Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609549 http://purl.bioontology.org/ontology/OMIM/609549
Preferred Name	NANOPHTHALMOS 2
Synonyms	NANOPHTHALMIA 2 NNO2 NANOPHTHALMOS, AUTOSOMAL RECESSIVE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NANOPHTHALMIA 2 NNO2 NANOPHTHALMOS, AUTOSOMAL RECESSIVE
prefLabel	NANOPHTHALMOS 2
Gene Symbol	MCOP5 NNO2 MFRP
Scope Statement	Caused by mutation in the membrane-type frizzled-related protein gene (MFRP, 606227.0001) [MOLECULAR BASIS] Based on report of 1 Amish-Mennonite kindred (last curated August 2005) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079495 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU079496 http://purl.bioontology.org/ontology/OMIM/MTHU079494 http://purl.bioontology.org/ontology/OMIM/MTHU079498 http://purl.bioontology.org/ontology/OMIM/MTHU053617 http://purl.bioontology.org/ontology/OMIM/MTHU079497 http://purl.bioontology.org/ontology/OMIM/MTHU001780 See more See less
tui	T047
Gene Locus	11q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609549
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1836006
OMIM Entry Type	3
OMIM MimType Value	pound

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