Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Coloboma of optic nerve

Synonyms

COLON

Definitions

(COLON) - An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk.

ID

http://identifiers.org/omim/120430

altLabel

COLON

definition

(COLON) - An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk.

id

OMIM:120430

notation

OMIM:120430

prefLabel

Coloboma of optic nerve

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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