Metadata | |
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ID | DOID:0070147 |
Name | hereditary sensory neuropathy type 2C |
Definition | A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21820098 |
Xrefs | |
Synonyms |
hereditary sensory neuropathy type IIC [EXACT] HSN2C [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |