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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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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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|
| 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
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|
| id |
DOID:0060441
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|
| label |
epithelial-stromal TGFBI dystrophy
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|
| notation |
DOID:0060441
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|
| note |
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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|
| preferred label |
epithelial-stromal TGFBI dystrophy
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|
| prefLabel |
epithelial-stromal TGFBI dystrophy
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| subClassOf |
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