Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

LEOPARD syndrome
Synonyms

Familial multiple lentigines syndrome

Cardiomyopathic lentiginosis
ID

http://www.limics.org/hrdo/rdfns#pat_id_1032
ageOfOnset

Childhood
altLabel

Familial multiple lentigines syndrome

Cardiomyopathic lentiginosis
id_MedDRA

10062901
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22leopard+syndrome%22%5BMH%5D+OR+Leopard+syndrome%5BTi%5D
id_MeSH

C537116

D044542
id_MIM

151100

611554

613707
id_OMS

Q87.8
id_Orpha

500
id_SNOMEDCT

111306001

403537000
id_UMLS

C0175704

C2931424
inheritance

Autosomal dominant
patType

malformation syndrome
prefixIRI

hrdo:pat_id_1032
prefLabel

LEOPARD syndrome
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Delete Mapping To Ontology Source
http://www.phoc.org.cn/pmo/class/PMO_00039948 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.685 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.525 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.525 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D044542 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175704 OCHV LOOM
http://purl.jp/bio/4/id/200906037830471992 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_14291 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14291 DTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.525 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.695 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C84820 BERO LOOM
http://purl.obolibrary.org/obo/DERMO_0000678 DERMO LOOM
http://www.gamuts.net/entity#LEOPARD_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIT_0023454 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#LEOPARD_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/M292200 RCTV2 LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#18181 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.695 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.430.530.550.525 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.484.716.525 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14291 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D044542 MESH LOOM