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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 intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. (DO)
Synonyms:exact_synonym: AHDC1-RELATED CONDITION;   AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome;   MRD25;   XIGIS;   autosomal dominant mental retardation 25
 primary_id: MIM:615829
 xref: EFO:0009015;   GARD:13409;   NCI:C192092


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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
ISS		 OMIM:615829
ClinVar Annotator: match by term: AHDC1-related condition | ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: Xia-Gibbs syndrome		 OMIM
MouseDO
ClinVar		 PMID:4067559 PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 More... NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      Xia-Gibbs syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              developmental disorder of mental health 5596
                specific developmental disorder 4595
                  intellectual disability 4375
                    autosomal dominant intellectual developmental disorder 449
                      Xia-Gibbs syndrome 1
paths to the root