hereditary sensory and autonomic neuropathy type 2

Term ID

DOID:0070161

Synonyms

hereditary sensory and autonomic neuropathy type II
HSAN2

Definition

A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. https://www.ncbi.nlm.nih.gov/pubmed/21089229

References

GARD:3976
MESH:D002607
MESH:D009477
ORDO:970
SNOMEDCT_US_2023_03_01:30508001
UMLS_CUI:C0020072
UMLS_CUI:C0270914

Ontology

Human Disease ( DOID:0070161 )

Relationships

is a type of: hereditary sensory neuropathy

hereditary sensory neuropathy Show first 5 Terms
has subtype: hereditary sensory and autonomic neuropathy type 2A hereditary sensory and autonomic neuropathy type 2B hereditary sensory neuropathy type 2C

hereditary sensory and autonomic neuropathy type 2A hereditary sensory and autonomic neuropathy type 2B hereditary sensory neuropathy type 2C Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations