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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 34
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Accession:DOID:0070064 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 34;   MRD34;   autosomal dominant mental retardation 34;   autosomal dominant non-syndromic intellectual disability 34
 primary_id: OMIM:616351


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autosomal dominant intellectual developmental disorder 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cert1 ceramide transporter 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34		 OMIM
CTD
ClinVar		 PMID:25533962 PMID:25741868 NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074 		JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34 ClinVar PMID:25741868 NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Neurodevelopmental Disorders 6834
        intellectual disability 4291
          autosomal dominant intellectual developmental disorder 447
            autosomal dominant intellectual developmental disorder 34 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              developmental disorder of mental health 5545
                specific developmental disorder 4507
                  intellectual disability 4291
                    autosomal dominant intellectual developmental disorder 447
                      autosomal dominant intellectual developmental disorder 34 2
paths to the root