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Metadata
ID DOID:0070145
Name hereditary sensory and autonomic neuropathy type 5
Definition A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
https://www.ncbi.nlm.nih.gov/pubmed/14976160, https://www.ncbi.nlm.nih.gov/pubmed/77656
Xrefs

GARD:12328

MESH:D000699

MESH:D009477

NCI:C125386

OMIM:608654

ORDO:608654

UMLS_CUI:C0002768

UMLS_CUI:C0020075

Subsets

NCIthesaurus

Synonyms

hereditary sensory and autonomic neuropathy type V [EXACT]

HSAN5 [EXACT]

Parent Relationships

is_a hereditary sensory neuropathy

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