TaoMedAI/RareMedData huggingface dataset:
ORPHA:93446: Primary osteodysplasia with decreased bone density
ORPHA:93446: Primary skeletal dysplasia with decreased bone density
ORPHA:93447: Primary bone dysplasia with defective bone mineralization
ORPHA:93447: Primary osteodysplasia with defective bone mineralization
ORPHA:93447: Primary skeletal dysplasia with defective bone mineralization
ORPHA:93448: Lysosomal storage disease with skeletal involvement
ORPHA:93448: Dysostosis multiplex
ORPHA:93449: Primary osteolysis
ORPHA:93450: Primary bone dysplasia with disorganized development of skeletal components
ORPHA:93450: Primary osteodysplasia with disorganized development of skeletal components
ORPHA:93450: Primary skeletal dysplasia with disorganized development of skeletal components
ORPHA:93451: Cleidocranial dysplasia and isolated cranial ossification defect
ORPHA:93453: Dysostosis with predominant craniofacial involvement
ORPHA:93454: Dysostosis with predominant vertebral and costal involvement
ORPHA:93455: Patellar dysostosis
ORPHA:93457: Non-syndromic limb reduction defect
ORPHA:93457: Non-syndromic limb hypoplasia
ORPHA:93458: Non-syndromic polydactyly, syndactyly and/or hyperphalangy
ORPHA:93459: Syndrome with synostosis or other joint formation defect
ORPHA:93460: Overgrowth syndrome
ORPHA:93461: Chromosomal disease with overgrowth
ORPHA:93465: Lethal chondrodysplasia
ORPHA:93473: Hurler syndrome
ORPHA:93473: Hurler disease
ORPHA:93473: MPS1H
ORPHA:93473: MPSIH
ORPHA:93473: Mucopolysaccharidosis type 1H
ORPHA:93473: Mucopolysaccharidosis type IH
ORPHA:93474: Scheie syndrome
ORPHA:93474: MPS1S
ORPHA:93474: MPSIS
ORPHA:93474: Mucopolysaccharidosis type 1S
ORPHA:93474: Mucopolysaccharidosis type IS
ORPHA:93476: Hurler-Scheie syndrome
ORPHA:93476: MPS1H/S
ORPHA:93476: MPSIH/S
ORPHA:93476: Mucopolysaccharidosis type 1H/S
ORPHA:93476: Mucopolysaccharidosis type IH/S
ORPHA:935: Short-limb skeletal dysplasia with severe combined immunodeficiency
ORPHA:935: Achondroplasia-SCID syndrome
ORPHA:935: Achondroplasia-Swiss type agammaglobulinemia syndrome
ORPHA:935: Achondroplasia-severe combined immunodeficiency syndrome
ORPHA:935: Immunodeficiency-short limb dwarfism syndrome
ORPHA:935: Short limb skeletal dysplasia with SCID
ORPHA:93545: Renal or urinary tract malformation
ORPHA:93545: CAKUT
ORPHA:93545: Congenital anomalies of kidney and urinary tract
ORPHA:93546: Non-syndromic renal or urinary tract malformation
ORPHA:93547: Syndromic renal or urinary tract malformation
ORPHA:93548: Glomerular disease
ORPHA:93552: Pediatric systemic lupus erythematosus
ORPHA:93552: SLE, pediatric onset
ORPHA:93554: Mixed cryoglobulinemia type II
ORPHA:93554: MC type II
ORPHA:93555: Mixed cryoglobulinemia type III
ORPHA:93555: MC type III
ORPHA:93556: Heavy chain deposition disease
ORPHA:93556: HCDD
ORPHA:93557: Light and heavy chain deposition disease
ORPHA:93557: LHCDD
ORPHA:93558: Light chain deposition disease
ORPHA:93558: LCDD
ORPHA:93560: AApoAI amyloidosis
ORPHA:93560: Apolipoprotein A-I amyloidosis
