TaoMedAI/RareMedData huggingface dataset:
ORPHA:3047: Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
ORPHA:3047: SBBYS variant of Ohdo syndrome
ORPHA:3047: SBBYSS
ORPHA:3047: Say-Barber-Biesecker-Young-Simpson syndrome
ORPHA:305: Junctional epidermolysis bullosa
ORPHA:305: Epidermolysis bullosa atrophicans
ORPHA:305: JEB
ORPHA:3051: Nicolaides-Baraitser syndrome
ORPHA:3051: Intellectual disability-sparse hair-brachydactyly syndrome
ORPHA:3052: X-linked intellectual disability-seizures-psoriasis syndrome
ORPHA:3052: Tranebjaerg-Svejgaard syndrome
ORPHA:3055: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
ORPHA:3055: Young-Hughes syndrome
ORPHA:3057: Monoamine oxidase A deficiency
ORPHA:3057: Brunner syndrome
ORPHA:306: Self-limited infantile epilepsy
ORPHA:306: BFIE
ORPHA:306: BFIS
ORPHA:306: Benign familial infantile convulsions
ORPHA:306: Benign familial infantile epilepsy
ORPHA:306: Benign familial infantile seizures
ORPHA:306: SeLIE
ORPHA:3063: X-linked intellectual disability, Snyder type
ORPHA:3063: Snyder-Robinson syndrome
ORPHA:306431: Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
ORPHA:306431: Acquired adult-onset immunodeficiency
ORPHA:306431: Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies
ORPHA:306498: PTEN hamartoma tumor syndrome
ORPHA:306498: PHTS
ORPHA:306504: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
ORPHA:306504: ILNEB syndrome
ORPHA:306504: JEB with interstitial lung disease and nephrotic syndrome
ORPHA:306504: Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome
ORPHA:306511: Autosomal recessive spastic paraplegia type 48
ORPHA:306511: SPG48
ORPHA:306516: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
ORPHA:306516: FHHNC
ORPHA:306516: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
ORPHA:306516: Michellis-Castrillo syndrome
ORPHA:306527: Isolated hereditary congenital facial paralysis
ORPHA:306530: Congenital hereditary facial paralysis-variable hearing loss syndrome
ORPHA:306530: Congenital hereditary facial palsy with variable deafness
ORPHA:306530: Congenital hereditary facial palsy with variable hearing loss
ORPHA:306530: Congenital hereditary facial paralysis with variable deafness
ORPHA:306530: Congenital hereditary facial paralysis-variable deafness syndrome
ORPHA:306542: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ORPHA:306542: ALX1-related frontonasal dysplasia
ORPHA:306542: Frontonasal dysplasia type 3
ORPHA:306547: Porencephaly-microcephaly-bilateral congenital cataract syndrome
ORPHA:306550: FADD-related immunodeficiency
ORPHA:306553: Myospherulosis
ORPHA:306553: Spherulocytosis
ORPHA:306553: Subcutaneous spherulocystic disease
ORPHA:306558: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
ORPHA:306577: Hereditary sodium channelopathy-related small fibers neuropathy
ORPHA:306617: X-linked complicated spastic paraplegia type 1
ORPHA:306617: SPG1
ORPHA:306633: Rare tumor of gallbladder and extrahepatic biliary tract
ORPHA:306633: Rare tumor of gallbladder and EBT
ORPHA:306636: Rare tumor of liver and intrahepatic biliary tract
ORPHA:306636: Rare tumor of liver and IBT
ORPHA:306640: Rare intoxication due to medical products
ORPHA:306644: Complication after organ transplantation
ORPHA:306648: Non-infectious anterior uveitis
ORPHA:306648: Non-infectious iridocyclitis
ORPHA:306658: Familial normophosphatemic tumoral calcinosis
ORPHA:306661: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
ORPHA:306661: Hypercalcemic tumoral calcinosis
ORPHA:306666: Rare parkinsonian syndrome due to neurodegenerative disease
ORPHA:306669: Hemiparkinsonism-hemiatrophy syndrome
ORPHA:306669: HP-HA syndrome
ORPHA:306674: Kufor-Rakeb syndrome
ORPHA:306674: PARK9
ORPHA:306679: Rare parkinsonian syndrome due to intoxication
