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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:fragile X syndrome
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Accession:DOID:14261 term browser browse the term
Definition:A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Synonyms:exact_synonym: FRAXA Syndrome;   FRAXA Syndromes;   FRAXE MENTAL RETARDATION SYNDROME;   FRAXE Syndrome;   FRAXE Syndromes;   Fra(X) Syndrome;   Fragile X Mental Retardation Syndrome;   Fragile X Syndromes;   Mar (X) Syndrome;   Marker X Syndrome;   Marker X Syndromes;   Martin Bell Syndrome;   Mental Retardation, X-Linked, Associated With Fragile Site Fraxe;   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;   OMIM:309548
 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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fragile X syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgb androglobin ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,445,039...4,588,507
Ensembl chr 1:4,445,027...4,560,789
JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by OMIM:309548
OMIM
ClinVar
PMID:18414213, PMID:21739600, PMID:22773736, PMID:23562910, PMID:25741868, PMID:28492532 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO
IMP
DNA:trinucleotide expansion
DNA:deletion:intron 7, exon 8:
ClinVar Annotator: match by term: Fragile X syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300624
ClinVar
CTD
OMIM
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:28616095, PMID:1675488, PMID:27465362, PMID:28894415, PMID:24713347, PMID:12032354 RGD:1601178, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Fmr1em1Sage fragile X mental retardation 1;zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP DNA:deletion:intron 7, exon 8: RGD PMID:27465362 RGD:38548926
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251, PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nrxn3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 6:112,133,204...114,069,589
Ensembl chr 6:112,133,204...114,067,564
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME 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:23632999, PMID:23837941, PMID:23858502, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24328305, PMID:24428606, PMID:24518491, PMID:25181470, PMID:25741868, PMID:26243289, PMID:26304913, PMID:26310624, PMID:26672964, PMID:26831755, PMID:26987331, PMID:28492532 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 FMRP translational regulator 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism
OMIM
CTD
PMID:27385396, PMID:15876460 RGD:12050151 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
Primary Ovarian Insufficiency, Fragile X-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadac arylacetamide deacetylase ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:21681106, PMID:25666259 NCBI chr 2:150,146,234...150,157,480
Ensembl chr 2:150,146,234...150,157,480
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO RGD PMID:22470123 RGD:12050152 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      fragile X syndrome 15
        Primary Ovarian Insufficiency, Fragile X-Associated 2
        Saul Wilkes Stevenson syndrome 0
        fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        fragile X syndrome 15
                          Primary Ovarian Insufficiency, Fragile X-Associated 2
                          Saul Wilkes Stevenson syndrome 0
                          fragile X-associated tremor/ataxia syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.