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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
 xref: MIM:618729;   MONDO:0032886


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Liang-Wang Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 susceptibility ISO ClinVar Annotator: match by term: Liang-Wang syndrome ClinVar
OMIM		 PMID:9536098 PMID:12366739 PMID:15184377 PMID:15194823 PMID:15937479 More... NCBI chr15:351,065...1,057,117
Ensembl chr15:302,214...1,001,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Liang-Wang Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              Neurodevelopmental Disorders 6972
                Liang-Wang Syndrome 1
paths to the root