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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;   fetal alcohol syndrome
 xref: MESH:D063647;   MONDO:0000408


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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 chr20:18,601,307...19,224,790
Ensembl chr20:18,601,826...19,084,879 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Avp arginine vasopressin IEP mRNA:decreased expression:hypothalamic nucleus RGD PMID:15142835 RGD:596933086 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:138,246,554...138,248,522 		JBrowse link
G Bpifa1 BPI fold containing family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr 3:163,087,965...163,093,708
Ensembl chr 3:163,087,965...163,093,708 		JBrowse link
G C3 complement C3 IEP protein:increased activity:blood RGD PMID:30657461 RGD:408418720 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G C5 complement C5 IEP protein:increased activity:blood RGD PMID:30657461 RGD:408418720 NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:38,668,174...38,759,468 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		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 chr10:89,540,192...89,583,466
Ensembl chr10:89,540,192...89,583,466 		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 6:135,107,074...135,107,985 		JBrowse link
G Dnmt1 DNA methyltransferase 1 IEP mRNA,protein:increased expression:Pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		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 8:58,605,403...58,669,339
Ensembl chr 8:58,605,403...58,669,339 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr20:3,924,263...3,941,238
Ensembl chr20:3,924,263...3,941,384 		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 1:117,431,842...117,836,725 		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 chr10:26,876,926...26,965,523 		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 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Hdac2 histone deacetylase 2 IEP mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr20:42,101,815...42,126,486
Ensembl chr20:42,102,861...42,126,311 		JBrowse link
G Hdac4 histone deacetylase 4 IEP mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		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 chr19:50,307,569...50,312,812 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		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 4:106,038,254...106,053,645 		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:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mir326 microRNA 326 IEP miRNA:increases expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr 1:163,266,165...163,266,259
Ensembl chr 1:163,266,165...163,266,259 		JBrowse link
G Mir9 microRNA 9 IEP miRNA:increased expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr 9:1,167,436...1,167,545
Ensembl chr 9:1,167,436...1,167,545 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		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 chr12:44,287,614...44,371,837 		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 chr19:47,619,853...47,964,089
Ensembl chr19:47,619,853...47,964,078 		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 5:18,657,871...18,675,671 		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 3:189,212,175...189,217,426 		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 3:137,354,161...137,366,503 		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 9:99,454,830...99,496,993 		JBrowse link
G Pnoc prepronociceptin IEP mRNA:increased expression:nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr15:43,800,240...43,827,841
Ensembl chr15:43,800,246...43,827,470 		JBrowse link
G Pomc proopiomelanocortin treatment ISO RGD PMID:31329297 RGD:405878078 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		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 chr17:38,288,162...38,298,217 		JBrowse link
G Pten phosphatase and tensin homolog IEP Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 treatment IEP RGD PMID:23763370 RGD:13432044 NCBI chr 8:99,324,986...99,454,099
Ensembl chr 8:99,324,749...99,454,089 		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 5:151,362,819...151,476,044 		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 2:137,713,545...137,756,319 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 treatment IEP RGD PMID:23763370 RGD:13432044 NCBI chr 3:76,504,868...76,599,536
Ensembl chr 3:76,504,868...76,599,536 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		JBrowse link
G Tlr4 toll-like receptor 4 ameliorates ISO RGD PMID:30312858 RGD:405866345 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Ube3a ubiquitin protein ligase E3A treatment IEP RGD PMID:23763370 RGD:13432044 NCBI chr 1:119,204,244...119,297,097
Ensembl chr 1:119,206,148...119,297,097 		JBrowse link
alcohol-related birth defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO DNA:SNP:CDS:rs7917190 RGD PMID:29109170 RGD:597830079 NCBI chr20:18,601,307...19,224,790
Ensembl chr20:18,601,826...19,084,879 		JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO associated with cleft lip; DNA:SNP: :rs2294035, rs4876274 RGD PMID:31372216 RGD:597830081 NCBI chr16:81,349,429...81,440,439
Ensembl chr16:81,349,429...81,440,054 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO DNA:SNP:CDS:rs4659444 RGD PMID:29109170 RGD:597830079 NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:151,362,819...151,476,044 		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 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Fetal Diseases 393
          fetal alcohol spectrum disorder 45
            alcohol-related birth defects 3
            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 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              cognitive disorder 2320
                psychotic disorder 1221
                  substance-induced psychosis 139
                    alcohol-induced mental disorder 90
                      fetal alcohol spectrum disorder 45
                        alcohol-related birth defects 3
                        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