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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:X-linked intellectual developmental disorder 109
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Accession:DOID:0080984 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2, either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. (DO)
Synonyms:exact_synonym: FRAXE Mental Retardation Syndrome;   FRAXE syndrome;   FRAXE syndromes;   Fragile XE syndrome;   MRX109;   X-linked mental retardation 109;   X-linked mental retardation associated with fragile site FRAXE;   XLID109;   fragile site on chromosome Xq28
 primary_id: OMIM:309548
 alt_id: DOID:9002187
 xref: GARD:2378;   ORDO:100973
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked intellectual developmental disorder 109 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME ClinVar
OMIM
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: FRAXE MENTAL RETARDATION SYNDROME 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 17445
    syndrome 8267
      fragile X syndrome 22
        X-linked intellectual developmental disorder 109 2
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    syndromic intellectual disability 762
                      Mental Retardation, X-Linked 720
                        fragile X syndrome 22
                          X-linked intellectual developmental disorder 109 2
paths to the root