Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/115900 http://purl.bioontology.org/ontology/OMIM/115900
Preferred Name	CATARACT 42
Synonyms	CTRCT42
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CTRCT42
prefLabel	CATARACT 42
Gene Symbol	CRYBA2 CTRCT42
notation	115900
Scope Statement	Caused by mutation in the beta-A2 crystallin gene (CRYBA2, 600836.0001) [MOLECULAR BASIS] One large 4-generation Uruguayan family reported (last curated August 2014) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU006490 http://purl.bioontology.org/ontology/OMIM/MTHU067046
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	2q34-q36
tui	T047
cui	C4011454

Delete	Subject	Author	Type	Created
No notes to display