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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:developmental delay and seizures with or without movement abnormalities
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Accession:DOID:0080473 term browser browse the term
Definition:A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: DEDSM
 broad_synonym: DHDDS-RELATED CONDITION
 primary_id: MIM:617836

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developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities OMIM
ClinVar		 PMID:25741868 PMID:27343064 PMID:27652284 PMID:28492532 PMID:29100083 More... NCBI chrNW_004955452:5,811,053...5,844,992
Ensembl chrNW_004955452:5,811,053...5,845,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12609
      Neurodevelopmental Disorders 6313
        intellectual disability 4002
          syndromic intellectual disability 683
            developmental delay and seizures with or without movement abnormalities 1
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      nervous system disease 12348
        central nervous system disease 11070
          brain disease 10386
            disease of mental health 7455
              developmental disorder of mental health 5066
                specific developmental disorder 4194
                  intellectual disability 4002
                    syndromic intellectual disability 683
                      developmental delay and seizures with or without movement abnormalities 1
paths to the root