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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 non-syndromic intellectual disability 22
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Accession:DOID:0070052 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ZBTB18 on chromosome 1q44. (DO)
Synonyms:exact_synonym: Chromosome 1q43-Q44 Deletion Syndrome;   MRD22;   autosomal dominant mental retardation 22
 narrow_synonym: CHROMOSOME 1qter DELETION SYNDROME
 primary_id: MESH:C567346
 alt_id: OMIM:612337;   RDO:0015440
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by OMIM:612337
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 22
OMIM
ClinVar
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 PMID:28283832 PMID:29573576 NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4762
          Multiple Abnormalities 1764
            autosomal dominant non-syndromic intellectual disability 22 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            disease of mental health 5991
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    non-syndromic intellectual disability 269
                      autosomal dominant non-syndromic intellectual disability 175
                        autosomal dominant non-syndromic intellectual disability 22 1
paths to the root