darier disease

Preferred Label : darier disease;

MeSH definition : An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.;

MeSH synonym : darier white disease; Darier-White disease; Darier-White diseases; disease, Darier-White; diseases, Darier-White; keratosis follicularis; disease, darier; disease, darier's; darier's disease; dariers disease;

CISMeF synonym : Darier;

Related MeSH term : acrokeratosis verruciformis of hopf; acantholytic dyskeratotic epidermal nevus; Hopf Acrokeratosis Verruciformis; Hopf Disease; Disease, Hopf; Diseases, Hopf; Hopf Diseases; Acrokeratosis Verruciformis; Verruciformis, Acrokeratosis; Acantholytic Dyskeratotic Epidermal Nevi;

Wikipedia link : https://en.wikipedia.org/wiki/Darier disease;

Details

Origin ID

D007644;

UMLS CUI

C0022595;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Acantholytic dyskeratotic epidermal naevus [ICD-11 More detail]
- Acrokeratosis Verruciformis [NCIt concept]
- Acrokeratosis verruciformis of Hopf [ORDO Disease]
- Acrokeratosis verruciformis of Hopf [ICD-11 More detail]
Currated CISMeF NLP mapping
- Darier Disease [NCIt concept]
- Darier disease [PASCAL descriptor]
- Darier disease [Disease (Nov.)]
- Darier disease [ICD-11 More detail]
- Darier disease [ORDO Disease]
- Darier disease (disorder) [SNOMED CT concept]
- Darier's disease [MedDRA LLT]
- Darier-white disease [OMIM Phenotype]
- Follicular keratosis (disorder) [SNOMED CT concept]
- Keratosis follicular [MedDRA Preferred Term]
- keratosis follicularis [SNOMED Notion]
DO Cross reference
- keratosis follicularis [DO Concept]
Manual NTBT mappings (CISMeF)
- Other epidermal disorder [ORDO Disease]
- Other genetic epidermal disease [ORDO Disease]
ORDO relation(s)
- Darier disease [ORDO Disease]
Record concept(s)
- acantholytic dyskeratotic epidermal nevus [MeSH concept]
- acrokeratosis verruciformis of hopf [MeSH concept]
- darier disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- burnett schwartz berberian syndrome [MeSH Supplementary Concept]
- darier disease, acral hemorrhagic type [MeSH Supplementary Concept]
- darier disease, segmental [MeSH Supplementary Concept]
- keratosis follicularis dwarfism cerebral atrophy [MeSH Supplementary Concept]
- keratosis follicularis spinulosa decalvans, autosomal dominant [MeSH Supplementary Concept]
- kyrle disease [MeSH Supplementary Concept]
- van den bosch syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Acantholytic dyskeratotic epidermal nevus (disorder) [SNOMED CT concept]
- Acrokeratosis Verruciformis [NCIt concept]
- Acrokeratosis verruciformis [PASCAL descriptor]
- Acrokeratosis verruciformis [MedDRA Preferred Term]
- Acrokeratosis verruciformis [OMIM Phenotype]
- Acrokeratosis verruciformis of Hopf [ORDO Disease]
- Acrokeratosis verruciformis of Hopf (disorder) [SNOMED CT concept]
- acrokeratosis verruciformis [DO Concept]
- acrokeratosis verruciformis [Disease (Nov.)]
- acrokeratosis verruciformis [SNOMED Notion]
- keratosis follicularis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Darier Disease [NCIt concept]
- Darier disease [ORDO Disease]
- Darier disease [PASCAL descriptor]
- Darier disease [Disease (Nov.)]
- Darier disease (disorder) [SNOMED CT concept]
- Darier's disease [MedDRA LLT]
- Darier-white disease [OMIM Phenotype]
- Keratosis follicular [MedDRA Preferred Term]
- keratosis follicularis [DO Concept]
- keratosis follicularis [SNOMED Notion]

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