Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618231 http://purl.bioontology.org/ontology/OMIM/618231
Preferred Name	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
Synonyms	EV2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EV2
prefLabel	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
Gene Symbol	EVER2 EV2 TMC8
notation	618231
Scope Statement	Onset of skin cancer in adulthood [MISCELLANEOUS] Skin cancers associated with HPV3, HPV8, HPV20, HPV38 [MISCELLANEOUS] Onset of skin lesions in late childhood (7-10 years) [MISCELLANEOUS] Susceptibility conferred by mutation in the transmembrane channel-like 8 gene (TMC8, 605829.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000128 http://purl.bioontology.org/ontology/OMIM/MTHU070611 http://purl.bioontology.org/ontology/OMIM/MTHU070606 http://purl.bioontology.org/ontology/OMIM/MTHU070607 http://purl.bioontology.org/ontology/OMIM/MTHU070610 http://purl.bioontology.org/ontology/OMIM/MTHU070609 http://purl.bioontology.org/ontology/OMIM/MTHU070608 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	17q25
tui	T033
cui	C4722258

Delete	Subject	Author	Type	Created
No notes to display