TaoMedAI/RareMedData huggingface dataset:
ORPHA:254519: Kagami-Ogata syndrome
ORPHA:254519: KOS
ORPHA:254525: Temple syndrome due to paternal 14q32.2 microdeletion
ORPHA:254525: Paternal del(14)(q32.2)
ORPHA:254528: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
ORPHA:254528: Maternal del(14)(q32.2)
ORPHA:254528: Maternal monosomy 14q32.2
ORPHA:254531: Temple syndrome due to paternal 14q32.2 hypomethylation
ORPHA:254534: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
ORPHA:254685: Gestational trophoblastic disease
ORPHA:254688: Complete hydatidiform mole
ORPHA:254688: Complete molar pregnancy
ORPHA:254693: Partial hydatidiform mole
ORPHA:254693: Incomplete hydatidiform mole
ORPHA:254693: Incomplete molar pregnancy
ORPHA:254693: Partial molar pregnancy
ORPHA:254698: Epithelioid trophoblastic tumor
ORPHA:2547: Microphthalmia-microtia-fetal akinesia syndrome
ORPHA:2547: Thomas-Jewett-Raines syndrome
ORPHA:254704: Genetic hyperferritinemia without iron overload
ORPHA:254704: Benign hyperferritinemia
ORPHA:254746: Pyruvate metabolism disorder
ORPHA:254749: Tricarboxylic acid cycle disorder
ORPHA:254749: Citric acid cycle disorder
ORPHA:254749: Krebs cycle disorder
ORPHA:254749: TCA cycle disorder
ORPHA:254758: Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
ORPHA:254758: Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies
ORPHA:254758: OXPHOS disease due to mitochondrial DNA anomalies
ORPHA:254758: OXPHOS disease due to mtDNA anomalies
ORPHA:254767: Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
ORPHA:254767: Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA
ORPHA:254767: OXPHOS disease due to a large-scale single deletion of mitochondrial DNA
ORPHA:254767: OXPHOS disease due to a large-scale single deletion of mtDNA
ORPHA:254776: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
ORPHA:254776: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA
ORPHA:254776: OXPHOS disease due to a point mutation of mitochondrial DNA
ORPHA:254776: OXPHOS disease due to a point mutation of mtDNA
ORPHA:254788: Mitochondrial DNA-related mitochondrial myopathy
ORPHA:254788: Maternally-inherited mitochondrial myopathy
ORPHA:254788: mtDNA-related mitochondrial myopathy
ORPHA:254803: Mitochondrial DNA depletion syndrome, encephalomyopathic form
ORPHA:254803: mtDNA depletion syndrome, encephalomyopathic form
ORPHA:254807: Multiple mitochondrial DNA deletion syndrome
ORPHA:254807: Multiple mtDNA deletion syndrome
ORPHA:254818: Ataxia neuropathy spectrum
ORPHA:254822: Mitochondrial oxidative phosphorylation disorder with no known mechanism
ORPHA:254822: OXPHOS disease with no known mechanism
ORPHA:254827: Mitochondrial membrane transport disorder
ORPHA:254830: Mitochondrial substrate carrier disorder
ORPHA:254834: Mitochondrial protein import disorder
ORPHA:254837: Unspecified mitochondrial disorder
ORPHA:254843: Exercise intolerance with lactic acidosis
ORPHA:254846: Isolated oxidative phosphorylation complex disorder
ORPHA:254846: Isolated respiratory chain complex disorder
ORPHA:254851: Mitochondrial DNA-related dystonia
ORPHA:254851: Maternally-inherited mitochondrial dystonia
ORPHA:254851: mtDNA-related dystonia
ORPHA:254854: Pure mitochondrial myopathy
ORPHA:254857: Lethal infantile mitochondrial myopathy
ORPHA:254857: LIMD
ORPHA:254857: LIMM
ORPHA:254857: Lethal infantile mitochondrial disease
ORPHA:254864: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
