Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Lujan Fryns syndrome
Synonyms	XLMR with Marfanoid Features
ID	http://purl.bioontology.org/ontology/MESH/C537724
altLabel	XLMR with Marfanoid Features Lujan-Fryns Syndrome Mental retardation, X-linked, with marfanoid habitus Lujan Syndrome Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies X-Linked Intellectual Deficit with Marfanoid Habitus X-Linked Mental Retardation with Marfanoid Habitus
cui	C0796022
HM	D019465 D038901 D008382
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D008382 http://purl.bioontology.org/ontology/MESH/D038901
MDA	20100825
MeSH Frequency	11
MMR	20131024
notation	C537724
prefLabel	Lujan Fryns syndrome
SC	3
TERMUI	T743543 T841934 T743541 T845952 T841935 T802147 T743542 T841933
TH	OMIM (2013) GHR (2014) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/422437002	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/309520	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/422437002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/300188	OMIM	CUI
http://www.gamuts.net/entity#Lujan_Fryns_syndrome	GAMUTS	LOOM
http://purl.obolibrary.org/obo/OMIM_309520	CCO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PKyJ.00	RCTV2	LOOM
http://identifiers.org/omim/309520	REXO	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