Fabry disease

Term ID

DOID:14499

Synonyms

• alpha galactosidase deficiency
• Alpha-galactosidase A deficiency
• Angiokeratoma Corporis Diffusum
• deficiency of melibiase
• Fabry Disease, Cardiac Variant
• Fabry's disease

Definition

A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. https://ghr.nlm.nih.gov/condition/fabry-disease

References

• GARD:6400
• ICD10CM:E75.21
• MESH:D000795
• MIM:301500
• NCI:C84701
• SNOMEDCT_US_2023_03_01:16652001
• UMLS_CUI:C0002986

Ontology

Human Disease   ( DOID:14499 )