Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Fanconi anemia
Synonyms

Fanconi pancytopenia
ID

http://www.limics.org/hrdo/rdfns#pat_id_634
ageOfOnset

Childhood
altLabel

Fanconi pancytopenia
id_MedDRA

10055206
id_Medline

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

D005199
id_MIM

227645

227646

227650

300514

600901

603467

609053

609054

610832

613390

613951

614082

614083

614087
id_OMS

D61.0
id_Orpha

84
id_SNOMEDCT

30575002
id_UMLS

C0015625
inheritance

X-linked recessive

Autosomal recessive
patType

malformation syndrome
prefixIRI

hrdo:pat_id_634
prefLabel

Fanconi anemia
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13636 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_13636 DOID LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0015625 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005199 RH-MESH LOOM
http://purl.jp/bio/4/id/200906050385709807 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_13636 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13636 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13636 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13636 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13636 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13636 FNS-H LOOM
http://www.gamuts.net/entity#Fanconi_anemia GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIT_0006423 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.071.085.080.280 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15297 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 KTAO LOOM
http://purl.bioontology.org/ontology/MESH/D005199 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036568 PMAPP-PMO LOOM
http://purl.org/skeletome/bonedysplasia#Fanconi_anemia BDO LOOM
http://www.orpha.net/ORDO/Orphanet_84 ORDO LOOM
http://purl.obolibrary.org/obo/OMIM_227650 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.190.196.080.280 RH-MESH LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000285961 PDQ LOOM
http://id.nlm.nih.gov/mesh/D005199 MDM LOOM
http://purl.obolibrary.org/obo/NCIT_C62505 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62505 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.077.280 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.280 RH-MESH LOOM
http://identifiers.org/omim/227650 REXO LOOM
http://identifiers.org/omim/227650 GEXO LOOM
http://identifiers.org/omim/227650 RETO LOOM
http://doe-generated-ontology.com/OntoAD#C0015625 ONTOAD LOOM