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"

6 matching diseasesClear search ×

Acute ackee fruit intoxication

Acute intoxication by Blighia sapida · Jamaican vomiting sickness

ORPHA:73423

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

ORPHA:79124

Jawad syndrome

ORPHA:313795

Jung syndrome

ORPHA:2321

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

ORPHA:91412

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

ORPHA:2739