Fabry Disease, Cardiac Variant - Ontology Browser

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Term:

Fabry Disease, Cardiac Variant (DOID:9000020)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (2) Squirrel: (1) Pig: (2) Naked Mole-rat: (1) Green Monkey: (1)

Parent Terms

Term With Siblings

Child Terms

Fabry disease + is-a

Left Ventricular Hypertrophy + is-a

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Fabry Disease, Cardiac Variant

A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008

Synonyms
Primary IDs:	MESH:C567062
Definition Sources:	MESH:C567062

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.