ORPHA:254864: Benign COX deficiency
ORPHA:254864: Infantile reversible cytochrome C oxidase deficiency myopathy
ORPHA:254864: Mitochondrial myopathy with reversible COX deficiency
ORPHA:254864: Mitochondrial myopathy with reversible complex IV deficiency
ORPHA:254864: Reversible infantile cytochrome C oxidase deficiency
ORPHA:254864: Reversible infantile respiratory chain deficiency
ORPHA:254871: Mitochondrial DNA depletion syndrome, hepatocerebral form
ORPHA:254871: Deoxyguanosine kinase deficiency
ORPHA:254871: mtDNA depletion syndrome, hepatocerebral form
ORPHA:254875: Mitochondrial DNA depletion syndrome, myopathic form
ORPHA:254875: mtDNA depletion syndrome, myopathic form
ORPHA:254881: Spinocerebellar ataxia with epilepsy
ORPHA:254881: MSCAE
ORPHA:254881: Mitochondrial spinocerebellar ataxia with epilepsy
ORPHA:254881: SCAE
ORPHA:254886: Autosomal recessive progressive external ophthalmoplegia
ORPHA:254886: arPEO
ORPHA:254892: Autosomal dominant progressive external ophthalmoplegia
ORPHA:254892: adPEO
ORPHA:254898: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
ORPHA:254898: Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
ORPHA:2549: Oculoauriculovertebral spectrum with radial defects
ORPHA:2549: Hemifacial microsomia-radial defects syndrome
ORPHA:2549: Moeschler-Clarren syndrome
ORPHA:254902: Renal tubulopathy-encephalopathy-liver failure syndrome
ORPHA:254905: Isolated cytochrome C oxidase deficiency
ORPHA:254905: Isolated COX deficiency
ORPHA:254905: Isolated mitochondrial respiratory chain complex IV deficiency
ORPHA:254913: Isolated ATP synthase deficiency
ORPHA:254913: Isolated mitochondrial respiratory chain complex V deficiency
ORPHA:254920: Combined oxidative phosphorylation defect type 2
ORPHA:254920: COXPD2
ORPHA:254925: Combined oxidative phosphorylation defect type 4
ORPHA:254925: COXPD4
ORPHA:254930: Combined oxidative phosphorylation defect type 7
ORPHA:254930: COXPD7
ORPHA:254930: Severe C12ORF65-related COXPD
ORPHA:254930: Severe C12ORF65-related combined oxidative phosphorylation defect
ORPHA:255: Dopa-responsive dystonia
ORPHA:255: HPD with diurnal fluctuation
ORPHA:255: Hereditary progressive dystonia with diurnal fluctuation
ORPHA:2551: Microspherophakia-metaphyseal dysplasia syndrome
ORPHA:2551: Verloes-Van Maldergem-de Marneffe syndrome
ORPHA:255132: Adult-onset autosomal recessive sideroblastic anemia
ORPHA:255132: GLRX5-related sideroblastic anemia
ORPHA:255138: Pyruvate dehydrogenase E1-beta deficiency
ORPHA:255138: PDHBD
ORPHA:255138: Pyruvate dehydrogenase complex E1 component subunit beta deficiency
ORPHA:255182: Pyruvate dehydrogenase E3-binding protein deficiency
ORPHA:255182: 2-oxoglutarate complex deficiency
ORPHA:255182: Branched chain alpha-ketoacid dehydrogenase complex deficiency
ORPHA:255182: Diaphorase deficiency
ORPHA:255182: Dihydrolipoyl dehydrogenase deficiency
ORPHA:255182: Glycine cleavage system L protein deficiency
ORPHA:255182: Lipoamide dehydrogenase deficiency
ORPHA:255182: Pyruvate dehydrogenase complex component E3 deficiency
ORPHA:255182: Pyruvate dehydrogenase protein X component deficiency
ORPHA:2552: Microsporidiosis
ORPHA:255210: Mitochondrial DNA-associated Leigh syndrome
ORPHA:255210: MILS
ORPHA:255210: Maternally-inherited Leigh disease
ORPHA:255210: Maternally-inherited infantile subacute necrotizing encephalopathy
ORPHA:255210: mtDNA-associated Leigh syndrome
