Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Lujan-Fryns syndrome
Synonyms	LUJFRYS
Definitions	(LUJFRYS) - Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root.
ID	http://identifiers.org/omim/309520
altLabel	LUJFRYS
definition	(LUJFRYS) - Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root.
id	OMIM:309520
notation	OMIM:309520
prefLabel	Lujan-Fryns syndrome
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://identifiers.org/omim/309520	GEXO	SAME_URI
http://identifiers.org/omim/309520	RETO	SAME_URI
http://www.gamuts.net/entity#Lujan_Fryns_syndrome	GAMUTS	LOOM
http://purl.obolibrary.org/obo/OMIM_309520	CCO	LOOM
http://purl.bioontology.org/ontology/MESH/C537724	MESH	LOOM
http://purl.bioontology.org/ontology/RCTV2/PKyJ.00	RCTV2	LOOM
http://identifiers.org/omim/309520	GEXO	LOOM
http://identifiers.org/omim/309520	RETO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537724	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_776	ORDO	LOOM