Coloboma of optic nerve

Synonyms: Coloboma of optic nerve (disease); Congenital coloboma of the optic nerve; Optic nerve head pits, bilateral congenital

Summary

A cleft of the optic nerve that extends inferiorly. [from HPO]

Available tests

58 tests are in the database for this condition.

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Clinical tests (57 available)

Molecular Genetics Tests

Research tests

See all research tests for this condition (1)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

PAX6
193 tests
Also known as: AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR, PAX6
Summary: paired box 6

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Coloboma of optic nerve
  Coloboma of optic nerve
  - MedGen UID: 57832
  - Concept ID: C0155299
  - Finding: Congenital Abnormality
  Abnormality of the eye
  See: Feature record | Search on this feature
- Retinal detachment
  Retinal detachment
  - MedGen UID: 19759
  - Concept ID: C0035305
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature

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