Disease association ontology term - MONDO:0010526 - Fabry disease

Term summary

ID

MONDO:0010526

Name

Fabry disease

Ontology or CV name

Disease association

Definition

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Parents

• excluded_subClassOf eye disorder
• excluded_subClassOf familial restrictive cardiomyopathy
• excluded_subClassOf skin vascular disease
• excluded_subClassOf obsolete syndromic lymphedema (obsolete MONDO:0019520)
• excluded_subClassOf obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
• excluded_subClassOf hereditary peripheral neuropathy
• is_a developmental anomaly of metabolic origin
• is_a sphingolipidosis

Annotation