Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant mental retardation 55
go back to main search page
Accession:DOID:0080227 term browser browse the term
Definition:A syndromic intellectual disability characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. (DO)
Synonyms:exact_synonym: MRD55;   autosomal dominant mental retardation 55 with seizures
 primary_id: OMIM:617831
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal dominant mental retardation 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
RGD:7240710

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 55 1
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 55 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.