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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:Knobloch Syndrome Type II
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Accession:DOID:9000127 term browser browse the term
Synonyms:exact_synonym: KNO2;   Knobloch Syndrome 2
 primary_id: MESH:C548030
 alt_id: OMIM:618458


show annotations for term's descendants           Sort by:
Knobloch Syndrome Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome 2 OMIM
ClinVar		 PMID:25741868 NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Knobloch Syndrome 4
        Knobloch Syndrome Type II 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              prolapse of female genital organ 191
                enterocele 191
                  Encephalocele 29
                    Knobloch Syndrome 4
                      Knobloch Syndrome Type II 1
paths to the root