Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Silver-Russell syndrome
Synonyms

Silver-Russell dwarfism
ID

http://www.limics.org/hrdo/rdfns#pat_id_584
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
altLabel

Silver-Russell dwarfism
id_MedDRA

10062282
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Silver-Russell%5Btw%5D+OR+silver+russel%5Btw%5D+OR+russel*silver%5Btw%5D%29+%28dwarfism+OR+short+stature%5Btw%5D%29
id_MeSH

D056730
id_MIM

180860

312780
id_OMS

Q87.1
id_Orpha

813
id_SNOMEDCT

15069006
id_UMLS

C0175693
inheritance

Autosomal dominant

Sporadic
patType

disease
prefixIRI

hrdo:pat_id_584
prefLabel

Silver-Russell syndrome
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.855 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062282 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_180860 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.870 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.870 RH-MESH LOOM
http://identifiers.org/omim/180860 REXO LOOM
http://identifiers.org/omim/180860 GEXO LOOM
http://identifiers.org/omim/180860 RETO LOOM
http://purl.obolibrary.org/obo/DOID_14681 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14681 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14681 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14681 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14681 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14681 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14681 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14681 NATPRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15309 DERMLEX LOOM
http://www.orpha.net/ORDO/Orphanet_813 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Silver-Russell_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/OMIT_0026699 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039951 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.937 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056730 RH-MESH LOOM
http://purl.jp/bio/4/id/200906040762515928 IOBC LOOM
http://www.gamuts.net/entity#Silver_Russell_syndrome GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.925 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008394 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008394 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008394 DOVES LOOM
http://purl.bioontology.org/ontology/MESH/D056730 MESH LOOM
http://id.nlm.nih.gov/mesh/D056730 MDM LOOM