Preferred Label : Neuronopathy, distal hereditary motor, autosomal recessive 1;
Symbol : HMNR1;
CISMeF acronym : DHMN6; DSMA1; HMN6; SIANRF; SMARD1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Neuropathy, distal hereditary motor, autosomal recessive 1; Severe infantile axonal neuropathy with respiratory failure; HMN6; DHMN6; Spinal muscular atrophy with respiratory distress 1; SIANRF; Hmn VI; Spinal muscular atrophy, diaphragmatic; SMARD1; Neuronopathy, severe infantile axonal, with respiratory failure; DSMA1; Spinal muscular atrophy, distal, autosomal recessive, 1; Neuronopathy, distal hereditary motor, harding type VI;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the immunoglobulin mu binding protein 2 gene (IGHMBP2, 600502.0001);
Prefixed ID : #604320;
Origin ID : 604320;
UMLS CUI : C1858517;
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)