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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:primary_id: MESH:C536817;   RDO:0002509
For additional species annotation, visit the Alliance of Genome Resources.


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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Al-Gazali Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Multiple Abnormalities 2434
            Al-Gazali Syndrome 1
paths to the root