Medical Subject Headings

Last uploaded: November 5, 2019

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Preferred Name	Brain Diseases, Metabolic, Inborn
Synonyms	Brain Diseases, Metabolic, Familial
Definitions	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
ID	http://purl.bioontology.org/ontology/MESH/D020739
altLabel	Brain Diseases, Metabolic, Familial Familial Metabolic Brain Diseases Encephalopathies, Metabolic, Inborn Metabolic Disorders, CNS, Inborn Inborn Metabolic Brain Disorders Metabolic Brain Diseases, Inherited Inborn Metabolic Disorders, Brain Metabolic Brain Diseases, Familial Metabolic Disorders, Familial, Brain Inherited Metabolic Disorders, Brain Familial Metabolic Disorders, Brain Metabolic Diseases, Inborn, Brain Brain Diseases, Metabolic, Inherited Inherited Metabolic Brain Diseases Inborn Errors of Metabolism, Brain Central Nervous System Inborn Metabolic Disorders Metabolic Diseases, Inborn, Central Nervous System Metabolic Disorders, Brain, Inherited Brain Syndrome, Metabolic, Inborn Metabolic Brain Diseases, Inborn CNS Metabolic Disorders, Inborn Metabolic Brain Syndrome, Inborn Inborn Metabolic Brain Diseases Central Nervous System Inborn Metabolic Diseases
AN	general or unspecified, prefer 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	C0752107 C0752110 C0752109
DC	1
definition	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
DX	20000101
FX	D008607
HN	2000
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D008607
Inverse of SIB	http://purl.bioontology.org/ontology/MESH/D012202 http://purl.bioontology.org/ontology/MESH/D011371 http://purl.bioontology.org/ontology/MESH/D016464 http://purl.bioontology.org/ontology/MESH/D002239 http://purl.bioontology.org/ontology/MESH/D007647 http://purl.bioontology.org/ontology/MESH/D015499 http://purl.bioontology.org/ontology/MESH/D020157 http://purl.bioontology.org/ontology/MESH/D006933 http://purl.bioontology.org/ontology/MESH/D014899 http://purl.bioontology.org/ontology/MESH/D011686 http://purl.bioontology.org/ontology/MESH/D008664 http://purl.bioontology.org/ontology/MESH/D028226 http://purl.bioontology.org/ontology/MESH/D043202 http://purl.bioontology.org/ontology/MESH/D030401 http://purl.bioontology.org/ontology/MESH/D000592 http://purl.bioontology.org/ontology/MESH/D008052 http://purl.bioontology.org/ontology/MESH/D017590 http://purl.bioontology.org/ontology/MESH/D006501 http://purl.bioontology.org/ontology/MESH/D054319 http://purl.bioontology.org/ontology/MESH/D017237 http://purl.bioontology.org/ontology/MESH/D018901
Machine permutation	2000
Mapped from	http://purl.bioontology.org/ontology/MESH/C535737 http://purl.bioontology.org/ontology/MESH/C535598 http://purl.bioontology.org/ontology/MESH/C535328 http://purl.bioontology.org/ontology/MESH/C535306 http://purl.bioontology.org/ontology/MESH/C537336 http://purl.bioontology.org/ontology/MESH/C564762 http://purl.bioontology.org/ontology/MESH/C565722 http://purl.bioontology.org/ontology/MESH/C537462
MDA	19991103
MMR	20110705
MN	C10.228.140.163.100 C18.452.648.189 C16.320.565.189 C18.452.132.100
notation	D020739
prefLabel	Brain Diseases, Metabolic, Inborn
TERMUI	T369021 T369005 T369015 T369023 T368999 T369030 T369017 T369003 T369022 T369020 T358165 T369032 T369019 T369002 T369024 T369008 T369018 T369007 T368998 T369001 T369031 T369000 T369006 T369016 T369004
TH	NLM (2000)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D001928 http://purl.bioontology.org/ontology/MESH/D008661

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