Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 108
go back to main search page
Accession:DOID:0111844 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in SLC9A7 on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: MRX108;   X-linked mental retardation 108
 primary_id: OMIM:301024
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
X-linked intellectual developmental disorder 108 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 OMIM
ClinVar
PMID:25741868 PMID:30335141 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Neurodevelopmental Disorders 5692
        intellectual disability 3446
          Mental Retardation, X-Linked 719
            syndromic X-linked intellectual disability 591
              X-linked intellectual developmental disorder 108 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        syndromic X-linked intellectual disability 591
                          X-linked intellectual developmental disorder 108 1
paths to the root