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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617525
http://purl.bioontology.org/ontology/OMIM/617525
|
|---|---|
| Preferred Name | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 |
| Synonyms |
EKVP3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | EKVP3
|
|---|---|
| prefLabel | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
|
| Gene Symbol |
CMDR
EKVP3
HSS
ODOD
SDTY3
GJA1
ODDD
CX43
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|
| Scope Statement | Based on report of 3 unrelated patients (last curated June 2017) [MISCELLANEOUS]
Onset of skin lesions within the first year of life [MISCELLANEOUS]
Hyperpigmentation may progress to near-confluent hyperkeratosis [MISCELLANEOUS]
Caused by mutation in the alpha-1 gap junction protein (GJA1, 121014.0024) [MOLECULAR BASIS]
Normal skin at birth [MISCELLANEOUS]
Erythema induced by heat or stress [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q22.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617525
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4479619
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |