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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: MIM:300624
 xref: GARD:6464;   ICD10CM:Q99.2;   ICD9CM:759.83;   MONDO:0010383;   NCI:C84717;   ORDO:908
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 1:6,573,863...6,717,632
Ensembl chr 1:6,573,225...6,739,715 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:152,972,579...153,477,080
Ensembl chr  X:152,972,581...153,477,080 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr 1:115,842,754...115,935,163
Ensembl chr 1:115,846,661...115,951,292 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO
IMP
ISS 		DNA:trinucleotide expansion
CTD Direct Evidence: marker/mechanism
DNA:deletion:intron 7, exon 8:
compared to SD control;DNA:deletion:intron 7, exon 8:
OMIM:300624
ClinVar Annotator: match by term: Fragile X syndrome 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:7530551 PMID:7633450 PMID:7670500 PMID:8037202 PMID:8156595 More... RGD:1601178, RGD:11566028, RGD:11566052, RGD:38501107, RGD:38548926, RGD:38548928, RGD:401976434 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:152,284,841...152,322,675 		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 PMID:36536454 RGD:38548926, RGD:38548928, RGD:401976434
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:6,878,545...7,273,443 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251 PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Nrxn3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 6:113,372,667...115,004,073
Ensembl chr 6:113,443,524...115,002,540 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:6,766,448...6,781,258
Ensembl chr 1:6,766,455...6,781,258 		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
ISS 		ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome
OMIM:300623
human gene in a mouse model
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:25741868 PMID:27385396 PMID:15876460 RGD:12050151 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:152,284,841...152,322,675 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		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: AFF2-related condition | ClinVar Annotator: match by term: FRAXE Syndrome | 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:152,972,579...153,477,080
Ensembl chr  X:152,972,581...153,477,080 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: FRAXE Syndrome ClinVar PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 More... NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:128,619,382...128,660,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19149
    syndrome 11446
      fragile X syndrome 16
        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 19149
    disease of anatomical entity 18457
      nervous system disease 14367
        central nervous system disease 12647
          brain disease 11866
            disease of mental health 8483
              developmental disorder of mental health 5667
                specific developmental disorder 4644
                  intellectual disability 4410
                    X-Linked Intellectual Developmental Disorders 828
                      fragile X syndrome 16
                        Saul Wilkes Stevenson syndrome 0
                        X-linked intellectual developmental disorder 109 2
                        fragile X-associated tremor/ataxia syndrome 2
paths to the root