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"

20 matching diseasesClear search ×

OBSOLETE: Cobblestone lissencephaly type A

OBSOLETE: Lissencephaly type 2A

ORPHA:352694

Classic lissencephaly

Lissencephaly type 1

ORPHA:102009

Cobblestone lissencephaly

Lissencephaly type 2

ORPHA:51577

Lissencephaly

ORPHA:48471

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

ORPHA:89844

Lissencephaly type 1 due to doublecortin gene mutation

X-linked lissencephaly type 1

ORPHA:2148

Lissencephaly type 3

ORPHA:102011

OBSOLETE: Cobblestone lissencephaly type B

OBSOLETE: Lissencephaly type 2B

ORPHA:352704

OBSOLETE: Cobblestone lissencephaly type C

OBSOLETE: Lissencephaly type 2C

ORPHA:352699

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 2

OBSOLETE: GNET type 2

ORPHA:481475

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: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

ORPHA:70470

OBSOLETE: Isolated megalencephaly

OBSOLETE: Isolated macrencephaly

ORPHA:268920

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440

OBSOLETE: Limbic encephalitis

ORPHA:163892

OBSOLETE: Microlissencephaly type B

ORPHA:101052

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128