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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:intellectual developmental disorder with cardiac arrhythmia
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Accession:DOID:0081008 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: GNB5-related intellectual disability-cardiac arrhythmia syndrome;   IDDCA
 primary_id: MIM:617173
 alt_id: DOID:9007723
 xref: NCI:C164154;   ORDO:542306


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intellectual developmental disorder with cardiac arrhythmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac arrhythmia OMIM
ClinVar		 PMID:21766168 PMID:25741868 PMID:25741873 PMID:27523599 PMID:27677260 More... NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      intellectual developmental disorder with cardiac arrhythmia 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    intellectual developmental disorder with cardiac arrhythmia 1
paths to the root