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 ×

Müllerian aplasia

Aplasia of the Müllerian ducts · Müllerian duct failure

ORPHA:73217

Partial bilateral aplasia of the Müllerian ducts

Incomplete bilateral aplasia of the Müllerian ducts

ORPHA:180068

Unilateral aplasia of the Müllerian ducts

Unicornuate uterus

ORPHA:180071

Müllerian aplasia and hyperandrogenism

Müllerian duct failure and hyperandrogenism · WNT4 deficiency

ORPHA:247768

Pseudounicornuate uterus

Incomplete unilateral Müllerian aplasia · Incomplete unilateral aplasia of the Müllerian ducts

ORPHA:180079

True unicornuate uterus

Complete unilateral Müllerian aplasia · Complete unilateral aplasia of the Müllerian ducts

ORPHA:180074