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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:Zimmerman Laband Syndrome
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Accession:DOID:9004260 term browser browse the term
Synonyms:exact_synonym: Laband syndrome;   Zimmermann-Laband syndrome
 primary_id: MESH:C536725
 alt_id: RDO:0002388
 xref: OMIM:PS135500
For additional species annotation, visit the Alliance of Genome Resources.


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Zimmerman Laband Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laband syndrome
CTD
ClinVar
PMID:9738473, PMID:18203178, PMID:23424202, PMID:25420144, PMID:25711872, PMID:25741868, PMID:25915598, PMID:26264464, PMID:26818738, PMID:32581362, PMID:32860008 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
JBrowse link
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 chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar
PMID:9738473, PMID:18203178, PMID:18541964, PMID:20683999, PMID:23424202, PMID:23994350, PMID:24357613, PMID:25420144, PMID:25711872, PMID:25741868, PMID:25915598, PMID:26264464, PMID:26818738, PMID:32581362, PMID:32860008 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
JBrowse link
Zimmermann-Laband Syndrome 2 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 2 OMIM
ClinVar
PMID:18541964, PMID:23994350, PMID:25741868, PMID:25915598 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
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 OMIM
ClinVar
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 16023
    syndrome 7003
      Zimmerman Laband Syndrome 3
        Zimmermann-Laband Syndrome 1 2
        Zimmermann-Laband Syndrome 2 1
        Zimmermann-Laband Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          mouth disease 770
            tooth disease 283
              periodontal disease 111
                gingival disease 24
                  gingival overgrowth 12
                    gingival fibromatosis 7
                      Zimmerman Laband Syndrome 3
                        Zimmermann-Laband Syndrome 1 2
                        Zimmermann-Laband Syndrome 2 1
                        Zimmermann-Laband Syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.