FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Fabry disease ID (Ontology) DOID:14499 (Human 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.
Also Known As "alpha galactosidase deficiency" ; "Alpha-galactosidase A deficiency" ; "Angiokeratoma Corporis Diffusum" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Fabry disease       2      2      1
 for disease ribbon | Fabry disease       --       1       --
 model of | Fabry disease       2      1       --
Spanning Tree (Parents/Children)
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  lipid storage disease
   |__sphingolipidosis
       |__Fabry disease  5 rec.
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Synonyms
  • "alpha galactosidase deficiency" EXACT
    "Alpha-galactosidase A deficiency" EXACT
    "Angiokeratoma Corporis Diffusum" EXACT
    "deficiency of melibiase" EXACT
    "Fabry Disease, Cardiac Variant" EXACT
    "Fabry's disease" EXACT
Secondary IDs
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GARD:6400
ICD10CM:E75.21
MESH:D000795
MIM:301500
NCI:C84701
SNOMEDCT_US_2023_03_01:16652001
UMLS_CUI:C0002986