Disease

Charcot-Marie-Tooth disease recessive intermediate B

Name: Charcot-Marie-Tooth disease recessive intermediate B
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B Charcot-Marie-Tooth neuropathy recessive intermediate B CMTRIB

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.

Synonyms

autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Charcot-Marie-Tooth neuropathy recessive intermediate B

Cross References

ICD10CM:G60.0
MIM:613641

Parent Terms

autosomal recessive disease
Charcot-Marie-Tooth disease intermediate type

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

Gene	Species	Association	Disease Qualifier	Disease	Evidence	Based On	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Alleles

Allele	Species	Association	Disease Qualifier	Disease	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Models

Model	Species	Experimental condition	Association	Disease Qualifiers	Disease	Condition Modifier	Genetic Modifier	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page