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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 2
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Accession:DOID:0112179 term browser browse the term
Definition:A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. (DO)
Synonyms:exact_synonym: Klippel-Feil deformity, conductive deafness, and absent vagina;   MRKH syndrome type 2;   MRKH, Type II;   MURCS;   MURCS association;   Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II;   Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies;   atypical MRKH syndrome;   mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia;   mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
 primary_id: OMIM:601076
 xref: ORDO:2578
For additional species annotation, visit the Alliance of Genome Resources.


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Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Mayer-Rokitansky-Kuster-Hauser syndrome 3
        Mayer-Rokitansky-Kuster-Hauser syndrome type 2 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 2 0
paths to the root