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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


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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 NUSAP1 nucleolar and spindle associated protein 1 IAGP ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr15:41,332,881...41,381,046
Ensembl chr15:41,320,794...41,381,050 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP
EXP		 ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    Developmental Disease 28613
      Neurodevelopmental Disorders 13582
        Developmental Disabilities 1479
          microcephaly, seizures, and developmental delay 2
Path 2
Term Annotations click to browse term
  disease 35773
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24638
        genetic disease 23830
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal dominant disease 10968
                complex cortical dysplasia with other brain malformations 2181
                  Malformations of Cortical Development, Group I 1869
                    microcephaly 1528
                      microcephaly, seizures, and developmental delay 2
paths to the root