Terminology Service for NFDI4Health
Blau syndrome
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http://purl.obolibrary.org/obo/DOID_0050678
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Blau syndrome
Synonyms
- ARTHROCUTANEOUVEAL GRANULOMATOSIS
- BLAUS
- Jabs syndrome
Subsets
NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:0050678