Preferred Label : Neuronopathy, distal hereditary motor, X-linked;
Symbol : HMNX;
CISMeF acronym : DSMAX; SMAX3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Spinal muscular atrophy, distal, X-linked recessive; DSMAX; SMAX3; Spinal muscular atrophy, distal, X-linked 3; Neuropathy, distal hereditary motor, X-linked;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the ATPase, Cu(2 )-transporting, alpha polypeptide (ATP7A, 300011.0015);
Prefixed ID : #300489;
Origin ID : 300489;
UMLS CUI : C1845359;
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)
Validated automatic mappings to BTNT