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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 intellectual developmental disorder 55
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Accession:DOID:0080227 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that is 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 intellectual developmental disorder 55 with seizures;   autosomal dominant mental retardation 55;   autosomal dominant mental retardation 55 with seizures
 primary_id: OMIM:617831


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autosomal dominant intellectual developmental disorder 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: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES OMIM
ClinVar		 PMID:16199547 PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 More... NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          autosomal dominant intellectual developmental disorder 447
            autosomal dominant intellectual developmental disorder 55 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    autosomal dominant intellectual developmental disorder 447
                      autosomal dominant intellectual developmental disorder 55 1
paths to the root