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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 19
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Accession:DOID:0070049 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. (DO)
Synonyms:exact_synonym: CTNNB1-RELATED SYNDROMIC INTELLECTUAL DISABILITY;   MRD19;   NEDSDV;   autosomal dominant mental retardation 19;   autosomal dominant non-syndromic intellectual disability 19;   neurodevelopmental disorder with spastic diplegia and visual defects
 xref: MIM:615075;   MONDO:0014035;   NCI:C176897


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autosomal dominant intellectual developmental disorder 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS OMIM
ClinVar		 PMID:2614104 PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		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 19 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 19 1
paths to the root