CDKL5 deficiency disorder

rare X-linked genetic disorder

DBpedia resource is: http://dbpedia.org/resource/CDKL5_deficiency_disorder

Abstract is: CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5.

CDKL5 deficiency disorder is …
instance of (P31):
class of diseaseQ112193867

sublass of (P279):
developmental and epileptic encephalopathyQ109835656

External links are
P4317GARD rare disease ID12173
P494ICD-10 IDG40.4
P3201Medical Dictionary for Regulatory Activities ID10071352
10071352
P492OMIM ID300672
300672
P1550Orphanet ID505652
P2892UMLS CUICL494907
C4750718
P11143WikiProjectMed IDCDKL5 deficiency disorder

P2293genetic associationCDKL5Q14907954