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BioAssay Ontology
Last uploaded:
February 21, 2024
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Preferred Name | epithelial-stromal TGFBI dystrophy | |
Synonyms |
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Definitions |
A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. |
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ID |
http://purl.obolibrary.org/obo/DOID_0060441 |
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created_by |
elvira
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creation_date |
2015-10-16T16:39:25Z
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has_obo_namespace |
disease_ontology
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id |
DOID:0060441
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imported from | ||
label |
epithelial-stromal TGFBI dystrophy
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notation |
DOID:0060441
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prefLabel |
epithelial-stromal TGFBI dystrophy
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textual definition |
A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.
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subClassOf |
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