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autosomal dominant intellectual developmental disorder 42 - Ontology Report - Rat Genome Database

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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 42
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Accession:DOID:0070072 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. (DO)
Synonyms:exact_synonym: GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME;   MRD42;   autosomal dominant mental retardation 42;   autosomal dominant non-syndromic intellectual disability 42
 primary_id: MIM:616973

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autosomal dominant intellectual developmental disorder 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42 OMIM
ClinVar		 PMID:9596582 PMID:19344873 PMID:24033266 PMID:25485910 PMID:25741868 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Neurodevelopmental Disorders 6972
        intellectual disability 4391
          autosomal dominant intellectual developmental disorder 464
            autosomal dominant intellectual developmental disorder 42 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  intellectual disability 4391
                    autosomal dominant intellectual developmental disorder 464
                      autosomal dominant intellectual developmental disorder 42 1
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