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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant mental retardation 56
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Accession:DOID:0080226 term browser browse the term
Definition:A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: MRD56
 primary_id: OMIM:617854
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autosomal dominant mental retardation 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cltc clathrin heavy chain JBrowse link 10 74,014,560 74,070,578 RGD:8554872
RGD:7240710
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Neurodevelopmental Disorders 4071
        intellectual disability 1705
          syndromic intellectual disability 672
            autosomal dominant mental retardation 56 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    syndromic intellectual disability 672
                      autosomal dominant mental retardation 56 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.