Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Laurence-Moon syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_531
ageOfOnset

Neonatal/infancy
id_MedDRA

10056710
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28laurence+moon+syndrome%5Bmajr%5D+OR+Laurence+Moon%5Bti%5D%29+NOT+%28renal+OR+kidney+OR+kidney+diseases%5Bmh%5D+OR+Bardet+Biedl*%5Btw%5D%29
id_MeSH

D007849
id_MIM

245800
id_OMS

Q87.8
id_Orpha

2377
id_SNOMEDCT

232059000
id_UMLS

C0023138
inheritance

Autosomal recessive
patType

malformation syndrome
prefixIRI

hrdo:pat_id_531
prefLabel

Laurence-Moon syndrome
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Delete Mapping To Ontology Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.509 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.617.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007849 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D007849 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2377 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_1930 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1930 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1930 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1930 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1930 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1930 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038267 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0023138 OCHV LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_4_22 HAMIDEHSGH LOOM
http://purl.obolibrary.org/obo/NCIT_C34760 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0008946 OMIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7250 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34760 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009514 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1930 NATPRO LOOM
http://purl.bioontology.org/ontology/RCD/X00e1 RCD LOOM
rgo:19288 GAMUTS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.84 ICD10CM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/232059000 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056710 MEDDRA LOOM
http://id.nlm.nih.gov/mesh/D007849 MDM LOOM
http://purl.jp/bio/4/id/200906051501978183 IOBC LOOM
http://purl.bioontology.org/ontology/OMIM/245800 OMIM LOOM