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 ×

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

ORPHA:221120

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

ORPHA:95715

Lassa fever

LF · Lassa hemorrhagic fever

ORPHA:99824

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

ORPHA:50944

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

ORPHA:163966

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

ORPHA:81