ORPHA:93560: Familial amyloid nephropathy due to apolipoprotein A-I variant
ORPHA:93560: Familial renal amyloidosis due to apolipoprotein A-I variant
ORPHA:93560: Hereditary amyloid nephropathy due to apolipoprotein A-I variant
ORPHA:93560: Hereditary renal amyloidosis due to apolipoprotein A-I variant
ORPHA:93561: ALys amyloidosis
ORPHA:93561: Familial amyloid nephropathy due to lysozyme variant
ORPHA:93561: Familial renal amyloidosis due to lysozyme variant
ORPHA:93561: Hereditary amyloid nephropathy due to lysozyme variant
ORPHA:93561: Hereditary renal amyloidosis due to lysozyme variant
ORPHA:93561: Lysozyme amyloidosis
ORPHA:93562: AFib amyloidosis
ORPHA:93562: Familial amyloid nephropathy due to fibrinogen A alpha-chain variant
ORPHA:93562: Fibrinogen A alpha-chain amyloidosis
ORPHA:93562: Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant
ORPHA:93562: Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
ORPHA:93568: Juvenile polymyositis
ORPHA:93568: Juvenile PM
ORPHA:93571: Dense deposit disease
ORPHA:93571: Membranoproliferative glomerulonephritis type 2
ORPHA:93573: Thrombotic microangiopathy
ORPHA:93573: TMA
ORPHA:93581: Atypical hemolytic uremic syndrome with anti-factor H antibodies
ORPHA:93581: Atypical HUS with anti-factor H antibodies
ORPHA:93581: aHUS with anti-factor H antibodies
ORPHA:93581: aHUS with neutralizing autoantibodies against factor H
ORPHA:93583: Congenital thrombotic thrombocytopenic purpura
ORPHA:93583: Congenital ADAMTS-13 deficiency
ORPHA:93583: Congenital TTP
ORPHA:93583: Familial TTP
ORPHA:93583: Upshaw-Schulman syndrome
ORPHA:93585: Immune-mediated thrombotic thrombocytopenic purpura
ORPHA:93585: Acquired TTP
ORPHA:93585: Acquired thrombotic thrombocytopenic purpura
ORPHA:93585: Autoimmune thrombotic thrombocytopenic purpura
ORPHA:93585: Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies
ORPHA:93585: aTTP
ORPHA:93585: iTTP
ORPHA:93587: Genetic cystic renal disease
ORPHA:93587: Hereditary cystic renal disease
ORPHA:93589: Late-onset nephronophthisis
ORPHA:93591: Infantile nephronophthisis
ORPHA:93591: Autosomal recessive infantile NPHP
ORPHA:93591: Autosomal recessive infantile nephronophthisis
ORPHA:93592: Juvenile nephronophthisis
ORPHA:93593: Nephropathy secondary to a storage or other metabolic disease
ORPHA:93598: Primary hyperoxaluria type 1
ORPHA:93598: Glycolic aciduria
ORPHA:93598: Peroxisomal alanine-glyoxylate aminotransferase deficiency
ORPHA:93599: Primary hyperoxaluria type 2
ORPHA:93599: D-glycerate dehydrogenase deficiency
ORPHA:93599: L-glyceric aciduria
ORPHA:93600: Primary hyperoxaluria type 3
ORPHA:93601: Xanthinuria type I
ORPHA:93601: XDH deficiency
ORPHA:93601: XO deficiency
ORPHA:93601: XOR deficiency
ORPHA:93601: Xanthine dehydrogenase deficiency
ORPHA:93601: Xanthine oxidase deficiency
ORPHA:93601: Xanthine oxidoreductase deficiency
ORPHA:93602: Xanthinuria type II
ORPHA:93602: XDH and AOX dual deficiency
ORPHA:93602: Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
ORPHA:93603: Rare renal tubular disease
