Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Congenital Pain Insensitivity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm12 PR/SET domain 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26005867 NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036948 NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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: Pain insensitivity
ClinVar PMID:374104 PMID:9536098 PMID:17470132 PMID:17576681 PMID:19304393 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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
OMIM
PMID:14976160 PMID:18420729 PMID:19038341 PMID:19945432 PMID:20978020 More... NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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 IV ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: HSAN 4
ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II
OMIM
ClinVar
PMID:77656 PMID:0233776 PMID:8696348 PMID:9536098 PMID:10090906 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
JBrowse link
Indifference to Pain, Congenital, 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: Indifference to pain, congenital, autosomal recessive
ClinVar Annotator: match by OMIM:243000
OMIM
ClinVar
PMID:15955112 PMID:17167479 PMID:17470132 PMID:18414213 PMID:18518989 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
ClinVar
OMIM
PMID:23907125 PMID:24262437 PMID:25741868 PMID:28343630 PMID:28852847 More... NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
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:28492532 PMID:32581362 NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant ClinVar PMID:29253101 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant ClinVar
OMIM
PMID:29253101 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
JBrowse link

Term paths to the root