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

ONTOLOGY REPORT - ANNOTATIONS


Term:Xia-Gibbs syndrome
go back to main search page
Accession:DOID:0070055 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3. (DO)
Synonyms:exact_synonym: MRD25;   autosomal dominant mental retardation 25
 primary_id: OMIM:615829
 alt_id: DOID:9004543
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Xia-Gibbs syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Xia-Gibbs syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    non-syndromic intellectual disability 185
                      autosomal dominant non-syndromic intellectual disability 105
                        Xia-Gibbs syndrome 1
paths to the root

NHLBI Logo

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