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Standards Ontologies Notations
familial febrile seizures 11

Summary
Synonym
  • FEB11
  • familial febrile convulsions 11
Definition
A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.
Super Class
familial febrile seizures
Disease Ontology
DOID:0111308
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57094 CPA6 carboxypeptidase A6
Displaying 1 entry
Gene ID Gene Symbol Description Source
329093 Cpa6 carboxypeptidase A6
Displaying 1 entry
Gene ID Gene Symbol Description Source
856533 ECM14 putative metallocarboxypeptidase
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024