ORPHA:306682: Manganese poisoning
ORPHA:306682: Manganese intoxication
ORPHA:306682: Manganism
ORPHA:306686: Delayed encephalopathy due to carbon monoxide poisoning
ORPHA:306686: Delayed encephalopathy due to CO poisoning
ORPHA:306692: Cyanide-induced parkinsonism-dystonia
ORPHA:306695: Miscellaneous movement disorder due to neurodegenerative disease
ORPHA:306708: Frontotemporal neurodegeneration with movement disorder
ORPHA:306712: Rare tremor disorder
ORPHA:306715: Rare choreic movement disorder
ORPHA:306719: Neurodegenerative disease with chorea
ORPHA:306727: Postinfectious autoimmune disease with chorea
ORPHA:306731: Sydenham chorea
ORPHA:306734: Primary dystonia, DYT21 type
ORPHA:306734: DYT21
ORPHA:306741: Hemidystonia-hemiatrophy syndrome
ORPHA:306741: HD-HA syndrome
ORPHA:306747: Rare myoclonus
ORPHA:306750: Primary myoclonus
ORPHA:306753: Rare disease with myoclonus as a major feature
ORPHA:306756: Epilepsy and/or ataxia with myoclonus as a major feature
ORPHA:306759: Non progressive epilepsy and/or ataxia with myoclonus as a major feature
ORPHA:306765: Motor stereotypies
ORPHA:306768: Rare paroxysmal movement disorder
ORPHA:306773: Hyperekplexia
ORPHA:306776: Sporadic hyperekplexia
ORPHA:3068: Intellectual disability-myopathy-short stature-endocrine defect syndrome
ORPHA:3068: Chudley-Rozdilsky syndrome
ORPHA:307: Juvenile myoclonic epilepsy
ORPHA:307: JME
ORPHA:307: Juvenile myoclonus epilepsy
ORPHA:307052: Rare genetic parkinsonian disorder
ORPHA:307052: Rare genetic hypokinetic movement disorder
ORPHA:307055: Rare parkinsonian syndrome due to genetic neurodegenerative disease
ORPHA:307058: Miscellaneous movement disorder due to genetic neurodegenerative disease
ORPHA:307061: Rare genetic tremor disorder
ORPHA:307064: Rare genetic myoclonus
ORPHA:307067: Rare genetic disease with myoclonus as a major feature
ORPHA:3071: Costello syndrome
ORPHA:3071: FCS syndrome
ORPHA:3071: Faciocutaneoskeletal syndrome
ORPHA:307141: Diffuse palmoplantar keratoderma
ORPHA:307141: Diffuse PPK
ORPHA:307141: Diffuse keratosis palmoplantaris
ORPHA:307141: Diffuse palmoplantar hyperkeratosis
ORPHA:307148: Isolated diffuse palmoplantar keratoderma
ORPHA:307148: Isolated diffuse PPK
ORPHA:307148: Isolated diffuse keratosis palmoplantaris
ORPHA:307148: Isolated diffuse palmoplantar hyperkeratosis
ORPHA:3074: Intellectual disability-short stature-hypertelorism syndrome
ORPHA:3074: Stoll-Géraudel-Chauvin syndrome
ORPHA:3077: X-linked intellectual disability-psychosis-macroorchidism syndrome
ORPHA:3077: Lindsay-Burn syndrome
ORPHA:3077: PPM-X
ORPHA:307711: Disease with diffuse palmoplantar keratoderma as a major feature
ORPHA:307711: Disease with diffuse palmoplantar hyperkeratosis as a major feature
ORPHA:307766: Curly hair-acral keratoderma-caries syndrome
ORPHA:307766: CHAC syndrome
ORPHA:307766: CHACS
ORPHA:307773: Autosomal dominant diffuse mutilating palmoplantar keratoderma
ORPHA:307773: Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis
ORPHA:3078: Severe X-linked intellectual disability, Gustavson type
ORPHA:307804: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
ORPHA:307804: Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature
ORPHA:307837: Focal palmoplantar keratoderma
ORPHA:307837: Focal PPK
ORPHA:307837: Focal keratosis palmoplantaris
ORPHA:307837: Focal palmoplantar hyperkeratosis
ORPHA:307846: Isolated focal palmoplantar keratoderma
ORPHA:307846: Isolated focal PPK
ORPHA:307846: Isolated focal keratosis palmoplantaris
ORPHA:307846: Isolated focal palmoplantar hyperkeratosis
ORPHA:307871: Disease with focal palmoplantar keratoderma as a major feature
ORPHA:307871: Disease with focal palmoplantar hyperkeratosis as a major feature
ORPHA:3079: Intellectual disability, Buenos-Aires type
ORPHA:3079: Mutchinick syndrome
