Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617756 http://purl.bioontology.org/ontology/OMIM/617756
Preferred Name	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
Synonyms	EKVP5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EKVP5
prefLabel	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
Gene Symbol	MNLIX HB3 MNLIX3 KRT83 EKVP5 KRTHB3 See more See less
Scope Statement	All family members had normal hair, teeth, and sweating [MISCELLANEOUS] Caused by mutation in the keratin 83 gene (KRT83, 602765.0003) [MOLECULAR BASIS] Onset in first 2 years of life [MISCELLANEOUS] No erythematous patches [MISCELLANEOUS] Based on report of 1 Pakistani kindred (last curated October 2017) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU059837 http://purl.bioontology.org/ontology/OMIM/MTHU059838 http://purl.bioontology.org/ontology/OMIM/MTHU059832 http://purl.bioontology.org/ontology/OMIM/MTHU059831 http://purl.bioontology.org/ontology/OMIM/MTHU001049 http://purl.bioontology.org/ontology/OMIM/MTHU059833 http://purl.bioontology.org/ontology/OMIM/MTHU059835 http://purl.bioontology.org/ontology/OMIM/MTHU059834 http://purl.bioontology.org/ontology/OMIM/MTHU013230 http://purl.bioontology.org/ontology/OMIM/MTHU059836 See more See less
tui	T047
Gene Locus	12q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617756
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4540331
OMIM Entry Type	3
OMIM MimType Value	pound

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