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Mayer-Rokitansky-Kuster-Hauser syndrome

^ http://purl.obolibrary.org/obo/MONDO_0017771

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). [ Orphanet:3109 ]

Term info

database cross reference
  • DOID:0112177 (MONDO:equivalentTo)
  • MedDRA:10065148 (Orphanet:3109/e)
  • Orphanet:3109 (MONDO:equivalentTo)
  • NCIT:C124853 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
MRKH [ NCIT:C124853 ]

closeMatch

http://identifiers.org/meddra/10065148

definition

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).

exactMatch

http://purl.obolibrary.org/obo/NCIT_C124853, http://purl.obolibrary.org/obo/Orphanet_3109, http://purl.obolibrary.org/obo/DOID_0112177

has exact synonym

Rokitansky syndrome, MRKH syndrome, MRKH, Mullerian aplasia/dysgenesis

has related synonym

Mayer-Rokitansky-Küster-Hauser syndrome

id

MONDO:0017771