ORPHA:307936: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
ORPHA:307936: HOPP syndrome
ORPHA:307936: Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
ORPHA:307936: Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
ORPHA:307936: Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
ORPHA:307967: Punctate palmoplantar keratoderma
ORPHA:307967: Punctate PPK
ORPHA:307967: Punctate keratosis palmoplantaris
ORPHA:307967: Punctate palmoplantar hyperkeratosis
ORPHA:307995: Marginal papular palmoplantar keratoderma
ORPHA:307995: Marginal papular palmoplantar hyperkeratosis
ORPHA:308: Progressive myoclonic epilepsy type 1
ORPHA:308: EPM1
ORPHA:308: Progressive myoclonus epilepsy type 1
ORPHA:308: ULD
ORPHA:308: Unverricht-Lundborg disease
ORPHA:3080: Intellectual disability, Wolff type
ORPHA:3080: Wolff-Zimmermann syndrome
ORPHA:308013: Focal acral hyperkeratosis
ORPHA:308013: PPKP3 without elastoidosis
ORPHA:308013: PPPK3 without elastoidosis
ORPHA:308013: Punctate palmoplantar hyperkeratosis type 3 without elastoidosis
ORPHA:308013: Punctate palmoplantar keratoderma type 3 without elastoidosis
ORPHA:308023: Disease with punctate palmoplantar keratoderma as a major feature
ORPHA:308023: Disease with punctate palmoplantar hyperkeratosis as a major feature
ORPHA:308031: Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
ORPHA:308031: Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature
ORPHA:308041: Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
ORPHA:308041: Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature
ORPHA:308166: Erythrokeratoderma variabilis progressiva
ORPHA:3082: Intellectual disability-polydactyly-uncombable hair syndrome
ORPHA:3082: Kozlowski-Krajewska syndrome
ORPHA:308380: Methylcobalamin deficiency type cblDv1
ORPHA:308380: Functional methionine synthase deficiency type cblDv1
ORPHA:308386: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
ORPHA:308386: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
ORPHA:308386: MOCOD type A
ORPHA:308393: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
ORPHA:308393: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
ORPHA:308393: MOCOD type B
ORPHA:308400: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
ORPHA:308400: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
ORPHA:308400: MOCOD type C
ORPHA:308407: Disorder of beta and omega amino acid metabolism
ORPHA:308410: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
ORPHA:308425: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
ORPHA:308425: MCEE deficiency
ORPHA:308425: Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
ORPHA:308425: Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
ORPHA:308425: Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
ORPHA:308442: Vitamin B12-responsive methylmalonic acidemia, type cblDv2
ORPHA:308442: Vitamin B12-responsive methylmalonic aciduria, type cblDv2
ORPHA:308448: Aminoacylase deficiency
ORPHA:308451: Disorder of neutral amino acid transport
ORPHA:308459: Disorder of glycolysis
ORPHA:308463: Disorder of fructose metabolism
ORPHA:308467: Disorder of galactose metabolism
ORPHA:308473: Erythrocyte galactose epimerase deficiency
ORPHA:308473: Erythrocyte GALE deficiency
ORPHA:308473: Erythrocyte GALE-D
ORPHA:308473: Erythrocyte UDP-galactose-4-epimerase deficiency
ORPHA:308473: Erythrocyte epimerase deficiency galactosemia
ORPHA:308473: Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
ORPHA:308487: Generalized galactose epimerase deficiency
ORPHA:308487: Generalized GALE deficiency
ORPHA:308487: Generalized GALE-D
ORPHA:308487: Generalized UDP-galactose-4-epimerase deficiency
ORPHA:308487: Generalized epimerase deficiency galactosemia
ORPHA:308487: Generalized uridine diphosphate galactose-4-epimerase deficiency
