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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:28492532, PMID:29443383, PMID:29931299 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Al-Gazali Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Multiple Abnormalities 1729
            Al-Gazali Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.