Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Osteopetrosis with renal tubular acidosis
Synonyms	Guibaud-Vainsel Syndrome
ID	http://purl.bioontology.org/ontology/MESH/C536058
altLabel	Guibaud-Vainsel Syndrome Osteopetrosis, Autosomal Recessive 3 Carbonic Anhydrase II Deficiency Marble brain disease Guibaud Vainsel syndrome Carbonic anhydrase 2 deficiency
cui	C0345407
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D000141 D010022 D002256/Q000172 D056806
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D000141 http://purl.bioontology.org/ontology/MESH/D002256 http://purl.bioontology.org/ontology/MESH/D056806 http://purl.bioontology.org/ontology/MESH/D010022
MDA	20100825
MeSH Frequency	5
MMR	20131106
notation	C536058
prefLabel	Osteopetrosis with renal tubular acidosis
SC	3
TERMUI	T738107 T738105 T738106 T801622 T738104 T826116 T801619
TH	ORD (2010) OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118438	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/OMIM/611492	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/259730	Online Mendelian Inheritance in Man	CUI