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loading...| Preferred Name |
Blau syndrome |
| Synonyms |
Jabs syndrome |
| Definitions |
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050678 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:304 OMIM:186580 MESH:C538157 NCI:C116794 |
| definition |
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. |
| has exact synonym |
Jabs syndrome ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050678 |
| in_subset | |
| label |
Blau syndrome |
| notation |
DOID:0050678 |
| prefLabel |
Blau syndrome |
| subClassOf |
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