Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Metabolism, Inborn Errors
Synonyms	Error, Inborn Metabolism Errors, Inborn Metabolism
Definitions	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
ID	http://purl.bioontology.org/ontology/MESH/D008661
altLabel	Error, Inborn Metabolism Inborn Errors of Metabolism Metabolism Error, Inborn Metabolisms, Inborn Errors Metabolism Inborn Error Inborn Metabolism Errors Inborn Errors Metabolism Inborn Errors Metabolisms Metabolism Errors, Inborn Inborn Metabolism Error Errors Metabolisms, Inborn Metabolism Inborn Errors Errors Metabolism, Inborn Errors, Inborn Metabolism
AN	general or unspecified; prefer specific types; differentiate from DEFICIENCY DISEASES
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	C0025521
DC	1
definition	Errors in metabolic processes 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/C537934 http://purl.bioontology.org/ontology/MESH/C535311 http://purl.bioontology.org/ontology/MESH/C535310 http://purl.bioontology.org/ontology/MESH/C580002 http://purl.bioontology.org/ontology/MESH/C536006 http://purl.bioontology.org/ontology/MESH/C563171 http://purl.bioontology.org/ontology/MESH/C565476 http://purl.bioontology.org/ontology/MESH/C563602 http://purl.bioontology.org/ontology/MESH/C563601 http://purl.bioontology.org/ontology/MESH/C000591739 http://purl.bioontology.org/ontology/MESH/C563704 http://purl.bioontology.org/ontology/MESH/C563703 http://purl.bioontology.org/ontology/MESH/C562801 http://purl.bioontology.org/ontology/MESH/C566125 http://purl.bioontology.org/ontology/MESH/C565099 http://purl.bioontology.org/ontology/MESH/C537573 http://purl.bioontology.org/ontology/MESH/C535321 http://purl.bioontology.org/ontology/MESH/C563835 http://purl.bioontology.org/ontology/MESH/C562815 http://purl.bioontology.org/ontology/MESH/C537895 http://purl.bioontology.org/ontology/MESH/C565127 http://purl.bioontology.org/ontology/MESH/C538191 http://purl.bioontology.org/ontology/MESH/C566711 http://purl.bioontology.org/ontology/MESH/C565439 http://purl.bioontology.org/ontology/MESH/C567258 http://purl.bioontology.org/ontology/MESH/C536688 http://purl.bioontology.org/ontology/MESH/C563249 http://purl.bioontology.org/ontology/MESH/C536107 http://purl.bioontology.org/ontology/MESH/C565486 http://purl.bioontology.org/ontology/MESH/C564127 http://purl.bioontology.org/ontology/MESH/C565461 http://purl.bioontology.org/ontology/MESH/C562649 http://purl.bioontology.org/ontology/MESH/C562645 http://purl.bioontology.org/ontology/MESH/C565394 http://purl.bioontology.org/ontology/MESH/C565393 http://purl.bioontology.org/ontology/MESH/C537425 http://purl.bioontology.org/ontology/MESH/C567624 http://purl.bioontology.org/ontology/MESH/C538228 http://purl.bioontology.org/ontology/MESH/C562584 http://purl.bioontology.org/ontology/MESH/C562581 http://purl.bioontology.org/ontology/MESH/C567067 http://purl.bioontology.org/ontology/MESH/C564221 http://purl.bioontology.org/ontology/MESH/C562864 http://purl.bioontology.org/ontology/MESH/C565044 http://purl.bioontology.org/ontology/MESH/C565043 http://purl.bioontology.org/ontology/MESH/C565959 http://purl.bioontology.org/ontology/MESH/C562654 http://purl.bioontology.org/ontology/MESH/C562651 http://purl.bioontology.org/ontology/MESH/C562657 http://purl.bioontology.org/ontology/MESH/C566803 http://purl.bioontology.org/ontology/MESH/C565529 http://purl.bioontology.org/ontology/MESH/C562798 http://purl.bioontology.org/ontology/MESH/C567276 http://purl.bioontology.org/ontology/MESH/C536561 http://purl.bioontology.org/ontology/MESH/C566250 http://purl.bioontology.org/ontology/MESH/C565112 http://purl.bioontology.org/ontology/MESH/C567126 http://purl.bioontology.org/ontology/MESH/C563797 http://purl.bioontology.org/ontology/MESH/C566566 http://purl.bioontology.org/ontology/MESH/C562576 http://purl.bioontology.org/ontology/MESH/C535468 http://purl.bioontology.org/ontology/MESH/C567784 http://purl.bioontology.org/ontology/MESH/C564215 http://purl.bioontology.org/ontology/MESH/C566110 http://purl.bioontology.org/ontology/MESH/C566111 http://purl.bioontology.org/ontology/MESH/C563653 http://purl.bioontology.org/ontology/MESH/C563039 http://purl.bioontology.org/ontology/MESH/C565706 http://purl.bioontology.org/ontology/MESH/C566300 http://purl.bioontology.org/ontology/MESH/C535702 http://purl.bioontology.org/ontology/MESH/C536705 http://purl.bioontology.org/ontology/MESH/C565742 http://purl.bioontology.org/ontology/MESH/C565446 http://purl.bioontology.org/ontology/MESH/C566751 http://purl.bioontology.org/ontology/MESH/C566750 http://purl.bioontology.org/ontology/MESH/C537436 http://purl.bioontology.org/ontology/MESH/C535589 http://purl.bioontology.org/ontology/MESH/C535995 http://purl.bioontology.org/ontology/MESH/C579867 http://purl.bioontology.org/ontology/MESH/C565538 http://purl.bioontology.org/ontology/MESH/C563641 http://purl.bioontology.org/ontology/MESH/C563952 http://purl.bioontology.org/ontology/MESH/C564907 http://purl.bioontology.org/ontology/MESH/C567080 http://purl.bioontology.org/ontology/MESH/C565690 http://purl.bioontology.org/ontology/MESH/C565375 http://purl.bioontology.org/ontology/MESH/C537417 http://purl.bioontology.org/ontology/MESH/C536210
MDA	19990101
MMR	20190524
MN	C16.320.565 C18.452.648
notation	D008661
prefLabel	Metabolism, Inborn Errors
TERMUI	T025761 T025763 T025762
TH	NLM (1965) UNK (19XX)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D030342 http://purl.bioontology.org/ontology/MESH/D008659

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRFRE/10021605	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-00100	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/86095007	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021601	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002005	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D008661	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10021605	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10062018	MDRFRE	CUI
http://purl.bioontology.org/ontology/CSP/1849-0057	CRISP	CUI
http://purl.bioontology.org/ontology/RCD/X40RY	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10062018	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10021605	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10021601	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10021601	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10062018	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86095007	SNOMEDCT	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008661	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0009724	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D008661	MDM	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036639	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648	RH-MESH	LOOM