ORPHA:93605: Bartter syndrome type 3
ORPHA:93605: Bartter syndrome type III
ORPHA:93606: Nephrogenic syndrome of inappropriate antidiuresis
ORPHA:93606: NSIAD
ORPHA:93607: Autosomal recessive proximal renal tubular acidosis
ORPHA:93607: AR pRTA
ORPHA:93607: Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
ORPHA:93608: Autosomal dominant distal renal tubular acidosis
ORPHA:93608: AD dRTA
ORPHA:93610: Distal renal tubular acidosis with anemia
ORPHA:93610: dRTA with anemia
ORPHA:93612: Cystinuria type A
ORPHA:93613: Cystinuria type B
ORPHA:93614: Hematological disorder with renal involvement
ORPHA:93616: Hemoglobin H disease
ORPHA:93616: Alpha-thalassemia intermedia
ORPHA:93616: HbH disease
ORPHA:93618: Rare cause of hypertension
ORPHA:93619: Rare renal tumor
ORPHA:93622: Dent disease type 1
ORPHA:93623: Dent disease type 2
ORPHA:93626: Rare renal disease
ORPHA:93665: Autoinflammatory syndrome
ORPHA:93672: Juvenile dermatomyositis
ORPHA:93672: Juvenile DM
ORPHA:93685: Unicentric Castleman disease
ORPHA:93685: Localized Castleman disease
ORPHA:93890: Rare developmental defect during embryogenesis
ORPHA:93890: Malformation syndrome
ORPHA:939: 3-hydroxyisobutyric aciduria
ORPHA:93921: Full schwannomatosis
ORPHA:93921: Full NF3
ORPHA:93921: Full SWN
ORPHA:93921: Full neurofibromatosis type 3
ORPHA:93921: Neurilemmomatosis
ORPHA:93921: Nonmosaic schwannomatosis
ORPHA:93924: Lobar holoprosencephaly
ORPHA:93925: Alobar holoprosencephaly
ORPHA:93926: Midline interhemispheric variant of holoprosencephaly
ORPHA:93926: MIH
ORPHA:93926: MIH type HPE
ORPHA:93926: MIHF
ORPHA:93926: MIHV
ORPHA:93926: Middle interhemispheric fusion variant
ORPHA:93926: Middle interhemispheric variant of holoprosencephaly
ORPHA:93926: Syntelencephaly
ORPHA:93928: Isolated epispadias
ORPHA:93929: Cloacal exstrophy
ORPHA:93929: OEIS complex
ORPHA:93929: Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
ORPHA:93930: Bladder exstrophy
ORPHA:93930: Classic exstrophy of the bladder
ORPHA:93932: FG syndrome type 1
ORPHA:93932: Opitz-Kaveggia syndrome
ORPHA:93938: Laryngotracheoesophageal cleft type 1
ORPHA:93938: LTEC I
ORPHA:93938: LTEC1
ORPHA:93938: Laryngo-tracheo-esophageal cleft type 1
ORPHA:93939: Laryngotracheoesophageal cleft type 2
ORPHA:93939: LTEC II
ORPHA:93939: LTEC2
ORPHA:93939: Laryngo-tracheo-esophageal cleft type 2
ORPHA:93940: Laryngotracheoesophageal cleft type 3
ORPHA:93940: LTEC III
ORPHA:93940: LTEC3
ORPHA:93940: Laryngo-tracheo-esophageal cleft type 3
ORPHA:93941: Laryngotracheoesophageal cleft type 4
ORPHA:93941: LTEC IV
ORPHA:93941: LTEC4
ORPHA:93941: Laryngo-tracheo-esophageal cleft type 4
ORPHA:93945: X-linked intellectual disability, Porteous type
ORPHA:93946: Hamel cerebro-palato-cardiac syndrome
ORPHA:93947: X-linked intellectual disability, Golabi-Ito-Hall type
ORPHA:93950: X-linked intellectual disability, Sutherland-Haan type
ORPHA:93952: X-linked intellectual disability, Hedera type
ORPHA:93952: MRXSH
ORPHA:93953: Familial thyroglossal duct cyst
ORPHA:93958: Oromandibular dystonia
