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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609741
http://purl.bioontology.org/ontology/OMIM/609741
|
|---|---|
| Preferred Name | CATARACT 22, MULTIPLE TYPES |
| Synonyms |
CTRCT22
CATCN2
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CTRCT22
CATCN2
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
|
|---|---|
| prefLabel | CATARACT 22, MULTIPLE TYPES
|
| Gene Symbol |
CRYB3
CRYBB3
CATCN2
CTRCT22
|
| Scope Statement | Two Pakistani families with a homozygous CRYBB3 mutation have been reported (last curated August 2014) [MISCELLANEOUS]
Caused by mutation in the beta-B3 crystallin gene (CRYBB3, 123630.0001) [MOLECULAR BASIS]
One 4-generation Caucasian Italian family with a heterozygous CRYBB3 mutation has been reported (last curated August 2014) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q11.2-q12.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 609741
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1857853
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |