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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:autosomal dominant intellectual developmental disorder 46
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Accession:DOID:0080237 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. (DO)
Synonyms:exact_synonym: KCNQ5-RELATED CONDITION;   MRD46;   autosomal dominant mental retardation 46
 primary_id: MIM:617601


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autosomal dominant intellectual developmental disorder 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: KCNQ5-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28669405 NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Neurodevelopmental Disorders 6959
        intellectual disability 4386
          autosomal dominant intellectual developmental disorder 456
            autosomal dominant intellectual developmental disorder 46 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            disease of mental health 8437
              developmental disorder of mental health 5651
                specific developmental disorder 4611
                  intellectual disability 4386
                    autosomal dominant intellectual developmental disorder 456
                      autosomal dominant intellectual developmental disorder 46 1
paths to the root