loading...| 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 |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000892 |
|
| altLabel |
Cystine Storage Disease Cystinosin, Defect of Nephropathic Cystinosis Cystine Disease Lysosomal Cystine Transport Protein, Defect Of Cystinoses Cystinosis, Nephropathic Cystine Diathesis Cystinosis |
|
| cui |
C2931187 C4316899 |
|
| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000188204 http://purl.bioontology.org/ontology/NDFRT/N0000160638 http://purl.bioontology.org/ontology/NDFRT/N0000148385 http://purl.bioontology.org/ontology/NDFRT/N0000160637 http://purl.bioontology.org/ontology/NDFRT/N0000187039 http://purl.bioontology.org/ontology/NDFRT/N0000021988 |
|
| 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. |
|
| MESH DUI |
D003554 |
|
| MeSH name |
Cystinosis |
|
| MESH UI |
M0005556 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000892 |
|
| NUI |
N0000000892 |
|
| prefLabel |
Cystinosis [Disease/Finding] |
|
| SNOMED CID |
190681003 |
|
| tui |
T047 |
|
| subClassOf |