ORPHA:3085: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
ORPHA:3085: Edwards-Sethi syndrome
ORPHA:3085: Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
ORPHA:3085: Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
ORPHA:308520: Glycogen storage disease due to glycogen synthase deficiency
ORPHA:308520: GSD due to glycogen synthase deficiency
ORPHA:308520: Glycogenosis due to glycogen synthase deficiency
ORPHA:308552: Glycogen storage disease due to acid maltase deficiency, infantile onset
ORPHA:308552: Alpha-1,4-glucosidase acid deficiency, infantile onset
ORPHA:308552: GSD due to acid maltase deficiency, infantile onset
ORPHA:308552: GSD type 2, infantile onset
ORPHA:308552: GSD type II, infantile onset
ORPHA:308552: Glycogen storage disease type 2, infantile onset
ORPHA:308552: Glycogen storage disease type II, infantile onset
ORPHA:308552: Glycogenosis due to acid maltase deficiency, infantile onset
ORPHA:308552: Glycogenosis type 2, infantile onset
ORPHA:308552: Glycogenosis type II, infantile onset
ORPHA:308552: Pompe disease, infantile onset
ORPHA:3086: Autosomal dominant vitreoretinochoroidopathy
ORPHA:3086: ADVIRC
ORPHA:308621: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
ORPHA:308621: GBE deficiency, progressive hepatic form
ORPHA:308621: GSD due to glycogen branching enzyme deficiency, progressive hepatic form
ORPHA:308621: GSD type 4, progressive hepatic form
ORPHA:308621: GSDIV, progressive hepatic form
ORPHA:308621: Glycogen storage disease type 4, progressive hepatic form
ORPHA:308621: Glycogen storage disease type IV, progressive hepatic form
ORPHA:308621: Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form
ORPHA:308621: Glycogenosis type 4, progressive hepatic form
ORPHA:308621: Glycogenosis type IV, progressive hepatic form
ORPHA:308638: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
ORPHA:308638: GBE deficiency, non progressive hepatic form
ORPHA:308638: GSD due to glycogen branching enzyme deficiency, non progressive hepatic form
ORPHA:308638: GSD type 4, non progressive hepatic form
ORPHA:308638: GSDIV, non progressive hepatic form
ORPHA:308638: Glycogen storage disease type 4, non progressive hepatic form
ORPHA:308638: Glycogen storage disease type IV, non progressive hepatic form
ORPHA:308638: Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form
ORPHA:308638: Glycogenosis type 4, non progressive hepatic form
ORPHA:308638: Glycogenosis type IV, non progressive hepatic form
ORPHA:308655: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
ORPHA:308655: GBE deficiency, fatal perinatal neuromuscular form
ORPHA:308655: GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
ORPHA:308655: GSD type 4, fatal perinatal neuromuscular form
ORPHA:308655: GSDIV, fatal perinatal neuromuscular form
ORPHA:308655: Glycogen storage disease type 4, fatal perinatal neuromuscular form
ORPHA:308655: Glycogen storage disease type IV, fatal perinatal neuromuscular form
ORPHA:308655: Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
ORPHA:308655: Glycogenosis type 4, fatal perinatal neuromuscular form
ORPHA:308655: Glycogenosis type IV, fatal perinatal neuromuscular form
ORPHA:308670: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
ORPHA:308670: GBE deficiency, congenital neuromuscular form
ORPHA:308670: GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
ORPHA:308670: GSD type 4, congenital neuromuscular form
ORPHA:308670: GSDIV, congenital neuromuscular form
ORPHA:308670: Glycogen storage disease type 4, congenital neuromuscular form
ORPHA:308670: Glycogen storage disease type IV, congenital neuromuscular form
ORPHA:308670: Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
ORPHA:308670: Glycogenosis type 4, congenital neuromuscular form
