Mayer-Rokitansky-Küster-Hauser syndrome type 2
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. [ Orphanet:2578 ]
Term info
- SCTID:717705004 (MONDO:equivalentTo)
- GARD:0005513 (MONDO:equivalentTo)
- Orphanet:2578 (OMIM:601076)
- OMIM:601076 (Orphanet:2578/e)
- DOID:0112179 (MONDO:equivalentTo)
ordo_clinical_subtype
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
http://identifiers.org/snomedct/717705004, http://purl.obolibrary.org/obo/Orphanet_2578, http://purl.obolibrary.org/obo/DOID_0112179, https://omim.org/entry/601076
Mayer-Rokitansky-Küster-Hauser syndrome type 2, MURCS association, Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome, MRKH syndrome type 2, atypical MRKH syndrome, Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome, type 2, MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies, Klippel-Feil deformity, conductive deafness, and absent vagina, MRKH, type 2, MURCS
MONDO:0010989