loading...| Preferred Name | hereditary neuropathy with liability to pressure palsies | |
| Synonyms |
potato-grubbing palsy familial recurrent polyneuropathy tulip-bulb digger's palsy HNPP current pressure-sensitive neuropathy tomaculous neuropathy heterozygous microdeletion 17p11.2p12 |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060843 |
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| alternative label |
potato-grubbing palsy familial recurrent polyneuropathy tulip-bulb digger's palsy HNPP current pressure-sensitive neuropathy tomaculous neuropathy heterozygous microdeletion 17p11.2p12 |
|
| database_cross_reference |
MESH:C536965 UMLS_CUI:C0393814 SNOMEDCT_US_2023_03_01:230558006 MIM:162500 ORDO:640 |
|
| 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. |
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| has exact synonym |
potato-grubbing palsy familial recurrent polyneuropathy tulip-bulb digger's palsy HNPP current pressure-sensitive neuropathy tomaculous neuropathy heterozygous microdeletion 17p11.2p12 |
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0060843 |
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| in_subset | ||
| label |
hereditary neuropathy with liability to pressure palsies |
|
| notation |
DOID:0060843 |
|
| note |
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. |
|
| preferred label |
hereditary neuropathy with liability to pressure palsies |
|
| prefLabel |
hereditary neuropathy with liability to pressure palsies |
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| subClassOf |