Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Mandibuloacral dysplasia with type A lipodystrophy
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_11984
id_Medline	neant
id_MeSH	C535705
id_MIM	248370
id_OMS	Q87.5
id_Orpha	90153
inheritance	Autosomal recessive
patType	clinical subtype
prefixIRI	hrdo:pat_id_11984
prefLabel	Mandibuloacral dysplasia with type A lipodystrophy
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009557	MONDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C123417	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123417	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/248370	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535705	RH-MESH	LOOM
http://identifiers.org/omim/248370	REXO	LOOM
http://identifiers.org/omim/248370	GEXO	LOOM
http://identifiers.org/omim/248370	RETO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1003431005	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/OMIM_248370	CCO	LOOM
http://www.orpha.net/ORDO/Orphanet_90153	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/C535705	MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0009557	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009557	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009557	DOVES	LOOM