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: fragile X syndrome
Accession: DOID:14261
browse the term
Definition: A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. (DO)
Synonyms: exact_synonym: FRAXA Syndrome; FRAXA Syndromes; Fra(X) Syndrome; Fragile X Mental Retardation Syndrome; Fragile X Syndromes; Mar (X) Syndrome; Marker X Syndrome; Marker X Syndromes; Martin Bell Syndrome; X-linked mental retardation and macroorchidism; X-linked mental retardation associated with MARXQ28; fragile X-F mental retardation syndrome
primary_id: MESH:D005600
alt_id: OMIM:300624
xref: GARD:6464 ; ICD10CM:Q99.2 ; ICD9CM:759.83 ; NCI:C84717 ; ORDO:908
For additional species annotation, visit the
Alliance of Genome Resources .
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Adgb
androglobin
ISO
ClinVar Annotator: match by term: Fragile X syndrome
ClinVar
NCBI chr 1:4,753,621...4,896,268
Ensembl chr 1:4,753,621...4,896,190
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Aff2
ALF transcription elongation factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22046307
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Cyfip1
cytoplasmic FMR1 interacting protein 1
ISO
RGD
PMID:22900020
RGD:11558008
NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
RGD
PMID:24352881
RGD:10401097
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Fmr1
fragile X messenger ribonucleoprotein 1
ISO IMP
DNA:trinucleotide expansion ClinVar Annotator: match by term: Fragile X syndrome compared to SD control;DNA:deletion:intron 7, exon 8: CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 PMID:9659908 PMID:15028757 PMID:15805463 PMID:16043816 PMID:16510718 PMID:17065172 PMID:18664458 PMID:18835858 PMID:20300527 PMID:21267007 PMID:22043169 PMID:25171808 PMID:25741868 PMID:28616095 PMID:1675488 PMID:30877790 PMID:27465362 PMID:28894415 PMID:12032354 PMID:24713347 More...
RGD:1601178 , RGD:38548928 , RGD:38548926 , RGD:38501107 , RGD:11566028 , RGD:11566052
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Mzhe
FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe
IMP
RGD
PMID:28894415
RGD:38501107
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Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
DNA:deletion:intron 7, exon 8: compared to SD control;DNA:deletion:intron 7, exon 8:
RGD
PMID:27465362 PMID:30877790
RGD:38548926 , RGD:38548928
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Grm1
glutamate metabotropic receptor 1
ISO
ClinVar Annotator: match by term: Fragile X syndrome
ClinVar
NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased expression:brain
RGD
PMID:25466251 PMID:26850918
RGD:13204755 , RGD:11572344
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nrxn3
neurexin 3
ISO
mRNA:decreased expression:hippocampus,somatosendory cortex
RGD
PMID:26235839
RGD:11554325
NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
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Rab32
RAB32, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Fragile X syndrome
ClinVar
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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Fmr1
fragile X messenger ribonucleoprotein 1
ISO
human gene in a mouse model CTD Direct Evidence: marker/mechanism
OMIM CTD RGD
PMID:27385396 PMID:15876460
RGD:12050151
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Sod1
superoxide dismutase 1
ISO
mRNA:increased expression:prefrontal cortex, brain stem (mouse)
RGD
PMID:24418349
RGD:8655858
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Fmr1
fragile X messenger ribonucleoprotein 1
ISO
RGD
PMID:22470123
RGD:12050152
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Mcm9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Primary ovarian insufficiency, fragile X-associated
ClinVar
PMID:25480036 PMID:25741868 PMID:31042289
NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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Aff2
ALF transcription elongation factor 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109
OMIM ClinVar
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 PMID:28492532 More...
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109
ClinVar
PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237 PMID:12034572 PMID:14522813 PMID:15115878 PMID:15454649 PMID:15978931 PMID:17964515 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18682522 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 More...
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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