MeSH Browser

MeSH Supplementary: Mullerian aplasia
Unique ID: C537371
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537371
Entry Term(s): Congenital absence of uterus and vagina; Klippel-Feil deformity, conductive deafness, and absent vagina; MRK anomaly; MRKH Syndrome; MRKH anomaly; MRKH, Type II; MURCS association; Mayer Rokitansky Kuster Hauser syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II; Muellerian aplasia; Mullerian Aplasia-Dysgenesis; Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies; Mullerian duct failure; RKH syndrome; Rokitansky Kuster Hauser syndrome; Rokitansky sequence; Uterus bipartitus solidus rudimentarius cum vagina solida; Von Mayer Rokitansky Kuster anomaly; Von Mayer-Rokitansky-Kuster Anomaly
Heading Mapped to: *Congenital Abnormalities; Mullerian Ducts / abnormalities; *46, XX Disorders of Sex Development
Frequency: 447
Note: Congenital abnormality characterized by mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS) in female patients; males may exhibit renal and genital abnormalities, as well as AZOOSPERMIA. Patients may also present with MIDDLE-EAR abnormalities. Molecular basis is unknown. OMIM: 601076
Date of Entry: 2010/08/25
Revision Date: 2018/09/24

Mullerian aplasia MeSH Supplementary Concept Data 2024