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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant nocturnal frontal lobe epilepsy
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Accession:DOID:0060681 term browser browse the term
Definition:A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)
Synonyms:exact_synonym: Adnfle;   ENFL;   autosomal dominant epilepsy;   nocturnal epilepsy, frontal lobe type;   nocturnal frontal lobe epilepsy
 primary_id: MESH:C579932
 alt_id: RDO:0015864
 xref: GARD:11918;   OMIM:PS600513;   ORDO:98784
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autosomal dominant nocturnal frontal lobe epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:737782
RGD:8554872
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Prima1 proline rich membrane anchor 1 JBrowse link 6 127,075,954 127,127,985 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:7240710
RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                autosomal dominant nocturnal frontal lobe epilepsy 13
                  autosomal dominant nocturnal frontal lobe epilepsy 1 1
                  autosomal dominant nocturnal frontal lobe epilepsy 2 0
                  autosomal dominant nocturnal frontal lobe epilepsy 3 1
                  autosomal dominant nocturnal frontal lobe epilepsy 4 1
                  autosomal dominant nocturnal frontal lobe epilepsy 5 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            epilepsy 1077
              focal epilepsy 128
                frontal lobe epilepsy 14
                  autosomal dominant nocturnal frontal lobe epilepsy 13
                    autosomal dominant nocturnal frontal lobe epilepsy 1 1
                    autosomal dominant nocturnal frontal lobe epilepsy 2 0
                    autosomal dominant nocturnal frontal lobe epilepsy 3 1
                    autosomal dominant nocturnal frontal lobe epilepsy 4 1
                    autosomal dominant nocturnal frontal lobe epilepsy 5 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.