAS" + ] + }, + { + "gard_id": "GARD:0012939", + "name": "Juvenile spondyloarthropathy", + "synonyms": null + }, + { + "gard_id": "GARD:0012940", + "name": "IRF6-Related disorders", + "synonyms": null + }, + { + "gard_id": "GARD:0012941", + "name": "Nuclear gene-encoded Leigh syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0012943", + "name": "X-linked hypophosphatemia", + "synonyms": [ + "X-linked hypophosphatemic rickets", + "XLH", + "Hypophosphatemic rickets, X-linked dominant", + "Hypophophatemia, X-linked", + "Vitamin D-Resistant Rickets, X-linked", + "Hypophophatemic vitamin D-resistant rickets", + "HPDR" + ] + }, + { + "gard_id": "GARD:0012958", + "name": "C1q deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0012959", + "name": "Primary orthostatic hypotension", + "synonyms": [ + "Neurogenic Orthostatic Hypotension" + ] + }, + { + "gard_id": "GARD:0012963", + "name": "MEGDEL syndrome", + "synonyms": [ + "3-MGCA type IV (formerly)", + "3-MGCA-4 (formerly)", + "SERAC1 defect", + "3-methylglutaconic aciduria type VI" + ] + }, + { + "gard_id": "GARD:0012964", + "name": "DCMA syndrome", + "synonyms": [ + "Dilated cardiomyopathy with ataxia", + "3-methylglutaconic aciduria, type V", + "3-methylglutaconic aciduria type 5", + "MGA5" + ] + }, + { + "gard_id": "GARD:0012965", + "name": "TMEM70 defect", + "synonyms": [ + "3-MGCA type IV (3-MGCA-4) (formerly)", + "TMEM70-related mitochondrial encephalo-cardio-myopathy", + "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency", + "Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency", + "Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency" + ] + }, + { + "gard_id": "GARD:0012967", + "name": "Reticulohistiocytoma", + "synonyms": [ + "Solitary reticulohistiocytosis", + "Solitary histiocytoma" + ] + }, + { + "gard_id": "GARD:0012973", + "name": "Madelung deformity", + "synonyms": null + }, + { + "gard_id": "GARD:0012974", + "name": "Lipedematous Scalp", + "synonyms": [ + "Localized lipomatosis of the scalp with or without alopecia" + ] + }, + { + "gard_id": "GARD:0012977", + "name": "Mendelian susceptibility to mycobacterial diseases", + "synonyms": [ + "Idiopathic infection caused by BCG or atypical mycobacteria", + "Mendelian susceptibility to atypical mycobacteria", + "Mendelian susceptibility to mycobacterial diseases", + "Mendelian susceptibility to mycobacterial infections", + "MSMD" + ] + }, + { + "gard_id": "GARD:0012978", + "name": "Myopathy with extrapyramidal signs", + "synonyms": [ + "Proximal myopathy with extrapyramidal signs" + ] + }, + { + "gard_id": "GARD:0012980", + "name": "Monoclonal mast cell activation syndrome", + "synonyms": [ + "MMAS", + "Monoclonal MCAD" + ] + }, + { + "gard_id": "GARD:0012981", + "name": "Mast cell activation syndrome", + "synonyms": [ + "MCAS" + ] + }, + { + "gard_id": "GARD:0012983", + "name": "Hereditary folate malabsorption", + "synonyms": [ + "Folate malabsorption, hereditary", + "Congenital folate malabsorption", + "Congenital defect of folate absorption", + "Folic acid transport defect" + ] + }, + { + "gard_id": "GARD:0012991", + "name": "Aquagenic syringeal acrokeratoderma", + "synonyms": [ + "Aquagenic Palmoplantar Keratoderma", + "Aquagenic wrinkling of the hands", + "Transient reactive papulotranslucent acrokeratoderma", + "Aquagenic keratoderma", + "Aquagenic wrinkling of the palms" + ] + }, + { + "gard_id": "GARD:0012994", + "name": "Craniofacial microsomia", + "synonyms": null + }, + { + "gard_id": "GARD:0012996", + "name": "SCN1A-related seizure disorders", + "synonyms": null + }, + { + "gard_id": "GARD:0012999", + "name": "MED13L haploinsufficiency syndrome", + "synonyms": [ + "Cardiac anomalies-developmental delay-facial dysmorphism syndrome", + "Intellectual disability and distinctive facial features with or without cardiac defects", + "MED13L syndrome" + ] + }, + { + "gard_id": "GARD:0013000", + "name": "Chromosome 18q deletion", + "synonyms": null + }, + { + "gard_id": "GARD:0013003", + "name": "Lupus erythematosus tumidus", + "synonyms": [ + "Tumid lupus erythematosus", + "Intermittent cutaneous lupus" + ] + }, + { + "gard_id": "GARD:0013004", + "name": "Hepatic veno-occlusive disease", + "synonyms": [ + "Hepatic veno-occlusive disease", + "Sinusoidal obstruction syndrome" + ] + }, + { + "gard_id": "GARD:0013007", + "name": "Methemoglobinemia, beta-globin type", + "synonyms": [ + "Hemoglobin M disease", + "Blue baby syndrome", + "Autosomal dominant methemoglobinemia", + "Hereditary methemoglobinemia due to hemoglobin mutation", + "M hemoglobinopathy" + ] + }, + { + "gard_id": "GARD:0013011", + "name": "ANCA-associated vasculitis", + "synonyms": [ + "Anti-neutrophil cytoplasmic antibody-associated vasculitis", + "Antineutrophil cytoplasmic antibody-associated vasculitis", + "AAV" + ] + }, + { + "gard_id": "GARD:0013013", + "name": "Elizabethkingia anophelis infection", + "synonyms": null + }, + { + "gard_id": "GARD:0013015", + "name": "Obesity due to congenital leptin deficiency", + "synonyms": [ + "Leptin deficiency or dysfunction", + "LEPD", + "Obesity, morbid, nonsyndromic 1", + "Obesity due to congenital leptin deficiency" + ] + }, + { + "gard_id": "GARD:0013016", + "name": "Autosomal recessive early-onset inflammatory bowel disease", + "synonyms": [ + "Autosomal recessive early-onset IBD", + "Autosomal recessive early-onset inflammatory bowel disease", + "IL10-related early-onset inflammatory bowel disease", + "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome", + "IL10-related early-onset IBD" + ] + }, + { + "gard_id": "GARD:0013018", + "name": "10q22.3q23 microdeletion syndrome", + "synonyms": [ + "Del(10)(q22.3q23.3)", + "Deletion 10q22.3q23.3", + "Monosomy 10q22.3q23.3" + ] + }, + { + "gard_id": "GARD:0013019", + "name": "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency", + "synonyms": [ + "Short-chain enoyl-CoA