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ONTOLOGY REPORT - ANNOTATIONS


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
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autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        Congenital Abnormalities 3810
          Multiple Abnormalities 1664
            autosomal dominant non-syndromic intellectual disability 22 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  intellectual disability 1788
                    non-syndromic intellectual disability 187
                      autosomal dominant non-syndromic intellectual disability 107
                        autosomal dominant non-syndromic intellectual disability 22 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.