Online Mendelian Inheritance in Man - DARIER-WHITE DISEASE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/124200 http://purl.bioontology.org/ontology/OMIM/124200
Preferred Name	DARIER-WHITE DISEASE
Synonyms	DAR DARIER DISEASE, SEGMENTAL DD KERATOSIS FOLLICULARIS DARIER DISEASE DARIER DISEASE, ACRAL HEMORRHAGIC TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DAR DARIER DISEASE, SEGMENTAL DD KERATOSIS FOLLICULARIS DARIER DISEASE DARIER DISEASE, ACRAL HEMORRHAGIC TYPE See more See less
prefLabel	DARIER-WHITE DISEASE
Gene Symbol	ATP2B RHABDO2 DAR ATP2A2
Scope Statement	Itch, pain, and body malodor often [MISCELLANEOUS] Age of onset, 6-20 years [MISCELLANEOUS] Acral hemorrhagic variant [MISCELLANEOUS] Caused by mutation in the ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2 gene (ATP2A2, 108740.0001) [MOLECULAR BASIS] Skin lesions exacerbated by heat, exercise (sweating), and sunlight [MISCELLANEOUS] Allelic to acrokeratosis verruciformis (101900) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018726 http://purl.bioontology.org/ontology/OMIM/MTHU018724 http://purl.bioontology.org/ontology/OMIM/MTHU018733 http://purl.bioontology.org/ontology/OMIM/MTHU018735 http://purl.bioontology.org/ontology/OMIM/MTHU018727 http://purl.bioontology.org/ontology/OMIM/MTHU004319 http://purl.bioontology.org/ontology/OMIM/MTHU015654 http://purl.bioontology.org/ontology/OMIM/MTHU036661 http://purl.bioontology.org/ontology/OMIM/MTHU018734 http://purl.bioontology.org/ontology/OMIM/MTHU018728 http://purl.bioontology.org/ontology/OMIM/MTHU018738 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU018731 http://purl.bioontology.org/ontology/OMIM/MTHU018736 http://purl.bioontology.org/ontology/OMIM/MTHU023395 http://purl.bioontology.org/ontology/OMIM/MTHU018732 http://purl.bioontology.org/ontology/OMIM/MTHU007784 http://purl.bioontology.org/ontology/OMIM/MTHU067108 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU018729 http://purl.bioontology.org/ontology/OMIM/MTHU018737 See more See less
tui	T047
Gene Locus	12q23-q24.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	124200
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1852296 C1852297 C0022595
OMIM Entry Type	3
OMIM MimType Value	pound

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