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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:0012534 | Dysesthesia |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0000970 | Anhidrosis |
| HP:0007350 | Hyperreflexia in upper limbs |
| HP:0011462 | Young adult onset |
| HP:0003596 | Middle age onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007460 | Autoamputation of digits |
| HP:0011463 | Childhood onset |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
