General Information of Disease (ID: DISXXXEE)

Disease Name Qualitative or quantitative protein defects in neuromuscular diseases
Disease Hierarchy
DISCFBRD: Neurological disorder
DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
Disease Identifiers
MONDO ID
MONDO_0016139
UMLS CUI
C5680807
MedGen ID
1842598
Orphanet ID
207049