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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: DOID:9005661;   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 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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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            autosomal dominant non-syndromic intellectual disability 22 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    non-syndromic intellectual disability 159
                      autosomal dominant non-syndromic intellectual disability 84
                        autosomal dominant non-syndromic intellectual disability 22 1
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