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Metadata
ID DOID:0112179
PURL http://purl.obolibrary.org/obo/DOID_0112179 Copy
Name Mayer-Rokitansky-Kuster-Hauser syndrome type 2
Definition A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
https://pubmed.ncbi.nlm.nih.gov/469663/
Xrefs

MIM:601076

ORDO:2578

Subsets

DO_rare_slim

Synonyms

atypical MRKH syndrome [EXACT]

MRKH syndrome type 2 [EXACT]

mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia [EXACT]

mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome [EXACT]

MURCS association [EXACT]

MURCS [EXACT]

Parent Relationships

is_a Mayer-Rokitansky-Kuster-Hauser syndrome

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