hydratase deficiency", + "ECHS1D" + ] + }, + { + "gard_id": "GARD:0013020", + "name": "Microcystic lymphatic malformation", + "synonyms": [ + "Capillary lymphangioma", + "Capillary lymphatic malformation", + "Cutaneous lymphangioma circumscriptum", + "Microcystic infiltrating lymphatic malformation", + "Microcystic lymphangioma", + "Superficial lymphatic malformation", + "Superficial lymphangioma" + ] + }, + { + "gard_id": "GARD:0013022", + "name": "Germ cells tumors", + "synonyms": null + }, + { + "gard_id": "GARD:0013023", + "name": "Alezzandrini syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013027", + "name": "Bier spots", + "synonyms": [ + "Physiologic anaemic macules", + "Angiospastic macules", + "Exaggerated physiologic speckled mottling of skin" + ] + }, + { + "gard_id": "GARD:0013028", + "name": "Dissociative seizures", + "synonyms": [ + "Psychogenic nonepileptic seizures", + "Psychogenic seizures", + "Pseudoseizures", + "Functional seizures", + "Non-epileptic attack disorder (NEAD)", + "PNES" + ] + }, + { + "gard_id": "GARD:0013029", + "name": "Episodic angioedema with eosinophilia", + "synonyms": [ + "Gleich syndrome" + ] + }, + { + "gard_id": "GARD:0013030", + "name": "Deafness-lymphedema-leukemia syndrome", + "synonyms": [ + "Emberger syndrome", + "Lymphedema, primary, with myelodysplasia" + ] + }, + { + "gard_id": "GARD:0013032", + "name": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation", + "synonyms": [ + "Cortical dysplasia, complex, with other brain malformations 1" + ] + }, + { + "gard_id": "GARD:0013034", + "name": "Pancreatic neuroendocrine tumor", + "synonyms": [ + "Pancreatic endocrine tumor", + "Islet cell tumor", + "Pancreatic neuroendocrine neoplasm", + "Neuroendocrine tumor of pancreas", + "Pancreatic NET", + "PNET", + "Well-differentiated NEN of pancreas", + "Well-differentiated neuroendocrine neoplasm of pancreas", + "Well-differentiated pancreatic NEN", + "Well-differentiated pancreatic neuroendocrine neoplasm" + ] + }, + { + "gard_id": "GARD:0013040", + "name": "Necrobiosis lipoidica", + "synonyms": [ + "Necrobiosis lipoidica diabeticorum (formerly)", + "Oppenheim-Urbach disease" + ] + }, + { + "gard_id": "GARD:0013041", + "name": "Autosomal recessive protein C deficiency", + "synonyms": [ + "Hereditary thrombophilia due to congenital protein C deficiency", + "Hereditary thrombophilia due to PC deficiency", + "Autosomal recessive hereditary thrombophilia due to protein C deficiency", + "Thrombophilia due to protein C deficiency, autosomal recessive", + "Autosomal recessive thrombophilia due to congenital protein C deficiency", + "Autosomal recessive thrombophilia due to PC deficiency", + "Severe hereditary thrombophilia due to congenital protein C deficiency" + ] + }, + { + "gard_id": "GARD:0013042", + "name": "Multicentric carpotarsal osteolysis syndrome", + "synonyms": [ + "Multicentric carpo-tarsal osteolysis with or without nephropathy", + "Idiopathic multicentric osteolysis with or without nephropathy" + ] + }, + { + "gard_id": "GARD:0013043", + "name": "PACS1-related syndrome", + "synonyms": [ + "Autosomal dominant intellectual disability-17", + "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome", + "Schuurs-Hoeijmakers syndrome", + "SHMS" + ] + }, + { + "gard_id": "GARD:0013044", + "name": "Epidermoid brain cyst", + "synonyms": [ + "Central nervous system epidermoid cyst", + "Intracranial epidermoid cyst", + "Epidermoid brain tumor" + ] + }, + { + "gard_id": "GARD:0013046", + "name": "Giant cell tumor of bone", + "synonyms": [ + "GCT of bone", + "Osteoclastoma" + ] + }, + { + "gard_id": "GARD:0013047", + "name": "Testicular germ cell tumor", + "synonyms": [ + "Germ cell tumor of testis", + "Testicular germ cell tumor" + ] + }, + { + "gard_id": "GARD:0013048", + "name": "Nevus comedonicus", + "synonyms": [ + "Comedo naevus", + "Comedone naevus" + ] + }, + { + "gard_id": "GARD:0013056", + "name": "Congenital analbuminemia", + "synonyms": [ + "Analbuminemia", + "ANALBA" + ] + }, + { + "gard_id": "GARD:0013058", + "name": "Autosomal dominant multiple pterygium syndrome", + "synonyms": [ + "Distal arthrogryposis type 8" + ] + }, + { + "gard_id": "GARD:0013059", + "name": "Distal arthrogryposis type 5D", + "synonyms": [ + "Distal arthrogryposis type 5 without ophthalmoparesis", + "Distal arthrogryposis type 5 without ophthalmoplegia", + "DA5D" + ] + }, + { + "gard_id": "GARD:0013060", + "name": "KCNQ2-Related Disorders", + "synonyms": null + }, + { + "gard_id": "GARD:0013063", + "name": "Genuine diffuse phlebectasia", + "synonyms": [ + "Bockenheimer syndrome" + ] + }, + { + "gard_id": "GARD:0013070", + "name": "Lewis-Sumner syndrome", + "synonyms": [ + "Multifocal acquired demyelinating sensory and motor neuropathy", + "MADSAM" + ] + }, + { + "gard_id": "GARD:0013072", + "name": "Primary hypomagnesemia with secondary hypocalcemia", + "synonyms": [ + "Hypomagnesemic tetany", + "Hypomagnesemia caused by selective magnesium malabsorption", + "Hypomagnesemia intestinal type 1", + "Intestinal hypomagnesemia with secondary hypocalcemia", + "HOMG1", + "HSH", + "PHSH" + ] + }, + { + "gard_id": "GARD:0013073", + "name": "Nevus comedonicus syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013075", + "name": "Diffuse intrinsic pontine glioma", + "synonyms": [ + "Infiltrative brainstem glioma", + "DIPG" + ] + }, + { + "gard_id": "GARD:0013079", + "name": "Telangiectasia macularis eruptive perstans", + "synonyms": [ + "Paucicellular mastocytosis", + "Telangiectatic cutaneous mastocytosis", + "Telangiectasia macularis eruptiva perstans" + ] + }, + { + "gard_id": "GARD:0013085", + "name": "SCN8A encephalopathy", + "synonyms": [ + "Early infantile epileptic encephalopathy-13", + "Epileptic Encephalopathy, early infantile, 13", + "EIEE13", + "SCN8A epilepsy" + ] + }, + { + "gard_id": "GARD:0013087", + "name": "Pediatric acute-onset