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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


show annotations for term's descendants           Sort by:
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
OMIM		 PMID:9536098 PMID:12366739 PMID:15184377 PMID:15194823 PMID:15937479 More... NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Liang-Wang Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              Neurodevelopmental Disorders 6832
                Liang-Wang Syndrome 1
paths to the root