ORPHA:255229: Navajo neurohepatopathy
ORPHA:255229: Navajo neuropathy
ORPHA:255235: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
ORPHA:255235: mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
ORPHA:2554: Ear-patella-short stature syndrome
ORPHA:2554: Meier-Gorlin syndrome
ORPHA:2556: Microphthalmia with linear skin defects syndrome
ORPHA:2556: MCOPS7
ORPHA:2556: MIDAS syndrome
ORPHA:2556: MLS syndrome
ORPHA:2556: Microphthalmia-dermal aplasia-sclerocornea syndrome
ORPHA:2556: Syndromic microphthalmia type 7
ORPHA:2557: Mietens syndrome
ORPHA:2557: Intellectual disability, Mietens-Weber type
ORPHA:2558: Mikati-Najjar-Sahli syndrome
ORPHA:2558: Microcephaly-hypergonadotropic hypogonadism-short stature syndrome
ORPHA:256: Early-onset generalized limb-onset dystonia
ORPHA:256: Dystonia musculorum deformans
ORPHA:256: EOTD
ORPHA:256: Early-onset generalized torsion dystonia
ORPHA:256: Early-onset isolated dystonia
ORPHA:256: Early-onset primary dystonia
ORPHA:256: Early-onset torsion dystonia
ORPHA:256: Idiopathic torsion dystonia
ORPHA:256: Oppenheim dystonia
ORPHA:2560: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
ORPHA:2561: Pyramidal molars-abnormal upper lip syndrome
ORPHA:2561: Ackerman fused molar roots syndrome
ORPHA:2563: MOMO syndrome
ORPHA:2563: Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome
ORPHA:2563: Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
ORPHA:2564: Tetramelic monodactyly
ORPHA:2564: Sommer-Hines syndrome
ORPHA:2565: Mononen-Karnes-Senac syndrome
ORPHA:2565: Skeletal dysplasia-brachydactyly syndrome
ORPHA:2566: Chronic Epstein-Barr virus infection syndrome
ORPHA:2566: CAEBV syndrome
ORPHA:2566: Chronic EBV infection syndrome
ORPHA:257: Epidermolysis bullosa simplex with muscular dystrophy
ORPHA:257: EBS with muscular dystrophy
ORPHA:257: EBS-MD
ORPHA:257: Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
ORPHA:2570: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
ORPHA:2570: Morse-Rawnsley-Sargent syndrome
ORPHA:2571: X-linked immunoneurologic disorder
ORPHA:2571: Woods-Black-Norbury syndrome
ORPHA:2572: Spastic ataxia-corneal dystrophy syndrome
ORPHA:2572: Bedouin spastic ataxia syndrome
ORPHA:2572: Mousa-Al Din-Al Nassar syndrome
ORPHA:2572: Spastic ataxia-ocular anomalies syndrome
ORPHA:2573: Moyamoya disease
ORPHA:2573: Idiopathic Moyamoya disease
ORPHA:2574: Moynahan syndrome
ORPHA:2574: Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
ORPHA:2575: Cystic fibrosis-gastritis-megaloblastic anemia syndrome
ORPHA:2575: Lubani-Al Saleh-Teebi syndrome
ORPHA:2576: Mulibrey nanism
ORPHA:2576: MUL
ORPHA:2576: Mulibrey growth disorder
ORPHA:2576: Muscle-liver-brain-eye nanism
ORPHA:2578: Mayer-Rokitansky-Küster-Hauser syndrome type 2
ORPHA:2578: Atypical MRKH syndrome
ORPHA:2578: MRKH syndrome type 2
ORPHA:2578: MURCS association
ORPHA:2578: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
ORPHA:2579: Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
ORPHA:2579: Furukawa-Takagi-Nakao syndrome
ORPHA:258: Laminin subunit alpha 2-related congenital muscular dystrophy
ORPHA:258: CMD1A
ORPHA:258: Congenital muscular dystrophy due to laminin alpha2 deficiency
ORPHA:258: Congenital muscular dystrophy type 1A
ORPHA:258: MDC1A
ORPHA:258: Merosin-negative congenital muscular dystrophy
ORPHA:2582: Myalgia-eosinophilia syndrome associated with tryptophan
ORPHA:2583: Mycetoma
