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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 11
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Accession:DOID:0070041 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. (DO)
Synonyms:exact_synonym: EPB41L1-RELATED CONDITION;   INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 11;   MRD11;   autosomal dominant mental retardation 11;   autosomal dominant non-syndromic intellectual disability 11;   chromosome 20q11-q12 deletion syndrome
 primary_id: MIM:614257


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autosomal dominant intellectual developmental disorder 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41l1 erythrocyte membrane protein band 4.1-like 1 ISO ClinVar Annotator: match by term: EPB41L1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 11 OMIM
ClinVar		 PMID:11050113 PMID:19503082 PMID:21376300 PMID:25326635 PMID:25741868 More... NCBI chr 3:144,929,195...145,052,723
Ensembl chr 3:144,984,640...145,052,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Neurodevelopmental Disorders 6958
        intellectual disability 4384
          autosomal dominant intellectual developmental disorder 458
            autosomal dominant intellectual developmental disorder 11 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        central nervous system disease 12612
          brain disease 11839
            disease of mental health 8435
              developmental disorder of mental health 5649
                specific developmental disorder 4609
                  intellectual disability 4384
                    autosomal dominant intellectual developmental disorder 458
                      autosomal dominant intellectual developmental disorder 11 1
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