loading...| Preferred Name | cystinosis | |
| Synonyms |
cystine disease Cystinoses cystine diathesis Protein defect of cystin transport cystine storage disease cystinosis |
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| Definitions |
Cystinosis is a metabolic 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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| ID |
http://purl.obolibrary.org/obo/MONDO_0016239 |
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| altLabel |
cystine disease Cystinoses cystine diathesis Protein defect of cystin transport cystine storage disease cystinosis |
|
| definition |
Cystinosis is a metabolic 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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| has_exact_synonym |
Protein defect of cystin transport cystine storage disease cystinosis |
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| has_related_synonym |
cystine disease Cystinoses cystine diathesis |
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| label |
cystinosis |
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| prefixIRI |
MONDO:0016239 |
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| prefLabel |
cystinosis |
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| seeAlso | ||
| textual definition |
Cystinosis is a metabolic 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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| subClassOf |