Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Craniosynostosis
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_792
ageOfDeath

No data available
ageOfOnset

Neonatal/infancy
id_MedDRA

10048907

10049889
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22craniosynostoses%22%5BTIAB%5D+OR+craniostenosis%5BText+Word%5D%29+NOT+Medline%5BSB%5D%29+OR+%22craniosynostoses%22%5BMeSH+Terms%5D
id_MeSH

D003398
id_OMS

Q75.0
id_Orpha

1531
id_SNOMEDCT

57219006
id_UMLS

C0010278
inheritance

X-linked recessive

Unknown

Autosomal dominant

Autosomal recessive

Sporadic
patType

group of phenomes
prefixIRI

hrdo:pat_id_792
prefLabel

Craniosynostosis
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_13056

http://www.limics.org/hrdo/rdfns#pat_id_18267

http://www.limics.org/hrdo/rdfns#pat_id_12363
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0015469 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 KTAO LOOM
rgo:06368 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Craniosynostosis CSEO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002205 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.0 ICD10 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10049889 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0084 IFAR LOOM
http://www.radlex.org/RID/RID34603 RADLEX LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010278 MEDLINEPLUS LOOM
http://nanbyodata.jp/ontology/NANDO_2100227 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84655 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84655 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/RCD/XE1Lz RCD LOOM
http://purl.obolibrary.org/obo/HP_0001363 HP LOOM
http://purl.obolibrary.org/obo/HP_0001363 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00002373 PMAPP-PMO LOOM
http://radlex.org/RID/RID34603 RADLEX LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2340 NATPRO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Craniosynostosis RPO LOOM
http://purl.bioontology.org/ontology/ICPC2P/N85006 ICPC2P LOOM
http://purl.org/obo/owl/HP#HP_0001363 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010278 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2340 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2340 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2340 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2340 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2340 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2340 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2340 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2340 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2340 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP LOOM
http://www.orpha.net/ORDO/Orphanet_1531 ORDO LOOM