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"

3 matching diseasesClear search ×

Genetic non-syndromic obesity

Monogenic obesity due to a leptin-melanocortin pathway anomaly

ORPHA:98267

Obesity due to melanocortin 4 receptor deficiency

MC4R deficiency

ORPHA:71529

Obesity due to pro-opiomelanocortin deficiency

POMC deficiency

ORPHA:71526