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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_213
http://www.orpha.net/ORDO/Orphanet_213
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|---|---|
| Preferred Name | Cystinosis |
| Definitions |
A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
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| Synonyms |
Protein defect of cystin transport
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| definition | A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. |
| label |
Cystinosis
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| prefLabel |
Cystinosis
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| hasDbXref |
OMIM:219800
UMLS:C4316899
MedDRA:10011777
MeSH:D003554
ICD-10:E72.0
OMIM:219900
ICD-11:5C60.1
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| notation |
ORPHA:213
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| alternative_term |
Protein defect of cystin transport
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| present_in |
Worldwide AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000
Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
United Kingdom AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000
France AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000
Denmark AND has_birth_prevalence_average_value : 0.87 AND has_birth_prevalence_range : 1-9 / 1 000 000
Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
Specific population AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000
Germany AND has_birth_prevalence_average_value : 0.59 AND has_birth_prevalence_range : 1-9 / 1 000 000
Sweden AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000
Australia AND has_birth_prevalence_average_value : 0.52 AND has_birth_prevalence_range : 1-9 / 1 000 000
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| part_of | |
| prefixIRI |
ORDO:Orphanet_213
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal recessive
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| has_age_of_onset |
Adolescent
Adult
Childhood
Infancy
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| treeView |
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