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DO Term : hereditary sensory neuropathy type 4 [DOID:0070146] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
ORDO:642,
256800,
SNOMEDCT_US_2023_03_01:62985007,
OMIM:256800,
NCI:C118633,
hereditary sensory neuropathy type IV,
insensitivity to pain, congenital, with anhidrosis,
MESH:D009477,
GARD:3006,
UMLS_CUI:C0020074

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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