FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ID (Ontology) DOID:0112178 (Human Disease)
Definition A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.
Also Known As "congenital absence of uterus and vagina" ; "MRKH syndrome type 1" ; "Rokitansky sequence"
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  syndrome
   |__Mayer-Rokitansky-Kuster-Hauser syndrome
       |__Mayer-Rokitansky-Kuster-Hauser syndrome type 1
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Synonyms
  • "congenital absence of uterus and vagina" EXACT
    "MRKH syndrome type 1" EXACT
    "Rokitansky sequence" EXACT
Secondary IDs
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MIM:277000
ORDO:247775