Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Aspartylglucosaminuria
Synonyms

Aspartylglucosaminidase deficiency
ID

http://www.limics.org/hrdo/rdfns#pat_id_5
ageOfOnset

Childhood
altLabel

Aspartylglucosaminidase deficiency
id_MedDRA

10068220
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Aspartylglucosaminuria%5Bti%5D+OR+%28Lysosomal+Storage+Diseases%5Bmh%5D+AND+Aspartylglucosylaminase%5Bmajr%5D%29
id_MeSH

C538402

D054880
id_MIM

208400
id_OMS

E77.1
id_Orpha

93
id_SNOMEDCT

54954004
id_UMLS

C0268225

C2931840
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_5
prefLabel

Aspartylglucosaminuria
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MP_0011516 MP LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DOID LOOM
http://www.orpha.net/ORDO/Orphanet_93 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050461 NATPRO LOOM
http://nanbyodata.jp/ontology/NANDO_2200555 NANDO LOOM
http://identifiers.org/omim/208400 REXO LOOM
http://identifiers.org/omim/208400 GEXO LOOM
http://identifiers.org/omim/208400 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54954004 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCTV2/C31y700 RCTV2 LOOM
http://nanbyodata.jp/ontology/NANDO_1200133 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/208400 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D054880 MESH LOOM
http://id.nlm.nih.gov/mesh/D054880 MDM LOOM
rgo:13272 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-72500 SNMI LOOM
http://purl.jp/bio/4/id/200906071764804008 IOBC LOOM
http://purl.org/skeletome/bonedysplasia#Aspartylglucosaminuria BDO LOOM
http://purl.obolibrary.org/obo/OMIM_208400 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050461 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050461 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0026074 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014368 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054880 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068220 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/C31y7 RCD LOOM
http://purl.obolibrary.org/obo/HP_0012068 HP LOOM
http://purl.obolibrary.org/obo/HP_0012068 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 CHIRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15068 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 EFO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268225 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.100 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085274 PMAPP-PMO LOOM