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"

12 matching diseasesClear search ×

Hydrocephaly-tall stature-joint laxity syndrome

Daish-Hardman-Lamont syndrome

ORPHA:2181

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

ORPHA:1490

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

ORPHA:90024

Diaphyseal medullary stenosis-bone malignancy syndrome

Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

ORPHA:85182

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

ORPHA:1415

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

ORPHA:157855

Harrod syndrome

Cranio-facio-digito-genital syndrome

ORPHA:2115

Hinman syndrome

HAS · HS

ORPHA:84085

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

ORPHA:2363

Lateral meningocele syndrome

Lehman syndrome

ORPHA:2789

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

ORPHA:1409