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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:0000365 | Hearing impairment |
| HP:0000962 | Hyperkeratosis |
| HP:0001026 | Penetrating foot ulcers |
| HP:0001058 | Poor wound healing |
| HP:0001324 | Muscle weakness |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002141 | Gait imbalance |
| HP:0002270 | Abnormality of the autonomic nervous system |
| HP:0002460 | Distal muscle weakness |
| HP:0002540 | Inability to walk |
