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 50,459,906 50,463,490 RGD:9068941
G BPIFA1 BPI fold containing family A member 1 JBrowse link 20 30,641,138 30,649,515 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 12 13,943,936 14,272,195 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 96,576,930 96,832,974 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 12 118,163,655 118,314,005 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11150
    Developmental Diseases 7190
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6261
        Fetal Diseases 164
          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 11150
    disease of anatomical entity 10664
      nervous system disease 8186
        central nervous system disease 6313
          brain disease 5847
            disease of mental health 4009
              cognitive disorder 1683
                psychotic disorder 1113
                  substance-induced psychosis 106
                    alcohol-induced mental disorder 87
                      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.