Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

COLOBOMA, OCULAR, AUTOSOMAL DOMINANT

Synonyms

COLOBOMA, UVEORETINAL

ID

http://purl.bioontology.org/ontology/OMIM/120200

altLabel

COLOBOMA, UVEORETINAL

COLOBOMA OF IRIS, CHOROID, AND RETINA

COI

cui

C4554007

C0009363

Gene Locus

11p13

Gene Symbol

FVH1

MGDA

AN2

ASGD5

PAX6

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

120200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

COLOBOMA, OCULAR, AUTOSOMAL DOMINANT

tui

T019

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