ORPHA:2583: Madura foot
ORPHA:2584: Classic mycosis fungoides
ORPHA:2584: Mycosis fungoides, Alibert-Bazin type
ORPHA:2585: Ataxia-pancytopenia syndrome
ORPHA:2585: Myelocerebellar disorder
ORPHA:2587: Myeloperoxidase deficiency
ORPHA:2587: MPO deficiency
ORPHA:2588: Myhre syndrome
ORPHA:2588: Facial dysmorphism-intellectual disability-short stature-deafness syndrome
ORPHA:2588: Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
ORPHA:2588: Myhre-LAPS syndrome
ORPHA:2588: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
ORPHA:2589: Myoclonus-cerebellar ataxia-deafness syndrome
ORPHA:2589: Myoclonus-cerebellar ataxia-hearing loss syndrome
ORPHA:2590: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
ORPHA:2590: Hereditary myoclonus-progressive distal muscular atrophy syndrome
ORPHA:2590: Jankovic-Rivera syndrome
ORPHA:2590: SMA-PME
ORPHA:2591: Infantile myofibromatosis
ORPHA:2593: Tubular aggregate myopathy
ORPHA:2596: Myopathy and diabetes mellitus
ORPHA:25968: Self-limited childhood occipital epilepsy
ORPHA:25968: Benign occipital epilepsy
ORPHA:2597: Mitochondrial myopathy-lactic acidosis-deafness syndrome
ORPHA:2597: Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
ORPHA:2598: Mitochondrial myopathy and sideroblastic anemia
ORPHA:2598: MLASA
ORPHA:2598: Myopathy, lactic acidosis and sideroblastic anemia
ORPHA:25980: X-linked myopathy with excessive autophagy
ORPHA:25980: XMEA
ORPHA:26: Methylmalonic acidemia with homocystinuria
ORPHA:26: Combined defect in adenosylcobalamin and methylcobalamin synthesis
ORPHA:26: Methylmalonic aciduria with homocystinuria
ORPHA:260305: Autosomal recessive sideroblastic anemia
ORPHA:260305: ARSA
ORPHA:260305: Congenital sideroblastic anemia
ORPHA:2604: Familial visceral myopathy
ORPHA:2604: Familial hollow visceral myopathy
ORPHA:2604: Hereditary hollow visceral myopathy
ORPHA:2604: Megaduodenum and/or megacystis
ORPHA:2608: N syndrome
ORPHA:2609: Isolated complex I deficiency
ORPHA:2609: Isolated NADH-CoQ reductase deficiency
ORPHA:2609: Isolated NADH-coenzyme Q reductase deficiency
ORPHA:2609: Isolated NADH-ubiquinone reductase deficiency
ORPHA:2609: Isolated mitochondrial respiratory chain complex I deficiency
ORPHA:261: Emery-Dreifuss muscular dystrophy
ORPHA:261: EDMD
ORPHA:26106: Hereditary diffuse gastric cancer
ORPHA:26106: FDGC
ORPHA:26106: Familial diffuse cancer of stomach
ORPHA:26106: Familial diffuse gastric cancer
ORPHA:26106: HDGC
ORPHA:26106: Hereditary diffuse cancer of stomach
ORPHA:26106: Hereditary diffuse gastric adenocarcinoma
ORPHA:2611: Linear verrucous nevus syndrome
ORPHA:2611: Linear hamartoma syndrome
ORPHA:261102: Distal 7q11.23 microduplication syndrome
ORPHA:261102: Distal dup(7)(q11.23)
ORPHA:261102: Distal trisomy 7q11.23
ORPHA:261102: Dup7q11.23D
ORPHA:261112: Monosomy 9p syndrome
ORPHA:261112: 9p deletion syndrome
ORPHA:261112: 9p- syndrome
ORPHA:261112: Alfi syndrome
ORPHA:261120: 14q11.2 microdeletion syndrome
ORPHA:261120: Del(14)(q11.2)
ORPHA:261120: Monosomy 14q11.2
ORPHA:261144: FOXG1 syndrome due to 14q12 microdeletion
ORPHA:261144: Del(14)(q12)
ORPHA:261144: Monosomy 14q12
ORPHA:261183: 15q11.2 microdeletion syndrome
ORPHA:261183: 15q11.2 BP1-BP2 microdeletion syndrome
ORPHA:261183: Del(15)(q11.2)
ORPHA:261183: Monosomy 15q11.2
ORPHA:261190: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
ORPHA:261190: 15q14 microdeletion syndrome
ORPHA:261190: Del(15)(q14)
