coloboma

Findings

No curated finding names coloboma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• eye disorder

Narrower terms (8)

• calloso-genital dysplasia
• coloboma of eye lens
• coloboma of eyelid
• coloboma of macula
• coloboma of optic nerve
• coloboma, ocular, autosomal dominant
• coloboma, ocular, autosomal recessive
• microphthalmia, isolated, with coloboma

Resolves to: coloboma

Also called

coloboma of the eyeocular coloboma