Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 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 19099
    syndrome 11271
      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 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Urogenital Abnormalities 457
            disorder of sexual development 237
              46, XX Disorders of Sex Development 35
                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