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Brain Diseases, Metabolic, Inborn

Go to external page http://purl.bioontology.org/ontology/MESH/D020739

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.

Term info

Label

Brain Diseases, Metabolic, Inborn

Synonyms
  • Angeborene Stoffwechselkrankheiten, Gehirn (DE)
  • Brain Diseases, Metabolic, Familial
  • Brain Diseases, Metabolic, Inherited
  • Brain Syndrome, Metabolic, Inborn
  • CNS Metabolic Disorders, Inborn
  • Central Nervous System Inborn Metabolic Diseases
  • Central Nervous System Inborn Metabolic Disorders
  • Encephalopathies, Metabolic, Inborn
  • Familial Metabolic Brain Diseases
  • Familial Metabolic Disorders, Brain
  • Familiäre Stoffwechselkrankheiten des Gehirns (DE)
  • Hirnkrankheiten, metabolische, angeborene (DE)
  • Inborn Errors of Metabolism, Brain
  • Inborn Metabolic Brain Diseases
  • Inborn Metabolic Brain Disorders
  • Inborn Metabolic Disorders, Brain
  • Inherited Metabolic Brain Diseases
  • Inherited Metabolic Disorders, Brain
  • Metabolic Brain Diseases, Familial
  • Metabolic Brain Diseases, Inborn
  • Metabolic Brain Diseases, Inherited
  • Metabolic Brain Syndrome, Inborn
  • Metabolic Diseases, Inborn, Brain
  • Metabolic Diseases, Inborn, Central Nervous System
  • Metabolic Disorders, Brain, Inherited
  • Metabolic Disorders, CNS, Inborn
  • Metabolic Disorders, Familial, Brain
  • Stoffwechselkrankheiten, angeborene, Gehirn (DE)
  • Zentralnervensystem, angeborene Stoffwechselkrankheiten (DE)
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

DC

1

DX

20000101

FX

D008607

HN

2000

MDA

19991103

MMR

20110705

MN

C10.228.140.163.100, C18.452.132.100, C18.452.648.189, C16.320.565.189

PM

2000

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D008607

SIB

http://purl.bioontology.org/ontology/MESH/D008052, http://purl.bioontology.org/ontology/MESH/D018901, http://purl.bioontology.org/ontology/MESH/D012202, http://purl.bioontology.org/ontology/MESH/D011686, http://purl.bioontology.org/ontology/MESH/D017237, http://purl.bioontology.org/ontology/MESH/D011371, http://purl.bioontology.org/ontology/MESH/D015499, http://purl.bioontology.org/ontology/MESH/D008664, http://purl.bioontology.org/ontology/MESH/D016464, http://purl.bioontology.org/ontology/MESH/D043202, http://purl.bioontology.org/ontology/MESH/D030401, http://purl.bioontology.org/ontology/MESH/D014899, http://purl.bioontology.org/ontology/MESH/D054319, http://purl.bioontology.org/ontology/MESH/D028226, http://purl.bioontology.org/ontology/MESH/D000592, http://purl.bioontology.org/ontology/MESH/D020157, http://purl.bioontology.org/ontology/MESH/D006501, http://purl.bioontology.org/ontology/MESH/D007647, http://purl.bioontology.org/ontology/MESH/D017590, http://purl.bioontology.org/ontology/MESH/D006933, http://purl.bioontology.org/ontology/MESH/D002239

TERMUI

T369031, T369032, T369030, T369019, T369017, T369018, T369015, T369016, T369000, T369022, T369001, T369023, T369020, T369021, T369008, T369006, T368998, T369007, T369004, T369005, T369002, T369024, T369003, T358165, T368999

TH

NLM (2000)

cui

C0752109, C0752107, C0752110

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C535328, http://purl.bioontology.org/ontology/MESH/C535306, http://purl.bioontology.org/ontology/MESH/C535737, http://purl.bioontology.org/ontology/MESH/C537336, http://purl.bioontology.org/ontology/MESH/C535598, http://purl.bioontology.org/ontology/MESH/C565722, http://purl.bioontology.org/ontology/MESH/C537462, http://purl.bioontology.org/ontology/MESH/C564762

tui

T047