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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D016506
http://purl.bioontology.org/ontology/MESH/D016506
|
|---|---|
| Preferred Name | Pemphigus, Benign Familial |
| Definitions |
An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.
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| Synonyms |
Chronic Benign Familial Pemphigus
Familial Pemphigus, Benign
Hailey-Hailey Disease
Familial Benign Chronic Pemphigus
Benign Chronic Pemphigus
Hailey Hailey Disease
Benign Familial Pemphigus
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease. |
|---|---|
| altLabel |
Chronic Benign Familial Pemphigus
Familial Pemphigus, Benign
Hailey-Hailey Disease
Familial Benign Chronic Pemphigus
Benign Chronic Pemphigus
Hailey Hailey Disease
Benign Familial Pemphigus
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|
| prefLabel |
Pemphigus, Benign Familial
|
| TH |
OMIM (2013)
NLM (2020)
NLM (1992)
NLM (2011)
ORD (2010)
|
| notation |
D016506
|
| DX |
19920101
|
| Machine permutation |
92
|
| MN |
C17.800.865.858
C16.320.850.700
C17.800.827.700
|
| MMR |
20190222
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| HN |
92
|
| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
|
| MDA |
19910103
|
| type | |
| tui |
T047
|
| cui |
C0085106
|
| Inverse of AQ |
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|
| TERMUI |
T049367
T049368
T049366
T769478
T000948176
|
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