Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Lujan Fryns syndrome
Synonyms	X-Linked Mental Retardation with Marfanoid Habitus
ID	http://purl.bioontology.org/ontology/MESH/C537724
altLabel	X-Linked Mental Retardation with Marfanoid Habitus Lujan Syndrome Lujan-Fryns Syndrome Mental retardation, X-linked, with marfanoid habitus X-Linked Intellectual Deficit with Marfanoid Habitus XLMR with Marfanoid Features Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies
cui	C0796022
HM	D008382 D038901 D019465
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D038901 http://purl.bioontology.org/ontology/MESH/D008382
MDA	20100825
MeSH Frequency	7
MMR	20131024
notation	C537724
prefLabel	Lujan Fryns syndrome
SC	3
TERMUI	T841935 T802147 T841934 T743543 T743541 T743542 T841933 T845952
TH	ORD (2010) OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/300188	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/309520	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/309520	Online Mendelian Inheritance in Man	LOOM