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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:fetal alcohol syndrome
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Accession:DOID:0050665 term browser browse the term
Definition:A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. (DO)
Synonyms:xref: ICD10CM:Q86.0;   MONDO:0016011;   NCI:C84713;   ORDO:1915

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fetal alcohol syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO protein:increased activation:neuron, cerebellum RGD PMID:17109064 RGD:2298867 NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      fetal alcohol syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              cognitive disorder 1967
                psychotic disorder 1046
                  substance-induced psychosis 70
                    alcohol-induced mental disorder 38
                      fetal alcohol spectrum disorder 32
                        fetal alcohol syndrome 1
paths to the root