ORPHA:308670: Glycogenosis type IV, congenital neuromuscular form
ORPHA:308684: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
ORPHA:308684: GBE deficiency, childhood combined hepatic and myopathic form
ORPHA:308684: GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
ORPHA:308684: GSD type 4, childhood combined hepatic and myopathic form
ORPHA:308684: GSDIV, childhood combined hepatic and myopathic form
ORPHA:308684: Glycogen storage disease type 4, childhood combined hepatic and myopathic form
ORPHA:308684: Glycogen storage disease type IV, childhood combined hepatic and myopathic form
ORPHA:308684: Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
ORPHA:308684: Glycogenosis type 4, childhood combined hepatic and myopathic form
ORPHA:308684: Glycogenosis type IV, childhood combined hepatic and myopathic form
ORPHA:308698: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
ORPHA:308698: GBE deficiency, childhood neuromuscular form
ORPHA:308698: GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form
ORPHA:308698: GSD type 4, childhood neuromuscular form
ORPHA:308698: GSDIV, childhood neuromuscular form
ORPHA:308698: Glycogen storage disease type 4, childhood neuromuscular form
ORPHA:308698: Glycogen storage disease type IV, childhood neuromuscular form
ORPHA:308698: Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form
ORPHA:308698: Glycogenosis type 4, childhood neuromuscular form
ORPHA:308698: Glycogenosis type IV, childhood neuromuscular form
ORPHA:308712: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
ORPHA:308712: GBE deficiency, adult neuromuscular form
ORPHA:308712: GSD due to glycogen branching enzyme deficiency, adult neuromuscular form
ORPHA:308712: GSD type 4, adult neuromuscular form
ORPHA:308712: GSDIV, adult neuromuscular form
ORPHA:308712: Glycogen storage disease type 4, adult neuromuscular form
ORPHA:308712: Glycogen storage disease type IV, adult neuromuscular form
ORPHA:308712: Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form
ORPHA:308712: Glycogenosis type 4, adult neuromuscular form
ORPHA:308712: Glycogenosis type IV, adult neuromuscular form
ORPHA:3088: Revesz syndrome
ORPHA:3088: Dyskeratosis congenita with bilateral exudative retinopathy
ORPHA:3088: Retinopathy-anemia-central nervous system anomalies syndrome
ORPHA:3088: Revesz-DeBuse syndrome
ORPHA:308993: Glycerol kinase deficiency
ORPHA:308998: Disorder of glyoxylate metabolism
ORPHA:309: Familial partial epilepsy
ORPHA:3090: Congenital pulmonary venous return anomaly
ORPHA:3090: Congenital pulmonary venous connection anomaly
ORPHA:309001: Disorder of carbohydrate absorption and transport
ORPHA:309005: Disorder of lipid metabolism
ORPHA:309015: Familial lipoprotein lipase deficiency
ORPHA:309015: LPL deficiency
ORPHA:309020: Familial apolipoprotein C-II deficiency
ORPHA:309020: Familial APOC2 deficiency
ORPHA:309020: Familial apoC-II deficiency
ORPHA:309025: Mevalonate kinase deficiency
ORPHA:309025: MKD
ORPHA:309028: Disorder of lipid absorption and transport
ORPHA:309031: Pancreatic triacylglycerol lipase deficiency
ORPHA:309031: Pancreatic triglyceride lipase deficiency
ORPHA:3091: Congenital systemic veins anomaly
ORPHA:309108: Pancreatic colipase deficiency
ORPHA:309111: Combined pancreatic lipase-colipase deficiency
ORPHA:309115: Disorder of fatty acid oxidation and ketogenesis
ORPHA:309120: Acyl-CoA dehydrogenase deficiency
ORPHA:309127: 3-hydroxyacyl-CoA dehydrogenase deficiency
ORPHA:309130: Disorder of carnitine cycle and carnitine transport
ORPHA:309133: Metabolic disease due to other fatty acid oxidation disorder
ORPHA:309136: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
ORPHA:309144: Gangliosidosis
ORPHA:309147: Hyper-beta-alaninemia
ORPHA:309147: Hyperalaninemia
