ZFIN Human Disease: hereditary sensory neuropathy type 2C

OBO ID: DOID:0070147

Term Name:	hereditary sensory neuropathy type 2C		Search Ontology:
Synonyms:	hereditary sensory neuropathy type IIC HSN2C
Definition:	A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21820098
References:	OMIM:614213
Ontology:	Human Disease ( DOID:0070147 )

Relationships

is a type of:	autosomal recessive disease hereditary sensory and autonomic neuropathy type 2 autosomal recessive disease hereditary sensory and autonomic neuropathy type 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KIF1A	kif1aa kif1ab	Neuropathy, hereditary sensory, type IIC	614213

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None