Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Rothmund-Thomson syndrome
Synonyms

Poikiloderma of Rothmund-Thomson

RTS
ID

http://www.limics.org/hrdo/rdfns#pat_id_2785
ageOfOnset

Neonatal/infancy
altLabel

Poikiloderma of Rothmund-Thomson

RTS
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rothmund+Thomson+syndrome+OR+Poikiloderma+congenitale
id_MeSH

D011038
id_MIM

268400
id_OMS

Q82.8
id_Orpha

2909
id_SNOMEDCT

69093006
id_UMLS

C0032339
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_2785
prefLabel

Rothmund-Thomson syndrome
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2732 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.765 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_268400 CCO LOOM
http://purl.bioontology.org/ontology/RCD/PH320 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.760 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.775 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200671 NANDO LOOM
http://purl.obolibrary.org/obo/OMIT_0012011 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011038 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038520 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C3335 BERO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000654676 PDQ LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/69093006 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9884 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0000620 DERMO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00403 SNMI LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14438 DERMLEX LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2732 NATPRO LOOM
http://identifiers.org/omim/268400 REXO LOOM
http://identifiers.org/omim/268400 GEXO LOOM
http://identifiers.org/omim/268400 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.760 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33300 RCTV2 LOOM
http://id.nlm.nih.gov/mesh/D011038 MDM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032339 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052510 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D011038 MESH LOOM
rgo:08745 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3335 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010002 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.775 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2732 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2732 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2732 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2732 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2732 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2732 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2732 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2732 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.775 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2909 ORDO LOOM