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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal dominant mental retardation 55
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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.


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autosomal dominant mental retardation 55 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES ClinVar
OMIM
PMID:25066056, PMID:25741868, PMID:28492532, PMID:29100083 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          syndromic intellectual disability 684
            autosomal dominant mental retardation 55 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      autosomal dominant mental retardation 55 1
paths to the root

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