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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Mayer-Rokitansky-Kuster-Hauser syndrome type 1
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Accession:DOID:0112178 term browser browse the term
Definition:A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. (DO)
Synonyms:exact_synonym: MRKH syndrome type 1;   Rokitansky sequence;   congenital absence of uterus and vagina
 primary_id: OMIM:277000
 xref: ORDO:247775
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Mayer-Rokitansky-Kuster-Hauser syndrome 3
        Mayer-Rokitansky-Kuster-Hauser syndrome type 1 0
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        Congenital Abnormalities 5187
          Urogenital Abnormalities 261
            disorder of sexual development 156
              46, XX Disorders of Sex Development 28
                Mayer-Rokitansky-Kuster-Hauser syndrome 3
                  Mayer-Rokitansky-Kuster-Hauser syndrome type 1 0
paths to the root