Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Carbohydrate Metabolism, Inborn Errors
Synonyms	Carbohydrate Metabolism, Inborn Error
Definitions	Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.
ID	http://purl.bioontology.org/ontology/MESH/D002239
altLabel	Carbohydrate Metabolism, Inborn Error
AN	coordinate with specific carbohydrate /metab but note specifics
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	C0007001
DC	1
definition	Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.
DX	19650101
HN	65
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	65
Mapped from	http://purl.bioontology.org/ontology/MESH/C563207 http://purl.bioontology.org/ontology/MESH/C565852 http://purl.bioontology.org/ontology/MESH/C562603 http://purl.bioontology.org/ontology/MESH/C562600 http://purl.bioontology.org/ontology/MESH/C562602 http://purl.bioontology.org/ontology/MESH/C535767 http://purl.bioontology.org/ontology/MESH/C566618 http://purl.bioontology.org/ontology/MESH/C536830 http://purl.bioontology.org/ontology/MESH/C564159 http://purl.bioontology.org/ontology/MESH/C565558 http://purl.bioontology.org/ontology/MESH/C563542 http://purl.bioontology.org/ontology/MESH/C563212 http://purl.bioontology.org/ontology/MESH/C536652 http://purl.bioontology.org/ontology/MESH/C536654 http://purl.bioontology.org/ontology/MESH/C564730 http://purl.bioontology.org/ontology/MESH/C580233 http://purl.bioontology.org/ontology/MESH/C564890 http://purl.bioontology.org/ontology/MESH/C538139 http://purl.bioontology.org/ontology/MESH/C564877 http://purl.bioontology.org/ontology/MESH/C566029
MDA	19990101
MMR	20160707
MN	C16.320.565.202 C18.452.648.202
notation	D002239
prefLabel	Carbohydrate Metabolism, Inborn Errors
TERMUI	T006428 T006427
TH	NLM (1965) NLM (1991)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D008661

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D002239	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000658	NDFRT	CUI
http://purl.bioontology.org/ontology/CSP/0551-8201	CRISP	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036652	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002239	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0003577	OMIT	LOOM
http://purl.jp/bio/4/id/200906077637604570	IOBC	LOOM
http://id.nlm.nih.gov/mesh/D002239	MDM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202	RH-MESH	LOOM