TaoMedAI/RareMedData huggingface dataset:
ORPHA:73: Vanishing bone disease
ORPHA:730: Autosomal dominant polycystic kidney disease
ORPHA:730: ADPKD
ORPHA:73014: Intractable diarrhea of infancy
ORPHA:73014: IDI
ORPHA:731: Autosomal recessive polycystic kidney disease
ORPHA:731: AR-PKD
ORPHA:732: Polymyositis
ORPHA:73217: Müllerian aplasia
ORPHA:73217: Aplasia of the Müllerian ducts
ORPHA:73217: Müllerian duct failure
ORPHA:73223: Global developmental delay-osteopenia-ectodermal defect syndrome
ORPHA:73224: Kidney tubulopathy-dilated cardiomyopathy syndrome
ORPHA:73229: HANAC syndrome
ORPHA:73229: Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
ORPHA:73229: Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
ORPHA:73230: Ossification anomalies-psychomotor developmental delay syndrome
ORPHA:73245: Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
ORPHA:73246: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
ORPHA:73256: Central neurocytoma
ORPHA:73260: Paracoccidioidomycosis
ORPHA:73263: Zygomycosis
ORPHA:73263: Mucormycosis
ORPHA:73267: Non-24-hour sleep-wake syndrome
ORPHA:73267: Hypernychthemeral syndrome
ORPHA:73271: Bleeding diathesis due to a collagen receptor defect
ORPHA:73272: Growth delay due to insulin-like growth factor type 1 deficiency
ORPHA:73272: Growth delay-deafness-intellectual disability syndrome
ORPHA:73272: Growth delay-hearing loss-intellectual disability syndrome
ORPHA:73272: IGF-1 deficiency
ORPHA:73272: Primary insulin-like growth factor deficiency
ORPHA:73273: Growth delay due to insulin-like growth factor I resistance
ORPHA:73273: Resistance to IGF-1
ORPHA:733: Familial adenomatous polyposis
ORPHA:733: Colorectal adenomatous polyposis
ORPHA:733: FAP
ORPHA:733: Familial polyposis coli
ORPHA:734: Alpha delta granule deficiency
ORPHA:734: Alpha dense granule deficiency
ORPHA:734: Combined alpha-delta platelet storage pool deficiency
ORPHA:73423: Acute ackee fruit intoxication
ORPHA:73423: Acute intoxication by Blighia sapida
ORPHA:73423: Jamaican vomiting sickness
ORPHA:73423: Jamaican vomiting syndrome
ORPHA:735: Porokeratosis of Mibelli
ORPHA:737: Porokeratosis plantaris palmaris et disseminata
ORPHA:737: Palmar, plantar and disseminated porokeratosis
ORPHA:738: Porphyria
ORPHA:739: Prader-Willi syndrome
ORPHA:739: Prader-Labhart-Willi syndrome
ORPHA:74: Angiostrongyliasis
ORPHA:740: Hutchinson-Gilford progeria syndrome
ORPHA:740: HGPS
ORPHA:740: Progeria
ORPHA:741: Familial mitral valve prolapse
ORPHA:742: Prolidase deficiency
ORPHA:742: Hyperimidodipeptiduria
ORPHA:743: Severe hereditary thrombophilia due to congenital protein S deficiency
ORPHA:743: Autosomal recessive thrombophilia due to congenital protein S deficiency
ORPHA:744: Proteus syndrome
ORPHA:744: Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
ORPHA:745: Severe hereditary thrombophilia due to congenital protein C deficiency
ORPHA:745: Autosomal recessive thrombophilia due to PC deficiency
ORPHA:745: Autosomal recessive thrombophilia due to congenital protein C deficiency
ORPHA:746: Mitochondrial trifunctional protein deficiency
ORPHA:746: TFP deficiency
ORPHA:746: TFPD
ORPHA:747: Autoimmune pulmonary alveolar proteinosis
ORPHA:747: Autoimmune PAP
ORPHA:747: aPAP
ORPHA:748: Mendelian susceptibility to mycobacterial diseases
ORPHA:748: Idiopathic infection caused by BCG or atypical mycobacteria
ORPHA:748: MSMD
