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"

4 matching diseasesClear search ×

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

Acute myeloid leukemia with 11q23 abnormalities

Acute myeloid leukemia · AML

ORPHA:98831

Orofaciodigital syndrome type 9

Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities

ORPHA:141007

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360