Human Disease Ontology

Last uploaded: November 27, 2024
Preferred Name

epithelial-stromal TGFBI dystrophy
Synonyms
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

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.

has_obo_namespace

disease_ontology

id

DOID:0060441

label

epithelial-stromal TGFBI dystrophy

notation

DOID:0060441

prefLabel

epithelial-stromal TGFBI dystrophy

subClassOf

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

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