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ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Pain Insensitivity
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Accession:DOID:9008482 term browser browse the term
Definition:A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
Synonyms:exact_synonym: Congenital Indifference to Pain;   Congenital Insensitivity To Pain;   PAIN INSENSITIVITY;   channelopathy-associated insensitivity to pain;   congenital analgesia;   congenital pain indifference;   congenital pain indifferences
 primary_id: MESH:D000699
 alt_id: RDO:0004821
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Congenital Pain Insensitivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm12 PR/SET domain 12 JBrowse link 3 10,181,104 10,199,185 RGD:11554173
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:11554173
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8554872
RGD:7240710
hereditary sensory neuropathy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insrr insulin receptor-related receptor JBrowse link 2 187,161,817 187,181,400 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:7240710
RGD:8554872
Indifference to Pain, Congenital, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thtpa thiamine triphosphatase JBrowse link 15 33,755,157 33,759,117 RGD:8554872
G Zfhx2 zinc finger homeobox 2 JBrowse link 15 33,719,313 33,752,665 RGD:8554872
Indifference to Pain, Congenital, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:7240710
RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D JBrowse link 10 72,909,550 72,945,884 RGD:8554872
RGD:7240710
RGD:11554173

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