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"

11 matching diseasesClear search ×

OBSOLETE: Acrocephalosyndactyly

OBSOLETE: Acrocephalosyndactylia

ORPHA:946

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

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

OBSOLETE: Allain-Babin-Demarquez syndrome · OBSOLETE: Acro-cephalo-synostosis

ORPHA:1526

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

ORPHA:794