OBO ID: DOID:0070248
Term Name: autosomal recessive Emery-Dreifuss muscular dystrophy 3 Search Ontology:
Synonyms:
  • EDMD3
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of LMNA on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/10739764
References:
Ontology: Human Disease   (DOID:0070248)
OTHER autosomal recessive Emery-Dreifuss muscular dystrophy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNA Emery-Dreifuss muscular dystrophy 3, autosomal recessive 616516
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None