Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Desbuquois syndrome
Synonyms	Desbuquois Dysplasia
ID	http://purl.bioontology.org/ontology/MESH/C535943
altLabel	Desbuquois Dysplasia Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
cui	C0432242
HM	D019465 D017689 D007593 D004392 D009999
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D017689 http://purl.bioontology.org/ontology/MESH/D004392 http://purl.bioontology.org/ontology/MESH/D009999 http://purl.bioontology.org/ontology/MESH/D007593
MDA	20100825
MeSH Frequency	22
MMR	20120824
notation	C535943
prefLabel	Desbuquois syndrome
SC	3
Scope Statement	Micromelic Dwarfism with Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
TERMUI	T801921 T801922 T737744
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/254099008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X78Az	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/251450	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/254099008	SCTSPA	CUI
http://www.orpha.net/ORDO/Orphanet_1425	EFO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1631	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_1425	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254099008	SNOMEDCT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535943	RH-MESH	LOOM
http://purl.bioontology.org/ontology/RCD/X78Az	RCD	LOOM