BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Blau syndrome
Synonyms

BLAUS

Jabs syndrome

ARTHROCUTANEOUVEAL GRANULOMATOSIS

Definitions

A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:186580

NCI:C116794

GARD:304

has exact synonym

BLAUS

Jabs syndrome

ARTHROCUTANEOUVEAL GRANULOMATOSIS

has_obo_namespace

disease_ontology

id

DOID:0050678

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

Blau syndrome

notation

DOID:0050678

prefLabel

Blau syndrome

textual definition

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

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 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050678 FNS-H 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 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050678 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050678 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050678 FNS-H 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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