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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 52
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Accession:DOID:0080231 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: ASH1L-RELATED CONDITION;   ASH1L-RELATED DISORDER;   MRD52;   autosomal dominant mental retardation 52
 primary_id: OMIM:617796
 xref: EFO:0009152



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autosomal dominant intellectual developmental disorder 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: ASH1L-Related Disorder | ClinVar Annotator: match by term: ASH1L-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52 OMIM
ClinVar
PMID:23033978 PMID:25363760 PMID:25741868 PMID:25961944 PMID:27824329 More... NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Neurodevelopmental Disorders 6803
        intellectual disability 4267
          autosomal dominant intellectual developmental disorder 424
            autosomal dominant intellectual developmental disorder 52 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            disease of mental health 8276
              developmental disorder of mental health 5516
                specific developmental disorder 4477
                  intellectual disability 4267
                    autosomal dominant intellectual developmental disorder 424
                      autosomal dominant intellectual developmental disorder 52 1
paths to the root