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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:Zimmermann-Laband Syndrome 3
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Accession:DOID:9006063 term browser browse the term
Synonyms:exact_synonym: ZLS3
 primary_id: OMIM:618658
For additional species annotation, visit the Alliance of Genome Resources.


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Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: ZIMMERMANN-LABAND SYNDROME 3
ClinVar Annotator: match by term: Zimmermann-laband syndrome 3
OMIM
ClinVar
PMID:25741868 PMID:31155282 NCBI chr 2:188,837,280...188,991,794
Ensembl chr 2:188,844,073...188,988,774
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Zimmerman Laband Syndrome 3
        Zimmermann-Laband Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          mouth disease 770
            tooth disease 295
              periodontal disease 115
                gingival disease 23
                  gingival overgrowth 12
                    gingival fibromatosis 7
                      Zimmerman Laband Syndrome 3
                        Zimmermann-Laband Syndrome 3 1
paths to the root