BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

epithelial-stromal TGFBI dystrophy

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.

ID

http://purl.obolibrary.org/obo/DOID_0060441

created_by

elvira

creation_date

2015-10-16T16:39:25Z

id

DOID:0060441

label

epithelial-stromal TGFBI dystrophy

notation

DOID:0060441

prefLabel

epithelial-stromal TGFBI dystrophy

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.

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_2566

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http://purl.obolibrary.org/obo/MONDO_0000764 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0000764 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_0060441 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0060441 Human Disease Ontology / 人类疾病本体 SAME_URI