ORPHA:748: Mendelian susceptibility to atypical mycobacteria
ORPHA:748: Mendelian susceptibility to mycobacterial infections
ORPHA:749: Congenital prekallikrein deficiency
ORPHA:750: Pseudoachondroplasia
ORPHA:750: Pseudoachondroplastic dysplasia
ORPHA:750: Pseudoachondroplastic spondyloepiphyseal dysplasia
ORPHA:75110: Myiasis
ORPHA:752: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ORPHA:752: 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ORPHA:752: 17-ketoreductase deficiency
ORPHA:752: 17-ketosteroidreductase deficiency
ORPHA:752: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ORPHA:75233: Wolman disease
ORPHA:75234: Cholesteryl ester storage disease
ORPHA:75234: Cholesterol ester storage disease
ORPHA:75249: Familial isolated restrictive cardiomyopathy
ORPHA:75249: Familial or idiopathic restrictive cardiomyopathy
ORPHA:753: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
ORPHA:753: 46,XY DSD due to 5-alpha-reductase 2 deficiency
ORPHA:753: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
ORPHA:753: Pseudovaginal perineoscrotal hypospadias
ORPHA:753: Steroid 5-alpha-reductase 2 deficiency
ORPHA:75325: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
ORPHA:75325: Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
ORPHA:75326: Familial isolated retinal arteriolar tortuosity
ORPHA:75326: Familial retinal arteriolar tortuosity
ORPHA:75326: Retinal arteriolar tortuosity
ORPHA:75326: Retinal hemorrhage with vascular tortuosity
ORPHA:75326: Tortuosity of retinal arteries
ORPHA:75327: North Carolina macular dystrophy
ORPHA:75327: CAPE dystrophy
ORPHA:75327: CAPED
ORPHA:75327: Central areolar pigment epithelial dystrophy
ORPHA:75327: Central retinal pigment epithelial dystrophy
ORPHA:75327: MCDR1
ORPHA:75327: NCMD
ORPHA:75327: North Carolina macular dystrophy, retinal 1
ORPHA:75327: Progressive foveal dystrophy
ORPHA:75373: Progressive bifocal chorioretinal atrophy
ORPHA:75373: CRAPB
ORPHA:75373: PBCRA
ORPHA:75374: Bradyopsia
ORPHA:75374: PERRS
ORPHA:75374: Prolonged electroretinal response suppression
ORPHA:75376: Familial drusen
ORPHA:75376: DHRD
ORPHA:75376: Dominant drusen
ORPHA:75376: Dominant radial drusen
ORPHA:75376: Doyne honeycomb retinal dystrophy
ORPHA:75376: Malattia leventinese
ORPHA:75377: Central areolar choroidal dystrophy
ORPHA:75377: Areolar atrophy of the macula
ORPHA:75377: CACD
ORPHA:75377: Central areolar choroidal sclerosis
ORPHA:75378: Oligocone trichromacy
ORPHA:75378: Oligocone syndrome
ORPHA:75381: Cystoid macular dystrophy
ORPHA:75381: Autosomal dominant cystoid macular edema
ORPHA:75381: DCMD
ORPHA:75381: Familial macular edema
ORPHA:75382: Oguchi disease
ORPHA:75382: Congenital stationary night blindness, Oguchi type
ORPHA:75382: Oguchi syndrome
ORPHA:75389: Brain malformation-congenital heart disease-postaxial polydactyly syndrome
ORPHA:75389: Goossens-Devriendt syndrome
ORPHA:75391: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
ORPHA:75391: Primary immunodeficiency due to MCM4 deficiency
ORPHA:75392: Periodontal Ehlers-Danlos syndrome
ORPHA:75392: EDS VIII
ORPHA:75392: Ehlers-Danlos syndrome type 8
ORPHA:75392: Ehlers-Danlos syndrome, periodontitis type
ORPHA:75392: Periodontal EDS
ORPHA:75392: pEDS
ORPHA:754: Androgen insensitivity syndrome
ORPHA:754: AIS
ORPHA:754: Androgen resistance syndrome
ORPHA:754: Goldberg-Maxwell syndrome
ORPHA:754: Morris syndrome