ORPHA:93964: Blepharospasm-oromandibular dystonia syndrome
ORPHA:93964: Meige dystonia
ORPHA:93964: Meige syndrome
ORPHA:93969: Open spinal dysraphism with a myelomeningocele
ORPHA:93969: MMC
ORPHA:93969: Myelomeningocele
ORPHA:93976: Anotia
ORPHA:94: Astrocytoma
ORPHA:94: Astrocytic tumor
ORPHA:94056: Isolated humero-ulnar synostosis
ORPHA:94056: Isolated congenital humeroulnar fusion
ORPHA:94058: Neovascular glaucoma
ORPHA:94059: Uremic pruritus
ORPHA:94063: 12q14 microdeletion syndrome
ORPHA:94063: Del(12)(q14)
ORPHA:94063: Deletion 12q14
ORPHA:94063: Monosomy 12q14
ORPHA:94063: Osteopoikilosis-short stature-intellectual disability syndrome
ORPHA:94064: Deafness-infertility syndrome
ORPHA:94064: DIS
ORPHA:94064: Hearing loss-infertility syndrome
ORPHA:94065: 15q24 microdeletion syndrome
ORPHA:94065: Del(15)(q24)
ORPHA:94065: Monosomy 15q24
ORPHA:94066: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
ORPHA:94068: Spondyloepiphyseal dysplasia congenita
ORPHA:94068: Congenital spondyloepiphyseal dysplasia
ORPHA:94068: SEDC
ORPHA:94068: Spranger-Wiedemann disease
ORPHA:94075: Severe immune-mediated enteropathy
ORPHA:94075: Autoimmune enteropathy
ORPHA:94075: Immune-mediated protracted diarrhea of infancy
ORPHA:94080: Non-functioning paraganglioma
ORPHA:94080: Non-secreting paraganglioma
ORPHA:94083: Partington syndrome
ORPHA:94083: Partington-Mulley syndrome
ORPHA:94083: X-linked intellectual disability-dystonia-dysarthria syndrome
ORPHA:94086: Blue diaper syndrome
ORPHA:94086: Drummond syndrome
ORPHA:94086: Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
ORPHA:94087: Cytophagic histiocytic panniculitis
ORPHA:94087: CHP
ORPHA:94087: Winkelmann cytophagic panniculitis
ORPHA:94088: Hereditary renal hypouricemia
ORPHA:94088: Familial renal hypouricemia
ORPHA:94089: Pseudohypoparathyroidism type 1B
ORPHA:94090: Pseudohypoparathyroidism type 2
ORPHA:94091: Mills syndrome
ORPHA:94093: Neuroleptic malignant syndrome
ORPHA:941: D-glyceric aciduria
ORPHA:941: D-glycerate kinase deficiency
ORPHA:941: D-glyceric acidemia
ORPHA:94122: Cerebellar ataxia, Cayman type
ORPHA:94122: Cayman ataxia
ORPHA:94124: Spinocerebellar ataxia with axonal neuropathy type 1
ORPHA:94124: SCAN1
ORPHA:94125: Recessive mitochondrial ataxia syndrome
ORPHA:94125: MIRAS
ORPHA:94145: Autosomal dominant cerebellar ataxia type I
ORPHA:94145: ADCA1
ORPHA:94145: ADCAI
ORPHA:94145: Autosomal dominant cerebellar ataxia type 1
ORPHA:94145: Cerebellar plus syndrome
ORPHA:94147: Spinocerebellar ataxia type 7
ORPHA:94147: Ataxia with pigmentary retinopathy
ORPHA:94147: Cerebellar syndrome-pigmentary maculopathy syndrome
ORPHA:94147: SCA7
ORPHA:94148: Autosomal dominant cerebellar ataxia type III
ORPHA:94148: ADCA3
ORPHA:94148: ADCAIII
ORPHA:94148: Autosomal dominant cerebellar ataxia type 3
ORPHA:94148: Pure cerebellar syndrome-mild pyramidal signs syndrome
ORPHA:94149: Autosomal dominant cerebellar ataxia type IV
ORPHA:94149: ADCA4
ORPHA:94149: ADCAIV
ORPHA:94149: Autosomal dominant cerebellar ataxia type 4
