Online Mendelian Inheritance in Man - MICROPHTHALMIA/COLOBOMA 12 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/120200 http://purl.bioontology.org/ontology/OMIM/120200
Preferred Name	MICROPHTHALMIA/COLOBOMA 12
Synonyms	MCOPCB12 COLOBOMA, OCULAR, AUTOSOMAL DOMINANT COLOBOMA, UVEORETINAL COLOBOMA OF IRIS, CHOROID, AND RETINA COI
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MCOPCB12 COLOBOMA, OCULAR, AUTOSOMAL DOMINANT COLOBOMA, UVEORETINAL COLOBOMA OF IRIS, CHOROID, AND RETINA COI
prefLabel	MICROPHTHALMIA/COLOBOMA 12
Gene Symbol	FVH1 MGDA AN2 ASGD5 PAX6
Scope Statement	Caused by mutation in the paired box gene-6 gene (PAX6, 607108.0019) [MOLECULAR BASIS] Inter- and intrafamilial phenotypic variability [MISCELLANEOUS] Some patients exhibit neurodevelopmental anomalies [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU067890 http://purl.bioontology.org/ontology/OMIM/MTHU078139 http://purl.bioontology.org/ontology/OMIM/MTHU009278 http://purl.bioontology.org/ontology/OMIM/MTHU068730 http://purl.bioontology.org/ontology/OMIM/MTHU036526 http://purl.bioontology.org/ontology/OMIM/MTHU073519 http://purl.bioontology.org/ontology/OMIM/MTHU019107 http://purl.bioontology.org/ontology/OMIM/MTHU001370 http://purl.bioontology.org/ontology/OMIM/MTHU006928 http://purl.bioontology.org/ontology/OMIM/MTHU064350 http://purl.bioontology.org/ontology/OMIM/MTHU037147 http://purl.bioontology.org/ontology/OMIM/MTHU053769 http://purl.bioontology.org/ontology/OMIM/MTHU078140 http://purl.bioontology.org/ontology/OMIM/MTHU007655 http://purl.bioontology.org/ontology/OMIM/MTHU004136 http://purl.bioontology.org/ontology/OMIM/MTHU000241 http://purl.bioontology.org/ontology/OMIM/MTHU019106 http://purl.bioontology.org/ontology/OMIM/MTHU001312 http://purl.bioontology.org/ontology/OMIM/MTHU078141 http://purl.bioontology.org/ontology/OMIM/MTHU078138 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU023711 http://purl.bioontology.org/ontology/OMIM/MTHU013074 http://purl.bioontology.org/ontology/OMIM/MTHU036530 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047 T019
Gene Locus	11p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	120200
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4554007 C5886785
OMIM Entry Type	3
OMIM MimType Value	pound

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