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: DOID:9005661;   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

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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Multiple Abnormalities 1276
            autosomal dominant non-syndromic intellectual disability 22 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    non-syndromic intellectual disability 163
                      autosomal dominant non-syndromic intellectual disability 85
                        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.