Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/613517
http://purl.bioontology.org/ontology/OMIM/613517
Preferred Name

MICROPHTHALMIA, ISOLATED 6
Synonyms
MCOP6
MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MCOP6
MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
prefLabel
MICROPHTHALMIA, ISOLATED 6
Gene Symbol
PRSS56
MCOP6
Scope Statement
Corneal diameter decreases with decreasing axial length [MISCELLANEOUS]
Caused by mutation in serine protease 56 gene (PRSS56, 613858.0001) [MOLECULAR BASIS]
Corneal steepening is proportional to the degree of axial foreshortening [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU069062
http://purl.bioontology.org/ontology/OMIM/MTHU030386
http://purl.bioontology.org/ontology/OMIM/MTHU030391
http://purl.bioontology.org/ontology/OMIM/MTHU030392
http://purl.bioontology.org/ontology/OMIM/MTHU030389
http://purl.bioontology.org/ontology/OMIM/MTHU034329
http://purl.bioontology.org/ontology/OMIM/MTHU034327
http://purl.bioontology.org/ontology/OMIM/MTHU069061
http://purl.bioontology.org/ontology/OMIM/MTHU034328
http://purl.bioontology.org/ontology/OMIM/MTHU030390
http://purl.bioontology.org/ontology/OMIM/MTHU030388
http://purl.bioontology.org/ontology/OMIM/MTHU069063
http://purl.bioontology.org/ontology/OMIM/MTHU036449
http://purl.bioontology.org/ontology/OMIM/MTHU065560
http://purl.bioontology.org/ontology/OMIM/MTHU069060
http://purl.bioontology.org/ontology/OMIM/MTHU046476
http://purl.bioontology.org/ontology/OMIM/MTHU042979
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tui
T047
Gene Locus
2q37.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
613517
Semantic type UMLS property
Has inheritance type
cui
C3150757
OMIM Entry Type
3
OMIM MimType Value
pound
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