ORPHA:261190: Monosomy 15q14
ORPHA:261197: Proximal 16p11.2 microdeletion syndrome
ORPHA:261197: Proximal del(16)(p11.2)
ORPHA:261197: Proximal monosomy 16p11.2
ORPHA:2612: Linear nevus sebaceus syndrome
ORPHA:2612: Nevus sebaceus of Jadassohn
ORPHA:2612: Nevus sebaceus syndrome
ORPHA:2612: Organoid nevus syndrome
ORPHA:2612: Schimmelpenning syndrome
ORPHA:2612: Solomon syndrome
ORPHA:261204: 16p11.2p12.2 microduplication syndrome
ORPHA:261204: Dup(16)(p11.2p12.2)
ORPHA:261204: Trisomy 16p11.2p12.2
ORPHA:261211: 16p11.2p12.2 microdeletion syndrome
ORPHA:261211: Del(16)(p11.2p12.2)
ORPHA:261211: Monosomy 16p11.2p12.2
ORPHA:261222: Distal 16p11.2 microdeletion syndrome
ORPHA:261222: Distal del(16)(p11.2)
ORPHA:261222: Distal monosomy 16p11.2
ORPHA:261229: 14q11.2 microduplication syndrome
ORPHA:261229: Dup(14)(q11.2)
ORPHA:261229: Trisomy 14q11.2
ORPHA:261236: 16p13.11 microdeletion syndrome
ORPHA:261236: Del(16)(p13.11)
ORPHA:261236: Monosomy 16p13.11
ORPHA:261243: 16p13.11 microduplication syndrome
ORPHA:261243: Dup(16)(p13.11)
ORPHA:261243: Trisomy 16p13.11
ORPHA:261250: 16q24.3 microdeletion syndrome
ORPHA:261250: Del(16)(q24.3)
ORPHA:261250: Monosomy 16q24.3
ORPHA:261257: Distal 17p13.3 microdeletion syndrome
ORPHA:261257: Distal del(17)(p13.3 )
ORPHA:261257: Distal monosomy 17p13.3
ORPHA:261265: 17q12 microdeletion syndrome
ORPHA:261265: Del(17)(q12)
ORPHA:261265: Monosomy 17q12
ORPHA:261272: 17q12 microduplication syndrome
ORPHA:261272: Dup(17)(q12)
ORPHA:261272: Trisomy 17q12
ORPHA:261279: 17q23.1q23.2 microdeletion syndrome
ORPHA:261279: Del(17)(q23.1q23.2)
ORPHA:261279: Monosomy 17q23.1q23.2
ORPHA:261290: Trisomy 17p syndrome
ORPHA:261290: Dup(17p)
ORPHA:261295: 20p12.3 microdeletion syndrome
ORPHA:261295: Del(20)(p12.3)
ORPHA:261295: Monosomy 20p12.3
ORPHA:2613: Nail-patella-like renal disease
ORPHA:2613: Salcedo syndrome
ORPHA:261304: Paternal 20q13.2q13.3 microdeletion syndrome
ORPHA:261304: Paternal del(20)(q13.2q13.3)
ORPHA:261304: Paternal monosomy 20q13.2q13.3
ORPHA:261311: 20q13.33 microdeletion syndrome
ORPHA:261311: Del(20)(q13.33)
ORPHA:261311: Monosomy 20q13.33
ORPHA:261318: Trisomy 20p syndrome
ORPHA:261318: Dup(20p)
ORPHA:261318: Duplication of 20p
ORPHA:261318: Partial duplication of chromosome 20p
ORPHA:261318: Partial duplication of the short arm of chromosome 20
ORPHA:261318: Partial trisomy of chromosome 20p
ORPHA:261318: Partial trisomy of the short arm of chromosome 20
ORPHA:261323: 21q22.11q22.12 microdeletion syndrome
ORPHA:261323: Del(21)(q22.11q22.12)
ORPHA:261323: Monosomy 21q22.11q22.12
ORPHA:261330: Distal 22q11.2 microdeletion syndrome
ORPHA:261330: Distal del(22)(q11.2)
ORPHA:261330: Distal monosomy 22q11.2
ORPHA:261337: Distal 22q11.2 microduplication syndrome
ORPHA:261337: Distal dup(22)(q11.2)
ORPHA:261337: Distal trisomy 22q11.2
ORPHA:261344: Trisomy 1q syndrome
ORPHA:261344: Duplication 1q
ORPHA:261349: 2p15p16.1 microdeletion syndrome
ORPHA:261349: Del(2)(p15p16.1)
ORPHA:261349: Monosomy 2p15p16.1
ORPHA:26137: Juvenile temporal arteritis
ORPHA:26137: JTA
ORPHA:26137: Non-giant cell granulomatous temporal arteritis with eosinophilia
ORPHA:2614: Nail-patella syndrome
ORPHA:2614: Onychoosteodysplasia
ORPHA:2614: Turner-Kieser syndrome
ORPHA:261476: Xp21 deletion syndrome
ORPHA:261476: Complex GKD
ORPHA:261476: Complex glycerol kinase deficiency
ORPHA:261476: Del(X)(p21)
ORPHA:261476: Xp21 contiguous gene deletion syndrome
