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Summary Literature (1)
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

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

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ntrk1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), hereditary sensory neuropathy (is_a)


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Version: 4.14.0
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