Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Rabson-Mendenhall syndrome
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_2707
ageOfOnset	Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rabson+Mendenhall+syndrome+OR+%28pineal+hyperplasia+AND+insulin-resistant+diabetes%29
id_MeSH	D056731
id_MIM	262190
id_OMS	E13
id_Orpha	769
id_SNOMEDCT	33559001
id_UMLS	C0271695
inheritance	Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv
patType	malformation syndrome
prefixIRI	hrdo:pat_id_2707
prefLabel	Rabson-Mendenhall-Syndrom Syndrome de Rabson-Mendenhall Sindrome di Rabson-Mendenhall Síndrome de Rabson-Mendenhall Rabson-Mendenhall syndrome Síndrome de Rabson-Mendenhall
prevalence	Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009874	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009874	MONDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C131000	BERO	LOOM
http://purl.obolibrary.org/obo/OGMD_0000060	OGMD	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10088742	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0009874	DOVES	LOOM
http://purl.bioontology.org/ontology/RCTV2/C1zy600	RCTV2	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/33559001	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/OMIM_262190	CCO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131000	NCIT	LOOM
http://identifiers.org/omim/262190	REXO	LOOM
http://identifiers.org/omim/262190	GEXO	LOOM
http://identifiers.org/omim/262190	RETO	LOOM
http://id.nlm.nih.gov/mesh/D056731	MDM	LOOM
http://www.orpha.net/ORDO/Orphanet_769	ORDO	LOOM