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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:LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
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Accession:DOID:9000897 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development with language delay, and mild dysmorphic features.
Synonyms:exact_synonym: LIGOWS
 pimary_id: OMIM:618974
For additional species annotation, visit the Alliance of Genome Resources.


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LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ClinVar
OMIM
PMID:31794431 NCBI chr 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  communication disorder 240
                    language disorder 141
                      Language Development Disorders 76
                        LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
paths to the root