hereditary sensory neuropathy type 4

Summary

DOID:0070146 - hereditary sensory neuropathy type 4

Disease Ontology Definition:A hereditary sensory 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: 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, Ontobee

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