Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Smith-Magenis syndrome
Synonyms

17p11.2 microdeletion
ID

http://www.limics.org/hrdo/rdfns#pat_id_387
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
altLabel

17p11.2 microdeletion
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Smith-Magenis%5Btw%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BText+Word%5D%29
id_MeSH

D058496
id_MIM

182290
id_OMS

Q87.8
id_Orpha

819
id_SNOMEDCT

401315004
id_UMLS

C0795864
inheritance

Sporadic
patType

malformation syndrome
prefixIRI

hrdo:pat_id_387
prefLabel

Smith-Magenis syndrome
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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http://purl.obolibrary.org/obo/DOID_0060768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060768 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060768 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0027241 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_819 ORDO LOOM
http://purl.obolibrary.org/obo/GSSO_006996 GSSO LOOM
http://identifiers.org/omim/182290 REXO LOOM
http://identifiers.org/omim/182290 GEXO LOOM
http://identifiers.org/omim/182290 RETO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081680 MEDDRA LOOM
http://purl.bioontology.org/ontology/CSP/5002-0024 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.879 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058496 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PJ33300 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C75469 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D058496 MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200687 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/182290 OMIM LOOM
http://purl.jp/bio/4/id/201106036969312971 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/401315004 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_182290 CCO LOOM
http://nanbyodata.jp/ontology/NANDO_2200954 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.887 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75469 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040057 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 DOVES LOOM
rgo:26266 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.281.900 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.887 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0795864 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Smith_Magenis_Syndrome CSEO LOOM