neuropsychiatric syndrome", + "synonyms": [ + "PANS" + ] + }, + { + "gard_id": "GARD:0013090", + "name": "Small Intestinal Adenocarcinoma", + "synonyms": [ + "Adenocarcinoma of Small Bowel", + "Small bowel adenocarcinoma", + "Adenocarcinoma of small instestine", + "Adenocarcinoma of the small bowel", + "Adenocarcinoma of the small instestine" + ] + }, + { + "gard_id": "GARD:0013093", + "name": "OPHN1 syndrome", + "synonyms": [ + "OPHN1- related XLID", + "OPHN1 XLMR, X-linked intellectual disability", + "OPHN1 XLMR", + "OPHN1 Deficiency", + "X-linked intellectual disability-cerebellar hypoplasia syndrome", + "Intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance", + "X-linked Intellectual Deficit with Cerebellar Hypoplasia", + "Oligophrenin-1 syndrome" + ] + }, + { + "gard_id": "GARD:0013101", + "name": "Corticosteroid-binding globulin deficiency", + "synonyms": [ + "CBG deficiency", + "Transcortin deficiency" + ] + }, + { + "gard_id": "GARD:0013103", + "name": "Adult T-cell leukemia/lymphoma", + "synonyms": [ + "ATLL", + "Adult T-cell leukaemia", + "Adult T-cell leukaemia/lymphoma (HTLV-1 positive)", + "Adult T-cell lymphoma" + ] + }, + { + "gard_id": "GARD:0013104", + "name": "Fibro-adipose vascular anomaly", + "synonyms": [ + "FAVA", + "Fibro adipose vascular anomaly" + ] + }, + { + "gard_id": "GARD:0013105", + "name": "Dent disease", + "synonyms": [ + "Dent's disease", + "Dents disease", + "Dent syndrome", + "Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis", + "Renal Fanconi syndrome with nephrocalcinosis and renal stones", + "X-linked recessive hypercalciuric hypophosphatemic rickets", + "X-linked recessive nephrolithiasis" + ] + }, + { + "gard_id": "GARD:0013106", + "name": "Orofacial Granulomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0013107", + "name": "Adenosquamous carcinoma of the endometrium", + "synonyms": [ + "Endometrial Adenosquamous Cancer", + "Endometrial Adenosquamous Carcinoma" + ] + }, + { + "gard_id": "GARD:0013108", + "name": "MIRAGE syndrome", + "synonyms": [ + "Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy" + ] + }, + { + "gard_id": "GARD:0013110", + "name": "Progressive encephalomyelitis with rigidity and myoclonus", + "synonyms": [ + "PERM" + ] + }, + { + "gard_id": "GARD:0013111", + "name": "Ataxia with oculomotor apraxia type 4", + "synonyms": [ + "Ataxia-oculomotor apraxia-4", + "AOA4", + "Ataxia-oculomotor apraxia type 4" + ] + }, + { + "gard_id": "GARD:0013112", + "name": "Ataxia with oculomotor apraxia type 3", + "synonyms": [ + "Ataxia-oculomotor apraxia 3", + "Aaxia-oculomotor apraxia-3", + "AOA3" + ] + }, + { + "gard_id": "GARD:0013113", + "name": "Infantile liver failure syndrome 2", + "synonyms": null + }, + { + "gard_id": "GARD:0013114", + "name": "Infantile liver failure syndrome 1", + "synonyms": [ + "Acute infantile liver failure-multisystemic involvement syndrome" + ] + }, + { + "gard_id": "GARD:0013119", + "name": "Granulomatous lobular mastitis", + "synonyms": [ + "Idiopathic granulomatous lobular mastitis" + ] + }, + { + "gard_id": "GARD:0013124", + "name": "Chronic thromboembolic pulmonary hypertension", + "synonyms": [ + "CTEPH" + ] + }, + { + "gard_id": "GARD:0013125", + "name": "Lipodystrophy, familial partial, type 5", + "synonyms": [ + "CIDEC-related familial partial lipodystrophy", + "CIDEC-related FPLD", + "FPLD5" + ] + }, + { + "gard_id": "GARD:0013126", + "name": "LIPE-related familial partial lipodystrophy", + "synonyms": [ + "Lipodystrophy, familial partial, type 6", + "FPLD6", + "LIPE-related FPLD" + ] + }, + { + "gard_id": "GARD:0013131", + "name": "Hematohidrosis", + "synonyms": [ + "Hematidrosis" + ] + }, + { + "gard_id": "GARD:0013136", + "name": "Autosomal dominant intellectual disability 30", + "synonyms": null + }, + { + "gard_id": "GARD:0013137", + "name": "Methylmalonic acidemia and homocysteinemia type cblX", + "synonyms": [ + "Intellectual disability, X-linked 3", + "Methylmalonic acidemia and homocysteinemia, cblX type", + "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX", + "Methylmalonic acidemia with homocystinuria, type cblX", + "Methylmalonic aciduria with homocystinuria, type cblX" + ] + }, + { + "gard_id": "GARD:0013142", + "name": "Acute flaccid myelitis", + "synonyms": null + }, + { + "gard_id": "GARD:0013160", + "name": "Rhizomelic chondrodysplasia punctata", + "synonyms": [ + "RCDP", + "Rhizomelic chondrodysplasia punctata" + ] + }, + { + "gard_id": "GARD:0013163", + "name": "Methylmalonic acidemia without homocystinuria", + "synonyms": [ + "Methylmalonic aciduria without homocystinuria" + ] + }, + { + "gard_id": "GARD:0013169", + "name": "CHST3-related skeletal dysplasia", + "synonyms": [ + "Spondyloepiphyseal dysplasia, Omani type", + "Chondrodysplasia with congenital joint dislocations, CHST3 type", + "Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", + "Spondyloepiphyseal dysplasia with congenital joint dislocations", + "Humerospinal dysostosis" + ] + }, + { + "gard_id": "GARD:0013170", + "name": "Xp22.3 microdeletion syndrome", + "synonyms": [ + "Del(X)(p23)", + "Xp22.3 microdeletion syndrome" + ] + }, + { + "gard_id": "GARD:0013175", + "name": "Renal medullary carcinoma", + "synonyms": [ + "Kidney Medullary Carcinoma" + ] + }, + { + "gard_id": "GARD:0013177", + "name": "Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency", + "synonyms": [ + "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency", + "Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", + "Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency" + ] + }, + { + "gard_id": "GARD:0013179", + "name": "HIVEP2-related intellectual disability", + "synonyms": [ + "Autosomal dominant intellectual disability-43" + ] + }, + { + "gard_id": "GARD:0013186", + "name": "Xanthoma disseminatum", + "synonyms": [ + "Montgomery syndrome" + ] + }, + { + "gard_id": "GARD:0013197", + "name": "CHD2 