Fabry disease
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0016340
familial restrictive cardiomyopathy
excluded_subClassOf
MONDO:0019293
skin vascular disease
excluded_subClassOf
MONDO:0019520
obsolete syndromic lymphedema (obsolete MONDO:0019520)
excluded_subClassOf
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0020127
hereditary peripheral neuropathy
excluded_subClassOf
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019255
sphingolipidosis
is_a
Alpha-galactosidase A deficiency
exact
Anderson-Fabry disease
exact
FD
exact
Fabry disease
exact
Fabry's disease
exact
Fd
exact
angiokeratoma corporis diffusum
exact
angiokeratoma, diffuse
related
diffuse angiokeratoma
exact
SPAC869.07c