TaoMedAI/RareMedData huggingface dataset:
ORPHA:79239: Galactose-1-phosphate uridyltransferase deficiency
ORPHA:79239: Galactosemia type 1
ORPHA:79240: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
ORPHA:79240: GSD due to liver and muscle phosphorylase kinase deficiency
ORPHA:79240: GSD type 9B
ORPHA:79240: GSD type IXb
ORPHA:79240: Glycogen storage disease type 9B
ORPHA:79240: Glycogen storage disease type IXb
ORPHA:79240: Glycogenosis due to liver and muscle phosphorylase kinase deficiency
ORPHA:79240: Glycogenosis type 9B
ORPHA:79240: Glycogenosis type IXb
ORPHA:79241: Biotinidase deficiency
ORPHA:79241: Juvenile-onset multiple carboxylase deficiency
ORPHA:79241: Late-onset multiple carboxylase deficiency
ORPHA:79242: Holocarboxylase synthetase deficiency
ORPHA:79242: Early-onset multiple carboxylase deficiency
ORPHA:79242: Neonatal multiple carboxylase deficiency
ORPHA:79243: Pyruvate dehydrogenase E1-alpha deficiency
ORPHA:79243: PDHAD
ORPHA:79243: Pyruvate decarboxylase deficiency
ORPHA:79243: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
ORPHA:79244: Pyruvate dehydrogenase E2 deficiency
ORPHA:79244: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
ORPHA:79244: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
ORPHA:79244: Pyruvate dehydrogenase complex component E2 deficiency
ORPHA:79246: Pyruvate dehydrogenase phosphatase deficiency
ORPHA:79246: PDH phosphatase deficiency
ORPHA:79253: Mild phenylketonuria
ORPHA:79253: Mild PKU
ORPHA:79253: Variant PKU
ORPHA:79253: Variant phenylketonuria
ORPHA:79253: mPKU
ORPHA:79254: Classic phenylketonuria
ORPHA:79254: Classic PKU
ORPHA:79255: GM1 gangliosidosis type 1
ORPHA:79255: Infantile GM1 gangliosidosis
ORPHA:79255: Norman-Landing disease
ORPHA:79256: GM1 gangliosidosis type 2
ORPHA:79256: Juvenile GM1 gangliosidosis
ORPHA:79256: Late-infantile GM1 gangliosidosis
ORPHA:79257: GM1 gangliosidosis type 3
ORPHA:79257: Adult-onset GM1 gangliosidosis
ORPHA:79258: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
ORPHA:79258: G6P deficiency type 1a
ORPHA:79258: GSD due to G6P deficiency type 1a
ORPHA:79258: GSD due to G6P deficiency type Ia
ORPHA:79258: GSD type 1a
ORPHA:79258: GSDIa
ORPHA:79258: Glycogen storage disease due to G6P deficiency type Ia
ORPHA:79258: Glycogen storage disease type 1a
ORPHA:79258: Glycogenosis due to glucose-6-phosphatase deficiency type 1a
ORPHA:79258: Glycogenosis due to glucose-6-phosphatase deficiency type Ia
ORPHA:79258: Glycogenosis type Ia
ORPHA:79259: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
ORPHA:79259: G6P deficiency type Ib
ORPHA:79259: G6P translocase deficiency
ORPHA:79259: G6PT deficiency
ORPHA:79259: GSD due to G6P deficiency type 1b
ORPHA:79259: GSD due to G6P deficiency type Ib
ORPHA:79259: GSD due to G6PT deficiency
ORPHA:79259: GSD type 1 non a
ORPHA:79259: GSD type 1b
ORPHA:79259: GSD type Ib
ORPHA:79259: GSDIb
ORPHA:79259: Glycogen storage disease due to G6P deficiency type Ib
ORPHA:79259: Glycogen storage disease type 1b
