Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Cutis laxa
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_3569
id_MedDRA

10011692
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cutis+laxa%5Bti%5D+OR+cutis+laxa%5Bmajr%5D
id_MeSH

D003483
id_OMS

Q82.8
id_Orpha

209
id_SNOMEDCT

58588007
id_UMLS

C0010495
inheritance

X-linked recessive

Autosomal dominant

Autosomal recessive

Sporadic
patType

group of phenomes
prefixIRI

hrdo:pat_id_3569
prefLabel

Cutis laxa
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_15021

http://www.limics.org/hrdo/rdfns#pat_id_19082

http://www.limics.org/hrdo/rdfns#pat_id_16853

http://www.limics.org/hrdo/rdfns#pat_id_16852

http://www.limics.org/hrdo/rdfns#pat_id_13585

http://www.limics.org/hrdo/rdfns#pat_id_18158
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3144 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016175 MONDO LOOM
http://id.nlm.nih.gov/mesh/D003483 MDM LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU006920 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10011692 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0004773 OMIT LOOM
http://purl.bioontology.org/ontology/RCD/X50CO RCD LOOM
http://www.orpha.net/ORDO/Orphanet_209 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036739 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/CSP/2716-6258 CRISP LOOM
http://purl.obolibrary.org/obo/DOID_3144 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3144 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3144 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3144 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3144 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3144 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3144 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3144 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.180 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0016175 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016175 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016175 DOVES LOOM
rgo:13280 GAMUTS LOOM
http://purl.obolibrary.org/obo/DERMO_0001787 DERMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/58588007 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.230 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.180 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0000973 HP LOOM
http://purl.obolibrary.org/obo/HP_0000973 UPHENO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cutis_Laxa CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003483 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84663 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C84663 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D003483 MESH LOOM
http://purl.jp/bio/4/id/200906041052091726 IOBC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3144 NATPRO LOOM
http://purl.org/obo/owl/HP#HP_0000973 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3512 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID13988 DERMLEX LOOM