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 ×

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

ORPHA:2569

Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

ORPHA:77300

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

ORPHA:2563

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

ORPHA:662762

OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome

OBSOLETE: Mollica-Pavone-Antener syndrome

ORPHA:2650