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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/226400
http://purl.bioontology.org/ontology/OMIM/226400
|
|---|---|
| Preferred Name | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 |
| Synonyms |
EV
EPIDERMODYSPLASIA VERRUCIFORMIS
EV1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EV
EPIDERMODYSPLASIA VERRUCIFORMIS
EV1
|
|---|---|
| prefLabel | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
|
| Gene Symbol |
TMC6
EV1
EVER1
|
| Scope Statement | Caused by mutation in the transmembrane channel-like 6 gene (TMC6, 605828.0001): Caused by mutation in the transmembrane channel-like 8 gene (TMC8, 605829.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui |
T033
T191
|
| Gene Locus | 17q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 226400
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0014522
C4722564
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |