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loading...| Preferred Name |
BENIGN CHRONIC PEMPHIGUS |
| Synonyms |
HAILEY-HAILEY DISEASE |
| ID |
http://purl.bioontology.org/ontology/OMIM/169600 |
| altLabel |
HAILEY-HAILEY DISEASE PEMPHIGUS, BENIGN FAMILIAL HHD BCPM |
| cui |
C0085106 |
| Gene Locus |
3q21-q24 |
| Gene Symbol |
ATP2C1 HHD BCPM |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016299 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
169600 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
BENIGN CHRONIC PEMPHIGUS |
| Scope Statement |
Onset third-fourth decade [MISCELLANEOUS] Lesions provoked by friction, sun exposure, heat, and injury [MISCELLANEOUS] Caused by mutation in the ATPase, Ca(2+)-transporting, type 2C, member 1 gene (ATP2C1, 604384.0001) [MOLECULAR BASIS] |
| tui |
T047 |