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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | HAILEY-HAILEY DISEASE | |
| Synonyms |
PEMPHIGUS, BENIGN FAMILIAL BENIGN CHRONIC PEMPHIGUS BCPM HHD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/169600 |
|
| altLabel |
PEMPHIGUS, BENIGN FAMILIAL BENIGN CHRONIC PEMPHIGUS BCPM HHD
|
|
| cui |
C0085106
|
|
| Gene Locus |
3q21-q24
|
|
| Gene Symbol |
ATP2C1 HHD BCPM
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015896 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
169600
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
HAILEY-HAILEY DISEASE
|
|
| Scope Statement |
Lesions provoked by friction, sun exposure, heat, and injury [MISCELLANEOUS] Onset third-fourth decade [MISCELLANEOUS] Caused by mutation in the ATPase, Ca(2+)-transporting, type 2C, member 1 gene (ATP2C1, 604384.0001) [MOLECULAR BASIS]
|
|
| tui |
T047
|
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