ONTOLOGY REPORT - ANNOTATIONS


Term:fetal alcohol spectrum disorder
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Accession:DOID:0050696 term browser browse the term
Definition:An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity.
Synonyms:exact_synonym: FAE (Fetal Alcohol Effects);   FAEs (Fetal Alcohol Effects);   FASD;   FASDs;   Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction;   alcohol related birth defects;   fetal alcohol syndrome
 primary_id: MESH:D063647
 alt_id: RDO:0015823
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fetal alcohol spectrum disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOE apolipoprotein E JBrowse link 19 44,905,749 44,909,395 RGD:12904641
G BPIFA1 BPI fold containing family A member 1 JBrowse link 20 33,235,996 33,243,309 RGD:11554173
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:11554173
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 12 13,537,337 13,982,012 RGD:13210751
RGD:13432044
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:12904886
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 98,648,539 98,964,530 RGD:12904886
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:11554173
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,438 87,971,930 RGD:12801493

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15498
    Developmental Diseases 9002
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7331
        Fetal Diseases 180
          fetal alcohol spectrum disorder 8
            alcohol-related birth defect 0
            alcohol-related neurodevelopmental disorder 0
            fetal alcohol syndrome 0
            partial fetal alcohol syndrome 0
Path 2
Term Annotations click to browse term
  disease 15498
    disease of anatomical entity 14313
      nervous system disease 10387
        central nervous system disease 8187
          brain disease 7657
            disease of mental health 5567
              cognitive disorder 2358
                psychotic disorder 1739
                  substance-induced psychosis 124
                    alcohol-induced mental disorder 105
                      fetal alcohol spectrum disorder 8
                        alcohol-related birth defect 0
                        alcohol-related neurodevelopmental disorder 0
                        fetal alcohol syndrome 0
                        partial fetal alcohol syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.