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Mayer-Rokitansky-Küster-Hauser syndrome type 2

^ http://purl.obolibrary.org/obo/MONDO_0010989


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

database cross reference
  • SCTID:717705004 (MONDO:equivalentTo)
  • GARD:0005513 (MONDO:equivalentTo)
  • Orphanet:2578 (OMIM:601076)
  • OMIM:601076 (Orphanet:2578/e)
  • DOID:0112179 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
MURCS [ MONDO:Lexical OMIM:601076 ]

definition

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.

exactMatch

http://identifiers.org/snomedct/717705004, http://purl.obolibrary.org/obo/Orphanet_2578, http://purl.obolibrary.org/obo/DOID_0112179, https://omim.org/entry/601076

has exact synonym

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

has related synonym

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

id

MONDO:0010989