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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:Al-Gazali Syndrome
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Accession:DOID:9000730 term browser browse the term
Synonyms:exact_synonym: ALGAZ
 primary_id: MESH:C536817
 alt_id: OMIM:609465


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Al-Gazali Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Al-Gazali syndrome OMIM
ClinVar		 PMID:10319196 PMID:25149931 PMID:25741868 PMID:28492532 PMID:29443383 More... NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Al-Gazali Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Multiple Abnormalities 3708
            Al-Gazali Syndrome 1
paths to the root