ORPHA:754: Testicular feminization syndrome
ORPHA:75496: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:75496: B4GALT7-related spondylodysplastic EDS
ORPHA:75496: EDS progeroid type 1
ORPHA:75496: EDS with short stature and limb anomalies
ORPHA:75496: spEDS-B4GALT7
ORPHA:75497: X-linked Ehlers-Danlos syndrome
ORPHA:75497: EDS V
ORPHA:75497: Ehlers-Danlos syndrome type 5
ORPHA:75497: X-linked EDS
ORPHA:755: Leydig cell hypoplasia
ORPHA:755: 46,XY DSD due to LH resistance or LHB deficiency
ORPHA:755: 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
ORPHA:755: 46,XY disorder of sex development due to LH resistance or LHB deficiency
ORPHA:755: 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
ORPHA:75508: Angioosteohypotrophic syndrome
ORPHA:75508: Phlebectatic osteohypoplastic angiodysplasia
ORPHA:75508: Servelle-Martorell syndrome
ORPHA:75563: X-linked sideroblastic anemia
ORPHA:75563: XLSA
ORPHA:75564: Acquired idiopathic sideroblastic anemia
ORPHA:75564: AISA
ORPHA:75564: Primary acquired sideroblastic anemia
ORPHA:75564: RARS
ORPHA:75564: Refractory anemia with ringed sideroblasts
ORPHA:75565: Tropical endomyocardial fibrosis
ORPHA:75565: Davies disease
ORPHA:75565: TEMF
ORPHA:75566: Loeffler endocarditis
ORPHA:75566: Eosinophilic endocarditis
ORPHA:75567: Primary progressive freezing gait
ORPHA:75567: PPFG
ORPHA:756: Pseudohypoaldosteronism type 1
ORPHA:756: PHA type 1
ORPHA:756: PHA1
ORPHA:757: Pseudohypoaldosteronism type 2
ORPHA:757: Chloride shunt syndrome
ORPHA:757: Familial hyperkalemic hypertension
ORPHA:757: Gordon hyperkalemia-hypertension syndrome
ORPHA:757: Hyperkalemia-hypertension syndrome, Gordon type
ORPHA:757: Hypertensive hyperkalemia
ORPHA:757: Mineralocorticoid resistant hyperkalemia
ORPHA:757: PHA2
ORPHA:757: PHAII
ORPHA:757: Spitzer-Weinstein syndrome
ORPHA:758: Pseudoxanthoma elasticum
ORPHA:758: Gronblad-Strandberg-Touraine syndrome
ORPHA:758: PXE
ORPHA:75840: Ullrich congenital muscular dystrophy
ORPHA:75840: UCMD
ORPHA:75840: Ullrich scleroatonic muscular dystrophy
ORPHA:75857: 6q terminal deletion syndrome
ORPHA:75858: MORM syndrome
ORPHA:75858: Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
ORPHA:76: Strongyloidiasis
ORPHA:76: Anguilluliasis
ORPHA:76: Anguillulosis
ORPHA:760: Purine nucleoside phosphorylase deficiency
ORPHA:760: PNP deficiency
ORPHA:760: PNPase deficiency
ORPHA:761: Immunoglobulin A vasculitis
ORPHA:761: Anaphylactoid purpura
ORPHA:761: Henoch-Schönlein purpura
ORPHA:761: IgA vasculitis
ORPHA:761: Purpura rheumatica
ORPHA:761: Rheumatoid purpura
ORPHA:763: Pycnodysostosis
ORPHA:763: Pyknodysostosis
ORPHA:764: Pyomyositis
ORPHA:764: Myositis purulenta tropica
ORPHA:764: Myositis tropicans
ORPHA:764: PM
ORPHA:764: Suppurative myositis
ORPHA:764: Tropical pyomyositis
ORPHA:765: Pyruvate dehydrogenase deficiency
ORPHA:765: PDH
ORPHA:765: PDHC
ORPHA:765: Pyruvate dehydrogenase complex deficiency
ORPHA:766: Hemolytic anemia due to red cell pyruvate kinase deficiency
ORPHA:766: Pyruvate kinase deficiency of erythrocytes
ORPHA:767: Polyarteritis nodosa
ORPHA:767: Küssmaul-Maier disease
ORPHA:767: PAN
ORPHA:767: Periarteritis nodosa
ORPHA:768: Familial long QT syndrome
ORPHA:768: Congenital long QT syndrome
ORPHA:768: LQTS
ORPHA:769: Rabson-Mendenhall syndrome
ORPHA:770: Rabies
ORPHA:772: Infantile Refsum disease
ORPHA:772: IRD
ORPHA:772: Mild PBD-ZSD
