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Preferred Name

Blau syndrome
ID

http://www.orpha.net/ORDO/Orphanet_90340
definition

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
has_age_of_onset

Neonatal

Infancy
has_inheritance

Not applicable

Autosomal dominant
hasDbXref

UMLS:C1861303

ICD-11:4A60.Y

MedDRA:10071755

OMIM:186580

ICD-10:D89.8
label

Blau syndrome
notation

ORPHA:90340
part_of

http://www.orpha.net/ORDO/Orphanet_98641

http://www.orpha.net/ORDO/Orphanet_622720

http://www.orpha.net/ORDO/Orphanet_290839

http://www.orpha.net/ORDO/Orphanet_264714

http://www.orpha.net/ORDO/Orphanet_324930

http://www.orpha.net/ORDO/Orphanet_280933

http://www.orpha.net/ORDO/Orphanet_477808

http://www.orpha.net/ORDO/Orphanet_619238

http://www.orpha.net/ORDO/Orphanet_324950

http://www.orpha.net/ORDO/Orphanet_290842

http://www.orpha.net/ORDO/Orphanet_79381

http://www.orpha.net/ORDO/Orphanet_522548

http://www.orpha.net/ORDO/Orphanet_280926
prefixIRI

ORDO:Orphanet_90340
prefLabel

Blau syndrome
present_in

Europe AND has_point_prevalence_range : <1 / 1 000 000

Denmark AND has_birth_prevalence_average_value : 0.06 AND has_birth_prevalence_range : <1 / 1 000 000
treeView

http://www.orpha.net/ORDO/Orphanet_98641

http://www.orpha.net/ORDO/Orphanet_622720

http://www.orpha.net/ORDO/Orphanet_290839

http://www.orpha.net/ORDO/Orphanet_264714

http://www.orpha.net/ORDO/Orphanet_324930

http://www.orpha.net/ORDO/Orphanet_280933

http://www.orpha.net/ORDO/Orphanet_477808

http://www.orpha.net/ORDO/Orphanet_619238

http://www.orpha.net/ORDO/Orphanet_324950

http://www.orpha.net/ORDO/Orphanet_290842

http://www.orpha.net/ORDO/Orphanet_79381

http://www.orpha.net/ORDO/Orphanet_522548

http://www.orpha.net/ORDO/Orphanet_280926
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116794 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_90340 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/OMIM/186580 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_0050678 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C538157 Medical Subject Headings / 医学主题词表 LOOM