Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Weill-Marchesani syndrome
Synonyms

Spherophakia - brachymorphia
ID

http://www.limics.org/hrdo/rdfns#pat_id_3033
ageOfOnset

Neonatal/infancy
altLabel

Spherophakia - brachymorphia
id_MedDRA

10064963
id_Medline

neant
id_MeSH

D056846
id_MIM

277600

608328

613195

614819
id_OMS

Q87.0
id_Orpha

3449
id_SNOMEDCT

205801004

2884008
id_UMLS

C0265313
inheritance

Autosomal dominant

Autosomal recessive
patType

malformation syndrome
prefixIRI

hrdo:pat_id_3033
prefLabel

Weill-Marchesani syndrome
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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http://www.owl-ontologies.com/NPOntology.owl#DOID_0050475 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_0050475 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050475 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050475 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050475 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050475 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050475 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064963 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85226 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0026748 OMIT LOOM
rgo:27316 GAMUTS LOOM
http://purl.jp/bio/4/id/200906081909173953 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.941 RH-MESH LOOM
http://localhost/plosthes.2017-1#10734 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.921 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.957 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.842 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056846 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036593 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C85226 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.899 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.887 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_3449 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/2884008 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D056846 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Weill-Marchesani_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00D13 SNMI LOOM