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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Fabry disease | |
| Synonyms |
Fabry Disease, Cardiac Variant alpha galactosidase deficiency Alpha-galactosidase A deficiency Fabry's disease Angiokeratoma Corporis Diffusum deficiency of melibiase |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14499 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
Fabry Disease, Cardiac Variant alpha galactosidase deficiency Alpha-galactosidase A deficiency Fabry's disease Angiokeratoma Corporis Diffusum deficiency of melibiase
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:16652001 ICD10CM:E75.21 UMLS_CUI:C0002986 MESH:D000795 OMIM:301500 GARD:6400 NCI:C84701
|
|
| 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. OMIM mapping confirmed by DO. [SN].
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| has exact synonym |
Fabry Disease, Cardiac Variant alpha galactosidase deficiency Alpha-galactosidase A deficiency Fabry's disease Angiokeratoma Corporis Diffusum deficiency of melibiase
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| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:14499
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|
| in_subset | ||
| label |
Fabry disease
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|
| notation |
DOID:14499
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|
| note |
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. OMIM mapping confirmed by DO. [SN].
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|
| preferred label |
Fabry disease
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|
| prefLabel |
Fabry disease
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| subClassOf |
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