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hereditary sensory and autonomic neuropathy type 1C
Summary
- Synonym
-
- HSAN1C
- hereditary sensory and autonomic neuropathy type IC
- Definition
- A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
- Super Class
- autosomal dominant disease hereditary sensory and autonomic neuropathy type 1
External Links
- Disease Ontology
- DOID:0070157
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006937 | Impaired distal tactile sensation |
| HP:0100287 | EMG: slow motor conduction |
| HP:0003376 | Steppage gait |
| HP:0002141 | Gait imbalance |
| HP:0009763 | Limb pain |
| HP:0001026 | Penetrating foot ulcers |
| HP:0007021 | Pain insensitivity |
| HP:0002754 | Osteomyelitis |
| HP:0003409 | Distal sensory impairment of all modalities |
| HP:0008959 | Distal upper limb muscle weakness |
