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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