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 1 110,525,717 110,528,534 RGD:9068941
G BPIFA1 BPI fold containing family A member 1 JBrowse link 24 22,475,407 22,482,666 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 27 32,470,889 32,883,606 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IGF1R insulin like growth factor 1 receptor JBrowse link 3 41,795,337 42,096,255 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 26 13,787,341 13,895,176 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 26 37,853,148 37,913,176 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11243
    Developmental Diseases 7173
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6228
        Fetal Diseases 166
          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 11243
    disease of anatomical entity 10752
      nervous system disease 8285
        central nervous system disease 6373
          brain disease 5905
            disease of mental health 4060
              cognitive disorder 1722
                psychotic disorder 1133
                  substance-induced psychosis 112
                    alcohol-induced mental disorder 94
                      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.