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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 xref: MESH:D000699


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Congenital Pain Insensitivity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL ClinVar PMID:21358750 PMID:22330829 PMID:25741868 PMID:26215504 PMID:28492532 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834 		JBrowse link
G Prdm12 PR/SET domain 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26005867 NCBI chr 3:35,322,962...35,341,878
Ensembl chr 3:35,322,962...35,341,878 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036948 NCBI chr 8:128,374,441...128,444,718
Ensembl chr 8:128,374,449...128,444,718 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Congenital Indifference to Pain | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL | ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated | ClinVar Annotator: match by term: Pain insensitivity
ClinVar Annotator: match by term: Congenital Indifference to Pain | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated | ClinVar Annotator: match by term: Pain insensitivity 		ClinVar PMID:374104 PMID:9536098 PMID:15955112 PMID:17167479 PMID:17470132 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		JBrowse link
Congenital Indifference to Pain, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: ASYMBOLIA FOR PAIN | ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15955112 PMID:17167479 PMID:17470132 PMID:18060017 PMID:18414213 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		JBrowse link
hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar Annotator: match by term: HSAN Type V OMIM
ClinVar		 PMID:14976160 PMID:18420729 PMID:19038341 PMID:19945432 PMID:20978020 More... NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers ClinVar PMID:24207120 PMID:25741868 NCBI chr 8:128,374,441...128,444,718
Ensembl chr 8:128,374,449...128,444,718 		JBrowse link
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:177,731,921...177,735,390 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4 ClinVar PMID:25741868 NCBI chr 2:175,553,244...175,572,676
Ensembl chr 2:175,553,293...175,572,676 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: NTRK1-related condition | ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4 OMIM
ClinVar		 PMID:77656 PMID:0233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4 ClinVar PMID:25741868 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:175,609,874...175,616,685 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | ClinVar Annotator: match by term: PPM1D-related condition OMIM
ClinVar		 PMID:23907125 PMID:24262437 PMID:25741868 PMID:28343630 PMID:28492532 More... NCBI chr10:70,670,026...70,706,030
Ensembl chr10:70,670,020...70,706,256 		JBrowse link
Marsili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Impaired thermal sensitivity ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298 		JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant | ClinVar Annotator: match by term: ZFHX2-related condition ClinVar PMID:25741868 PMID:28492532 PMID:29253101 NCBI chr15:32,536,297...32,541,537
Ensembl chr15:32,537,497...32,541,535 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO
ISS 		ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant | ClinVar Annotator: match by term: ZFHX2-related condition
OMIM:147430 		OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:29253101 NCBI chr15:32,501,755...32,541,720
Ensembl chr15:32,503,115...32,535,085 		JBrowse link
Term paths to the root