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Orphanet Rare Disease Ontology
| Preferred Name | Fabry disease | |
| Synonyms |
Alpha-galactosidase A deficiency FD Anderson-Fabry disease |
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| Definitions |
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_324 |
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| alternative_term |
Alpha-galactosidase A deficiency FD Anderson-Fabry disease
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|
| definition |
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324 |
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| has_age_of_onset |
Adolescent Adult Childhood
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| has_inheritance |
X-linked dominant X-linked recessive
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| hasDbXref |
UMLS:C0002986 MedDRA:10016016 ICD-10:E75.2 MeSH:D000795 ICD-11:5C56.01 OMIM:301500
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| label |
Fabry disease
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|
| notation |
ORPHA:324
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| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_79225 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_183478 http://www.orpha.net/ORDO/Orphanet_371442 http://www.orpha.net/ORDO/Orphanet_217638 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_98644 |
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| prefixIRI |
ORDO:Orphanet_324
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|
| prefLabel |
Fabry disease
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| present_in |
Netherlands AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 6.66 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.118 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 1.11 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 6.96 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.52 AND has_birth_prevalence_range : 1-9 / 1 000 000 Turkey AND has_birth_prevalence_average_value : 0.015 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : 1-5 / 10 000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_79225 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_183478 http://www.orpha.net/ORDO/Orphanet_371442 http://www.orpha.net/ORDO/Orphanet_217638 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_98644 |
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| subClassOf |
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