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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/116800
http://purl.bioontology.org/ontology/OMIM/116800
|
|---|---|
| Preferred Name | CATARACT 5, MULTIPLE TYPES |
| Synonyms |
CATARACT, MARNER TYPE
CAM
CTRCT5
CATARACT, LAMELLAR
CTM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CATARACT, MARNER TYPE
CAM
CTRCT5
CATARACT, LAMELLAR
CTM
|
|---|---|
| prefLabel | CATARACT 5, MULTIPLE TYPES
|
| Gene Symbol |
HSF4
CTM
CTRCT5
|
| Scope Statement | Caused by mutation in the heat-shock transcription factor 4 (HSF4, 602438.0001) [MOLECULAR BASIS]
Variable cataract phenotypes within a family [MISCELLANEOUS]
Cataracts are progressive but may vary between eyes of an individual [MISCELLANEOUS]
Cataracts variably present at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q21-q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 116800
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3888417
C1861821
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |