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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/148370
http://purl.bioontology.org/ontology/OMIM/148370
|
|---|---|
| Preferred Name | KERATOLYTIC WINTER ERYTHEMA |
| Synonyms |
OUDTSHOORN SKIN DISEASE
KWE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OUDTSHOORN SKIN DISEASE
KWE
|
|---|---|
| prefLabel | KERATOLYTIC WINTER ERYTHEMA
|
| Gene Symbol |
CTSB
RECEUP
CPSB
|
| Scope Statement | Caused by tandem duplication (7.6-15.9 kb) upstream of CTSB (116810) that disrupts a cis-acting regulatory element affecting expression of CTSB [MOLECULAR BASIS]
Onset from infancy to early adulthood [MISCELLANEOUS]
Amelioration in adulthood (in some patients) [MISCELLANEOUS]
Triggered by exposure to water and moist conditions [MISCELLANEOUS]
Exacerbated by cold weather (in some patients) [MISCELLANEOUS]
Intrafamilial severity and course highly variable [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui |
T047
T019
|
| Gene Locus | 8p22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 148370
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0406756
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |