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General Information
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| Term |
hereditary sensory neuropathy type 2C |
ID (Ontology) |
DOID:0070147 (Human Disease) |
| 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. |
| Also Known As |
"hereditary sensory neuropathy type IIC" ; "HSN2C" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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hereditary sensory neuropathy type 2C | 1 | 1 | for disease ribbon | hereditary sensory neuropathy type 2C | 1 | -- | model of | hereditary sensory neuropathy type 2C | 1 | -- |
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Relationships