Version 2.78

Description

Includes sequence analysis of MPZ, Connexin32, NFL, GDAP1 and MFN2 Source: Regenstrief Institute

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
CMT axonal gene
Part Display Name
CMT axonal gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-24
Construct for LOINC Short Name
CMT2 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33227-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CMT 轴突基因
Synonyms: Charcot-Marie Tooth 病, 2 型;Charcot-Marie Tooth 病, I 型;Charcot-Marie-Tooth 病, 2 型;Charcot-Marie-Tooth 病, II 型;CMT;CMT2;GJB、MPZ 及 NEFL 基因突变;腓骨肌萎缩症, 2 型;轴突 HMSN;轴突 HMSN (遗传性运动和感觉神经病)
es-ES Spanish (Spain) Gen axonal CTM
it-IT Italian (Italy) CMT, gene assonale
Synonyms: Gene assonale CMT
tr-TR Turkish (Turkey) CMT akzonal geni
ru-RU Russian (Russian Federation) CMT аксональный ген
nl-NL Dutch (Netherlands) CMT axonaal gen