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.
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
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 Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar Annotator: match by term: HSAN Type V
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis
ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | ClinVar Annotator: match by term: PPM1D-related condition
ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant
OMIM:147430 ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant
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