loading...| Preferred Name | Blau Syndrome | |
| Synonyms |
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| Definitions |
An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C116794 |
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| ALT_DEFINITION |
An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis. |
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| code |
C116794 |
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| Contributing_Source |
Cellosaurus NICHD |
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| definition |
An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Blau Syndrome |
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| Preferred_Name |
Blau Syndrome |
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| prefixIRI |
NCIT:C116794 |
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| prefLabel |
Blau Syndrome |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1861303 |
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| subClassOf |