Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Galactosemia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_355
ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter
id_MedDRA

10017604
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=galactosemia%5BText+Word%5D+OR+galactosaemia%5BText+Word%5D+OR+galactosemias%5Btw%5D+OR+%22galactosemias%22%5BMeSH+Terms%5D
id_MeSH

D005693
id_OMS

E74.2
id_Orpha

352
id_SNOMEDCT

190745006
id_UMLS

C0016952
inheritance

Autosómico recesivo

Autosomal recessive

Autossómica recessiva

Autosomica recessiva

Autosomal recessive

Autosomique récessif

Autosomal-rezessiv
patType

disease
prefixIRI

hrdo:pat_id_355
prefLabel

Galaktosämie

Galattosemia

Galactosemia

Galactosémie

Galactosemia

Galactosemia
prevalence

Inconnu

Unknown

Unknown

Desconocido

Unbekannt

Desconhecido

Sconosciuto
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://purl.obolibrary.org/obo/MONDO_0018116 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018116 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9870 DOID LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190745006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_9870 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9870 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9870 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9870 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9870 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9870 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10CM/E74.21 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/E74.21 ICD10CM LOOM
http://www.orpha.net/ORDO/Orphanet_352 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84723 BERO LOOM
http://purl.bioontology.org/ontology/NLMVS/2.16.840.1.113883.3.117.1.7.1.35 NLMVS LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012915 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0016952 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10017610 MEDDRA LOOM
http://pat.nichd.nih.gov/maternalconditions/C0016952 PATMHC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84723 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_230400 CCO LOOM
http://www.gamuts.net/entity#galactosemia GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0018116 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018116 KTAO LOOM
http://purl.jp/bio/4/id/200906026969270736 IOBC LOOM
http://identifiers.org/omim/230400 REXO LOOM
http://identifiers.org/omim/230400 GEXO LOOM
http://identifiers.org/omim/230400 RETO LOOM
http://purl.bioontology.org/ontology/ICD9CM/271.1 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/271.1 NLMVS LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Galactosemia PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Galactosemia CSEO LOOM
http://purl.jp/bio/4/id/200906032813311416 IOBC LOOM
http://purl.bioontology.org/ontology/CSP/1849-3608 CRISP LOOM
http://localhost/plosthes.2017-1#10029 PLOSTHES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9870 NATPRO LOOM