ORPHA:94150: Anonychia congenita totalis
ORPHA:943: Malonic aciduria
ORPHA:943: Deficiency of malonyl-CoA decarboxylase
ORPHA:943: MLYCD deficiency
ORPHA:943: Malonic acidemia
ORPHA:943: Malonyl-CoA decarboxylase deficiency
ORPHA:945: Acalvaria
ORPHA:945: Primary acalvaria
ORPHA:949: Acrocraniofacial dysostosis
ORPHA:949: Kaplan-Plauchu-Fitch syndrome
ORPHA:95: Friedreich ataxia
ORPHA:95: FA
ORPHA:95: FRDA
ORPHA:950: Acrodysostosis
ORPHA:950: Acrodysostosis with or without multiple hormonal resistance
ORPHA:950: Acrodysplasia
ORPHA:950: Arkless-Graham syndrome
ORPHA:950: Maroteaux-Malamut syndrome
ORPHA:95157: Acute hepatic porphyria
ORPHA:95159: Hepatoerythropoietic porphyria
ORPHA:95159: HEP
ORPHA:952: Acrofacial dysostosis, Weyers type
ORPHA:952: Curry-Hall syndrome
ORPHA:952: Weyers acrodental dysostosis
ORPHA:952: Weyers acrofacial dysostosis
ORPHA:95232: Lissencephaly due to LIS1 mutation
ORPHA:95232: PAFAH1B1-related lissencephaly
ORPHA:95409: Acute adrenal insufficiency
ORPHA:95409: Acute adrenal failure
ORPHA:95409: Acute adrenocortical insufficiency
ORPHA:95409: Addisonian crisis
ORPHA:95409: Adrenal crisis
ORPHA:95409: Adrenocortical crisis
ORPHA:95427: Secondary short bowel syndrome
ORPHA:95428: COG8-CDG
ORPHA:95428: CDG syndrome type IIh
ORPHA:95428: CDG-IIh
ORPHA:95428: CDG2H
ORPHA:95428: Carbohydrate deficient glycoprotein syndrome type IIh
ORPHA:95428: Congenital disorder of glycosylation type 2h
ORPHA:95428: Congenital disorder of glycosylation type IIh
ORPHA:95429: Angioma serpiginosum
ORPHA:95430: Congenital tracheomalacia
ORPHA:95430: Congenital major airway collapse
ORPHA:95431: Twin to twin transfusion syndrome
ORPHA:95431: Feto-fetal transfusion syndrome
ORPHA:95432: Primary progressive aphasia
ORPHA:95432: Mesulam syndrome
ORPHA:95432: PPA
ORPHA:95433: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
ORPHA:95433: Autosomal recessive spinocerebellar ataxia type 3
ORPHA:95433: Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
ORPHA:95433: SCABD
ORPHA:95433: SCAR3
ORPHA:95434: Autosomal recessive cerebellar ataxia-movement disorder syndrome
ORPHA:95434: SCAR4
ORPHA:95434: SCASI
ORPHA:95443: Mesocardia
ORPHA:95443: Midline heart
ORPHA:95448: Congenital aortic valve atresia
ORPHA:95455: Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
ORPHA:95455: Epidermal necrolysis
ORPHA:95455: SJS-TEN
ORPHA:95457: Tricuspid valve agenesis
ORPHA:95457: Congenital unguarded tricuspid orifice
ORPHA:95459: Congenital tricuspid stenosis
ORPHA:95461: Straddling or overriding tricuspid valve
ORPHA:95462: Accessory tricuspid valve tissue
ORPHA:95463: Anomaly of the tricuspid subvalvular apparatus
ORPHA:95464: Congenital mitral valve insufficiency and/or stenosis
ORPHA:95465: Cleft mitral valve
ORPHA:95474: Double-orifice mitral valve
ORPHA:95483: Univentricular cardiopathy
ORPHA:95485: Arterial duct anomaly
ORPHA:95485: Patent ductus arteriosus anomalies
ORPHA:95486: Premature closure of the arterial duct
ORPHA:95486: Premature closure of the patent ductus arteriosus
