hereditary sensory and autonomic neuropathy type 1C

Term ID

DOID:0070157

Synonyms

hereditary sensory and autonomic neuropathy type IC
HSAN1C

Definition

A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/20920666

References

OMIM:613640

Ontology

Human Disease ( DOID:0070157 )

Relationships

is a type of: autosomal dominant disease hereditary sensory and autonomic neuropathy type 1

autosomal dominant disease hereditary sensory and autonomic neuropathy type 1 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations