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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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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has_obo_namespace |
disease_ontology |
|
id |
DOID:0060441 |
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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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subClassOf |
Create mapping