A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. [ https://omim.org/entry/118200 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:G60.0 (Orphanet:101082/ntbt)
  • GARD:0001246 (MONDO:equivalentTo)
  • DOID:0110152 (MONDO:equivalentTo)
  • Orphanet:101082 (OMIM:118200)
  • NCIT:C118782 (MONDO:equivalentTo)
  • UMLS:C0270912 (Orphanet:101082/e)
  • OMIM:118200 (Orphanet:101082/e)
Subsets

ordo_disease

conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.
exactMatch
  • https://omim.org/entry/118200
  • http://www.orpha.net/ORDO/Orphanet_101082
  • http://purl.obolibrary.org/obo/DOID_0110152
  • http://linkedlifedata.com/resource/umls/id/C0270912
  • http://purl.obolibrary.org/obo/NCIT_C118782
excluded from qc check
  • http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
has exact synonym
  • Charcot-Marie-Tooth disease, type 1B
  • Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ
  • hereditary motor and sensory neuropathy IB
  • HMSN IB
  • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
  • Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
  • MPZ Charcot-Marie-Tooth disease type 1
  • HMSN1B
  • CMT1B
  • Charcot-Marie-Tooth neuropathy type 1B
has related synonym
  • hereditary motor and sensory neuropathy 1B
  • HMSN1
  • HMSN 1B
  • Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy
  • CMT 1B
  • hereditary motor and sensory neuropathy 1
  • Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B
  • Charcot Marie Tooth disease type 1B
  • Charcot-Marie-Tooth neuropathy, type 1B
  • Charcot-Marie-Tooth disease, demyelinating, type 1B
id
  • MONDO:0007307
narrowMatch
  • http://apps.who.int/classifications/icd10/browse/2010/en#/G60.0
seeAlso
  • https://github.com/monarch-initiative/mondo/issues/4521