ORPHA:772: Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
ORPHA:77240: Primary lymphedema
ORPHA:77258: Trichorhinophalangeal syndrome type 1
ORPHA:77259: Gaucher disease type 1
ORPHA:77259: Non-cerebral juvenile Gaucher disease
ORPHA:77260: Gaucher disease type 2
ORPHA:77260: Acute neuronopathic Gaucher disease
ORPHA:77260: Infantile cerebral Gaucher disease
ORPHA:77261: Gaucher disease type 3
ORPHA:77261: Cerebral juvenile and adult form of Gaucher disease
ORPHA:77261: Chronic neuronopathic Gaucher disease
ORPHA:77261: Gaucher disease, subacute neuronopathic type
ORPHA:77292: Infantile neurovisceral acid sphingomyelinase deficiency
ORPHA:77292: Infantile neurovisceral ASMD
ORPHA:77292: NPD-A
ORPHA:77292: Niemann-Pick disease type A
ORPHA:77293: Chronic visceral acid sphingomyelinase deficiency
ORPHA:77293: Chronic visceral ASMD
ORPHA:77293: NPD-B
ORPHA:77293: Niemann-Pick disease type B
ORPHA:77295: Odontoleukodystrophy
ORPHA:77295: Dentoleukoencephalopathy
ORPHA:77295: Leukodystrophy with oligodontia
ORPHA:77296: Morgagni-Stewart-Morel syndrome
ORPHA:77296: Hyperostosis frontalis interna
ORPHA:77297: Majeed syndrome
ORPHA:77297: Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
ORPHA:77298: Anophthalmia/microphthalmia-esophageal atresia syndrome
ORPHA:77298: MCOPS3
ORPHA:77298: Syndromic microphthalmia type 3
ORPHA:77299: Microphthalmia-brain atrophy syndrome
ORPHA:77299: MCOPS10
ORPHA:77299: MOBA syndrome
ORPHA:77299: Syndromic microphthalmia type 10
ORPHA:773: Refsum disease
ORPHA:773: Adult Refsum disease
ORPHA:773: Classic Refsum disease
ORPHA:773: HMSN 4
ORPHA:773: HMSN IV
ORPHA:773: Hereditary motor and sensory neuropathy type 4
ORPHA:773: Hereditary motor and sensory neuropathy type IV
ORPHA:773: Heredopathia atactica polyneuritiformis
ORPHA:773: Phytanic-CoA hydroxylase deficiency
ORPHA:77300: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
ORPHA:77301: Monosomy 9q22.3 syndrome
ORPHA:77301: Microdeletion 9q22.3
ORPHA:774: Hereditary hemorrhagic telangiectasia
ORPHA:774: HHT
ORPHA:774: Rendu-Osler disease
ORPHA:774: Rendu-Osler-Weber disease
ORPHA:776: Lujan-Fryns syndrome
ORPHA:776: X-linked intellectual disability with marfanoid habitus
ORPHA:777: X-linked non-syndromic intellectual disability
ORPHA:778: Rett syndrome
ORPHA:77828: Genetic obesity
ORPHA:77830: Rare genetic odontologic disease
ORPHA:779: Reynolds syndrome
ORPHA:779: Primary biliary cirrhosis and systemic scleroderma
ORPHA:78: Ankylostomiasis
ORPHA:78: Ancylostomiasis
ORPHA:78: Hookworm infection
ORPHA:780: Rhabdomyosarcoma
ORPHA:781: Q fever
ORPHA:781: Coxiellosis
ORPHA:781: Infection due to Coxiella burnetii
ORPHA:781: Nine Mile fever
ORPHA:781: Quadrilateral fever
ORPHA:781: Query fever
ORPHA:782: Axenfeld-Rieger syndrome
ORPHA:782: Axenfeld syndrome
ORPHA:782: Rieger syndrome
ORPHA:783: Rubinstein-Taybi syndrome
ORPHA:783: Broad thumb-hallux syndrome
ORPHA:783: Broad thumbs-halluces syndrome
ORPHA:785: Estrogen resistance syndrome
ORPHA:786: Generalized glucocorticoid resistance syndrome
ORPHA:79: Congenital alpha2-antiplasmin deficiency
ORPHA:790: Retinoblastoma
ORPHA:79062: Disorder of amino acid and other organic acid metabolism
ORPHA:79076: Juvenile polyposis of infancy
ORPHA:79076: Infantile juvenile polyposis syndrome
ORPHA:79078: IgG4-related dacryoadenitis and sialadenitis
ORPHA:79078: Chronic dacryoadenitis and sialadenitis
ORPHA:79078: Mikulicz disease
