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"

155 matching diseasesClear search ×

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

ORPHA:2712

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

ORPHA:611201

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

ORPHA:39041

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

ORPHA:2739

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

ORPHA:2741

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

ORPHA:1183

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

ORPHA:2792

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

ORPHA:2970

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715

Subaortic stenosis-short stature syndrome

Onat syndrome

ORPHA:3191