Mayer-Rokitansky-Kuster-Hauser syndrome type 2

Term ID

DOID:0112179

Synonyms

• atypical MRKH syndrome
• MRKH syndrome type 2
• mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia
• mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
• MURCS
• MURCS association

Definition

A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. https://pubmed.ncbi.nlm.nih.gov/469663/

References

• MIM:601076
• ORDO:2578

Ontology

Human Disease   ( DOID:0112179 )