Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Amelogenesis imperfecta
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_11823
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Amelogenesis+imperfecta%5Bti%5D+OR+Amelogenesis+imperfecta%5Bmajr%5D)+NOT+(renal+disease)
id_MeSH

D000567
id_OMS

K00.5
id_Orpha

88661
id_SNOMEDCT

78494001
id_UMLS

C0002452
inheritance

X-linked recessive

X-linked dominant

Autosomal dominant

Autosomal recessive

Sporadic
patType

disease
prefixIRI

hrdo:pat_id_11823
prefLabel

Amelogenesis imperfecta
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0000705 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 MONDO LOOM
http://purl.org/obo/owl/HP#HP_0000705 BDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-51009 SNMI LOOM
http://purl.jp/bio/4/id/200906088758919995 IOBC LOOM
http://purl.obolibrary.org/obo/HP_0000705 HP LOOM
http://purl.obolibrary.org/obo/HP_0000705 UPHENO LOOM
http://id.nlm.nih.gov/mesh/D000567 MDM LOOM
http://purl.bioontology.org/ontology/RCTV2/J005000 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/J0050 RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002452 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C07.793.700.255.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#989 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.850.800.255.500 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039487 PMAPP-PMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2187 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081678 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0001986 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_2187 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2187 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2187 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2187 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2187 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2187 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2187 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2187 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D000567 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C07.650.800.255.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037342 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/78494001 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000567 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_88661 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 KTAO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0673 IFAR LOOM
rgo:08665 GAMUTS LOOM