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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:23664117 PMID:24766538 PMID:25149931 PMID:25741868 More... NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Al-Gazali Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        Congenital Abnormalities 7316
          Multiple Abnormalities 3573
            Al-Gazali Syndrome 1
paths to the root