Preferred Name |
Fabry disease |
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Synonyms |
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Definitions |
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. |
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ID |
http://purl.obolibrary.org/obo/DOID_14499 |
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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. |
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imported from | ||
label |
Fabry disease |
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prefixIRI |
DOID:14499 |
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prefLabel |
Fabry disease |
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subClassOf |
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