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Mullerian aplasia MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
*Congenital Abnormalities
Mullerian Ducts / *abnormalities
*46, XX Disorders of Sex Development
Frequency
419
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 Preferred
Rokitansky Kuster Hauser syndrome Related
Rokitansky sequence Narrower
Klippel-Feil deformity, conductive deafness, and absent vagina Related
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