ORPHA:79259: Glycogen storage disease type Ib
ORPHA:79259: Glycogenosis due to glucose-6-phosphatase deficiency type 1b
ORPHA:79259: Glycogenosis due to glucose-6-phosphatase transport defect type Ib
ORPHA:79259: Glycogenosis type 1b
ORPHA:79259: Glycogenosis type Ib
ORPHA:79269: Sanfilippo syndrome type A
ORPHA:79269: Heparan sulfamidase deficiency
ORPHA:79269: MPS3A
ORPHA:79269: MPSIIIA
ORPHA:79269: Mucopolysaccharidosis type 3A
ORPHA:79269: Mucopolysaccharidosis type IIIA
ORPHA:79270: Sanfilippo syndrome type B
ORPHA:79270: MPS3B
ORPHA:79270: MPSIIIB
ORPHA:79270: Mucopolysaccharidosis type 3B
ORPHA:79270: Mucopolysaccharidosis type IIIB
ORPHA:79270: N-acetyl-alpha-glucosaminidase deficiency
ORPHA:79271: Sanfilippo syndrome type C
ORPHA:79271: HGSNAT deficiency
ORPHA:79271: Heparan-alpha-glucosaminide N-acetyltransferase deficiency
ORPHA:79271: MPS3C
ORPHA:79271: MPSIIIC
ORPHA:79271: Mucopolysaccharidosis type 3C
ORPHA:79271: Mucopolysaccharidosis type IIIC
ORPHA:79272: Sanfilippo syndrome type D
ORPHA:79272: GNS deficiency
ORPHA:79272: Glucosamine N-acetyl-6-sulfatase deficiency
ORPHA:79272: MPS3D
ORPHA:79272: MPSIIID
ORPHA:79272: Mucopolysaccharidosis type 3D
ORPHA:79272: Mucopolysaccharidosis type IIID
ORPHA:79273: Hereditary coproporphyria
ORPHA:79276: Acute intermittent porphyria
ORPHA:79277: Congenital erythropoietic porphyria
ORPHA:79277: CEP
ORPHA:79277: Günther disease
ORPHA:79278: Autosomal erythropoietic protoporphyria
ORPHA:79278: EPP
ORPHA:79279: Alpha-N-acetylgalactosaminidase deficiency type 1
ORPHA:79279: NAGA deficiency type 1
ORPHA:79279: Schindler disease type 1
ORPHA:79280: Alpha-N-acetylgalactosaminidase deficiency type 2
ORPHA:79280: Adult-onset Alpha-N-acetylgalactosaminidase deficiency
ORPHA:79280: Kanzaki disease
ORPHA:79280: NAGA deficiency type 2
ORPHA:79280: Schindler disease type 2
ORPHA:79281: Alpha-N-acetylgalactosaminidase deficiency type 3
ORPHA:79281: NAGA deficiency type 3
ORPHA:79281: Schindler disease type 3
ORPHA:79282: Methylmalonic acidemia with homocystinuria, type cblC
ORPHA:79282: CblC defect
ORPHA:79282: Cobalamin C defect
ORPHA:79282: Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
ORPHA:79282: Methylmalonic aciduria with homocystinuria, type cblC
ORPHA:79283: Methylmalonic acidemia with homocystinuria, type cblD
ORPHA:79283: CblD defect
ORPHA:79283: Cobalamin D defect
ORPHA:79283: Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
ORPHA:79283: Methylmalonic aciduria with homocystinuria, type cblD
ORPHA:79284: Methylmalonic acidemia with homocystinuria type cblF
ORPHA:79284: CblF defect
ORPHA:79284: Cobalamin F defect
ORPHA:79284: Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
ORPHA:79284: Lysosomal membrane cobalamin transporter deficiency
ORPHA:79284: Methylmalonic aciduria with homocystinuria, type cblF
ORPHA:79292: Fish-eye disease
ORPHA:79292: FED
ORPHA:79292: Partial LCAT deficiency
ORPHA:79293: Familial LCAT deficiency
ORPHA:79293: Complete LCAT deficiency
ORPHA:79293: FLD
ORPHA:79293: Norum disease
ORPHA:79298: Diazoxide-resistant focal hyperinsulinism
ORPHA:79298: Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form
ORPHA:79299: Congenital glucokinase-related hyperinsulinism
ORPHA:79299: Glucokinase-related hyperinsulinemic hypoglycemia
ORPHA:793: SAPHO syndrome
ORPHA:793: Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
ORPHA:79301: Congenital bile acid synthesis defect type 1
ORPHA:79301: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
ORPHA:79301: BASD1
ORPHA:79302: Congenital bile acid synthesis defect type 3
ORPHA:79302: BASD3
ORPHA:79302: Oxysterol 7-alpha-hydroxylase deficiency
ORPHA:79303: Congenital bile acid synthesis defect type 2
ORPHA:79303: BASD2
ORPHA:79303: Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
ORPHA:79304: Progressive familial intrahepatic cholestasis type 2
ORPHA:79304: BSEP deficiency
ORPHA:79304: PFIC2
ORPHA:79305: Progressive familial intrahepatic cholestasis type 3
ORPHA:79305: PFIC3
ORPHA:79306: Progressive familial intrahepatic cholestasis type 1
ORPHA:79306: Byler disease
ORPHA:79306: FIC1 deficiency
ORPHA:79306: PFIC1
ORPHA:79310: Vitamin B12-responsive methylmalonic acidemia type cblA
ORPHA:79310: Vitamin B12-responsive methylmalonic aciduria type cblA
ORPHA:79311: Vitamin B12-responsive methylmalonic acidemia type cblB
ORPHA:79311: Vitamin B12-responsive methylmalonic aciduria, type cblB
ORPHA:79312: Vitamin B12-unresponsive methylmalonic acidemia type mut-
ORPHA:79312: Partial deficiency of methylmalonyl-CoA mutase
ORPHA:79312: Vitamin B12-unresponsive methylmalonic aciduria type mut-
ORPHA:79314: L-2-hydroxyglutaric aciduria
ORPHA:79314: L-2-HGA
ORPHA:79314: L-2-hydroxyglutaric acidemia
ORPHA:79315: D-2-hydroxyglutaric aciduria
ORPHA:79315: D-2-HGA
ORPHA:79315: D-2-hydroxyglutaric acidemia
ORPHA:79318: PMM2-CDG
ORPHA:79318: CDG syndrome type Ia
ORPHA:79318: CDG-Ia
ORPHA:79318: CDG1A
ORPHA:79318: Carbohydrate deficient glycoprotein syndrome type Ia
ORPHA:79318: Congenital disorder of glycosylation type 1a
ORPHA:79318: Congenital disorder of glycosylation type Ia
ORPHA:79318: Phosphomannomutase 2 deficiency
ORPHA:79319: MPI-CDG
ORPHA:79319: CDG syndrome type Ib
ORPHA:79319: CDG-Ib
ORPHA:79319: CDG1B
ORPHA:79319: Carbohydrate deficient glycoprotein syndrome type Ib
ORPHA:79319: Congenital disorder of glycosylation type 1b
ORPHA:79319: Congenital disorder of glycosylation type Ib
ORPHA:79319: Phosphomannose isomerase deficiency
ORPHA:79320: ALG6-CDG
ORPHA:79320: CDG syndrome type Ic
ORPHA:79320: CDG-Ic
ORPHA:79320: CDG1C
ORPHA:79320: Carbohydrate deficient glycoprotein syndrome type Ic
ORPHA:79320: Congenital disorder of glycosylation type 1c
ORPHA:79320: Congenital disorder of glycosylation type Ic
ORPHA:79320: Glucosyltransferase 1 deficiency
ORPHA:79321: ALG3-CDG
ORPHA:79321: CDG syndrome type Id
ORPHA:79321: CDG-Id
ORPHA:79321: CDG1D
ORPHA:79321: Carbohydrate deficient glycoprotein syndrome type Id
