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Cell Culture Ontology
| Preferred Name | cystinosis | |
| Synonyms |
cystine disease cystine diathesis Cystinoses cystine storage disease Protein defect of cystin transport cystinosis |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016239 |
|
| database_cross_reference |
NANDO:2200571 Orphanet:213 UMLS:C4316899 MedDRA:10011777 ICD10CM:E72.04 MESH:D003554 MEDGEN:1384792 NANDO:1200161 SCTID:190681003 icd11.foundation:733715856 DOID:1064 GARD:6236 NCIT:C2976 NORD:1028
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|
| 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.
|
|
| disease disrupts | ||
| disease has location | ||
| has_exact_synonym |
cystine storage disease Protein defect of cystin transport cystinosis
|
|
| has_related_synonym |
cystine disease cystine diathesis Cystinoses
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|
| id |
MONDO:0016239
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
cystinosis
|
|
| notation |
MONDO:0016239
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|
| preferred label |
cystinosis
|
|
| prefLabel |
cystinosis
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|
| see also | ||
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_213 http://linkedlifedata.com/resource/umls/id/C4316899 http://purl.obolibrary.org/obo/DOID_1064 http://purl.bioontology.org/ontology/ICD10CM/E72.04 http://identifiers.org/mesh/D003554 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/733715856 http://identifiers.org/snomedct/190681003 |
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| subClassOf |
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