Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Preferred Name	Glaucoma 3, primary congenital, A
Synonyms	GLC3A
Definitions	(GLC3A) - An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
ID	http://identifiers.org/omim/231300
altLabel	GLC3A
definition	(GLC3A) - An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
id	OMIM:231300
notation	OMIM:231300
prefLabel	Glaucoma 3, primary congenital, A
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/231300	REXO	SAME_URI
http://identifiers.org/omim/231300	GEXO	SAME_URI
http://purl.bioontology.org/ontology/OMIM/231300	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_231300	CCO	LOOM
http://purl.bioontology.org/ontology/MESH/C565547	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565547	RH-MESH	LOOM
http://identifiers.org/omim/231300	REXO	LOOM
http://identifiers.org/omim/231300	GEXO	LOOM