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| Term | hereditary neuropathy with liability to pressure palsies | ID (Ontology) | DOID:0060843 (Human Disease) |
| Definition | A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. | ||
| Also Known As | "current pressure-sensitive neuropathy" ; "familial recurrent polyneuropathy" ; "heterozygous microdeletion 17p11.2p12" (for all, see Synonyms field below) | ||
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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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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease_____ peripheral nervous system disease | |__neuropathy_____________________| hereditary neuropathy with liability to pressure palsies |
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| Is a |
autosomal dominant disease neuropathy |
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External Crossreferences & Linkouts
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MESH:C536965 MIM:162500 ORDO:640 SNOMEDCT_US_2023_03_01:230558006 UMLS_CUI:C0393814 |
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