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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 PMID:12920096 PMID:18094050 PMID:20080638 PMID:20177705 PMID:20472660 PMID:20498079 PMID:22446187 PMID:22500027 PMID:25741868 PMID:25982971 PMID:26900326 PMID:27491411 PMID:28492532 PMID:29127258 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      reproductive system disease 2727
        female reproductive system disease 1727
          vaginal disease 31
            Hydrocolpos 1
              McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Female Urogenital Diseases 1731
            female reproductive system disease 1727
              vaginal disease 31
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root