Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615458 http://purl.bioontology.org/ontology/OMIM/615458
Preferred Name	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
Synonyms	MMCAT
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MMCAT
prefLabel	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
Gene Symbol	ADAMTS18 MMCAT
Scope Statement	Caused by mutation in the disintegrin-like and metalloproteinase with thrombospondin type 1 motif 18 gene (ADAMTS18, 607512.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU069694 http://purl.bioontology.org/ontology/OMIM/MTHU044299 http://purl.bioontology.org/ontology/OMIM/MTHU034378 http://purl.bioontology.org/ontology/OMIM/MTHU005671 http://purl.bioontology.org/ontology/OMIM/MTHU003098 http://purl.bioontology.org/ontology/OMIM/MTHU032795 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU044298 See more See less
tui	T047
Gene Locus	16q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615458
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3809567
OMIM Entry Type	3
OMIM MimType Value	pound

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