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://purl.obolibrary.org/obo/DOID_1064 |
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| 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. |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:62332007 NCI:C2976 UMLS_CUI:C2931187 OMIM:219750 SNOMEDCT_US_2016_03_01:367374009 SNOMEDCT_US_2016_03_01:111398009 ORDO:213 ICD10CM:E72.04 OMIM:219800 SNOMEDCT_US_2016_03_01:190681003 SNOMEDCT_US_2016_03_01:190683000 OMIM:219900 MESH:D003554 |
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| hasExactSynonym |
cystine storage disease |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:1064 |
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| imported from | ||
| inSubset | ||
| label |
cystinosis |
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| prefixIRI |
DOID:1064 |
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| prefLabel |
cystinosis |
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| subClassOf |
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