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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Cystinosis | |
| Synonyms |
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| Definitions |
An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C2976 |
|
| code |
C2976
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| Contributing_Source |
Cellosaurus
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| definition |
An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction.
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| in_subset | ||
| label |
Cystinosis
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|
| Legacy Concept Name |
Cystinosis
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| Preferred_Name |
Cystinosis
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| prefixIRI |
NCIT:C2976
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| prefLabel |
Cystinosis
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0010690
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| subClassOf |
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