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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 IEP protein:increased activation:neuron, cerebellum RGD PMID:17109064 RGD:2298867 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      fetal alcohol syndrome 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              cognitive disorder 2302
                psychotic disorder 1202
                  substance-induced psychosis 114
                    alcohol-induced mental disorder 80
                      fetal alcohol spectrum disorder 34
                        fetal alcohol syndrome 1
paths to the root