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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000000892
http://purl.bioontology.org/ontology/NDFRT/N0000000892
|
|---|---|
| Preferred Name | Cystinosis [Disease/Finding] |
| Synonyms |
Cystine Storage Disease
Cystinosin, Defect of
Nephropathic Cystinosis
Cystine Disease
Lysosomal Cystine Transport Protein, Defect Of
Cystinoses
Cystinosis, Nephropathic
Cystine Diathesis
Cystinosis
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Cystine Storage Disease
Cystinosin, Defect of
Nephropathic Cystinosis
Cystine Disease
Lysosomal Cystine Transport Protein, Defect Of
Cystinoses
Cystinosis, Nephropathic
Cystine Diathesis
Cystinosis
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|---|---|
| prefLabel | Cystinosis [Disease/Finding]
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| MESH DEFINITION | A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
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| MESH DUI | D003554
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| MESH UI | M0005556
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| MeSH name | Cystinosis
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| type | |
| tui | T047
|
| SNOMED CID | 190681003
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| May be treated by |
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| notation | N0000000892
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| Semantic type UMLS property | |
| NUI | N0000000892
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| cui |
C2931187
C4316899
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |