FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Blau syndrome
Synonyms
Definitions

A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.

ID

http://purl.obolibrary.org/obo/DOID_0050678

definition

A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Blau syndrome

prefixIRI

DOID:0050678

prefLabel

Blau syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050678 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 NIFSTD SAME_URI
rgo:25821 GAMUTS LOOM
http://identifiers.org/omim/186580 REXO LOOM
http://identifiers.org/omim/186580 GEXO LOOM
http://identifiers.org/omim/186580 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0000683 DERMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12018 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 DOVES LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00062 OCIMIDO LOOM
http://purl.obolibrary.org/obo/NCIT_C116794 BERO LOOM
http://purl.obolibrary.org/obo/DOID_0050678 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050678 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050678 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050678 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050678 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050678 NIFSTD LOOM
http://purl.bioontology.org/ontology/OMIM/186580 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/C538157 MESH LOOM
urn:agi-pathway:uuid-c741164a-5c16-4f88-9873-2a11395376c1 BPT LOOM
http://purl.jp/bio/4/id/200906086521095782 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/818950005 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116794 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071755 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_90340 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200476 NANDO LOOM
http://purl.obolibrary.org/obo/OMIM_186580 CCO LOOM