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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
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Accession:DOID:0112177 term browser browse the term
Definition:A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. (DO)
Synonyms:exact_synonym: MRK anomaly;   MRKH anomaly;   MRKH syndrome;   MULLERIAN APLASIA/DYSGENESIS;   Mullerian Aplasia;   Mullerian duct failure;   RKH syndrome;   Rokitansky Kuster Hauser syndrome;   Rokitansky syndrome;   UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA;   von Mayer-Rokitansky-Kuster anomaly
 narrow_synonym: APLASIA OF THE UTERUS;   CAUV UROGENITAL ADYSPLASIA
 primary_id: MESH:C537371
 xref: NCI:C124853;   ORDO:3109



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Mayer-Rokitansky-Kuster-Hauser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32378186 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
Mayer-Rokitansky-Kuster-Hauser syndrome type 1 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: Mayer Rokitansky Kuster Hauser syndrome type 1 | ClinVar Annotator: match by term: Rokitansky sequence ClinVar PMID:25741868 PMID:28492532 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
JBrowse link
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 chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Mayer-Rokitansky-Kuster-Hauser syndrome 3
        Mayer-Rokitansky-Kuster-Hauser syndrome type 1 1
        Mayer-Rokitansky-Kuster-Hauser syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        Congenital Abnormalities 7748
          Urogenital Abnormalities 452
            disorder of sexual development 234
              46, XX Disorders of Sex Development 32
                Mayer-Rokitansky-Kuster-Hauser syndrome 3
                  Mayer-Rokitansky-Kuster-Hauser syndrome type 1 1
                  Mayer-Rokitansky-Kuster-Hauser syndrome type 2 1
paths to the root