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"

9 matching diseasesClear search ×

Didymosis aplasticosebacea

Aplasia cutis congenita-nevus sebaceus syndrome

ORPHA:370046

Aplasia cutis congenita

ORPHA:1114

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Bronspiegel-Zelnick syndrome

ORPHA:1116

Aplasia cutis-myopia syndrome

Gershoni-Baruch-Leibo syndrome

ORPHA:1117

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

ORPHA:2026

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

ORPHA:2612

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

ORPHA:3339

SCALP syndrome

Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome

ORPHA:370052