ORPHA:79321: Congenital disorder of glycosylation type 1d
ORPHA:79321: Congenital disorder of glycosylation type Id
ORPHA:79321: Mannosyltransferase 6 deficiency
ORPHA:79322: DPM1-CDG
ORPHA:79322: CDG syndrome type Ie
ORPHA:79322: CDG-Ie
ORPHA:79322: CDG1E
ORPHA:79322: Carbohydrate deficient glycoprotein syndrome type Ie
ORPHA:79322: Congenital disorder of glycosylation type 1e
ORPHA:79322: Congenital disorder of glycosylation type Ie
ORPHA:79322: Dol-P-mannosyltransferase deficiency
ORPHA:79323: MPDU1-CDG
ORPHA:79323: CDG syndrome type If
ORPHA:79323: CDG-If
ORPHA:79323: CDG1F
ORPHA:79323: Carbohydrate deficient glycoprotein syndrome type If
ORPHA:79323: Congenital disorder of glycosylation type 1f
ORPHA:79323: Congenital disorder of glycosylation type If
ORPHA:79324: ALG12-CDG
ORPHA:79324: CDG syndrome type Ig
ORPHA:79324: CDG-Ig
ORPHA:79324: CDG1G
ORPHA:79324: Carbohydrate deficient glycoprotein syndrome type Ig
ORPHA:79324: Congenital disorder of glycosylation type 1g
ORPHA:79324: Congenital disorder of glycosylation type Ig
ORPHA:79324: Mannosyltransferase 8 deficiency
ORPHA:79325: ALG8-CDG
ORPHA:79325: CDG syndrome type Ih
ORPHA:79325: CDG-Ih
ORPHA:79325: CDG1H
ORPHA:79325: Carbohydrate deficient glycoprotein syndrome type Ih
ORPHA:79325: Congenital disorder of glycosylation type 1h
ORPHA:79325: Congenital disorder of glycosylation type Ih
ORPHA:79325: Glucosyltransferase 2 deficiency
ORPHA:79326: ALG2-CDG
ORPHA:79326: CDG syndrome type Ii
ORPHA:79326: CDG-Ii
ORPHA:79326: CDG1I
ORPHA:79326: Carbohydrate deficient glycoprotein syndrome type Ii
ORPHA:79326: Congenital disorder of glycosylation type 1i
ORPHA:79326: Congenital disorder of glycosylation type Ii
ORPHA:79326: Mannosyltransferase 2 deficiency
ORPHA:79327: ALG1-CDG
ORPHA:79327: CDG syndrome type Ik
ORPHA:79327: CDG-Ik
ORPHA:79327: CDG1K
ORPHA:79327: Carbohydrate deficient glycoprotein syndrome type Ik
ORPHA:79327: Congenital disorder of glycosylation type 1k
ORPHA:79327: Congenital disorder of glycosylation type Ik
ORPHA:79327: Mannosyltransferase 1 deficiency
ORPHA:79328: ALG9-CDG
ORPHA:79328: CDG syndrome type IL
ORPHA:79328: CDG-IL
ORPHA:79328: CDG1L
ORPHA:79328: Carbohydrate deficient glycoprotein syndrome type IL
ORPHA:79328: Congenital disorder of glycosylation type 1L
ORPHA:79328: Mannosyltransferase 7-9 deficiency
ORPHA:79329: MGAT2-CDG
ORPHA:79329: CDG syndrome type IIa
ORPHA:79329: CDG-IIa
ORPHA:79329: CDG2A
ORPHA:79329: Carbohydrate deficient glycoprotein syndrome type IIa
ORPHA:79329: Congenital disorder of glycosylation type 2a
ORPHA:79329: Congenital disorder of glycosylation type IIa
ORPHA:79329: N-acetylglucosaminyltransferase 2 deficiency
ORPHA:79330: MOGS-CDG
ORPHA:79330: CDG syndrome type IIb
ORPHA:79330: CDG-IIb
ORPHA:79330: CDG2B
ORPHA:79330: Carbohydrate deficient glycoprotein syndrome type IIb
ORPHA:79330: Congenital disorder of glycosylation type 2b
ORPHA:79330: Congenital disorder of glycosylation type IIb
ORPHA:79330: Glucosidase 1 deficiency
