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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES
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Accession:DOID:9009298 term browser browse the term
Definition:This disease is a neurologic disorder characterized by developmental delay, mildly impaired intellectual development, seizures, and polymicrogyria on brain imaging.
Synonyms:exact_synonym: IDDPMGS
 primary_id: MIM:621021


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INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcp1 t-complex 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES ClinVar
OMIM		 PMID:39480921 NCBI chr 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Neurodevelopmental Disorders 6978
        intellectual disability 4396
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10965
            autosomal genetic disease 10454
              autosomal dominant disease 6803
                complex cortical dysplasia with other brain malformations 1643
                  Malformations of Cortical Development, Group III 30
                    polymicrogyria 23
                      INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES 1
paths to the root