| Metadata | |
|---|---|
| ID | DOID:0070688 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070688 Copy |
| Name | autosomal recessive congenital indifference to pain |
| Definition | A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common. https://pmc.ncbi.nlm.nih.gov/articles/PMC7212082/, https://pubmed.ncbi.nlm.nih.gov/22845492/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:1279831004 |
| SKOS |
exactMatch UMLS_CUI:C5680180 exactMatch ORDO:88642 exactMatch MIM:243000 exactMatch GARD:12267 |
| Subsets |
DO_rare_slim |
| Synonyms |
channelopathy-associated insensitivity to pain [EXACT] congenital indifference to pain [RELATED] |
| Parent Relationships |
is_a autosomal recessive disease is_a neuropathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |