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
  • ICD10:G60.0 (Orphanet:101082)
  • GARD:0001246 (Orphanet-shared)
  • OMIM:118200 (Orphanet:101082)
  • UMLS:C0270912 (Orphanet:101082)
  • DOID:0110152 (MONDO:equivalentTo)
  • NCIT:C118782 (MONDO:equivalentTo)
  • Orphanet:101082 (OMIM:118200)
Subsets

ordo_disease

abbreviation
HMSN IB [ DOID:0110152 ]

abbreviation
CMT1B [ https://omim.org/entry/118200 Orphanet:101082 MONDO:Lexical DOID:0110152 ]

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

http://linkedlifedata.com/resource/umls/id/C0270912

http://purl.obolibrary.org/obo/NCIT_C118782

http://purl.obolibrary.org/obo/DOID_0110152

http://identifiers.org/omim/118200

http://www.orpha.net/ORDO/Orphanet_101082

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

has exact synonym

HMSN1B

HMSN IB

hereditary motor and sensory neuropathy IB

Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ

MPZ Charcot-Marie-Tooth disease type 1

Charcot-Marie-Tooth neuropathy type 1B

Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy

autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B

CMT1B

has related synonym

Charcot-Marie-Tooth disease, demyelinating, type 1B

Charcot Marie Tooth disease type 1B

hereditary motor and sensory neuropathy 1B

HMSN 1B

HMSN1

hereditary motor and sensory neuropathy 1

Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B

Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy

CMT 1B

Charcot-Marie-Tooth neuropathy, type 1B

id

MONDO:0007307