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hereditary sensory and autonomic neuropathy type 5
Summary
- Synonym
-
- HSAN5
- hereditary sensory and autonomic neuropathy type V
- 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.
- Super Class
- autosomal recessive disease hereditary sensory neuropathy
External Links
- Disease Ontology
- DOID:0070145
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
