Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 14;
Symbol : HMND14;
CISMeF acronym : DHMN7B; HMN7B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Lower motor neuron disease, dynactin type; DHMN7B; Neuropathy, distal hereditary motor, harding type viib; Neuropathy, distal hereditary motor, with vocal cord paralysis, harding type viib; Hmn viib; Neuronopathy, distal hereditary motor, harding type viib; HMN7B;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the dynactin-1 gene (DCTN1, 601143.0001);
Prefixed ID : #607641;
Origin ID : 607641;
UMLS CUI : C1843315;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)