congenital insensitivity to pain with anhidrosis

Summary

DOID:0070146 - congenital insensitivity to pain with anhidrosis

Disease Ontology Definition:A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.

Synonyms: CIPA, familial dysautonomia type II, hereditary sensory and autonomic neuropathy type 4, hereditary sensory and autonomic neuropathy type IV, hereditary sensory neuropathy type 4, type II familial dysautonomia, HSAN4, hereditary sensory neuropathy type IV, insensitivity to pain, congenital, with anhidrosis

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ntrk1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009746 - hereditary sensory and autonomic neuropathy type 4

MONDO:0009746 - hereditary sensory and autonomic neuropathy type 4

MIM:

MIM:256800 - INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

MIM:256800 - INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), hereditary sensory and autonomic neuropathy (is_a)