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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 I
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Accession:DOID:9002766 term browser browse the term
Synonyms:exact_synonym: KNO1;   Knobloch syndrome 1
 broad_synonym: COL18A1-RELATED CONDITION
 primary_id: MIM:267750
 xref: NCI:C201594


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Knobloch Syndrome Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12415512 PMID:12766032 PMID:14695535 PMID:16199547 More... NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:12415512 PMID:17546652 PMID:19160445 PMID:19390655 PMID:20799329 More... NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      Knobloch Syndrome 4
        Knobloch Syndrome Type I 2
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      Urogenital Diseases 5394
        Female Urogenital Diseases and Pregnancy Complications 2668
          Female Urogenital Diseases 2190
            female reproductive system disease 2187
              prolapse of female genital organ 191
                enterocele 191
                  Encephalocele 31
                    Knobloch Syndrome 4
                      Knobloch Syndrome Type I 2
paths to the root