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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:Stickler Syndrome, Type IV
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Accession:DOID:9001539 term browser browse the term
Synonyms:exact_synonym: STICKLER SYNDROME, RECESSIVE;   STICKLER SYNDROME, TYPE 4;   STL4
 narrow_synonym: Stickler Syndrome, Autosomal Recessive, COL9A1-Related
 broad_synonym: COL9A1-RELATED CONDITION;   COL9A1-RELATED DISORDER
 primary_id: MESH:C565177
 alt_id: OMIM:614134


show annotations for term's descendants           Sort by:
Stickler Syndrome, Type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stickler Syndrome, Recessive | ClinVar Annotator: match by term: Stickler syndrome, type 4		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:16909383 PMID:20301479 PMID:21421862 PMID:23967202 More... NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Stickler syndrome 11
        Stickler Syndrome, Type IV 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          Stickler syndrome 11
            Stickler Syndrome, Type IV 1
paths to the root