OBO ID: DOID:0050437
Term Name: Danon disease Search Ontology:
Synonyms:
  • ANTOPOL DISEASE
  • PSEUDOGLYCOGENOSIS II
Definition: A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. https://rarediseases.org/rare-diseases/danon-disease/
References:
Ontology: Human Disease   ( DOID:0050437 )
OTHER Danon disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMP2 Danon disease 300257
ZEBRAFISH MODELS
Fish Conditions Citations
lamp2xu082/xu082 (WIK) standard conditions Dvornikov et al., 2019
PHENOTYPE No data available

CITATIONS (1)