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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/116100
http://purl.bioontology.org/ontology/OMIM/116100
|
|---|---|
| Preferred Name | CATARACT 20, MULTIPLE TYPES |
| Synonyms |
CTRCT20
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CTRCT20
|
|---|---|
| prefLabel | CATARACT 20, MULTIPLE TYPES
|
| Gene Symbol |
CRYGS
CRYG8
CTRCT20
|
| Scope Statement | Intrafamilial variability in position, size, and density of opacities [MISCELLANEOUS]
Onset in 1st decade of life [MISCELLANEOUS]
Caused by mutation in the gamma-S crystallin gene (CRYGS, 123730.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 3q27
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 116100
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3805410
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |