Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620253 http://purl.bioontology.org/ontology/OMIM/620253
Preferred Name	CATARACT 50 WITH OR WITHOUT GLAUCOMA
Synonyms	CTRCT50
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CTRCT50
prefLabel	CATARACT 50 WITH OR WITHOUT GLAUCOMA
Gene Symbol	TRPM3 NEDFSS KIAA1616 MLSN2 CTRCT50 LTRPC3 See more See less
Scope Statement	Intrafamilial variability [MISCELLANEOUS] Caused by mutation in the transient receptor potential cation channel, subfamily M, member-3 gene (TRPM3, 608961.0002) [MOLECULAR BASIS] Age of diagnosis of glaucoma ranges from birth to fifth decade [MISCELLANEOUS] Over half of patients with cataract also have glaucoma [MISCELLANEOUS] Age of diagnosis of cataract ranges from birth to fourth decade [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU077614 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU045568
tui	T047
Gene Locus	9q21.12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620253
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5830299
OMIM Entry Type	3
OMIM MimType Value	pound

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