Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/611040
http://purl.bioontology.org/ontology/OMIM/611040
Preferred Name

MICROPHTHALMIA, ISOLATED 5
Synonyms
MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN
MCOP5
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN
MCOP5
prefLabel
MICROPHTHALMIA, ISOLATED 5
Gene Symbol
MCOP5
NNO2
MFRP
Scope Statement
Caused by mutation in the membrane-type frizzled-related protein gene (MFRP, 606227.0005) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU046278
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU068820
http://purl.bioontology.org/ontology/OMIM/MTHU036378
http://purl.bioontology.org/ontology/OMIM/MTHU021771
http://purl.bioontology.org/ontology/OMIM/MTHU034003
http://purl.bioontology.org/ontology/OMIM/MTHU046276
http://purl.bioontology.org/ontology/OMIM/MTHU068821
http://purl.bioontology.org/ontology/OMIM/MTHU021776
http://purl.bioontology.org/ontology/OMIM/MTHU021774
http://purl.bioontology.org/ontology/OMIM/MTHU068822
http://purl.bioontology.org/ontology/OMIM/MTHU003279
http://purl.bioontology.org/ontology/OMIM/MTHU021777
http://purl.bioontology.org/ontology/OMIM/MTHU021773
http://purl.bioontology.org/ontology/OMIM/MTHU001845
http://purl.bioontology.org/ontology/OMIM/MTHU026372
http://purl.bioontology.org/ontology/OMIM/MTHU068819
http://purl.bioontology.org/ontology/OMIM/MTHU036450
http://purl.bioontology.org/ontology/OMIM/MTHU046279
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tui
T047
Gene Locus
11q23
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
611040
Semantic type UMLS property
Has inheritance type
cui
C1970236
OMIM Entry Type
3
OMIM MimType Value
pound
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