Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
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Preferred Name

Blau syndrome
Synonyms

BS
Definitions

(BS) - Rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.
ID

http://identifiers.org/omim/186580
altLabel

BS
definition

(BS) - Rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.
id

OMIM:186580
notation

OMIM:186580
prefLabel

Blau syndrome
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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http://identifiers.org/omim/186580 GEXO SAME_URI
http://identifiers.org/omim/186580 RETO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008523 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008523 EFO 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 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 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
http://www.gamuts.net/entity#Blau_syndrome GAMUTS LOOM