Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

28 matching diseasesClear search ×

OBSOLETE: Gastric neuroendocrine tumor type 2

OBSOLETE: GNET type 2

ORPHA:481475

OBSOLETE: Arnold-Chiari malformation type II

OBSOLETE: Arnold-Chiari malformation type 2 · OBSOLETE: Chiari malformation type 2

ORPHA:1136

OBSOLETE: Autoimmune enteropathy type 2

ORPHA:103916

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

ORPHA:71269

OBSOLETE: Cataract, Hutterite type

ORPHA:98987

OBSOLETE: Cobblestone lissencephaly type A

OBSOLETE: Lissencephaly type 2A

ORPHA:352694

OBSOLETE: Cobblestone lissencephaly type B

OBSOLETE: Lissencephaly type 2B

ORPHA:352704

OBSOLETE: Cobblestone lissencephaly type C

OBSOLETE: Lissencephaly type 2C

ORPHA:352699

OBSOLETE: Ehlers-Danlos syndrome type 2

OBSOLETE: EDS II

ORPHA:90318

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

ORPHA:209886

OBSOLETE: Gastric neuroendocrine tumor type 1

OBSOLETE: GNET type 1

ORPHA:481469

OBSOLETE: Gastric neuroendocrine tumor type 3

OBSOLETE: GNET type 3

ORPHA:481478

OBSOLETE: Gastric neuroendocrine tumor type 4

OBSOLETE: GNET type 4

ORPHA:481481

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

ORPHA:308604

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

ORPHA:308573

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

ORPHA:139491

OBSOLETE: Hemochromatosis type 5

ORPHA:447792

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

ORPHA:70470

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

ORPHA:93686

OBSOLETE: Uniparental disomy of chromosome 20

OBSOLETE: UPD(20)

ORPHA:263059

OBSOLETE: Uniparental disomy of chromosome 21

OBSOLETE: UPD(21)

ORPHA:263064

OBSOLETE: Xeroderma pigmentosum complementation group A

OBSOLETE: XPA

ORPHA:276249

OBSOLETE: Xeroderma pigmentosum complementation group B

OBSOLETE: XPB

ORPHA:276252

OBSOLETE: Xeroderma pigmentosum complementation group C

OBSOLETE: XPC

ORPHA:276255

OBSOLETE: Xeroderma pigmentosum complementation group D

OBSOLETE: XPD

ORPHA:276258

OBSOLETE: Xeroderma pigmentosum complementation group E

OBSOLETE: XPE

ORPHA:276261

OBSOLETE: Xeroderma pigmentosum complementation group F

OBSOLETE: XPF

ORPHA:276264

OBSOLETE: Xeroderma pigmentosum complementation group G

OBSOLETE: XPG

ORPHA:276267