loading...| Preferred Name | Cystinosis | |
| Synonyms |
Cystine Storage Disease Cystinoses, Nephropathic Cystine Diseases Cystinosin, Defect of Nephropathic Cystinosis Storage Diseases, Cystine Cystine Storage Diseases Nephropathic Cystinoses Cystine Disease Defect of Cystinosin Storage Disease, Cystine Diathesis, Cystine Lysosomal Cystine Transport Protein, Defect Of Cystinoses Cystinosis, Nephropathic Diatheses, Cystine Cystine Diatheses Cystine Diathesis |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D003554 |
|
| altLabel |
Cystine Storage Disease Cystinoses, Nephropathic Cystine Diseases Cystinosin, Defect of Nephropathic Cystinosis Storage Diseases, Cystine Cystine Storage Diseases Nephropathic Cystinoses Cystine Disease Defect of Cystinosin Storage Disease, Cystine Diathesis, Cystine Lysosomal Cystine Transport Protein, Defect Of Cystinoses Cystinosis, Nephropathic Diatheses, Cystine Cystine Diatheses Cystine Diathesis |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C2931187 C4316899 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19660101 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535335 http://purl.bioontology.org/ontology/MESH/C535765 |
|
| MDA |
19990101 |
|
| MMR |
20181010 |
|
| MN |
C18.452.648.595.377 C16.320.565.595.377 |
|
| notation |
D003554 |
|
| prefLabel |
Cystinosis |
|
| TERMUI |
T811537 T782078 T782080 T811535 T817200 T834226 T782079 T841234 T010323 |
|
| TH |
OMIM (2013) NLM (1966) NLM (2012) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |