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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Preferred Name | Hailey-Hailey disease | |
| Synonyms |
HHD |
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| Definitions |
(HHD) - Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD. |
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| ID |
http://identifiers.org/omim/169600 |
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| altLabel |
HHD
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|
| definition |
(HHD) - Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD.
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| id |
OMIM:169600
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| notation |
OMIM:169600
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| prefLabel |
Hailey-Hailey disease
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| subClassOf |
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