myoclonic encephalopathy", + "synonyms": [ + "Childhood-onset epileptic encephalopathy", + "EEOC", + "Epileptic encephalopathy, childhood-onset", + "CHD2-related neurodevelopmental disorders", + "CHD2 encephalopathy" + ] + }, + { + "gard_id": "GARD:0013198", + "name": "Otulipenia", + "synonyms": [ + "Autoinflammation, panniculitis, and dermatosis syndrome", + "AIPDS" + ] + }, + { + "gard_id": "GARD:0013199", + "name": "RNAse T2-deficient leukoencephalopathy", + "synonyms": [ + "Leukoencephalopathy, cystic, without megalencephaly", + "Cystic leukoencephalopathy without megalencephaly", + "CLWM" + ] + }, + { + "gard_id": "GARD:0013200", + "name": "RRM2B-related mitochondrial DNA depletion syndrome", + "synonyms": [ + "Mitochondrial DNA depletion syndrome 8A", + "Encephalomyopathic type with renal tubulopathy", + "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy", + "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" + ] + }, + { + "gard_id": "GARD:0013201", + "name": "Carbonic anhydrase VA deficiency", + "synonyms": [ + "Hyperammonemia due to carbonic anhydrase VA deficiency", + "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", + "Mitochondrial carbonic anhydrase va deficiency", + "CA-VA Deficiency" + ] + }, + { + "gard_id": "GARD:0013202", + "name": "HIBCH deficiency", + "synonyms": [ + "3-Hydroxyisobutyryl-CoA hydrolase deficiency", + "Beta-hydroxyisobutyryl-CoA deacylase deficiency", + "Methacrylic aciduria", + "Methacrylic acid toxicity", + "Valine metabolic defect", + "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" + ] + }, + { + "gard_id": "GARD:0013206", + "name": "SATB2-associated syndrome", + "synonyms": [ + "SATB2 syndrome", + "SAS", + "2q32q33 microdeletion syndromes", + "Monosomy 2q32-q33", + "Del(2)(q32q33)", + "Del(2)(q32)", + "2q32-q33 microdeletion syndrome", + "Glass syndrome" + ] + }, + { + "gard_id": "GARD:0013208", + "name": "Hypertrophic olivary degeneration", + "synonyms": [ + "HOD" + ] + }, + { + "gard_id": "GARD:0013209", + "name": "Pituitary stalk interruption syndrome", + "synonyms": [ + "Ectopic neurohypophysis", + "PSIS" + ] + }, + { + "gard_id": "GARD:0013215", + "name": "Renal cell carcinoma", + "synonyms": [ + "Adenocarcinoma of Kidney", + "Renal Cell Adenocarcinoma" + ] + }, + { + "gard_id": "GARD:0013218", + "name": "Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis", + "synonyms": [ + "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis", + "Hereditary sclerosing poikiloderma with tendon and pulmonary involvement", + "POIKTMP", + "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome", + "POIKTMP syndrome" + ] + }, + { + "gard_id": "GARD:0013219", + "name": "BAP1 tumor predisposition syndrome", + "synonyms": [ + "Tumor predisposition syndrome", + "BAP1-related tumor predisposition syndrome", + "Cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms", + "COMMON syndrome", + "BAP1-TPDS", + "Tumor susceptibility linked to germline BAP1 mutations" + ] + }, + { + "gard_id": "GARD:0013220", + "name": "Lethal congenital contracture syndrome 11", + "synonyms": [ + "Lethal congenital contracture arthrogryposis-11", + "LCCS11" + ] + }, + { + "gard_id": "GARD:0013221", + "name": "IQSEC2", + "synonyms": [ + "X-linked intellectual disability 1/78", + "X-linked intellectual disability 1", + "X-linked intellectual disability 78", + "IQSEC2-related epilepsy", + "IQSEC2-related intellectual disability" + ] + }, + { + "gard_id": "GARD:0013222", + "name": "Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2", + "synonyms": [ + "Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures", + "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures", + "SMALED2", + "Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" + ] + }, + { + "gard_id": "GARD:0013223", + "name": "Primary bone cancer", + "synonyms": [ + "Primary malignant neoplasm of bone", + "Rare bone tumor" + ] + }, + { + "gard_id": "GARD:0013232", + "name": "Infection-induced acute encephalopathy 3", + "synonyms": [ + "Familial acute necrotizing encephalopathy", + "ADANE", + "Recurrent acute necrotizing encephalopathy", + "Susceptibility to acute infection-induced encephalopathy-3", + "IIAE3", + "Autosomal dominant acute necrotizing encephalopathy", + "Postinfectious acute necrotizing hemorrhagic encephalopathy", + "Susceptibility to acute necrotizing encephalopathy", + "Susceptibility to Infection-Induced Acute Encephalopathy 3", + "ANE1", + "Acute necrotizing encephalopathy type 1" + ] + }, + { + "gard_id": "GARD:0013233", + "name": "Acute necrotizing encephalopathy", + "synonyms": [ + "Acute necrotizing encephalitis", + "ANE" + ] + }, + { + "gard_id": "GARD:0013235", + "name": "Syndromic microphthalmia-12", + "synonyms": [ + "Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects" + ] + }, + { + "gard_id": "GARD:0013237", + "name": "Marginal zone lymphoma", + "synonyms": [ + "MZL" + ] + }, + { + "gard_id": "GARD:0013238", + "name": "Extracardiac Rhabdomyoma", + "synonyms": null + }, + { + "gard_id": "GARD:0013244", + "name": "Cabezas syndrome", + "synonyms": [ + "Intellectual disability, X-linked, syndromic 15", + "CUL4B-related X-linked intellectual disability", + "X-linked intellectual disability, Cabezas type", + "Cabezas type of X-linked syndromic intellectual disability" + ] + }, + { + "gard_id": "GARD:0013254", + "name": "Skeletal-extraskeletal angiomatosis", + "synonyms": [ + "Cystic angiomatosis" + ] + }, + { + "gard_id": "GARD:0013256", + "name": "Idiopathic hypertrophic pachymeningitis", + "synonyms": [ + "Idiopathic hypertrophic cranial pachymeningitis", + "Idiopathic hypertrophic spinal pachymeningitis", + "Idiopathic hypertrophic craniospinal pachymeningitis" + ] + }, + { + "gard_id": "GARD:0013259", + "name": "Bainbridge-Ropers syndrome", + "synonyms": [ + "Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome", + "ASXL3/Bainbridge-Ropers