ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant nocturnal frontal lobe epilepsy 5
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Accession:DOID:0060686 term browser browse the term
Definition:An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: ENFL5;   Epilepsy, Nocturnal Frontal Lobe, 5;   Epilepsy, Nocturnal Frontal Lobe, Type 5
 primary_id: OMIM:615005;   RDO:9000290
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autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872

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Path 1
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  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        genetic disease 6388
          monogenic disease 3218
            autosomal genetic disease 2156
              autosomal dominant disease 1111
                autosomal dominant nocturnal frontal lobe epilepsy 13
                  autosomal dominant nocturnal frontal lobe epilepsy 5 2
Path 2
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  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        central nervous system disease 6945
          brain disease 6451
            epilepsy 1021
              focal epilepsy 128
                frontal lobe epilepsy 14
                  autosomal dominant nocturnal frontal lobe epilepsy 13
                    autosomal dominant nocturnal frontal lobe epilepsy 5 2
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