loading...| Preferred Name | Cystinosis | |
| Synonyms |
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| Definitions |
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036683 |
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| Database_Cross_Reference |
AOD:0000005736 DO:DOID:1064 SNOMEDCT_US:190681003 MTH:NOCODE SNOMEDCT_US:367374009 SNMI:D6-B5300 SNOMEDCT_US:190683000 CSP:1849-0607 MDR:10071112 NCI:C2976 SNMI:D6-B5000 CHV:0000003556 DXP:U000431 NDFRT:N0000000892 MDR:10011777 RCD:C3000 MSH:D003554 SNOMEDCT_US:111398009 ICD10CM:E72.04 LCH_NW:sh85035212 OMIM:219800 LCH:U001244 MTHICD9:270.0 MEDCIN:33538 OMIM:606272 SNM:D-1731 SNOMEDCT_US:62332007 |
|
| Definition |
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17. |
|
| label |
Cystinosis |
|
| MCID |
MC00793530 |
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| PMOID |
PMO:00036683 |
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| prefixIRI |
pmo:PMO_00036683 |
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| prefLabel |
Cystinosis |
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| Synonym |
Nephropathic Cystinoses Cystinoses, Nephropathic Cystine Diseases Defect of Cystinosin Cystine Disease CYSTINOSIS, NEPHROPATHIC Nephropathic Cystinosis Fanconi's syndrome, childhood type Cystinoses CTNS Cystinosis [Disease/Finding] Cystinosis (disorder) [Ambiguous] CYSTINOSIN, DEFECT OF cystinosis (diagnosis) Cystinosis [dup] (disorder) Cystinosis, NOS Lysosomal Cystine Transport Protein, Defect Of Diathesis, Cystine Cystine storage disease cystine storage disease Nephropathic cystinosis cystinosis Cystine Storage Disease Cystine diathesis Cystinosis [dup] Defect of Cystinosins Cystine Diatheses Storage Disease, Cystine Diatheses, Cystine LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF CYSTINOSIS 6-B5 CYSTINOSIS Cystinosis, Nephropathic Cystine disease Cystinosin, Defect of Cystine Storage Diseases Cystinosis (disorder) Cystine Diathesis Storage Diseases, Cystine |
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| Tree Number |
T9.8.4.14.3.1 T9.11.1.12.3.1 |
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| subClassOf |