[ { "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" ] } ]