Preferred Label : Charcot-marie-tooth disease, axonal, type 2k;
Symbol : CMT2K;
CISMeF acronym : CMT2K;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Charcot-marie-tooth disease, axonal, autosomal recessive, type 2k; Charcot-marie-tooth neuropathy, axonal, type 2k;
Included titles and symbols : Charcot-marie-tooth disease, autosomal dominant, type 2k;
Inheritance : Autosomal recessive; Autosomal dominant;
Molecular basis : Caused by mutation in the ganglioside-induced differentiation-associated protein-1
gene (GDAP1, 606598.0002);
Prefixed ID : #607831;
Origin ID : 607831;
UMLS CUI : C1842983;
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)