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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 spectrum disorder
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Accession:DOID:0050696 term browser browse the term
Definition:A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. (DO)
Synonyms:exact_synonym: FAE (Fetal Alcohol Effects);   FASD;   Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction;   alcohol related birth defects;   fetal alcohol syndrome
 primary_id: MESH:D063647


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fetal alcohol spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bpifa1 BPI fold containing family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 sexual_dimorphism IEP associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) RGD PMID:29251811 RGD:401965484 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Dio3 iodothyronine deiodinase 3 treatment IEP RGD PMID:23763370 RGD:13432044 NCBI chr 6:129,285,747...129,287,608
Ensembl chr 6:129,285,749...129,286,660 		JBrowse link
G Dnmt1 DNA methyltransferase 1 IEP mRNA,protein:increased expression:Pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Drd2 dopamine receptor D2 IDA
IEP		 DNA:Hypermethylation:promoter
mRNA:decreased expression: pituitary gland (rat)		 RGD PMID:26509893 PMID:28710248 RGD:11344152, RGD:401960105 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 treatment
sexual_dimorphism 		IEP
ISO		 in male mice only; mRNA:increased expression:frontal cortex: RGD PMID:23763370 PMID:30312858 RGD:13432044, RGD:405866345 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 IEP mRNA:increased expression:posterior hypothalamic region (rat) RGD PMID:18514412 RGD:402528884 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IMP
IEP		 RGD PMID:22037411 PMID:23763370 RGD:13210751, RGD:13432044 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Hdac2 histone deacetylase 2 IEP mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hdac4 histone deacetylase 4 IEP mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 IEP protein:increased expression:placenta (rat) RGD PMID:26342748 RGD:401965481 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Mat2a methionine adenosyltransferase 2A IEP mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mecp2 methyl CpG binding protein 2 treatment IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 PMID:23763370 RGD:11344152, RGD:13432044 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mir326 microRNA 326 IEP miRNA:increases expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123 		JBrowse link
G Mir9 microRNA 9 IEP miRNA:increased expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr 9:1,080,274...1,080,383
Ensembl chr 9:1,080,274...1,080,383 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 sexual_dimorphism IEP associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
associated with adrenalectomy, chronic stress, female; mRNA:increased expression:prefrontal cortex (rat)		 RGD PMID:29251811 PMID:30367959 RGD:401965484, RGD:401966864 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 sexual_dimorphism IEP associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) RGD PMID:29251811 RGD:401965484 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Oprk1 opioid receptor, kappa 1 IEP DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex RGD PMID:29678771 RGD:401851055 NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823 		JBrowse link
G Oprl1 opioid related nociceptin receptor 1 IEP mRNA:decreased expression:ventral tegmental area RGD PMID:29678771 RGD:401851055 NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920 		JBrowse link
G Pdyn prodynorphin IEP DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Per2 period circadian regulator 2 treatment ISO RGD PMID:31329297 RGD:405878078 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Pnoc prepronociceptin IEP mRNA:increased expression:nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867 		JBrowse link
G Pomc proopiomelanocortin treatment ISO RGD PMID:31329297 RGD:405878078 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Prl prolactin IEP mRNA,protein:increased expression:pituitary gland, blood plasma (rat)
mRNA, protein:increased expression:pituitary gland, blood plasma (rat)		 RGD PMID:26509893 PMID:28710248 RGD:11344152, RGD:401960105 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Pten phosphatase and tensin homolog IEP Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 treatment IEP RGD PMID:23763370 RGD:13432044 NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272 		JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase IEP mRNA:decreased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 treatment IEP RGD PMID:23763370 RGD:13432044 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Tlr4 toll-like receptor 4 ameliorates ISO RGD PMID:30312858 RGD:405866345 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Ube3a ubiquitin protein ligase E3A treatment IEP RGD PMID:23763370 RGD:13432044 NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250 		JBrowse link
fetal alcohol syndrome term browser
Symbol Object Name Qualifiers 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 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        Fetal Diseases 381
          fetal alcohol spectrum disorder 42
            alcohol-related birth defects 0
            alcohol-related neurodevelopmental disorder 0
            fetal alcohol syndrome 1
            neurobehavioral disorder with prenatal alcohol exposure 0
            partial fetal alcohol syndrome 0
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              cognitive disorder 2306
                psychotic disorder 1206
                  substance-induced psychosis 123
                    alcohol-induced mental disorder 88
                      fetal alcohol spectrum disorder 42
                        alcohol-related birth defects 0
                        alcohol-related neurodevelopmental disorder 0
                        fetal alcohol syndrome 1
                        neurobehavioral disorder with prenatal alcohol exposure 0
                        partial fetal alcohol syndrome 0
paths to the root