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 ×

Digital extensor muscle aplasia-polyneuropathy

Hamanishi-Ueba-Tsuji syndrome · Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy

ORPHA:2926

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

ORPHA:1215

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

ORPHA:228407

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

ORPHA:2905

Poland syndrome

Poland anomaly · Poland sequence

ORPHA:2911

Polyendocrine-polyneuropathy syndrome

ORPHA:453533

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

ORPHA:171848