A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. [ http://purl.obolibrary.org/obo/ECO_0007636 ]

Synonyms: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II

This is just here as a test because I lose it

Term information

database cross reference
  • MESH
  • UMLS_CUI
  • SNOMEDCT_US_2019_09_01
  • NCI
  • GARD
  • OMIM:300257
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050437