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"

5 matching diseasesClear search ×

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

Balikova-Vermeesch syndrome

ORPHA:139450

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

ORPHA:363746

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

ORPHA:93395

Biliary atresia with splenic malformation syndrome

BASM syndrome

ORPHA:244283

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

ORPHA:2703