ZFIN Human Disease: hereditary sensory neuropathy type 4

OBO ID: DOID:0070146

Term Name:	hereditary sensory neuropathy type 4		Search Ontology:
Synonyms:	hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis
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. (2)
References:	GARD:3006 MESH:D009477 NCI:C118633 OMIM:256800 ORDO:642 SNOMEDCT_US_2023_03_01:62985007 UMLS_CUI:C0020074
Ontology:	Human Disease ( DOID:0070146 )

Relationships

is a type of:	autosomal recessive disease hereditary sensory neuropathy autosomal recessive disease hereditary sensory neuropathy Show first 5 Terms

OTHER hereditary sensory neuropathy type 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NTRK1	ntrk1	Insensitivity to pain, congenital, with anhidrosis	256800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None