has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of disease has feature GLA alpha-galactosidase activity metabolic disease eye disorder Fabry disease https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/fabry_disease Orphanet:324 Fabry disease, Cardiac variant icd11.foundation:66996647 Fabry disease MONDO:0010526 Fd MEDGEN:8083 ceramide trihexosidase deficiency NCIT:C84701 NANDO:2200563 hereditary dystopic lipidosis Alpha-galactosidase A deficiency NANDO:1200157 MedDRA:10016016 SCTID:16652001 Fabry's disease Anderson-Fabry disease Gla deficiency MESH:D000795 Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. NORD:1115 angiokeratoma, diffuse angiokeratoma corporis diffusum DOID:14499 GARD:0006400 UMLS:C0002986 FD OMIM:301500 diffuse angiokeratoma developmental anomaly of metabolic origin familial restrictive cardiomyopathy sphingolipidosis skin vascular disease obsolete syndromic lymphedema obsolete nephropathy secondary to a storage or other metabolic disease hereditary peripheral neuropathy