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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary neuropathy with liability to pressure palsies
Summary
- Synonym
-
- HNPP
- current pressure-sensitive neuropathy
- familial recurrent polyneuropathy
- heterozygous microdeletion 17p11.2p12
- potato-grubbing palsy
- tomaculous neuropathy
- tulip-bulb digger's palsy
- 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.
- Super Class
- autosomal dominant disease neuropathy
External Links
- Disease Ontology
- DOID:0060843
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
