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 NW_004936706 1,512,438 1,516,805 RGD:9068941
G Cat catalase JBrowse link NW_004936533 3,601,270 3,637,128 RGD:9068941
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link NW_004936587 3,406,055 3,806,956 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Igf1r insulin like growth factor 1 receptor JBrowse link NW_004936483 4,563,995 4,860,231 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004936558 5,162,471 5,302,488 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004936735 1,252,414 1,338,318 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10699
    Developmental Diseases 6939
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6100
        Fetal Diseases 158
          fetal alcohol spectrum disorder 7
            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 10699
    disease of anatomical entity 10235
      nervous system disease 7882
        central nervous system disease 6060
          brain disease 5608
            disease of mental health 3804
              cognitive disorder 1607
                psychotic disorder 1049
                  substance-induced psychosis 101
                    alcohol-induced mental disorder 82
                      fetal alcohol spectrum disorder 7
                        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.