Syndrome" + ] + }, + { + "gard_id": "GARD:0013264", + "name": "Infantile cerebellar retinal degeneration", + "synonyms": [ + "ICRD", + "Infantile cerebellar-retinal degeneration" + ] + }, + { + "gard_id": "GARD:0013270", + "name": "Extranodal nasal NK/T cell lymphoma", + "synonyms": [ + "NK/T-cell lymphoma", + "Angiocentric T-cell lymphoma", + "Lethal midline granuloma", + "NKTCL", + "Nasal T/natural killer-cell lymphoma" + ] + }, + { + "gard_id": "GARD:0013273", + "name": "Phosphoserine aminotransferase deficiency", + "synonyms": [ + "PSAT deficiency" + ] + }, + { + "gard_id": "GARD:0013277", + "name": "HaNDL syndrome", + "synonyms": [ + "Migrainous syndrome with cerebrospinal fluid pleocytosis", + "Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis: HaNDL", + "Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis", + "PMP syndrome", + "Pseudomigraine with temporary neurologic symptoms and lymphocytic pleocytosis syndrome" + ] + }, + { + "gard_id": "GARD:0013293", + "name": "Glycoprotein VI deficiency", + "synonyms": [ + "Bleeding diathesis due to glycoprotein VI deficiency", + "Platelet-type bleeding disorder-11", + "BDPLT11", + "Bleeding diathesis due to a collagen receptor defect", + "GP VI deficiency" + ] + }, + { + "gard_id": "GARD:0013294", + "name": "Ankyrin-B syndrome", + "synonyms": [ + "Cardiac arrhythmia, ankyrin-B-related" + ] + }, + { + "gard_id": "GARD:0013295", + "name": "Familial focal epilepsy with variable foci", + "synonyms": [ + "FFEVF", + "Familial partial epilepsy with variable foci" + ] + }, + { + "gard_id": "GARD:0013296", + "name": "17q12 duplication", + "synonyms": [ + "Chromosome 17q12 duplication syndrome", + "17q12 microduplication syndrome", + "Trisomy 17q12", + "Recurrent duplication of 17q12", + "17q12 microduplication", + "Dup(17)(q12)" + ] + }, + { + "gard_id": "GARD:0013297", + "name": "17q12 deletion syndrome", + "synonyms": [ + "Chromosome 17q12 deletion syndrome", + "17q12 microdeletion syndrome", + "Del(17)(q12)", + "Monosomy 17q12", + "17q12 recurrent deletion syndrome" + ] + }, + { + "gard_id": "GARD:0013298", + "name": "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome", + "synonyms": [ + "Encephalomyopathic mitochondrial DNA depletion syndrome-13", + "MTDPS13", + "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)", + "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies", + "FBXL4 Deficiency", + "BXL4-Related Early-Onset Mitochondrial Encephalopathy", + "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" + ] + }, + { + "gard_id": "GARD:0013299", + "name": "DEPDC5-Related Epilepsy", + "synonyms": null + }, + { + "gard_id": "GARD:0013307", + "name": "Necrotizing autoimmune myopathy", + "synonyms": [ + "Immune-mediated necrotizing myopathy", + "Anti-HMG-CoA myopathy", + "Anti-SRP myopathy", + "Autoimmune necrotizing myositis", + "IMNM", + "NAM", + "Immune myopathy with myocyte necrosis" + ] + }, + { + "gard_id": "GARD:0013316", + "name": "Schaaf-Yang syndrome", + "synonyms": [ + "Prader-Willi syndrome due to point mutation", + "PWS due to point mutation", + "Prader-Willi-like syndrome", + "Prader-Willi syndrome due to a point mutation", + "PWS due to a point mutation", + "MAGEL2-related Prader-Willi-like syndrome", + "MAGEL2-related PWLS" + ] + }, + { + "gard_id": "GARD:0013318", + "name": "Early Infantile Epileptic Encephalopathy 12", + "synonyms": [ + "Epileptic encephalopathy, early infantile, 12", + "EIEE12" + ] + }, + { + "gard_id": "GARD:0013322", + "name": "Condrodisplasia punctata rizomélica", + "synonyms": null + }, + { + "gard_id": "GARD:0013331", + "name": "Familial reactive perforating collagenosis", + "synonyms": [ + "Inherited reactive perforating collagenosis" + ] + }, + { + "gard_id": "GARD:0013334", + "name": "Niemann-Pick disease", + "synonyms": null + }, + { + "gard_id": "GARD:0013339", + "name": "BENTA disease", + "synonyms": [ + "B-cell expansion with NF-kB and T-cell anergy disease", + "B-cell expansion with NFKB and T-cell anergy" + ] + }, + { + "gard_id": "GARD:0013349", + "name": "Culler-Jones syndrome", + "synonyms": [ + "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome" + ] + }, + { + "gard_id": "GARD:0013354", + "name": "Morning glory syndrome", + "synonyms": [ + "Ectasic coloboma", + "Volubilis syndrome", + "Morning glory disc anomaly" + ] + }, + { + "gard_id": "GARD:0013355", + "name": "SCN2A related disorders", + "synonyms": [ + "SCN2A-related disorders", + "SCN2A related conditions", + "SCN2A-related epilepsy", + "SCN2A disorders", + "SCN2a mutations", + "SCN2A mutation" + ] + }, + { + "gard_id": "GARD:0013361", + "name": "Autosomal recessive intellectual disability 58", + "synonyms": [ + "ELP2-related disorder" + ] + }, + { + "gard_id": "GARD:0013371", + "name": "MAGIC syndrome", + "synonyms": [ + "Mouth and genital ulcers with inflamed cartilage", + "Mouth and genital ulcers-inflamed cartilage syndrome" + ] + }, + { + "gard_id": "GARD:0013373", + "name": "GATA2 deficiency", + "synonyms": null + }, + { + "gard_id": "GARD:0013376", + "name": "Multiple epiphyseal dysplasia 6", + "synonyms": null + }, + { + "gard_id": "GARD:0013378", + "name": "GNAO1 encephalopathy", + "synonyms": [ + "Early infantile epileptic encephalopathy-17" + ] + }, + { + "gard_id": "GARD:0013379", + "name": "SETBP1 disorder", + "synonyms": [ + "SETBP1-related disorder", + "SETBP1-related intellectual disability", + "SETBP1 related developmental delay", + "Autosomal dominant intellectual disability 29" + ] + }, + { + "gard_id": "GARD:0013381", + "name": "Leukoencephalopathy with thalamus and brainstem involvement and high lactate", + "synonyms": [ + "Combined oxidative phosphorylation deficiency 12", + "COXPD12", + "LTBL", + "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", + "Combined oxidative phosphorylation defect type 12" + ] + }, + { + "gard_id": "GARD:0013384", + "name": "Hepatopulmonary syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013388", + "name": "Congenital generalized lipodystrophy", + "synonyms": [ + "Beradinelli-Seip syndrome", + "Generalized congenital lipodystrophy", + "Berardinelli-Seip congenital lipodystrophy", + "Brunzell syndrome", + "BSCL", + "GCL", + "Lipoatrophic diabetes", + "Berardinelli-Seip syndrome" + ] + }, + { + "gard_id": "GARD:0013389", + "name": "Congenital generalized lipodystrophy type 3", + "synonyms": [ + "Type 3 Berardinelli-Seip congenital lipodystrophy" + ] + }, + { + "gard_id": "GARD:0013390", + "name": "12q14 microdeletion syndrome", + "synonyms": [ + "Osteopoikilosis-short stature-intellectual disability syndrome", + "Del(12)(q14)", + "Deletion 12q14", + "Monosomy 12q14" + ] + }, + { + "gard_id": "GARD:0013391", + "name": "2p15p16.1 microdeletion syndrome", + "synonyms": [ + "2p15-p16.1 microdeletion syndrome", + "Del(2)(p15p16.1)", + "Monosomy 2p15-p16.1", + "Monosomy 2p15p16.1" + ] + }, + { + "gard_id": "GARD:0013392", + "name": "16p13.11 microduplication syndrome", + "synonyms": [ + "Dup(16)(p13.11)", + "Trisomy 16p13.11" + ] + }, + { + "gard_id": "GARD:0013402", + "name": "Papillary glioneuronal tumors", + "synonyms": null + }, + { + "gard_id": "GARD:0013406", + "name": "Limbic encephalitis with LGI1 antibodies", + "synonyms": [ + "Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies" + ] + }, + { + "gard_id": "GARD:0013409", + "name": "Xia-Gibbs syndrome", + "synonyms": [ + "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome", + "Autosomal dominant intellectual disability 25" + ] + }, + { + "gard_id": "GARD:0013422", + "name": "Rahman syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013423", + "name": "TANGO2-Related Metabolic Encephalopathy and Arrhythmias", + "synonyms": [ + "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration", + "TANGO2", + "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", + "TANGO2 related disease" + ] + }, + { + "gard_id": "GARD:0013425", + "name": "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", + "synonyms": [ + "ASCT1 deficiency", + "Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", + "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly", + "SPATCCM" + ] + }, + { + "gard_id": "GARD:0013431", + "name": "Temple syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013433", + "name": "Pleuroparenchymal fibroelastosis", + "synonyms": [ + "Idiopathic pleuropulmonary fibroelastosis", + "Idiopathic pleuroparenchymal fibroelastosis", + "IPPFE" + ] + }, + { + "gard_id": "GARD:0013441", + "name": "Congenital Zika syndrome", + "synonyms": [ + "Zika syndrome" + ] + }, + { + "gard_id": "GARD:0013442", + "name": "Bain type of X-linked syndromic intellectual disability", + "synonyms": [ + "HNRNPH2 deficiency" + ] + }, + { + "gard_id": "GARD:0013445", + "name": "Neuroendocrine tumor", + "synonyms": [ + "Neuroendocrine neoplasia", + "Neuroendocrine neoplasm" + ] + }, + { + "gard_id": "GARD:0013446", + "name": "Plasmacytoma", + "synonyms": [ + "Solitary plasmacytoma" + ] + }, + { + "gard_id": "GARD:0013447", + "name": "Papular epidermal nevi with skyline basal cell layers syndrome", + "synonyms": [ + "Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS)", + "Papular Epidermal Nevus with \"Skyline\" Basal Cell Layer Syndrome", + "PENS syndrome" + ] + }, + { + "gard_id": "GARD:0013451", + "name": "Kaposiform lymphangiomatosis", + "synonyms": null + }, + { + "gard_id": "GARD:0013455", + "name": "Jackhammer esophagus", + "synonyms": [ + "Hypercontractile esophagus" + ] + }, + { + "gard_id": "GARD:0013457", + "name": "Anti-PIT-1 antibody syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013461", + "name": "Autosomal dominant tubulointerstitial kidney disease due to REN mutations", + "synonyms": [ + "Familial juvenile hyperuricemic nephropathy type 2", + "REN-associated kidney disease)", + "ADTKD-REN", + "REN-associated FJHN", + "Hyperuricemic nephropathy, familial juvenile 2", + "FJHN type 2", + "REN-associated familial juvenile hyperuricemic nephropathy", + "REN-associated kidney disease", + "ADTKD due to REN mutations", + "Autosomal dominant tubulointerstitial kidney disease, REN-related" + ] + }, + { + "gard_id": "GARD:0013472", + "name": "Hemochromatosis type 5", + "synonyms": [ + "FTH1-related iron overload" + ] + }, + { + "gard_id": "GARD:0013474", + "name": "DEAF1-associated disorders", + "synonyms": [ + "DEAF1 mutations", + "DEAF1-associated neurodevelopmental disorder", + "DEAF1 related disorders", + "DEAF1 autosomal recessive mutations (subtype)", + "DEAF1 autosomal dominant mutations (subtype)" + ] + }, + { + "gard_id": "GARD:0013480", + "name": "Cleft palate, cardiac defects, and intellectual disability", + "synonyms": [ + "MEIS2 haploinsufficiency", + "MEIS2 mutations" + ] + }, + { + "gard_id": "GARD:0013487", + "name": "Corneal neuropathic disease", + "synonyms": [ + "Corneal neuralgia", + "Keratoneuralgia", + "Ocular Neuropathic Pain Syndrome" + ] + }, + { + "gard_id": "GARD:0013488", + "name": "MEPAN syndrome", + "synonyms": [ + "Mitochondrial enoyl CoA reductase protein-associated neurodegeneration", + "Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities", + "DYTOABG", + "Dystonia 20, Childhood-Onset", + "DYT29" + ] + }, + { + "gard_id": "GARD:0013489", + "name": "ZTTK syndrome", + "synonyms": [ + "Zhu-Tokita-Takenouchi-Kim syndrome", + "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0013495", + "name": "Shashi-Pena syndrome", + "synonyms": [ + "ASXL2/Shashi-Pena Syndrome" + ] + }, + { + "gard_id": "GARD:0013497", + "name": "Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms", + "synonyms": [ + "SUNA", + "SUNA headache" + ] + }, + { + "gard_id": "GARD:0013514", + "name": "PHIP-Related disorder", + "synonyms": [ + "Chung-Jansen syndrome", + "CHUJANS", + "Intellectual disability-overweight