Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/123570 http://purl.bioontology.org/ontology/OMIM/123570
Preferred Name	CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED
Synonyms	CRYPTOP ANKYLOBLEPHARON, SIMPLE CRYPTOPHTHALMOS WITH MICROPHTHALMIA AND PETERS ANOMALY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CRYPTOP ANKYLOBLEPHARON, SIMPLE CRYPTOPHTHALMOS WITH MICROPHTHALMIA AND PETERS ANOMALY
prefLabel	CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED
Gene Symbol	FREM2 CRYPTOP FRASRS2
Scope Statement	Cryptophthalmos may be unilateral or bilateral [MISCELLANEOUS] Caused by mutation in the FRAS1-related extracellular matrix protein-2 gene (FREM2, 608945.0004) [MOLECULAR BASIS] Normal brain morphology [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU040649 http://purl.bioontology.org/ontology/OMIM/MTHU063269 http://purl.bioontology.org/ontology/OMIM/MTHU063268 http://purl.bioontology.org/ontology/OMIM/MTHU040648 http://purl.bioontology.org/ontology/OMIM/MTHU063267 http://purl.bioontology.org/ontology/OMIM/MTHU063263 http://purl.bioontology.org/ontology/OMIM/MTHU063266 http://purl.bioontology.org/ontology/OMIM/MTHU063264 http://purl.bioontology.org/ontology/OMIM/MTHU063265 See more See less
tui	T047
Gene Locus	13q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	123570
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1852453
OMIM Entry Type	3
OMIM MimType Value	pound

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