ORPHA:95488: Non-acquired pituitary hormone deficiency
ORPHA:95491: Congenital coronary artery aneurysm
ORPHA:95491: Congenital coronary aneurysm
ORPHA:95494: Combined pituitary hormone deficiencies, genetic forms
ORPHA:95494: Familial congenital hypopituitarism
ORPHA:95494: Multiple pituitary hormone deficiencies, genetic forms
ORPHA:95495: Disease associated with non-acquired combined pituitary hormone deficiency
ORPHA:95496: Pituitary stalk interruption syndrome
ORPHA:95496: Ectopic neurohypophysis
ORPHA:95496: PSIS
ORPHA:95498: Congenital anomaly of superior vena cava
ORPHA:95498: Congenital anomaly of superior caval vein
ORPHA:95498: Congenital anomaly of the SVC
ORPHA:95499: Congenital anomaly of the inferior vena cava
ORPHA:95499: Congenital anomaly of the IVC
ORPHA:95499: Congenital anomaly of the inferior caval vein
ORPHA:955: Hajdu-Cheney syndrome
ORPHA:955: Acroosteolysis dominant type
ORPHA:955: Acroosteolysis with osteoporosis and changes in skull and mandible
ORPHA:955: Arthrodentoosteodysplasia
ORPHA:955: Cheney syndrome
ORPHA:95500: Congenital anomaly of the coronary sinus
ORPHA:95502: Acquired pituitary hormone deficiency
ORPHA:95503: Pituitary hormone deficiency of tumoral origin
ORPHA:95505: Pituitary hormone deficiency of meningeal origin
ORPHA:95506: Primary hypophysitis
ORPHA:95506: Autoimmune hypophysitis
ORPHA:95507: Congenital anomaly of hepatic vein
ORPHA:95510: Atrial appendage anomaly
ORPHA:95510: Atrial auricle anomaly
ORPHA:95512: Adenohypophysitis
ORPHA:95512: Anterior pituitary hypophysitis
ORPHA:95513: Panhypophysitis
ORPHA:95513: Infundibulo-panhypophysitis
ORPHA:95611: Pituitary hormone deficiency of vascular origin
ORPHA:95613: Pituitary apoplexy
ORPHA:95613: Pituitary tumor apoplexy
ORPHA:95617: Pituitary hormone deficiency secondary to a granulomatous disease
ORPHA:95618: Pituitary hormone deficiency secondary to storage disease
ORPHA:95619: Post-traumatic pituitary deficiency
ORPHA:95626: Acquired arginine vasopressin deficiency
ORPHA:95626: Acquired CDI
ORPHA:95626: Acquired neurogenic diabetes insipidus
ORPHA:95699: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
ORPHA:95699: Congenital adrenal hyperplasia due to cytochrome POR deficiency
ORPHA:95699: POR deficiency
ORPHA:95699: PORD
ORPHA:957: Acropectorovertebral dysplasia
ORPHA:957: F syndrome
ORPHA:95700: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
ORPHA:95700: Familial adrenal hypoplasia with absent pituitary LH
ORPHA:95700: Familial adrenal hypoplasia, miniature type
ORPHA:95702: X-linked adrenal hypoplasia congenita
ORPHA:95702: X-linked AHC
ORPHA:95702: X-linked congenital adrenal hypoplasia
ORPHA:95706: Non-syndromic posterior hypospadias
ORPHA:95706: Hypospadias, severe form
ORPHA:95706: Perineal, scrotal or penoscrotal hypospadias
ORPHA:95707: Idiopathic isolated micropenis
ORPHA:95708: Rare precocious puberty
ORPHA:95709: Rare acquired premature ovarian failure
ORPHA:95710: Rare non-acquired premature ovarian failure
