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BioAssay Ontology
Last uploaded:
February 21, 2024
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| Preferred Name | Hailey-Hailey disease | |
| Synonyms |
BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial |
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| Definitions |
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050429 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
UMLS_CUI:C0085106 OMIM:169600 MESH:D016506 SNOMEDCT_US_2020_03_01:79468000 ICD10CM:Q82.8 GARD:6559 NCI:C82865
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| has exact synonym |
BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial
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| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0050429
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| imported from | ||
| in_subset | ||
| label |
Hailey-Hailey disease
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|
| notation |
DOID:0050429
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| prefLabel |
Hailey-Hailey disease
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|
| textual definition |
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
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| subClassOf |
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