Disease association ontology term - MONDO:0010683 - X-linked myotubular myopathy

Term summary

ID

MONDO:0010683

Name

X-linked myotubular myopathy

Ontology or CV name

Disease association

Definition

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.

Parents

• excluded_subClassOf congenital structural myopathy
• excluded_subClassOf obsolete qualitative or quantitative defects of myotubularin (obsolete MONDO:0016154)
• excluded_subClassOf X-linked syndromic intellectual disability
• is_a X-linked disease
• is_a centronuclear myopathy

Annotation