hereditary sensory and autonomic neuropathy type 2B

Term ID

DOID:0070150

Synonyms

hereditary sensory and autonomic neuropathy type IIB
HSAN2B

Definition

A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. (2)

References

OMIM:613115

Ontology

Human Disease ( DOID:0070150 )

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

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations