loading...| Preferred Name | Blau syndrome | |
| Synonyms |
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| Definitions |
An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050678 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| definition |
An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. |
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| hasDbXref |
SNOMEDCT:699861000 OMIM:186580 NCI:C116794 |
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| hasExactSynonym |
Jabs syndrome ARTHROCUTANEOUVEAL GRANULOMATOSIS |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:0050678 |
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| imported from | ||
| label |
Blau syndrome |
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| prefixIRI |
DOID:0050678 |
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| prefLabel |
Blau syndrome |
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| subClassOf |
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