syndrome caused by PHIP haploinsufficiency", + "Developmental delay, intellectual disability, obesity, and dysmorphism" + ] + }, + { + "gard_id": "GARD:0013519", + "name": "Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1", + "synonyms": [ + "SMA-LED1", + "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures", + "SMALED1", + "Spinal muscular atrophy, lower extremity-predominant 1, dominant", + "Autosomal dominant lower extremity-predominant spinal muscular atrophy-1", + "Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant", + "Autosomal dominant spinal muscular atrophy with lower extremity predominance", + "Spinal muscular atrophy, lower extremity-predominant 1, AD", + "Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures", + "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy", + "DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" + ] + }, + { + "gard_id": "GARD:0013527", + "name": "DYRK1A-Related Intellectual Disability Syndrome", + "synonyms": [ + "DYRK1A Syndrome", + "Autosomal dominant intellectual disability-7" + ] + }, + { + "gard_id": "GARD:0013539", + "name": "Autosomal dominant intellectual disability 40", + "synonyms": [ + "CHAMP1 gene mutation", + "CHAMP1 mutations", + "CHAMP1-associated intellectual disability syndrome" + ] + }, + { + "gard_id": "GARD:0013541", + "name": "Gait ataxia with late onset polyneuropathy syndrome", + "synonyms": [ + "GALOP syndrome", + "Gait disorder antibody late-age onset polyneuropathy", + "Gait disorder, autoantibody to a neural antigen, late-age onset, and polyneuropathy" + ] + }, + { + "gard_id": "GARD:0013565", + "name": "LRBA deficiency", + "synonyms": [ + "Combined immunodeficiency due to LRBA deficiency", + "CID due to LRBA deficiency", + "Common variable immunodeficiency-8 (CVID8) with autoimmunity", + "LATAIE disease", + "LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy" + ] + }, + { + "gard_id": "GARD:0013568", + "name": "Autosomal recessive spastic paraplegia type 49", + "synonyms": [ + "Autosomal recessive spastic paraplegia-49", + "SPG49", + "TECPR2", + "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation", + "HSAN due to TECPR2 mutation" + ] + }, + { + "gard_id": "GARD:0013571", + "name": "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency", + "synonyms": [ + "Episodic encephalopathy due to thiamine pyrophosphokinase deficiency", + "Thiamine metabolism dysfunction syndrome-5", + "THMD5", + "Thiamine pyrophosphokinase deficiency" + ] + }, + { + "gard_id": "GARD:0013578", + "name": "Myelodysplastic Syndrome With Excess Blasts", + "synonyms": [ + "Refractory anemia with excess blasts", + "RAEB" + ] + }, + { + "gard_id": "GARD:0013584", + "name": "Autosomal dominant intellectual disability 49", + "synonyms": [ + "TRIP12 mutations", + "TRIP12 mutation" + ] + }, + { + "gard_id": "GARD:0013587", + "name": "Combined immunodeficiency with skin granulomas", + "synonyms": [ + "Combined cellular and humoral immune defects with granulomas", + "CID due to RAG 1/2 deficiency", + "Combined immunodeficiency due to RAG 1/2 deficiency", + "Combined immunodeficiency with granulomatosis" + ] + }, + { + "gard_id": "GARD:0013591", + "name": "Orthostatic intolerance due to NET deficiency", + "synonyms": [ + "Familial orthostatic tachycardia due to norepinephrine transporter deficiency", + "Postural tachycardia syndrome due to NET deficiency", + "Postural orthostatic tachycardia syndrome due to NET deficiency", + "POTS due to NET deficiency" + ] + }, + { + "gard_id": "GARD:0013592", + "name": "Severe congenital neutropenia", + "synonyms": null + }, + { + "gard_id": "GARD:0013593", + "name": "Rosette-Forming Glioneuronal Tumor", + "synonyms": [ + "RGNT" + ] + }, + { + "gard_id": "GARD:0013594", + "name": "Brain dopamine-serotonin vesicular transport disease", + "synonyms": null + }, + { + "gard_id": "GARD:0013606", + "name": "Subcorneal pustular dermatosis", + "synonyms": [ + "Sneddon-Wilkinson disease", + "Pustulosis subcornealis", + "Subcorneal pustular dermatitis", + "Sneddon Wilkinson disease" + ] + }, + { + "gard_id": "GARD:0013608", + "name": "Neurodevelopmental disorder with severe motor impairment and absent language", + "synonyms": [ + "NEDMIAL", + "DHX30-Related neurodevelopmental disorder", + "DHX30-Related disorder" + ] + }, + { + "gard_id": "GARD:0013613", + "name": "Pneumonia caused by Pseudomonas aeruginosa infection", + "synonyms": null + }, + { + "gard_id": "GARD:0013617", + "name": "Diaphragmatic flutter", + "synonyms": null + }, + { + "gard_id": "GARD:0013621", + "name": "CAD-CDG", + "synonyms": [ + "CDG syndrome type Iz", + "Congenital disorder of glycosylation type Iz", + "CDG-Iz", + "Carbohydrate deficient glycoprotein syndrome type Iz", + "Early infantile epileptic encephalopathy-50", + "CDG1Z", + "Congenital disorder of glycosylation type 1z" + ] + }, + { + "gard_id": "GARD:0013624", + "name": "Anaplastic pleomorphic xanthoastrocytoma", + "synonyms": null + }, + { + "gard_id": "GARD:0013629", + "name": "Drug reaction with eosinophilia and systemic symptoms", + "synonyms": [ + "DRESS syndrome", + "Drug reaction eosinophilic systemic syndrome", + "Drug rash with eosinophilia and systemic symptoms" + ] + }, + { + "gard_id": "GARD:0013636", + "name": "Smith-Kingsmore syndrome", + "synonyms": [ + "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", + "MINDS syndrome", + "Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism" + ] + }, + { + "gard_id": "GARD:0013638", + "name": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability", + "synonyms": [ + "Female-restricted X-linked syndromic intellectual disability-99", + "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females" + ] + }, + { + "gard_id": "GARD:0013639", + "name": "Classic galactosemia", + "synonyms": [ + "GALT deficiency", + "Galactose-1-phosphate uridyltranferase deficiency", + "Galactose-1-phosphate