| Term Name: | Mayer-Rokitansky-Kuster-Hauser syndrome type 1 |
|---|---|
| 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 ) |