OBO ID: DOID:0111222
Term Name: centronuclear myopathy 5 Search Ontology:
Synonyms:
  • CNM5
Definition: An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. https://www.ncbi.nlm.nih.gov/pubmed/25087613
References:
Ontology: Human Disease   ( DOID:0111222 )
Relationships
is a type of:
OTHER centronuclear myopathy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPEG Centronuclear myopathy 5 615959
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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