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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


show annotations for term's descendants           Sort by:
Mayer-Rokitansky-Kuster-Hauser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32378186 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 IAGP ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 NCBI chr 1:12,847,377...12,848,720
Ensembl chr 1:12,847,377...12,848,720 		JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:21,380,044...21,451,047 JBrowse link
G LOC109504725 androgen receptor repeat instability region IAGP ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868 NCBI chr  X:67,545,317...67,545,419 JBrowse link
G WNT4 Wnt family member 4 IAGP ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		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 IAGP ClinVar Annotator: match by term: Rokitansky sequence ClinVar PMID:25741868 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Rokitansky sequence ClinVar PMID:25741868 NCBI chr18:21,380,044...21,451,047 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 IAGP ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina ClinVar PMID:25741868 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina ClinVar PMID:25741868 NCBI chr18:21,380,044...21,451,047 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Mayer-Rokitansky-Kuster-Hauser syndrome 6
        Mayer-Rokitansky-Kuster-Hauser syndrome type 1 2
        Mayer-Rokitansky-Kuster-Hauser syndrome type 2 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14120
          Urogenital Abnormalities 543
            disorder of sexual development 287
              46, XX Disorders of Sex Development 40
                Mayer-Rokitansky-Kuster-Hauser syndrome 6
                  Mayer-Rokitansky-Kuster-Hauser syndrome type 1 2
                  Mayer-Rokitansky-Kuster-Hauser syndrome type 2 2
paths to the root