ORPHA:79083: PPARG-related familial partial lipodystrophy
ORPHA:79083: FPLD3
ORPHA:79083: Familial partial lipodystrophy type 3
ORPHA:79083: PPARG-related FPLD
ORPHA:79084: Familial partial lipodystrophy, Köbberling type
ORPHA:79084: FPLD1
ORPHA:79084: Familial partial lipodystrophy type 1
ORPHA:79085: AKT2-related familial partial lipodystrophy
ORPHA:79085: AKT2-related FPLD
ORPHA:79086: Acquired generalized lipodystrophy
ORPHA:79086: Acquired lipoatrophic diabetes
ORPHA:79086: Lawrence syndrome
ORPHA:79086: Lawrence-Seip syndrome
ORPHA:79087: Acquired partial lipodystrophy
ORPHA:79087: Barraquer-Simons syndrome
ORPHA:79087: Progressive cephalothoracic lipodystrophy
ORPHA:79088: Localized lipodystrophy
ORPHA:79091: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
ORPHA:79091: HIBM3
ORPHA:79091: Hereditary inclusion body myopathy type 3
ORPHA:79091: IBM3
ORPHA:79091: Inclusion body myopathy type 3
ORPHA:79093: Foix-Alajouanine syndrome
ORPHA:79093: Angiodysgenetic necrotizing myelopathy
ORPHA:79093: Familial osteosclerosis with abnormalities of the nervous system and meninges
ORPHA:79093: Subacute angiohypertrophic myelomalacia
ORPHA:79093: Subacute ascending necrotizing myelitis
ORPHA:79093: Subacute necrotizing myelitis
ORPHA:79094: Grange syndrome
ORPHA:79094: Grange occlusive arterial syndrome
ORPHA:79094: Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
ORPHA:79095: Congenital bile acid synthesis defect type 4
ORPHA:79095: 2-methylacyl-CoA racemase deficiency
ORPHA:79095: AMACR deficiency
ORPHA:79095: Alpha-methyl-acyl-CoA racemase deficiency
ORPHA:79095: BASD4
ORPHA:79095: Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
ORPHA:79096: Pyridoxal phosphate-responsive seizures
ORPHA:79096: PNPO deficiency
ORPHA:79096: PNPO-related neonatal epileptic encephalopathy
ORPHA:79096: Pyridoxal phosphate-dependent seizures
ORPHA:79096: Pyridoxamine 5'-oxidase deficiency
ORPHA:79096: Pyridoxamine 5'-phosphate oxidase deficiency
ORPHA:79097: Folinic acid-responsive seizures
ORPHA:79098: Sympathetic ophthalmia
ORPHA:79098: Sympathetic uveitis
ORPHA:79099: Interstitial granulomatous dermatitis with arthritis
ORPHA:79099: Ackerman dermatitis syndrome
ORPHA:79099: Ackerman syndrome
ORPHA:79099: IGDA
ORPHA:791: Retinitis pigmentosa
ORPHA:79100: Atrophoderma vermiculata
ORPHA:79100: Folliculitis ulerythematosa reticulate
ORPHA:79101: Hyperprolinemia type 2
ORPHA:79101: Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
ORPHA:79102: Thyrotoxic periodic paralysis
ORPHA:79102: Thyrotoxic hypokalemic periodic paralysis
ORPHA:79105: Myxofibrosarcoma
ORPHA:79105: Fibromyxosarcoma
ORPHA:79105: Myxoid malignant fibrous histiocytoma
ORPHA:79106: Eiken syndrome
ORPHA:79107: Developmental malformations-deafness-dystonia syndrome
ORPHA:79107: Developmental malformations-hearing loss-dystonia syndrome
ORPHA:79113: Mandibulofacial dysostosis-microcephaly syndrome
ORPHA:79113: MFDM syndrome
ORPHA:79113: Mandibulofacial dysostosis, Guion-Almeida type
ORPHA:79118: Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
ORPHA:79124: Hepatic veno-occlusive disease-immunodeficiency syndrome
ORPHA:79124: VODI syndrome
ORPHA:79126: Acute interstitial pneumonia
ORPHA:79126: Acute interstitial pneumonitis
ORPHA:79126: Hamman-Rich syndrome
ORPHA:79127: Respiratory bronchiolitis-interstitial lung disease syndrome
ORPHA:79127: RB-ILD