ORPHA:95711: Congenital hypothyroidism due to developmental anomaly
ORPHA:95711: Primary congenital hypothyroidism due to developmental anomaly
ORPHA:95712: Thyroid ectopia
ORPHA:95713: Athyreosis
ORPHA:95714: Primary congenital hypothyroidism without thyroid developmental anomaly
ORPHA:95715: Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
ORPHA:95716: Familial thyroid dyshormonogenesis
ORPHA:95716: Thyroid dyshormonogenesis
ORPHA:95717: Idiopathic congenital hypothyroidism
ORPHA:95718: Congenital thyroid malformation without hypothyroidism
ORPHA:95719: Thyroid hemiagenesis
ORPHA:95720: Thyroid hypoplasia
ORPHA:958: Acro-renal-mandibular syndrome
ORPHA:958: Split hand/split foot-mandibular hypoplasia syndrome
ORPHA:95854: Levocardia
ORPHA:95854: Isolated levocardia
ORPHA:95854: Levocardia with situs inversus
ORPHA:959: Acro-renal-ocular syndrome
ORPHA:96: Ataxia with vitamin E deficiency
ORPHA:96: AVED
ORPHA:96: Ataxia with isolated vitamin E deficiency
ORPHA:96: Familial isolated vitamin E deficiency
ORPHA:96: Friedreich-like ataxia
ORPHA:96: Isolated vitamin E deficiency
ORPHA:96055: Tetrasomy 21 syndrome
ORPHA:96055: Isochromosome 21
ORPHA:96059: Mosaic trisomy 4 syndrome
ORPHA:96059: Mosaic trisomy chromosome 4
ORPHA:96059: Trisomy 4 mosaicism
ORPHA:96060: Mosaic trisomy 5 syndrome
ORPHA:96060: Mosaic trisomy chromosome 5
ORPHA:96060: Trisomy 5 mosaicism
ORPHA:96061: Mosaic trisomy 8 syndrome
ORPHA:96061: Mosaic trisomy chromosome 8
ORPHA:96061: Trisomy 8 mosaicism
ORPHA:96061: Warkany syndrome
ORPHA:96063: Mosaic trisomy 10 syndrome
ORPHA:96063: Mosaic trisomy chromosome 10
ORPHA:96063: Trisomy 10 mosaicism
ORPHA:96068: Mosaic trisomy 22 syndrome
ORPHA:96068: Mosaic trisomy chromosome 22
ORPHA:96068: Trisomy 22 mosaicism
ORPHA:96069: Distal duplication 1p36 syndrome
ORPHA:96069: Distal trisomy 1p36
ORPHA:96069: Telomeric duplication 1p36
ORPHA:96069: Trisomy 1pter
ORPHA:96070: Distal duplication 2p syndrome
ORPHA:96070: Distal trisomy 2p
ORPHA:96070: Telomeric duplication 2p
ORPHA:96070: Trisomy 2pter
ORPHA:96071: Distal duplication 3p syndrome
ORPHA:96071: Distal trisomy 3p
ORPHA:96071: Telomeric duplication 3p
ORPHA:96071: Trisomy 3pter
ORPHA:96072: 4p16.3 microduplication syndrome
ORPHA:96072: Distal duplication 4p
ORPHA:96072: Distal trisomy 4p
ORPHA:96072: Telomeric duplication 4p
ORPHA:96072: Trisomy 4pter
ORPHA:96074: Distal duplication 7p syndrome
ORPHA:96074: Distal trisomy 7p
ORPHA:96074: Telomeric duplication 7p
ORPHA:96074: Trisomy 7pter
ORPHA:96076: Beckwith-Wiedemann syndrome due to 11p15 microduplication
ORPHA:96078: 16p13.3 microduplication syndrome
ORPHA:96078: Distal duplication 16p
ORPHA:96078: Distal trisomy 16p
ORPHA:96078: Dup(16)(p13.3)
ORPHA:96078: Telomeric duplication 16p
ORPHA:96078: Trisomy 16pter
ORPHA:96092: 8p inverted duplication/deletion syndrome
ORPHA:96092: Invdupdel(8p)
ORPHA:96092: Inverted 8p duplication/deletion syndrome
ORPHA:96094: Distal duplication 2q syndrome
ORPHA:96094: Distal trisomy 2q
ORPHA:96094: Telomeric duplication 2q
ORPHA:96094: Trisomy 2qter
