Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
Jump to:
loading...
Preferred Name

Bardet-Biedl syndrome
Synonyms

BBS
ID

http://www.limics.org/hrdo/rdfns#pat_id_3244
ageOfDeath

No data available
ageOfOnset

Neonatal/infancy
altLabel

BBS
id_MedDRA

10056715
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=bardet+biedl+syndrome%5Bmh%5D+OR+Bardet+Biedl+syndrome%5Btw%5D
id_MeSH

D020788
id_MIM

209900

210350
id_OMS

Q87.8
id_Orpha

110
id_SNOMEDCT

5619004
id_UMLS

C0752166
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_3244
prefLabel

Bardet-Biedl syndrome
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
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://purl.obolibrary.org/obo/DOID_1935 FNS-H LOOM
http://id.nlm.nih.gov/mesh/D020788 MDM 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