Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

hereditary peripheral neuropathy
Synonyms

genetic peripheral neuropathy

Definitions

An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.

ID

http://purl.obolibrary.org/obo/MONDO_0020127

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0020127

database_cross_reference

UMLS:C5681733

MEDGEN:1825937

Orphanet:98497

GARD:10711

definition

An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.

exactMatch

http://identifiers.org/medgen/1825937

http://linkedlifedata.com/resource/umls/id/C5681733

http://purl.obolibrary.org/obo/Orphanet_98497

has_exact_synonym

genetic peripheral neuropathy

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5114

id

MONDO:0020127

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

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#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

hereditary peripheral neuropathy

notation

MONDO:0020127

preferred label

hereditary peripheral neuropathy

prefLabel

hereditary peripheral neuropathy

subClassOf

http://www.ebi.ac.uk/efo/EFO_0003100

http://purl.obolibrary.org/obo/MONDO_0100546

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