|  Help  |  About  |  Contact Us

DO Term : progressive myoclonus epilepsy 3 [DOID:0111446] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21.
  • synonyms:
  • Progressive myoclonic epilepsy due to KCTD7 deficiency,
  • EPM3,
  • GARD:2167,
  • UMLS_CUI:C2673257,
  • ORDO:263516,
  • 611726,
  • Progressive myoclonus epilepsy type 3,
  • CLN14 disease,
  • neuronal ceroid lipofuscinosis 14,
  • PME type 3,
  • SNOMEDCT_US_2023_03_01:783064000,
  • MESH:C567095,
  • OMIM:611726
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents