hereditary sensory and autonomic neuropathy type 2A

Term ID

DOID:0070155

Synonyms

hereditary sensory and autonomic neuropathy type IIA
HSAN2A

Definition

A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (2)

References

OMIM:201300

Ontology

Human Disease ( DOID:0070155 )

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