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CDKL5 disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0100039

A monogenic disease that has material basis in mutation in the CDKL5 gene. [ http://www.ncbi.nlm.nih.gov/pubmed/21154482 http://www.ncbi.nlm.nih.gov/pubmed/27080038 http://www.ncbi.nlm.nih.gov/pubmed/22872100 http://www.ncbi.nlm.nih.gov/pubmed/27528505 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0012173 (MONDO:equivalentTo)
abbreviation
CDKL5 [ GARD : 0012173 ]
comment
  • Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity.
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
creator
  • https://orcid.org/0000-0001-5208-3432
date
  • 2018-06-29T18:32:48Z
definition
  • A monogenic disease that has material basis in mutation in the CDKL5 gene.
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0000594
  • http://purl.obolibrary.org/obo/MONDO_0020119
  • http://purl.obolibrary.org/obo/MONDO_0017656
  • http://purl.obolibrary.org/obo/MONDO_0000508
  • http://purl.obolibrary.org/obo/MONDO_0015653
has exact synonym
  • inherited genetic disease caused by mutation in CDKL5
  • CDKL5 disorder
  • CDKL5 inherited genetic disease
has related synonym
  • CDKL5
  • CDKL5-related disorder
id
  • MONDO:0100039
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/202