Disease association ontology term - MONDO:0008086 - neuropathy, hereditary sensory and autonomic, type 1A
Term summary
- ID
- MONDO:0008086
- Name
- neuropathy, hereditary sensory and autonomic, type 1A
- Ontology or CV name
- Disease association
- Definition
- An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.