DARIER-WHITE DISEASE

DAR

http://purl.bioontology.org/ontology/OMIM/124200

DAR

DARIER DISEASE, SEGMENTAL

DD

KERATOSIS FOLLICULARIS

DARIER DISEASE

DARIER DISEASE, ACRAL HEMORRHAGIC TYPE

C1852296

C1852297

C0022595

12q23-q24.1

ATP2B

DAR

ATP2A2

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

Phenotype description, molecular basis known.

124200

3

pound

DARIER-WHITE DISEASE

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]

T047