ORPHA:79332: B4GALT1-CDG
ORPHA:79332: Beta-1,4-galactosyltransferase deficiency
ORPHA:79332: CDG syndrome type IId
ORPHA:79332: CDG-IId
ORPHA:79332: CDG2D
ORPHA:79332: Carbohydrate deficient glycoprotein syndrome type IId
ORPHA:79332: Congenital disorder of glycosylation type 2d
ORPHA:79332: Congenital disorder of glycosylation type IId
ORPHA:79333: COG7-CDG
ORPHA:79333: CDG syndrome type IIe
ORPHA:79333: CDG-IIe
ORPHA:79333: CDG2E
ORPHA:79333: Carbohydrate deficient glycoprotein syndrome type IIe
ORPHA:79333: Congenital disorder of glycosylation type 2e
ORPHA:79333: Congenital disorder of glycosylation type IIe
ORPHA:79345: Brachytelephalangic chondrodysplasia punctata
ORPHA:79346: Chondrodysplasia punctata, tibial-metacarpal type
ORPHA:79347: Chondrodysplasia punctata, Toriello type
ORPHA:79347: Toriello-Higgins-Miller syndrome
ORPHA:79350: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
ORPHA:79350: PSPH deficiency, infantile/juvenile form
ORPHA:79351: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
ORPHA:79351: PHGDH deficiency, infantile/juvenile form
ORPHA:79353: Epidermal disease
ORPHA:79354: Ichthyosis
ORPHA:79355: Erythrokeratoderma
ORPHA:79356: Acrokeratoderma
ORPHA:79357: Hereditary palmoplantar keratoderma
ORPHA:79357: Hereditary PPK
ORPHA:79357: Hereditary keratosis palmoplantaris
ORPHA:79357: Hereditary palmoplantar hyperkeratosis
ORPHA:79358: Porokeratosis
ORPHA:79359: Other epidermal disorder
ORPHA:79360: Other genetic epidermal disease
ORPHA:79361: Inherited epidermolysis bullosa
ORPHA:79361: Epidermolysis bullosa hereditaria
ORPHA:79361: Hereditary epidermolysis bullosa
ORPHA:79362: Epidermal appendage anomaly
ORPHA:79363: Hair anomaly
ORPHA:79364: Alopecia
ORPHA:79365: Rare disorder with hypertrichosis
ORPHA:79366: Isolated hair shaft abnormality
ORPHA:79367: Syndromic hair shaft abnormality
ORPHA:79368: Nail anomaly
ORPHA:79369: Isolated nail anomaly
ORPHA:79370: Syndromic nail anomaly
ORPHA:79372: Sebaceous gland anomaly
ORPHA:79373: Ectodermal dysplasia syndrome
ORPHA:79373: Ectodermal dysplasia
ORPHA:79374: Pigmentation anomaly of the skin
ORPHA:79375: Hyperpigmentation of the skin
ORPHA:79376: Hypopigmentation of the skin
ORPHA:79377: Dermis disorder
ORPHA:79378: Dermis elastic tissue disorder
ORPHA:79379: Skin vascular disease
ORPHA:79380: Mixed dermis disorder
ORPHA:79381: Other dermis disorder
ORPHA:79382: Subcutaneous tissue disease
ORPHA:79384: Rare urticaria
ORPHA:79385: Unclassified genetic skin disorder
ORPHA:79386: Rare skin tumor or hamartoma
ORPHA:79387: Metabolic disease with skin involvement
ORPHA:79388: Mucopolysaccharidosis with skin involvement
ORPHA:79388: MPS with skin involvement
ORPHA:79389: Premature aging
ORPHA:79390: Rare photodermatosis
ORPHA:79390: Rare skin photosensitivity
ORPHA:79391: Immune deficiency with skin involvement
ORPHA:79394: Congenital ichthyosiform erythroderma
ORPHA:79394: CIE
ORPHA:79394: Erythrodermic ichthyosis
ORPHA:79394: Non-bullous congenital ichthyosiform erythroderma