ORPHA:261476: Xp21 microdeletion syndrome
ORPHA:261483: Xq27.3q28 duplication syndrome
ORPHA:261483: Dup(X)(q27.3q28)
ORPHA:261483: Trisomy Xq27.3-q28
ORPHA:261483: Trisomy Xq27.3q28
ORPHA:261483: Xq27.3-q28 microduplication syndrome
ORPHA:261494: Kleefstra syndrome
ORPHA:261501: Atypical Norrie disease due to Xp11.3 microdeletion
ORPHA:261501: Atypical Norrie disease due to del(X)(p11.3)
ORPHA:261501: Atypical Norrie disease due to nullisomy Xp11.3
ORPHA:261519: Maternal uniparental disomy of chromosome X syndrome
ORPHA:261519: UPD(X)mat
ORPHA:261524: Paternal uniparental disomy of chromosome X syndrome
ORPHA:261524: UPD(X)pat
ORPHA:261529: Ring chromosome Y syndrome
ORPHA:261529: Ring chromosome Y
ORPHA:261529: r(Y)
ORPHA:261534: 49,XXXYY syndrome
ORPHA:261537: Mowat-Wilson syndrome due to monosomy 2q22
ORPHA:261537: Hirschsprung disease and intellectual disability due to 2q22 microdeletion
ORPHA:261537: Hirschsprung disease and intellectual disability due to del(2)(q22)
ORPHA:261537: Hirschsprung disease and intellectual disability due to monosomy 2q22
ORPHA:261537: Mowat-Wilson syndrome due to 2q22 microdeletion
ORPHA:261537: Mowat-Wilson syndrome due to del(2)q(22)
ORPHA:261552: Mowat-Wilson syndrome due to a ZEB2 point mutation
ORPHA:261552: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
ORPHA:261584: Familial adenomatous polyposis due to 5q22.2 microdeletion
ORPHA:261584: Colorectal adenomatous polyposis due to monosomy 5q22.2
ORPHA:261584: FAP due to monosomy 5q22.2
ORPHA:261584: Familial adenomatous polyposis due to del(5)(q22.2)
ORPHA:261584: Familial adenomatous polyposis due to monosomy 5q22.2
ORPHA:261584: Familial polyposis coli due to monosomy 5q22.2
ORPHA:2616: 3M syndrome
ORPHA:2616: 3-M syndrome
ORPHA:2616: Yakut short stature syndrome
ORPHA:261600: Alagille syndrome due to 20p12 microdeletion
ORPHA:261600: Alagille syndrome due to del(20)(p12)
ORPHA:261600: Alagille syndrome due to monosomy 20p12
ORPHA:261600: Alagille-Watson syndrome due to monosomy 20p12
ORPHA:261600: Arteriohepatic dysplasia due to monosomy 20p12
ORPHA:261600: Syndromic bile duct paucity due to monosomy 20p12
ORPHA:261619: Alagille syndrome due to a JAG1 point mutation
ORPHA:261619: Alagille-Watson syndrome due to a JAG1 point mutation
ORPHA:261619: Arteriohepatic dysplasia due to a JAG1 point mutation
ORPHA:261619: Syndromic bile duct paucity due to a JAG1 point mutation
ORPHA:261629: Alagille syndrome due to a NOTCH2 point mutation
ORPHA:261629: Alagille-Watson syndrome due to a NOTCH2 point mutation
ORPHA:261629: Arteriohepatic dysplasia due to a NOTCH2 point mutation
ORPHA:261629: Syndromic bile duct paucity due to a NOTCH2 point mutation
ORPHA:261638: Okihiro syndrome due to 20q13 microdeletion
ORPHA:261638: Duane-radial ray syndrome due to monosomy 20q13
ORPHA:261638: Okihiro syndrome due to del(20)(q13)
ORPHA:261638: Okihiro syndrome due to monosomy 20q13
ORPHA:261647: Okihiro syndrome due to a point mutation
ORPHA:261647: Duane-radial ray syndrome due to a point mutation
ORPHA:261652: Kleefstra syndrome due to a point mutation
ORPHA:2617: Microcephalic primordial dwarfism, Montreal type
ORPHA:2617: Bird-headed dwarfism, Montreal type
ORPHA:261766: Partial deletion of chromosome 1 syndrome
ORPHA:261766: Partial monosomy of chromosome 1
ORPHA:261771: Partial deletion of chromosome 2 syndrome
ORPHA:261771: Partial monosomy of chromosome 2
