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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 48
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Accession:DOID:0080235 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. (DO)
Synonyms:exact_synonym: MRD48;   RAC1-RELATED CONDITION;   autosomal dominant mental retardation 48
 primary_id: MIM:617751
 xref: EFO:0009156


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autosomal dominant intellectual developmental disorder 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr12:16,150,411...16,170,864
Ensembl chr12:16,128,649...16,172,109 		JBrowse link
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr15:10,837,252...11,482,037
Ensembl chr15:11,131,358...11,482,040 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    Developmental Disease 14697
      Neurodevelopmental Disorders 6984
        intellectual disability 4415
          autosomal dominant intellectual developmental disorder 477
            autosomal dominant intellectual developmental disorder 48 2
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        central nervous system disease 12644
          brain disease 11865
            disease of mental health 8493
              developmental disorder of mental health 5675
                specific developmental disorder 4647
                  intellectual disability 4415
                    autosomal dominant intellectual developmental disorder 477
                      autosomal dominant intellectual developmental disorder 48 2
paths to the root