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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:primary_id: RDO:9003192
For additional species annotation, visit the Alliance of Genome Resources.


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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 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      fetal alcohol syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              cognitive disorder 1915
                psychotic disorder 1093
                  substance-induced psychosis 79
                    alcohol-induced mental disorder 56
                      fetal alcohol spectrum disorder 11
                        fetal alcohol 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.