Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Congenital Disorders of Glycosylation
Synonyms	Syndrome, Carbohydrate-Deficient Glycoprotein
Definitions	A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
ID	http://purl.bioontology.org/ontology/MESH/D018981
altLabel	Syndrome, Carbohydrate-Deficient Glycoprotein Carbohydrate Deficient Glycoprotein Syndrome Carbohydrate-Deficient Glycoprotein Syndromes Carbohydrate-Deficient Glycoprotein Syndrome Glycoprotein Syndrome, Carbohydrate-Deficient Syndromes, Carbohydrate-Deficient Glycoprotein
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0282577
DC	1
definition	A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
DX	19960101
HN	2011(1996)
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2011; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (1996-2010)
Mapped from	http://purl.bioontology.org/ontology/MESH/C567857 http://purl.bioontology.org/ontology/MESH/C535739 http://purl.bioontology.org/ontology/MESH/C567040 http://purl.bioontology.org/ontology/MESH/C565264 http://purl.bioontology.org/ontology/MESH/C000623088 http://purl.bioontology.org/ontology/MESH/C535753 http://purl.bioontology.org/ontology/MESH/C535751 http://purl.bioontology.org/ontology/MESH/C535754 http://purl.bioontology.org/ontology/MESH/C535756 http://purl.bioontology.org/ontology/MESH/C535755 http://purl.bioontology.org/ontology/MESH/C535752 http://purl.bioontology.org/ontology/MESH/C535750 http://purl.bioontology.org/ontology/MESH/C564625 http://purl.bioontology.org/ontology/MESH/C567437 http://purl.bioontology.org/ontology/MESH/C566987 http://purl.bioontology.org/ontology/MESH/C000626124 http://purl.bioontology.org/ontology/MESH/C563666 http://purl.bioontology.org/ontology/MESH/C567328 http://purl.bioontology.org/ontology/MESH/C562844 http://purl.bioontology.org/ontology/MESH/C535746 http://purl.bioontology.org/ontology/MESH/C535743 http://purl.bioontology.org/ontology/MESH/C535749 http://purl.bioontology.org/ontology/MESH/C535741 http://purl.bioontology.org/ontology/MESH/C535747 http://purl.bioontology.org/ontology/MESH/C535740 http://purl.bioontology.org/ontology/MESH/C535748 http://purl.bioontology.org/ontology/MESH/C535745 http://purl.bioontology.org/ontology/MESH/C535742 http://purl.bioontology.org/ontology/MESH/C535744
MDA	19950524
MMR	20100625
MN	C16.320.565.202.125 C18.452.648.202.125
notation	D018981
prefLabel	Congenital Disorders of Glycosylation
TERMUI	T056594 T762079 T056593
TH	NLM (1996) NLM (2011) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D002239

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/NDFRT/N0000003885	NDFRT	CUI
http://purl.bioontology.org/ontology/SCTSPA/238049009	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X40WK	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D018981	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10075892	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10075892	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10075892	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238049009	SNOMEDCT	CUI
http://id.nlm.nih.gov/mesh/D018981	MDM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.125	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036653	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018981	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0019101	OMIT	LOOM
http://purl.jp/bio/4/id/200906030974160326	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.125	RH-MESH	LOOM