Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Fine-Lubinsky syndrome
Synonyms	Brachycephaly - deafness - cataract - intellectual deficit
ID	http://www.limics.org/hrdo/rdfns#pat_id_3187
ageOfOnset	Childhood
altLabel	Brachycephaly - deafness - cataract - intellectual deficit
id_Medline	neant
id_MeSH	C537933
id_MIM	601353
id_OMS	Q87.8
id_Orpha	1272
id_UMLS	C0795941
inheritance	Autosomal recessive
patType	malformation syndrome
prefixIRI	hrdo:pat_id_3187
prefLabel	Fine-Lubinsky syndrome
prevalence	<1 / 1 000 000
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.bioontology.org/ontology/MESH/C537933	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/720955004	SNOMEDCT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537933	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011049	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011049	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011049	DOVES	LOOM
http://www.gamuts.net/entity#Fine_Lubinsky_syndrome	GAMUTS	LOOM