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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 non-syndromic intellectual disability 19
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Accession:DOID:0070049 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1. (DO)
Synonyms:exact_synonym: MRD19;   NEDSDV;   autosomal dominant mental retardation 19;   neurodevelopmental disorder with spastic diplegia and visual defects
 primary_id: OMIM:615075
 alt_id: RDO:9000543
 xref: NCI:C176897
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant non-syndromic intellectual disability 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 OMIM:615075
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 19
OMIM
ClinVar
PMID:2614104 PMID:18414213 PMID:23033978 PMID:24033266 PMID:24614104 PMID:24668549 PMID:25326635 PMID:25326637 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:27959697 PMID:28514307 PMID:28575650 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Neurodevelopmental Disorders 5567
        intellectual disability 3385
          non-syndromic intellectual disability 402
            autosomal dominant non-syndromic intellectual disability 308
              autosomal dominant non-syndromic intellectual disability 19 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            disease of mental health 6932
              developmental disorder of mental health 4273
                specific developmental disorder 3532
                  intellectual disability 3385
                    non-syndromic intellectual disability 402
                      autosomal dominant non-syndromic intellectual disability 308
                        autosomal dominant non-syndromic intellectual disability 19 1
paths to the root