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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:Liang-Wang Syndrome
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Accession:DOID:9008959 term browser browse the term
Synonyms:exact_synonym: LIWAS
 primary_id: OMIM:618729
For additional species annotation, visit the Alliance of Genome Resources.


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Liang-Wang Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: LIANG-WANG SYNDROME
ClinVar Annotator: match by term: Liang-Wang syndrome
OMIM
ClinVar
PMID:25741868 PMID:31152168 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Liang-Wang Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              Neurodevelopmental Disorders 5565
                Liang-Wang Syndrome 1
paths to the root