Preferred Name | Blau syndrome | |
Synonyms |
BLAUS Jabs syndrome ARTHROCUTANEOUVEAL GRANULOMATOSIS |
|
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 |
OMIM:186580 NCI:C116794 GARD:304 |
|
has exact synonym |
BLAUS Jabs syndrome ARTHROCUTANEOUVEAL GRANULOMATOSIS |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050678 |
|
imported from | ||
in_subset | ||
label |
Blau syndrome |
|
notation |
DOID:0050678 |
|
prefLabel |
Blau syndrome |
|
textual definition |
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. |
|
subClassOf |
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