Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Multiple carboxylase deficiency
Synonyms

MCD
ID

http://www.limics.org/hrdo/rdfns#pat_id_462
ageOfDeath

No data available
ageOfOnset

Neonatal/infancy
altLabel

MCD
id_MedDRA

10028176
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple+carboxylase+deficiency%5Bmh%5D+OR+Multiple+carboxylase+defi*%5Bti%5D+OR+holocarboxylase+synthetase+defi*%5Bti%5D+OR+biotinidase+defi*%5Bti%5D
id_MeSH

D009100
id_OMS

E53.8
id_Orpha

148
id_UMLS

C0026755
inheritance

Autosomal recessive
patType

group of phenomes
prefixIRI

hrdo:pat_id_462
prefLabel

Multiple carboxylase deficiency
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_11243

http://www.limics.org/hrdo/rdfns#pat_id_11189

http://www.limics.org/hrdo/rdfns#pat_id_11413
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0015454 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_857 DOID LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_857 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D009100 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1172966001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/LNC/MTHU046392 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.720 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.720 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028176 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 EFO LOOM
rgo:27610 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.620 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200820 NANDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15086 DERMLEX LOOM
http://purl.obolibrary.org/obo/DOID_857 CLO LOOM
http://purl.obolibrary.org/obo/DOID_857 BAO LOOM
http://purl.obolibrary.org/obo/DOID_857 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_857 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_857 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_857 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0010140 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009100 RH-MESH LOOM
http://purl.jp/bio/4/id/200906088851058380 IOBC LOOM
http://id.nlm.nih.gov/mesh/D009100 MDM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036670 PMAPP-PMO LOOM
http://www.orpha.net/ORDO/Orphanet_148 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200500 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.620 RH-MESH LOOM