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General Information
ZIRC
OBO ID: DOID:12270
Term Name: coloboma Search Ontology:
Synonyms:
  • coloboma of eye
  • coloboma of macula
  • congenital ocular coloboma
Definition: An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (2)
References:
Ontology: Human Disease   (DOID:12270)
Relationships
is a type of:
OTHER coloboma PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAX6 ?Coloboma, ocular 120200
SALL2 ?Coloboma, ocular, autosomal recessive 216820
PHENOTYPE No data available

CITATIONS (15)