Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Treacher-Collins syndrome
Synonyms

Mandibulofacial dysostosis without limb anomalies

Franceschetti-Klein syndrome
ID

http://www.limics.org/hrdo/rdfns#pat_id_293
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
altLabel

Mandibulofacial dysostosis without limb anomalies

Franceschetti-Klein syndrome
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mandibulofacial+dysostosis%5Bmh%3Anoexp%5D+OR+Mandibulofacial+Dysostos*%5Btw%5D+OR+treacher-coll*%5Btw%5D+OR+franceschetti-kl*%5Btw%5D
id_MIM

154500

248390

613717
id_OMS

Q75.4
id_Orpha

861
id_SNOMEDCT

82203000
inheritance

Autosomal dominant
patType

malformation syndrome
prefixIRI

hrdo:pat_id_293
prefLabel

Treacher-Collins syndrome
prevalence

1-9 / 100 000
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_2908 DDSS LOOM
http://www.orpha.net/ORDO/Orphanet_861 ORDO LOOM
rgo:07963 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0002457 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2908 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0002457 MONDO LOOM
http://www.co-ode.org/ontologies/galen#TreacherCollinsSyndrome GALEN LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Treacher_Collins_Syndrome PEDTERM LOOM
http://purl.obolibrary.org/obo/MONDO_0002457 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0242387 OCHV LOOM
http://purl.obolibrary.org/obo/HIO_0000021 HIO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0242387 MEDLINEPLUS LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17933 DERMLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Treacher_Collins_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/DOID_2908 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2908 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2908 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2908 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2908 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/82203000 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00722 SNMI LOOM
http://purl.obolibrary.org/obo/NCIT_C75018 BERO LOOM
http://purl.bioontology.org/ontology/HL7/C0242387 HL7 LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy5C00 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10044554 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75018 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/XE2ud RCD LOOM
http://purl.bioontology.org/ontology/LNC/LA29641-0 LOINC LOOM
http://www.orpha.net/ORDO/Orphanet_861 ORDO LOOM
http://purl.jp/bio/4/id/200906091302138054 IOBC LOOM