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Disease Ontology Browser
autosomal recessive congenital indifference to pain (DOID:0070688)
Alliance: disease page
Synonyms: channelopathy-associated insensitivity to pain; congenital indifference to pain; congenital insensitivity to pain
Alt IDs: OMIM:243000, ORDO:88642, UMLS_CUI:C5680180
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/07/2026
MGI 6.24 		The Jackson Laboratory