OBO ID: DOID:0070251
Term Name: X-linked Emery-Dreifuss muscular dystrophy 6 Search Ontology:
Synonyms:
  • EDMD6
  • Emery-Dreifuss muscular dystrophy 6, X-linked
  • myopathy, X-linked, with postural muscle atrophy
  • XMPMA
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. https://www.ncbi.nlm.nih.gov/pubmed/18179888
References:
Ontology: Human Disease   ( DOID:0070251 )
Relationships
is a type of:
OTHER X-linked Emery-Dreifuss muscular dystrophy 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FHL1 Myopathy, X-linked, with postural muscle atrophy 300696
Emery-Dreifuss muscular dystrophy 6, X-linked 300696
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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