ORPHA:79395: Keratoderma hereditarium mutilans with ichthyosis
ORPHA:79395: Camisa disease
ORPHA:79395: Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
ORPHA:79395: Loricrin keratoderma
ORPHA:79395: Vohwinkel syndrome with ichthyosis
ORPHA:79396: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
ORPHA:79396: Autosomal dominant generalized EBS, severe form
ORPHA:79396: Epidermolysis bullosa simplex herpetiformis
ORPHA:79396: Epidermolysis bullosa simplex, Dowling-Meara type
ORPHA:79397: Epidermolysis bullosa simplex with mottled pigmentation
ORPHA:79397: EBS with mottled pigmentation
ORPHA:79397: EBS-MP
ORPHA:79399: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
ORPHA:79399: Autosomal dominant generalized EBS, intermediate form
ORPHA:79399: Epidermolysis bullosa simplex, Koebner type
ORPHA:79399: Epidermolysis bullosa simplex, Köbner type
ORPHA:794: Saethre-Chotzen syndrome
ORPHA:794: ACS3
ORPHA:794: Acrocephalosyndactyly type 3
ORPHA:794: SCS
ORPHA:79400: Localized epidermolysis bullosa simplex
ORPHA:79400: EBS-loc
ORPHA:79400: Epidermolysis bullosa simplex of palms and soles
ORPHA:79400: Epidermolysis bullosa simplex, Weber-Cockayne type
ORPHA:79400: Localized EBS
ORPHA:79401: PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
ORPHA:79401: PLEC-related intermediate EBS without extracutaneous involvement
ORPHA:79402: Intermediate generalized junctional epidermolysis bullosa
ORPHA:79402: Generalized atrophic benign epidermolysis bullosa
ORPHA:79402: Generalized junctional epidermolysis bullosa, non-Herlitz type
ORPHA:79402: Intermediate generalized JEB
ORPHA:79402: Junctional epidermolysis bullosa generalisata mitis
ORPHA:79402: Junctional epidermolysis bullosa, Disentis type
ORPHA:79403: Junctional epidermolysis bullosa with pyloric atresia
ORPHA:79403: Carmi syndrome
ORPHA:79403: JEB with pyloric atresia
ORPHA:79403: JEB-PA
ORPHA:79404: Severe generalized junctional epidermolysis bullosa
ORPHA:79404: Epidermolysis bullosa letalis
ORPHA:79404: JEB-H
ORPHA:79404: Junctional epidermolysis bullosa generalisata gravis
ORPHA:79404: Junctional epidermolysis bullosa, Herlitz type
ORPHA:79404: Junctional epidermolysis bullosa, Herlitz-Pearson type
ORPHA:79404: Severe generalized JEB
ORPHA:79405: Junctional epidermolysis bullosa inversa
ORPHA:79405: JEB inversa
ORPHA:79405: JEB-I
ORPHA:79406: Late-onset junctional epidermolysis bullosa
ORPHA:79406: Epidermolysis bullosa progressiva
ORPHA:79406: JEB-lo
ORPHA:79406: Late-onset JEB
ORPHA:79408: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
ORPHA:79408: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
ORPHA:79408: Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
ORPHA:79408: Generalized RDEB, severe form
ORPHA:79408: RDEB generalisata gravis
ORPHA:79408: RDEB, Hallopeau-Siemens type
ORPHA:79408: Severe generalized RDEB
ORPHA:79409: Recessive dystrophic epidermolysis bullosa inversa
ORPHA:79409: RDEB inversa
ORPHA:79409: RDEB-I
