Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616851 http://purl.bioontology.org/ontology/OMIM/616851
Preferred Name	CATARACT 45
Synonyms	CTRCT45
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CTRCT45
prefLabel	CATARACT 45
Gene Symbol	SPAR3 SIPA1L3 KIAA0545 CTRCT45 SPAL3
Scope Statement	Based on report of 2 affected sisters (last curated March 2016) [MISCELLANEOUS] Cataract evident at birth [MISCELLANEOUS] Caused by mutation in the SIPA1-like protein-3 gene (SIPA1L3, 616655.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU053089
tui	T047
Gene Locus	19q13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616851
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225182
OMIM Entry Type	3
OMIM MimType Value	pound

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