Preferred Name |
Fabry disease |
|
Synonyms |
Alpha-galactosidase A deficiency angiokeratoma corporis diffusum Fabry's disease deficiency of melibiase Fabry disease alpha galactosidase deficiency diffuse angiokeratoma Fd Anderson-Fabry disease ceramide trihexosidase deficiency Fabry disease, Cardiac variant Gla deficiency hereditary dystopic lipidosis angiokeratoma, diffuse |
|
Definitions |
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0010526 |
|
disease has feature | ||
has_exact_synonym |
Alpha-galactosidase A deficiency angiokeratoma corporis diffusum Fabry's disease deficiency of melibiase Fabry disease alpha galactosidase deficiency diffuse angiokeratoma Fd Anderson-Fabry disease |
|
has_related_synonym |
ceramide trihexosidase deficiency Fabry disease, Cardiac variant Gla deficiency hereditary dystopic lipidosis angiokeratoma, diffuse |
|
IAO_0000233 | ||
label |
Fabry disease |
|
prefixIRI |
MONDO:0010526 |
|
prefLabel |
Fabry disease |
|
textual definition |
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100191 http://purl.obolibrary.org/obo/MONDO_0015327 http://purl.obolibrary.org/obo/MONDO_0016340 http://purl.obolibrary.org/obo/MONDO_0019255 |