ORPHA:79410: Localized dystrophic epidermolysis bullosa, pretibial form
ORPHA:79410: DEB-Pt
ORPHA:79410: Localized DEB, pretibial form
ORPHA:79411: Self-improving dystrophic epidermolysis bullosa
ORPHA:79411: Self-improving DEB
ORPHA:79411: Transient bullous dermolysis of the newborn
ORPHA:79414: Woolly hair nevus
ORPHA:79414: Wooly hair nevus
ORPHA:79430: Hermansky-Pudlak syndrome
ORPHA:79430: HPS
ORPHA:79431: Oculocutaneous albinism type 1A
ORPHA:79431: OCA1A
ORPHA:79431: Tyrosinase-negative oculocutaneous albinism
ORPHA:79432: Oculocutaneous albinism type 2
ORPHA:79432: OCA2
ORPHA:79433: Oculocutaneous albinism type 3
ORPHA:79433: OCA3
ORPHA:79433: Red oculocutaneous albinism
ORPHA:79433: Rufous oculocutaneous albinism
ORPHA:79433: Xanthous oculocutaneous albinism
ORPHA:79434: Oculocutaneous albinism type 1B
ORPHA:79434: OCA1B
ORPHA:79434: Oculocutaneous albinism, Amish type
ORPHA:79434: Platinum oculocutaneous albinism
ORPHA:79434: Yellow oculocutaneous albinism
ORPHA:79435: Oculocutaneous albinism type 4
ORPHA:79435: OCA4
ORPHA:79443: Pseudohypoparathyroidism type 1A
ORPHA:79443: AHO-PHP syndrome Ia
ORPHA:79443: Albright hereditary osteodystrophy-PHP syndrome Ia
ORPHA:79444: Pseudohypoparathyroidism type 1C
ORPHA:79445: Pseudopseudohypoparathyroidism
ORPHA:79445: AHO-PPHP syndrome
ORPHA:79445: Albright hereditary osteodystrophy-PPHP syndrome
ORPHA:79447: X-linked lethal multiple pterygium syndrome
ORPHA:79452: Milroy disease
ORPHA:79452: Hereditary lymphedema type I
ORPHA:79452: Nonne-Milroy lymphedema
ORPHA:79455: Cutaneous mastocytoma
ORPHA:79455: Cutaneous local mastocytoma
ORPHA:79455: Multiple mastocytoma
ORPHA:79455: Solitary mastocytoma
ORPHA:79456: Diffuse cutaneous mastocytosis
ORPHA:79456: DCM
ORPHA:79456: Diffuse cutaneous maculopapulous mastocytosis
ORPHA:79457: Maculopapular cutaneous mastocytosis
ORPHA:79457: Urticaria pigmentosa
ORPHA:79466: Inflammatory linear verrucous epidermal nevus
ORPHA:79466: ILVEN
ORPHA:79467: Verrucous nevus
ORPHA:79468: Acanthokeratolytic verrucous nevus
ORPHA:79473: Variegate porphyria
ORPHA:79473: Porphyria variegata
ORPHA:79473: Protoporphyrinogen oxidase deficiency
ORPHA:79474: Atypical Werner syndrome
ORPHA:79474: Atypical progeroid syndrome
ORPHA:79476: Griscelli syndrome type 1
ORPHA:79476: Griscelli-Pruniéras syndrome type 1
ORPHA:79476: Hypopigmentation-neurologic impairment syndrome
ORPHA:79477: Griscelli syndrome type 2
ORPHA:79477: Griscelli-Pruniéras syndrome type 2
ORPHA:79477: Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
ORPHA:79478: Griscelli syndrome type 3
ORPHA:79478: Griscelli-Pruniéras syndrome type 3
ORPHA:79479: Pemphigus vegetans
ORPHA:79480: Pemphigus erythematosus
ORPHA:79480: Seborrheic pemphigus
ORPHA:79480: Senear-Usher syndrome
ORPHA:79481: Pemphigus foliaceus
ORPHA:79483: Phakomatosis cesioflammea
ORPHA:79483: Phakomatosis pigmentovascularis type 2
ORPHA:79484: Phakomatosis cesiomarmorata
ORPHA:79484: Phakomatosis pigmentovascularis type 5
