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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 51
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Accession:DOID:0080232 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: KMT5B-RELATED CONDITION;   MRD51;   autosomal dominant mental retardation 51
 primary_id: MIM:617788


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autosomal dominant intellectual developmental disorder 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: KMT5B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 OMIM
ClinVar		 PMID:25363768 PMID:25741868 PMID:28191889 PMID:28492532 PMID:29276005 More... NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Neurodevelopmental Disorders 6958
        intellectual disability 4384
          autosomal dominant intellectual developmental disorder 458
            autosomal dominant intellectual developmental disorder 51 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        central nervous system disease 12612
          brain disease 11839
            disease of mental health 8435
              developmental disorder of mental health 5649
                specific developmental disorder 4609
                  intellectual disability 4384
                    autosomal dominant intellectual developmental disorder 458
                      autosomal dominant intellectual developmental disorder 51 1
paths to the root