Term Name: | Mayer-Rokitansky-Kuster-Hauser syndrome type 1 |
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Synonyms: | congenital absence of uterus and vagina, MRKH syndrome type 1, Rokitansky sequence |
Definition: | A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. |
Ontology: | Human Disease [DOID:0112178] ( DOID:0112178 ) |