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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:microcephaly, seizures, and developmental delay
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Accession:DOID:0080457 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: DEE10;   EIEE10;   MCSZ;   developmental and epileptic encephalopathy 10;   early infantile epileptic encephalopathy 10
 primary_id: MIM:613402


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Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Neurodevelopmental Disorders 2634
        Developmental Disabilities 451
          microcephaly, seizures, and developmental delay 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            epilepsy 1112
              electroclinical syndrome 381
                neonatal period electroclinical syndrome 206
                  early infantile epileptic encephalopathy 193
                    microcephaly, seizures, and developmental delay 2
paths to the root