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| Term | Blau syndrome | ID (Ontology) | DOID:0050678 (Human Disease) |
| Definition | A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. | ||
| Also Known As | "ARTHROCUTANEOUVEAL GRANULOMATOSIS" ; "BLAUS" ; "Jabs syndrome" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| Blau syndrome |
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| Is a |
autosomal dominant disease syndrome |
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External Crossreferences & Linkouts
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GARD:304 MESH:C538157 MIM:186580 NCI:C116794 |
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