ORPHA:309152: GM2 gangliosidosis
ORPHA:309155: Sandhoff disease, infantile form
ORPHA:309155: Beta-hexosaminidase subunit beta deficiency, infantile form
ORPHA:309155: GM2 gangliosidosis, Sandhoff variant, infantile form
ORPHA:309155: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
ORPHA:309162: Sandhoff disease, juvenile form
ORPHA:309162: Beta-hexosaminidase subunit beta deficiency, juvenile form
ORPHA:309162: GM2 gangliosidosis, Sandhoff variant, juvenile form
ORPHA:309162: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
ORPHA:309169: Sandhoff disease, adult form
ORPHA:309169: Beta-hexosaminidase subunit beta deficiency, adult form
ORPHA:309169: GM2 gangliosidosis, Sandhoff variant, adult form
ORPHA:309169: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
ORPHA:309178: Tay-Sachs disease, infantile form
ORPHA:309178: Acute infantile Tay-Sachs disease
ORPHA:309178: Beta-hexosaminidase subunit alpha deficiency, infantile form
ORPHA:309178: GM2 gangliosidosis, Tay-Sachs variant, infantile form
ORPHA:309178: GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form
ORPHA:309178: HEXA disorder, infantile form
ORPHA:309185: Tay-Sachs disease, juvenile form
ORPHA:309185: Beta-hexosaminidase subunit alpha deficiency, juvenile form
ORPHA:309185: GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form
ORPHA:309185: GM2 gangliosidosis, Tay-Sachs variant, juvenile form
ORPHA:309185: HEXA disorder, juvenile form
ORPHA:309185: Subacute juvenile Tay-Sachs disease
ORPHA:309192: Tay-Sachs disease, adult form
ORPHA:309192: Beta-hexosaminidase subunit alpha deficiency, adult  form
ORPHA:309192: GM2 gangliosidosis, Tay-Sachs variant, adult form
ORPHA:309192: GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form
ORPHA:309192: HEXA disorder, adult form
ORPHA:309192: Late-onset Tay-Sachs disease
ORPHA:3092: Fixed subaortic stenosis
ORPHA:30924: Primary hypomagnesemia with secondary hypocalcemia
ORPHA:30924: HOMG1
ORPHA:30924: HSH
ORPHA:30924: Hypomagnesemia caused by selective magnesium malabsorption
ORPHA:30924: Hypomagnesemia intestinal type 1
ORPHA:30924: Intestinal hypomagnesemia with secondary hypocalcemia
ORPHA:30924: PHSH
ORPHA:309246: GM2 gangliosidosis, AB variant
ORPHA:309246: Hexosaminidase activator deficiency
ORPHA:30925: Hereditary arginine vasopressin deficiency
ORPHA:30925: Hereditary CDI
ORPHA:30925: Hereditary neurogenic diabetes insipidus
ORPHA:309252: Atypical Gaucher disease due to saposin C deficiency
ORPHA:309256: Metachromatic leukodystrophy, late infantile form
ORPHA:309256: Arylsulfatase A deficiency, late infantile form
ORPHA:309256: MLD, late infantile form
ORPHA:309263: Metachromatic leukodystrophy, juvenile form
ORPHA:309263: Arylsulfatase A deficiency, juvenile form
ORPHA:309263: MLD, juvenile form
ORPHA:309271: Metachromatic leukodystrophy, adult form
ORPHA:309271: Arylsulfatase A deficiency, adult form
ORPHA:309271: MLD, adult form
ORPHA:309279: Glycoproteinosis
ORPHA:309282: Alpha-mannosidosis, infantile form
ORPHA:309282: Lysosomal alpha-D-mannosidase deficiency, infantile form
ORPHA:309288: Alpha-mannosidosis, adult form
ORPHA:309288: Lysosomal alpha-D-mannosidase deficiency, adult form
ORPHA:309294: Sialidosis
ORPHA:309297: Mucopolysaccharidosis type 4A
ORPHA:309297: GALNS deficiency
ORPHA:309297: Galactosamine-6-sulfatase deficiency
ORPHA:309297: MPS4A
ORPHA:309297: MPSIVA
ORPHA:309297: Morquio disease type A
ORPHA:309297: Mucopolysaccharidosis type IVA
ORPHA:309297: N-acetylgalactosamine-6-sulfate sulfatase deficiency
ORPHA:3093: Congenital aortic valve stenosis
ORPHA:309310: Mucopolysaccharidosis type 4B
ORPHA:309310: Beta-D-galactosidase deficiency
ORPHA:309310: MPS4B
ORPHA:309310: MPSIVB
ORPHA:309310: Morquio disease type B
ORPHA:309310: Mucopolysaccharidosis type IVB