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"

10 matching diseasesClear search ×

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

ORPHA:2026

Amelogenesis imperfecta-gingival hyperplasia syndrome

ORPHA:171836

Congenital adrenal hyperplasia

CAH

ORPHA:418

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

ORPHA:91413

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

ORPHA:290

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Didymosis aplasticosebacea

Aplasia cutis congenita-nevus sebaceus syndrome

ORPHA:370046

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

ORPHA:2024

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458