Metadata | |
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ID | DOID:0070154 |
Name | hereditary sensory neuropathy type 1F |
Definition | A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/24459106 |
Xrefs | |
Synonyms |
hereditary sensory neuropathy type IF [EXACT] HSN1F [EXACT] |
Parent Relationships |