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"

7 matching diseasesClear search ×

Gollop-Wolfgang complex

Bifid femur-monodactylous ectrodactyly syndrome

ORPHA:1986

Ectrodactyly-cleft palate syndrome

ECP syndrome

ORPHA:1889

Ectrodactyly-polydactyly syndrome

ORPHA:1892

Ectrodactyly-spina bifida-cardiopathy syndrome

Kasznica-Carlson-Coppedge syndrome

ORPHA:1894

Fibular aplasia-ectrodactyly syndrome

ORPHA:1118

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329