ORPHA:261776: Partial deletion of chromosome 3 syndrome
ORPHA:261776: Partial monosomy of chromosome 3
ORPHA:261781: Partial deletion of chromosome 4 syndrome
ORPHA:261781: Partial monosomy of chromosome 4
ORPHA:261786: Partial deletion of chromosome 5 syndrome
ORPHA:261786: Partial monosomy of chromosome 5
ORPHA:261791: Partial deletion of chromosome 6 syndrome
ORPHA:261791: Partial monosomy of chromosome 6
ORPHA:261796: Partial deletion of chromosome 7 syndrome
ORPHA:261796: Partial monosomy of chromosome 7
ORPHA:261801: Partial deletion of chromosome 8 syndrome
ORPHA:261801: Partial monosomy of chromosome 8
ORPHA:261806: Partial deletion of chromosome 9 syndrome
ORPHA:261806: Partial monosomy of chromosome 9
ORPHA:261811: Partial deletion of chromosome 10 syndrome
ORPHA:261811: Partial monosomy of chromosome 10
ORPHA:261816: Partial deletion of chromosome 11 syndrome
ORPHA:261816: Partial monosomy of chromosome 11
ORPHA:261821: Partial deletion of the long arm of chromosome 12 syndrome
ORPHA:261821: Partial deletion of chromosome 12q
ORPHA:261821: Partial monosomy of chromosome 12q
ORPHA:261821: Partial monosomy of the long arm of chromosome 12
ORPHA:261826: Partial deletion of chromosome 16 syndrome
ORPHA:261826: Partial monosomy of chromosome 16
ORPHA:261831: Partial deletion of chromosome 17 syndrome
ORPHA:261831: Partial monosomy of chromosome 17
ORPHA:261836: Partial deletion of chromosome 18 syndrome
ORPHA:261836: Partial monosomy of chromosome 18
ORPHA:261841: Partial deletion of chromosome 19 syndrome
ORPHA:261841: Partial monosomy of chromosome 19
ORPHA:261846: Partial deletion of chromosome 20 syndrome
ORPHA:261846: Partial monosomy of chromosome 20
ORPHA:261857: Partial deletion of the short arm of chromosome 1 syndrome
ORPHA:261857: Partial deletion of chromosome 1p
ORPHA:261857: Partial monosomy of chromosome 1p
ORPHA:261857: Partial monosomy of the short arm of chromosome 1
ORPHA:261866: Partial deletion of the short arm of chromosome 2 syndrome
ORPHA:261866: Partial deletion of chromosome 2p
ORPHA:261866: Partial monosomy of chromosome 2p
ORPHA:261866: Partial monosomy of the short arm of chromosome 2
ORPHA:261875: Partial deletion of the short arm of chromosome 3 syndrome
ORPHA:261875: Partial deletion of chromosome 3p
ORPHA:261875: Partial monosomy of chromosome 3p
ORPHA:261875: Partial monosomy of the short arm of chromosome 3
ORPHA:261884: Partial deletion of the short arm of chromosome 4 syndrome
ORPHA:261884: Partial deletion of chromosome 4p
ORPHA:261884: Partial monosomy of chromosome 4p
ORPHA:261884: Partial monosomy of the short arm of chromosome 4
ORPHA:261893: Partial deletion of the short arm of chromosome 5 syndrome
ORPHA:261893: Partial deletion of chromosome 5p
ORPHA:261893: Partial monosomy of chromosome 5p
ORPHA:261893: Partial monosomy of the short arm of chromosome 5
ORPHA:2619: Brachydactylous dwarfism, Mseleni type
ORPHA:2619: Mseleni joint disease
ORPHA:261902: Partial deletion of the short arm of chromosome 6 syndrome
ORPHA:261902: Partial deletion of chromosome 6p
ORPHA:261902: Partial monosomy of chromosome 6p
ORPHA:261902: Partial monosomy of the short arm of chromosome 6
ORPHA:261911: Partial deletion of the short arm of chromosome 7 syndrome
ORPHA:261911: Partial deletion of chromosome 7p
ORPHA:261911: Partial monosomy of chromosome 7p
ORPHA:261911: Partial monosomy of the short arm of chromosome 7