loading...| Preferred Name | MHC class I deficiency | |
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| Definitions |
A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060009 |
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| definition |
A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. |
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| imported from | ||
| label |
MHC class I deficiency |
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| prefixIRI |
DOID:0060009 |
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| prefLabel |
MHC class I deficiency |
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