Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4d;
Symbol : CMT4D;
CISMeF acronym : CMT4D; HMSNL; HMSN4D;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : HMSN4D; HMSNL; Neuropathy, hereditary motor and sensory, lom type; Charcot-marie-tooth neuropathy, type 4d; Charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the N-myc downstream regulated gene-1 (NDRG1, 605262.0001);
Prefixed ID : #601455;
Origin ID : 601455;
UMLS CUI : C1832334;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
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UMLS correspondences (same concept)