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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 recessive intellectual developmental disorder 18
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Accession:DOID:0081190 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 18;   Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy;   MRT18;   Mental Retardation, Autosomal Recessive 18
 primary_id: OMIM:614249
 alt_id: DOID:9003792


show annotations for term's descendants           Sort by:
autosomal recessive intellectual developmental disorder 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Med23 mediator complex subunit 23 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18		 OMIM
CTD
ClinVar		 PMID:21868677 PMID:25741868 PMID:25845469 PMID:27311965 PMID:28492532 More... NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        intellectual disability 4299
          autosomal recessive intellectual developmental disorder 293
            autosomal recessive intellectual developmental disorder 18 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    autosomal recessive intellectual developmental disorder 293
                      autosomal recessive intellectual developmental disorder 18 2
paths to the root