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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:Hydrocolpos
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Accession:DOID:9005371 term browser browse the term
Definition:A fluid-filled VAGINA that is obstructed.
Synonyms:primary_id: MESH:D052202;   RDO:0004097
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
McKusick-Kaufman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by OMIM:236700
ClinVar Annotator: match by term: McKusick Kaufman syndrome
ClinVar Annotator: match by term: McKusick-Kaufman syndrome
OMIM
ClinVar
PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      reproductive system disease 2735
        female reproductive system disease 1735
          vaginal disease 32
            Hydrocolpos 1
              McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2044
          Female Urogenital Diseases 1739
            female reproductive system disease 1735
              vaginal disease 32
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root