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"

23 matching diseasesClear search ×

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

Acrocephalopolydactyly

Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly

ORPHA:221054

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

ORPHA:87

Aurocephalosyndactyly

Auralcephalosyndactyly · Kurczynski-Casperson syndrome

ORPHA:1219

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

ORPHA:65759

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

ORPHA:65798

Greig cephalopolysyndactyly syndrome

GCPS

ORPHA:380

OBSOLETE: Acrocephalosyndactyly

OBSOLETE: Acrocephalosyndactylia

ORPHA:946

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: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440

OBSOLETE: Microlissencephaly type B

ORPHA:101052

OBSOLETE: Polydactyly of an index finger, bilateral

OBSOLETE: Preaxial polydactyly type 3, bilateral

ORPHA:295154

OBSOLETE: Polydactyly of an index finger, unilateral

OBSOLETE: Preaxial polydactyly type 3, unilateral

ORPHA:295152

OBSOLETE: Polysyndactyly, bilateral

OBSOLETE: Preaxial polydactyly type 4, bilateral

ORPHA:295161

OBSOLETE: Polysyndactyly, unilateral

OBSOLETE: Preaxial polydactyly type 4, unilateral

ORPHA:295159

OBSOLETE: Postaxial polydactyly type A, bilateral

ORPHA:295165

OBSOLETE: Postaxial polydactyly type A, unilateral

ORPHA:295163

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

ORPHA:794

Syndactyly type 3

SD3 · Syndactyly of fingers 4 and 5

ORPHA:93404

Syndactyly type 4

Polysyndactyly, Haas type

ORPHA:93405