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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 1
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Accession:DOID:9002680 term browser browse the term
Synonyms:exact_synonym: ZLS1;   gingival fibromatosis with abnormal fingers, fingernails, nose and ears, and splenomegaly
 broad_synonym: KCNH1 ASSOCIATED DISORDER;   KCNH1-RELATED CONDITION
 primary_id: OMIM:135500

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Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chrNW_004936555:4,285,269...4,307,715
Ensembl chrNW_004936555:4,285,269...4,310,858 		JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar		 PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More... NCBI chrNW_004936557:2,133,596...2,493,170
Ensembl chrNW_004936557:2,133,564...2,493,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Zimmerman Laband Syndrome 3
        Zimmermann-Laband Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            mouth disease 930
              tooth disease 408
                periodontal disease 119
                  gingival disease 23
                    gingival overgrowth 13
                      gingival fibromatosis 7
                        Zimmerman Laband Syndrome 3
                          Zimmermann-Laband Syndrome 1 2
paths to the root