ORPHA:79485: Phakomatosis spilorosea
ORPHA:79485: Phakomatosis pigmentovascularis type 3
ORPHA:79489: Macrocystic lymphatic malformation
ORPHA:79489: Cavernous lymphangioma
ORPHA:79489: Cavernous lymphatic malformation
ORPHA:79489: Macrocystic lymphangioma
ORPHA:79490: Microcystic lymphatic malformation
ORPHA:79490: Capillary lymphangioma
ORPHA:79490: Capillary lymphatic malformation
ORPHA:79490: Cutaneous lymphangioma circumscriptum
ORPHA:79490: Microcystic infiltrating lymphatic malformation
ORPHA:79490: Microcystic lymphangioma
ORPHA:79490: Superficial lymphangioma
ORPHA:79490: Superficial lymphatic malformation
ORPHA:79492: Pili gemini
ORPHA:79492: Pili multigemini
ORPHA:79493: Brooke-Spiegler syndrome
ORPHA:79493: CYLD cutaneous syndrome
ORPHA:79495: X-linked congenital generalized hypertrichosis
ORPHA:79495: Congenital generalized hypertrichosis, Macias-Flores type
ORPHA:79495: Macias Flores-Garcia Cruz-Rivera syndrome
ORPHA:79499: Autosomal dominant deafness-onychodystrophy syndrome
ORPHA:79499: Autosomal dominant hearing loss-onychodystrophy syndrome
ORPHA:79499: DDOD syndrome
ORPHA:795: Rare form of salmonellosis
ORPHA:79500: DOORS syndrome
ORPHA:79500: Autosomal recessive deafness-onychodystrophy syndrome
ORPHA:79500: Autosomal recessive hearing loss-onychodystrophy syndrome
ORPHA:79500: DOOR syndrome
ORPHA:79500: Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
ORPHA:79500: Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
ORPHA:79500: Deafness-onychoosteodystrophy-intellectual disability syndrome
ORPHA:79500: Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
ORPHA:79500: Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
ORPHA:79500: Hearing loss-onychoosteodystrophy-intellectual disability syndrome
ORPHA:79501: Punctate palmoplantar keratoderma type 1
ORPHA:79501: Buschke-Fischer-Brauer syndrome
ORPHA:79501: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
ORPHA:79501: PPKP1
ORPHA:79502: Punctate palmoplantar keratoderma type 2
ORPHA:79502: PPKP2
ORPHA:79502: PPPP
ORPHA:79502: Porokeratosis punctata palmaris et plantaris
ORPHA:79502: Punctate palmoplantar hyperkeratosis type 2
ORPHA:79503: Ichthyosis hystrix of Curth-Macklin
ORPHA:79503: Ichthyosis hystrix, Curth-Macklin type
ORPHA:79507: Hypotonia-failure to thrive-microcephaly syndrome
ORPHA:79507: LTC4 synthase deficiency
ORPHA:79507: Leukotriene C4 synthase deficiency
ORPHA:796: Sandhoff disease
ORPHA:79643: Autosomal recessive hyperinsulinism due to SUR1 deficiency
ORPHA:79643: Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
ORPHA:79644: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
ORPHA:79644: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
ORPHA:79651: Mild hyperphenylalaninemia
ORPHA:79651: Mild HPA
ORPHA:79651: Non-PKU HPA
ORPHA:79651: mHPA
ORPHA:79665: Gardner syndrome
ORPHA:79669: Autoimmune bullous skin disease
ORPHA:797: Sarcoidosis
ORPHA:797: Besnier-Boeck-Schaumann disease
ORPHA:797: Boeck sarcoid
ORPHA:798: Schinzel-Giedion syndrome