uridyl transferase deficiency", + "Galactose-1-phosphate uridyl-transferase deficiency disease", + "Galactosemia, classic", + "Galactose-1-phosphate uridyltransferase deficiency", + "Galactosemia type 1" + ] + }, + { + "gard_id": "GARD:0013640", + "name": "Remitting seronegative symmetrical synovitis with pitting edema", + "synonyms": [ + "RS3PE" + ] + }, + { + "gard_id": "GARD:0013641", + "name": "Familial cerebral cavernous malformation", + "synonyms": [ + "Familial brain cavernous angioma", + "Familial cerebral cavernoma", + "Familial brain cavernous hemangioma", + "Hereditary brain cavernous hemangioma", + "Hereditary brain cavernous angioma", + "Hereditary cerebral cavernoma", + "Hereditary cerebral cavernous malformation" + ] + }, + { + "gard_id": "GARD:0013643", + "name": "Mitochondrial DNA depletion syndrome", + "synonyms": [ + "mtDNA depletion syndrome" + ] + }, + { + "gard_id": "GARD:0013644", + "name": "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency", + "synonyms": [ + "Deoxyguanosine Kinase Deficiency", + "DGUOK Deficiency", + "DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form", + "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" + ] + }, + { + "gard_id": "GARD:0013647", + "name": "Facial infiltrating lipomatosis", + "synonyms": [ + "Congenital infiltrating lipomatosis of the face" + ] + }, + { + "gard_id": "GARD:0013654", + "name": "Generalized lipodystrophy-associated progeroid syndrome", + "synonyms": [ + "Generalized progeroid lipodystrophy due to LMNA T10I mutation" + ] + }, + { + "gard_id": "GARD:0013655", + "name": "Orofaciodigital syndrome 14", + "synonyms": [ + "Microcephaly-cerebral malformation-orofaciodigital syndrome", + "Oral-facial-digital syndrome type 14", + "OFD14", + "Orofaciodigital syndrome type 14" + ] + }, + { + "gard_id": "GARD:0013658", + "name": "Childhood-onset neurodegeneration with brain atrophy", + "synonyms": [ + "CONDBA", + "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" + ] + }, + { + "gard_id": "GARD:0013659", + "name": "Hepatitis D", + "synonyms": [ + "Delta hepatitis" + ] + }, + { + "gard_id": "GARD:0013661", + "name": "SEPN1-related myopathy", + "synonyms": null + }, + { + "gard_id": "GARD:0013663", + "name": "Familial sick sinus syndrome", + "synonyms": [ + "Familial sinus node dysfunction" + ] + }, + { + "gard_id": "GARD:0013666", + "name": "IRF2BPL-related disorders", + "synonyms": [ + "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", + "NEDAMSS" + ] + }, + { + "gard_id": "GARD:0013671", + "name": "DYT-KMT2B", + "synonyms": [ + "KMT2B-Related Dystonia", + "Dystonia-28", + "DYT28", + "Childhood-onset dystonia-28" + ] + }, + { + "gard_id": "GARD:0013676", + "name": "Early infantile epileptic encephalopathy 18", + "synonyms": null + }, + { + "gard_id": "GARD:0013680", + "name": "Stankiewicz-Isidor syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013681", + "name": "Early infantile epileptic encephalopathy-64", + "synonyms": [ + "RHOBTB2-related developmental and epileptic encephalopathy", + "RHOBTB2 missense variants" + ] + }, + { + "gard_id": "GARD:0013683", + "name": "TBC1D24-Related Disorders", + "synonyms": null + }, + { + "gard_id": "GARD:0013684", + "name": "8p inverted duplication/deletion syndrome", + "synonyms": [ + "8p inverted duplication and deletion", + "Inverted 8p duplication/deletion syndrome", + "Invdupdel(8p)" + ] + }, + { + "gard_id": "GARD:0013686", + "name": "GRIN1-associated disorders", + "synonyms": [ + "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant", + "NDHMSD", + "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive", + "NDHMSR", + "GRIN1-Related Neurodevelopmental Disorder", + "GRIN1-Related Developmental and Epileptic Encephalopathy" + ] + }, + { + "gard_id": "GARD:0013701", + "name": "Primary cutaneous follicle center lymphoma", + "synonyms": [ + "Crosti's Disease", + "Cutaneous follicle center lymphoma", + "Cutaneous follicle centre lymphoma", + "PCFCL" + ] + }, + { + "gard_id": "GARD:0013702", + "name": "Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease", + "synonyms": [ + "Hepatocyte nuclear factor 1 beta–associated disease", + "Renal cysts and diabetes" + ] + }, + { + "gard_id": "GARD:0013708", + "name": "Warsaw breakage syndrome", + "synonyms": null + }, + { + "gard_id": "GARD:0013712", + "name": "Combined immunodeficiency due to partial RAG1 deficiency", + "synonyms": [ + "CID due to partial RAG1 deficiency", + "CID with expansion of gamma delta T cells", + "Combined immunodeficiency with expansion of gamma delta T cells", + "Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity" + ] + }, + { + "gard_id": "GARD:0013731", + "name": "T-cell prolymphocytic leukemia", + "synonyms": [ + "T Cell Prolymphocytic Leukemia" + ] + }, + { + "gard_id": "GARD:0013735", + "name": "Spastic paraplegia 47", + "synonyms": null + }, + { + "gard_id": "GARD:0013737", + "name": "AP-4-Associated Hereditary Spastic Paraplegia", + "synonyms": [ + "Severe intellectual disability and progressive spastic paraplegia", + "AP4 deficiency syndrome", + "Adaptor Protein Complex 4 Deficiency", + "AP-4 Deficiency", + "AP-4-Associated HSP", + "AP-4 Deficiency Syndrome" + ] + }, + { + "gard_id": "GARD:0013743", + "name": "Multicentric osteolysis, nodulosis and arthropathy", + "synonyms": [ + "Torg-Winchester Syndrome", + "Torg Syndrome", + "Nodulosis-Arthropathy-Osteolysis Syndrome,", + "MONA syndrome" + ] + }, + { + "gard_id": "GARD:0013818", + "name": "Sphingosine phosphate lyase insufficiency syndrome", + "synonyms": [ + "SPL insufficiency syndrome", + "SPLIS", + "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency", + "Primary adrenal insufficiency-steroid-resistant nephrotic syndrome", + "Nephrotic syndrome type 14", + "Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency", + "SGPL1 disorder" + ] + } +] \ No newline at end of file