Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Brachymesomelia renal syndrome
Synonyms	Brachymesomelia-renal syndrome
ID	http://purl.bioontology.org/ontology/MESH/C537096
altLabel	Brachymesomelia-renal syndrome Langer Nishino Yamaguchi syndrome
cui	C1862084
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000151
HM	D019465 D003317 D000015 D052177/Q000151 D001848
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D052177 http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D001848 http://purl.bioontology.org/ontology/MESH/D003317
MDA	20100825
MeSH Frequency	0
MMR	20131106
notation	C537096
prefLabel	Brachymesomelia renal syndrome
SC	3
Scope Statement	Severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities
TERMUI	T741443 T753638 T753637
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/113470	OMIM	CUI
http://purl.obolibrary.org/obo/MONDO_0007228	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007228	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537096	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/113470	OMIM	LOOM
http://www.gamuts.net/entity#brachymesomelia_renal_syndrome	GAMUTS	LOOM