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Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 (MONDO:0010173)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.

Overview

Category

syndromic disease

reproductive system disorder

Ontology ID

MONDO:0010173

Internal:11355

Synonyms

MRKH syndrome type 1

Rokitansky sequence

congenital absence of uterus and vagina

MRKH anomaly

MRKH syndrome

Mayer-Rokitansky-KUSTER-Hauser syndrome

Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Mrk anomaly

Mullerian aplasia/dysgenesis

Mullerian dysgenesis

Müllerian agenesis

Rokitansky syndrome

Von Mayer-Rokitansky-Kuster anomaly

congenital absence of the uterus and vagina (CAUV)

genital renal ear syndrome

urogenital adysplasia

uterus Bipartitus solidus Rudimentarius cum vagina Solida

Mapped terms

DOID:0112178

GARD:0004737

ICD9:752.49

MEDGEN:1797978

OMIM:277000

Orphanet:247775

UMLS:C5566555

Child terms

Unknown children.

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