loading...| Preferred Name | hereditary neuropathy with liability to pressure palsies | |
| Synonyms |
neuropathy, hereditary, with liability to pressure palsies hereditary neuropathy with liability to pressure palsy polyneuropathy, familial recurrent potato-grubbing palsy neuropathy, recurrent, with pressure palsies familial recurrent polyneuropathy current pressure-sensitive neuropathy tomaculous neuropathy heterozygous microdeletion 17p11.2p12 Tomaculous neuropathy hereditary neuropathy with liability to pressure palsies hereditary liability to pressure palsies tulip-bulb digger's palsy HNPP |
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| Definitions |
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008087 |
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| database_cross_reference |
DOID:0060843 MESH:C536965 Orphanet:640 OMIM:162500 icd11.foundation:2126843932 UMLS:C0393814 SCTID:230558006 MedDRA:10069382 DECIPHER:31 MEDGEN:98291 GARD:5221 |
|
| definition |
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. |
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| has_exact_synonym |
potato-grubbing palsy neuropathy, recurrent, with pressure palsies familial recurrent polyneuropathy current pressure-sensitive neuropathy tomaculous neuropathy heterozygous microdeletion 17p11.2p12 Tomaculous neuropathy hereditary neuropathy with liability to pressure palsies hereditary liability to pressure palsies tulip-bulb digger's palsy HNPP |
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| has_related_synonym |
neuropathy, hereditary, with liability to pressure palsies hereditary neuropathy with liability to pressure palsy polyneuropathy, familial recurrent |
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| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6877 |
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| id |
MONDO:0008087 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
hereditary neuropathy with liability to pressure palsies |
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| notation |
MONDO:0008087 |
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| preferred label |
hereditary neuropathy with liability to pressure palsies |
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| prefLabel |
hereditary neuropathy with liability to pressure palsies |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0060843 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2126843932 http://identifiers.org/mesh/C536965 http://identifiers.org/snomedct/230558006 http://linkedlifedata.com/resource/umls/id/C0393814 |
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| subClassOf |