ORPHA:96095: 3q26 microduplication syndrome
ORPHA:96095: Dup(3)(q26)
ORPHA:96095: Dup(3q) syndrome
ORPHA:96095: Trisomy 3q26
ORPHA:96096: Distal duplication 4q syndrome
ORPHA:96096: Distal trisomy 4q
ORPHA:96096: Telomeric duplication 4q
ORPHA:96096: Trisomy 4qter
ORPHA:96097: Distal duplication 5q syndrome
ORPHA:96097: Distal trisomy 5q
ORPHA:96097: Telomeric duplication 5q
ORPHA:96097: Trisomy 5qter
ORPHA:96098: Distal duplication 6q syndrome
ORPHA:96098: Distal trisomy 6q
ORPHA:96098: Telomeric duplication 6q
ORPHA:96098: Trisomy 6qter
ORPHA:96100: Distal duplication 8q syndrome
ORPHA:96100: Distal trisomy 8q
ORPHA:96100: Telomeric duplication 8q
ORPHA:96100: Trisomy 8qter
ORPHA:96101: Distal duplication 9q syndrome
ORPHA:96101: Distal trisomy 9q
ORPHA:96101: Telomeric duplication 9q
ORPHA:96101: Trisomy 9qter
ORPHA:96102: Distal duplication 10q syndrome
ORPHA:96102: Distal trisomy 10q
ORPHA:96102: Telomeric duplication 10q
ORPHA:96102: Trisomy 10qter
ORPHA:96103: Distal duplication 11q syndrome
ORPHA:96103: Distal trisomy 11q
ORPHA:96103: Telomeric duplication 11q
ORPHA:96103: Trisomy 11qter
ORPHA:96105: Distal duplication 13q syndrome
ORPHA:96105: Distal trisomy 13q
ORPHA:96105: Telomeric duplication 13q
ORPHA:96105: Trisomy 13qter
ORPHA:96106: Distal duplication 16q syndrome
ORPHA:96106: Distal trisomy 16q
ORPHA:96106: Telomeric duplication 16q
ORPHA:96106: Trisomy 16qter
ORPHA:96107: Distal duplication 20q syndrome
ORPHA:96107: Distal trisomy 20q
ORPHA:96107: Telomeric duplication 20q
ORPHA:96107: Trisomy 20qter
ORPHA:96109: Distal duplication 22q syndrome
ORPHA:96109: Distal trisomy 22q
ORPHA:96109: Telomeric duplication 22q
ORPHA:96109: Trisomy 22qter
ORPHA:96112: Non-distal duplication 9q syndrome
ORPHA:96112: Non-distal trisomy 9q
ORPHA:96112: Non-telomeric trisomy 9q
ORPHA:96121: 7q11.23 microduplication syndrome
ORPHA:96121: Dup(7)(q11.23)
ORPHA:96121: Trisomy 7q11.23
ORPHA:96123: Monosomy 22 syndrome
ORPHA:96123: Del(22)
ORPHA:96123: Deletion 22
ORPHA:96125: Distal deletion 6p syndrome
ORPHA:96125: 6p subtelomeric deletion syndrome
ORPHA:96125: 6p25 microdeletion syndrome
ORPHA:96125: Distal deletion 6p25
ORPHA:96125: Monosomy 6p25
ORPHA:96125: Monosomy 6pter
ORPHA:96126: Distal deletion 7p syndrome
ORPHA:96126: Distal monosomy 7p
ORPHA:96126: Monosomy 7pter
ORPHA:96126: Telomeric deletion 7p
ORPHA:96129: Distal deletion 19p syndrome
ORPHA:96129: Distal deletion 19p13.3
ORPHA:96129: Distal monosomy 19p13.3
ORPHA:96129: Telomeric deletion 19p
ORPHA:96145: Distal deletion 4q syndrome
ORPHA:96145: Distal monosomy 4q
ORPHA:96145: Monosomy 4qter
ORPHA:96145: Telomeric deletion 4q
ORPHA:96147: Kleefstra syndrome due to 9q34 microdeletion
ORPHA:96147: 9q subtelomeric deletion syndrome
ORPHA:96147: 9qSTDS
ORPHA:96147: Kleefstra syndrome due to 9q subtelomeric deletion
ORPHA:96147: Kleefstra syndrome due to del(9)(q34)
ORPHA:96147: Kleefstra syndrome due to monosomy 9q34
ORPHA:96148: Distal deletion 10q syndrome
ORPHA:96148: Deletion 10qter
ORPHA:96148: Distal monosomy 10q