| Metadata | |
|---|---|
| ID | DOID:0112178 |
| Name | Mayer-Rokitansky-Kuster-Hauser syndrome type 1 |
| Definition | A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. https://pubmed.ncbi.nlm.nih.gov/16691591/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital absence of uterus and vagina [EXACT] MRKH syndrome type 1 [EXACT] Rokitansky sequence [EXACT] |
| Parent Relationships |