Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619209
http://purl.bioontology.org/ontology/OMIM/619209
Preferred Name

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7
Synonyms
EKVP7
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
EKVP7
prefLabel
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7
Gene Symbol
PERP
EKVP7
OLMS2
Scope Statement
Variable onset (birth to 3 years) [MISCELLANEOUS]
Based on report of 4 patients from 2 families (last curated February 2021) [MISCELLANEOUS]
Caused by mutation in the p53 effector related to PMP22 gene (PERP, 609301.0004) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001816
http://purl.bioontology.org/ontology/OMIM/MTHU072858
http://purl.bioontology.org/ontology/OMIM/MTHU072866
http://purl.bioontology.org/ontology/OMIM/MTHU072864
http://purl.bioontology.org/ontology/OMIM/MTHU072863
http://purl.bioontology.org/ontology/OMIM/MTHU072853
http://purl.bioontology.org/ontology/OMIM/MTHU004819
http://purl.bioontology.org/ontology/OMIM/MTHU072855
http://purl.bioontology.org/ontology/OMIM/MTHU072865
http://purl.bioontology.org/ontology/OMIM/MTHU072852
http://purl.bioontology.org/ontology/OMIM/MTHU013230
http://purl.bioontology.org/ontology/OMIM/MTHU072861
http://purl.bioontology.org/ontology/OMIM/MTHU037280
http://purl.bioontology.org/ontology/OMIM/MTHU072860
http://purl.bioontology.org/ontology/OMIM/MTHU002943
http://purl.bioontology.org/ontology/OMIM/MTHU072862
http://purl.bioontology.org/ontology/OMIM/MTHU068425
http://purl.bioontology.org/ontology/OMIM/MTHU072859
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tui
T047
Gene Locus
6q23.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619209
Semantic type UMLS property
Has inheritance type
cui
C5543106
OMIM Entry Type
3
OMIM MimType Value
pound
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