ORPHA:79128: Lymphoid interstitial pneumonia
ORPHA:79128: Lymphocytic interstitial pneumonia
ORPHA:79129: Trichodysplasia-amelogenesis imperfecta syndrome
ORPHA:79133: Focal facial dermal dysplasia type I
ORPHA:79133: Bitemporal aplasia cutis congenita
ORPHA:79133: Brauer syndrome
ORPHA:79133: FFDD type I
ORPHA:79133: FFDD1
ORPHA:79133: Focal facial dermal dysplasia 1, Brauer type
ORPHA:79133: Focal facial dermal dysplasia type 1
ORPHA:79134: DEND syndrome
ORPHA:79134: Developmental delay-epilepsy-neonatal diabetes syndrome
ORPHA:79135: Episodic ataxia type 3
ORPHA:79135: Episodic ataxia-vertigo-tinnitus-myokymia syndrome
ORPHA:79136: Episodic ataxia type 4
ORPHA:79136: PATX
ORPHA:79136: Periodic vestibulocerebellar ataxia
ORPHA:79137: Generalized epilepsy-paroxysmal dyskinesia syndrome
ORPHA:79137: GEPD
ORPHA:79138: Bickerstaff brainstem encephalitis
ORPHA:79139: Japanese encephalitis
ORPHA:79140: Cutaneous neuroendocrine carcinoma
ORPHA:79140: MCC
ORPHA:79140: Merkel cell carcinoma
ORPHA:79141: Hereditary painful callosities
ORPHA:79141: Keratosis palmoplantaris nummularis
ORPHA:79141: PPK nummularis
ORPHA:79141: Plamoplantar hyperkeratosis nummularis
ORPHA:79141: Plamoplantar keratoderma nummularis
ORPHA:79143: Isolated congenital anonychia
ORPHA:79143: Isolated anonychia
ORPHA:79144: Isolated congenital onychodysplasia
ORPHA:79144: COIF
ORPHA:79144: COIF syndrome
ORPHA:79144: Congenital onychodysplasia of the index fingers
ORPHA:79144: Iso-Kikuchi syndrome
ORPHA:79145: Dowling-Degos disease
ORPHA:79145: Reticular pigment anomaly of flexures
ORPHA:79146: Familial progressive hyperpigmentation
ORPHA:79146: Melanosis diffusa congenita
ORPHA:79146: Melanosis universalis hereditaria
ORPHA:79146: Universal melanosis
ORPHA:79147: Familial reactive perforating collagenosis
ORPHA:79148: Elastosis perforans serpiginosa
ORPHA:79149: Dermochondrocorneal dystrophy
ORPHA:79149: François syndrome
ORPHA:79150: Linear and whorled nevoid hypermelanosis
ORPHA:79150: LWNH
ORPHA:79151: Acrokeratosis verruciformis of Hopf
ORPHA:79151: AKV of Hopf
ORPHA:79152: Disseminated superficial actinic porokeratosis
ORPHA:79153: Idiopathic trachyonychia
ORPHA:79154: 2-aminoadipic 2-oxoadipic aciduria
ORPHA:79154: Alpha-aminoadipic aciduria
ORPHA:79155: Hydroxykynureninuria
ORPHA:79155: Kynureninase deficiency
ORPHA:79155: Xanthurenic aciduria
ORPHA:79156: Seizures-intellectual disability due to hydroxylysinuria syndrome
ORPHA:79157: 2-methylbutyryl-CoA dehydrogenase deficiency
ORPHA:79157: 2-methylbutyric aciduria
ORPHA:79157: Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
ORPHA:79157: SBCAD deficiency
ORPHA:79157: Short/branched-chain acyl-coA dehydrogenase deficiency
ORPHA:79158: Cerebral organic aciduria
ORPHA:79159: Isobutyryl-CoA dehydrogenase deficiency
ORPHA:79159: Isobutyric aciduria
ORPHA:79161: Disorder of carbohydrate metabolism
ORPHA:79163: Classic organic aciduria
ORPHA:79166: Disorder of amino acid absorption and transport
ORPHA:79167: Disorder of urea cycle metabolism and ammonia detoxification
ORPHA:79168: Disorder of bile acid synthesis
ORPHA:79169: Disorder of neurotransmitter metabolism and transport
ORPHA:79171: Disorder of cobalamin metabolism and transport
ORPHA:79172: Creatine deficiency syndrome
ORPHA:79172: CCDS
ORPHA:79172: CDS
ORPHA:79172: Cerebral creatine deficiency syndrome
ORPHA:79173: Disorder of methionine cycle and sulfur amino acid metabolism
ORPHA:79173: Cytosolic methyl group transfer or sulfur amino acid metabolism disorder
ORPHA:79174: Disorder of fatty acid oxidation and ketone body metabolism
ORPHA:79175: Disorder of gamma-aminobutyric acid metabolism
ORPHA:79175: Disorder of GABA metabolism
ORPHA:79177: Gluconeogenesis disorder
ORPHA:79178: Glucose transport disorder
ORPHA:79179: Disorder of glycerol metabolism
ORPHA:79181: Disorder of histidine metabolism
ORPHA:79183: Disorder of ketolysis
ORPHA:79185: Disorder of ornithine or proline metabolism
ORPHA:79186: Disorder of pentose phosphate metabolism
ORPHA:79187: Disorder of peptide metabolism
ORPHA:79188: Peroxisomal beta-oxidation disorder
ORPHA:79189: Peroxisome biogenesis disorder
ORPHA:79189: PBD-ZSD
ORPHA:79189: Peroxisome biogenesis disorder spectrum
ORPHA:79189: Peroxisome biogenesis disorder-Zellweger spectrum disorder
ORPHA:79190: Disorder of phenylalanin or tyrosine metabolism
ORPHA:79191: Disorder of purine metabolism
ORPHA:79192: Disorder of pyridoxine metabolism
ORPHA:79193: Disorder of pyrimidine metabolism
ORPHA:79194: Disorder of serine or glycine metabolism
ORPHA:79195: Sterol biosynthesis disorder
ORPHA:79196: Disorder of the gamma-glutamyl cycle
ORPHA:79197: Disorder of branched-chain amino acid metabolism
ORPHA:792: X-linked retinoschisis
ORPHA:792: X-linked juvenile retinoschisis
ORPHA:792: XLRS
ORPHA:79200: Disorder of energy metabolism
ORPHA:79201: Glycogen storage disease
ORPHA:79201: GSD
ORPHA:79201: Glycogenosis
ORPHA:79204: Lipid storage disease
ORPHA:79207: Disorder of lysosomal amino acid transport
ORPHA:79212: Mucolipidosis
ORPHA:79213: Mucopolysaccharidosis
ORPHA:79214: Disorder of biogenic amine metabolism and transport
ORPHA:79215: Oligosaccharidosis
ORPHA:79217: Other metabolic disease with skin involvement
ORPHA:79219: Metabolic disease involving other neurotransmitter deficiency
ORPHA:79224: Disorder of purine or pyrimidine metabolism
ORPHA:79225: Sphingolipidosis
ORPHA:79226: Sterol metabolism disorder
ORPHA:79230: HJV or HAMP-related hemochromatosis
ORPHA:79230: Hemochromatosis type 2
ORPHA:79230: Juvenile hemochromatosis
ORPHA:79233: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
ORPHA:79233: HPRT deficiency, grade I
ORPHA:79233: HPRT partial deficiency
ORPHA:79233: HPRT-related gout
ORPHA:79233: HPRT-related hyperuricemia
ORPHA:79233: HPRT1 partial deficiency
ORPHA:79233: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
ORPHA:79233: Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
ORPHA:79233: Kelley-Seegmiller syndrome
ORPHA:79234: Crigler-Najjar syndrome type 1
ORPHA:79234: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
ORPHA:79234: Bilirubin-UGT deficiency type 1
ORPHA:79235: Crigler-Najjar syndrome type 2
ORPHA:79235: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
ORPHA:79235: Bilirubin-UGT deficiency type 2
ORPHA:79237: Galactokinase deficiency
ORPHA:79237: GALK deficiency
ORPHA:79237: GALK-D
ORPHA:79237: Galactokinase deficiency galactosemia
ORPHA:79237: Galactosemia type 2
ORPHA:79238: Galactose epimerase deficiency
ORPHA:79238: Epimerase deficiency galactosemia
ORPHA:79238: GALE deficiency
ORPHA:79238: GALE-D
ORPHA:79238: Galactosemia type 3
ORPHA:79238: UDP-galactose-4-epimerase deficiency
ORPHA:79238: Uridine diphosphate galactose-4-epimerase deficiency
ORPHA:79239: Classic galactosemia
ORPHA:79239: GALT deficiency