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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: OMIM:613402
For additional species annotation, visit the Alliance of Genome Resources.


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microcephaly, seizures, and developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by OMIM:613402
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10
ClinVar Annotator: match by term: Microcephaly, seizures and developmental delay
OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31167812 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        Developmental Disabilities 519
          microcephaly, seizures, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      microcephaly, seizures, and developmental delay 1
paths to the root