Preferred Label : Charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cmt2 with vocal cord paresis, autosomal recessive; Charcot-marie-tooth disease, type 4a, axonal form; Charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the ganglioside-induced differentiation-associated protein-1
gene (GDAP1, 606598.0002);
Prefixed ID : #607706;
Origin ID : 607706;
UMLS CUI : C1843183;
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)