FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Bardet-Biedl syndrome
Synonyms
Definitions

A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
ID

http://purl.obolibrary.org/obo/DOID_1935
definition

A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
imported from

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

Bardet-Biedl syndrome
prefixIRI

DOID:1935
prefLabel

Bardet-Biedl syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_1935 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1935 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1935 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1935 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1935 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_1935 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015229 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015229 KTAO LOOM
http://identifiers.org/omim/209900 REXO LOOM
http://identifiers.org/omim/209900 GEXO LOOM
http://identifiers.org/omim/209900 RETO LOOM
http://purl.bioontology.org/ontology/MESH/D020788 MESH LOOM
http://purl.obolibrary.org/obo/DOID_1935 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1935 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1935 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1935 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1935 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1935 NIFSTD LOOM
http://id.nlm.nih.gov/mesh/D020788 MDM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3244 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01205 SNMI LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038266 PMAPP-PMO LOOM
rgo:13273 GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1935 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0752166 OCHV LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_4 HAMIDEHSGH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048680 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14622 DERMLEX LOOM
http://www.orpha.net/ORDO/Orphanet_110 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020788 RH-MESH LOOM
http://purl.jp/bio/4/id/200906047359269016 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0020632 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/5619004 SNOMEDCT LOOM
http://nanbyodata.jp/ontology/NANDO_2200414 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118632 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.83 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.112 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C118632 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48542 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.617.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_209900 CCO LOOM