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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 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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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 1:4,753,621...4,896,268
Ensembl chr 1:4,753,621...4,896,190 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 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 		JBrowse link
G Fmr1em1Mzhe FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe IMP RGD PMID:28894415 RGD:38501107
G 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
G 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 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251 PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G 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 		JBrowse link
G 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 		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 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 		JBrowse link
G 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 		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 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 		JBrowse link
G 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 		JBrowse link
X-linked intellectual developmental disorder 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G 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 More... NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      fragile X syndrome 17
        Primary Ovarian Insufficiency, Fragile X-Associated 2
        Saul Wilkes Stevenson syndrome 0
        X-linked intellectual developmental disorder 109 2
        fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              developmental disorder of mental health 5446
                specific developmental disorder 4430
                  intellectual disability 4243
                    X-Linked Intellectual Developmental Disorders 825
                      fragile X syndrome 17
                        Primary Ovarian Insufficiency, Fragile X-Associated 2
                        Saul Wilkes Stevenson syndrome 0
                        X-linked intellectual developmental disorder 109 2
                        fragile X-associated tremor/ataxia syndrome 2
paths to the root