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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: MIM:601076
 xref: ORDO:2578


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Mayer-Rokitansky-Kuster-Hauser syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina ClinVar PMID:25741868 NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15423
    syndrome 10412
      Mayer-Rokitansky-Kuster-Hauser syndrome 3
        Mayer-Rokitansky-Kuster-Hauser syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 15423
    Developmental Disease 13485
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12608
        Congenital Abnormalities 7616
          Urogenital Abnormalities 441
            disorder of sexual development 230
              46, XX Disorders of Sex Development 37
                Mayer-Rokitansky-Kuster-Hauser syndrome 3
                  Mayer-Rokitansky-Kuster-Hauser syndrome type 2 1
paths to the root