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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:Xia-Gibbs syndrome
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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;   XIGIS;   autosomal dominant mental retardation 25
 primary_id: OMIM:615829
 xref: GARD:13409
For additional species annotation, visit the Alliance of Genome Resources.


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Xia-Gibbs syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Xia-Gibbs syndrome
ClinVar Annotator: match by OMIM:615829
OMIM
ClinVar
PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 PMID:25741869 PMID:31474318 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Xia-Gibbs syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    non-syndromic intellectual disability 268
                      autosomal dominant non-syndromic intellectual disability 175
                        Xia-Gibbs syndrome 1
paths to the root