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Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D054069
http://purl.bioontology.org/ontology/MESH/D054069
|
|---|---|
| Preferred Name | Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
| Definitions |
An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
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| Synonyms |
Electron Transfer Flavoprotein Alpha Subunit Deficiency
Multiple FAD Dehydrogenase Deficiency
Ethylmalonic-Adipic Aciduria
ETFDH Deficiencies
Glutaric Aciduria Type 2
ETFB Deficiency
Ethylmalonic Adipicaciduria
Electron Transfer Flavoprotein Beta Subunit Deficiency
Glutaric Aciduria IIA
MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency)
Ethylmalonic-Adipicaciduria
Acidurias, Ethylmalonic-Adipic
Ethylmalonic-Adipic Acidurias
Glutaric Aciduria II
ETFA Deficiency
MADD (Multiple Acyl CoA Dehydrogenase Deficiency)
Glutaric Aciduria IIB
Glutaric Acidemia Type II
Glutaric Aciduria Type II
ETFB Deficiencies
Glutaric Acidemia, Type 2
Ethylmalonic Adipic Aciduria
Glutaric Aciduria IIC
Aciduria, Ethylmalonic-Adipic
Glutaric Aciduria, Type 2
ETFDH Deficiency
Electron Transfer Flavoprotein Deficiency
Multiple Acyl CoA Dehydrogenase Deficiency
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
ETFA Deficiencies
Electron Transfer Flavoprotein Dehydrogenase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). |
|---|---|
| altLabel |
Electron Transfer Flavoprotein Alpha Subunit Deficiency
Multiple FAD Dehydrogenase Deficiency
Ethylmalonic-Adipic Aciduria
ETFDH Deficiencies
Glutaric Aciduria Type 2
ETFB Deficiency
Ethylmalonic Adipicaciduria
Electron Transfer Flavoprotein Beta Subunit Deficiency
Glutaric Aciduria IIA
MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency)
Ethylmalonic-Adipicaciduria
Acidurias, Ethylmalonic-Adipic
Ethylmalonic-Adipic Acidurias
Glutaric Aciduria II
ETFA Deficiency
MADD (Multiple Acyl CoA Dehydrogenase Deficiency)
Glutaric Aciduria IIB
Glutaric Acidemia Type II
Glutaric Aciduria Type II
ETFB Deficiencies
Glutaric Acidemia, Type 2
Ethylmalonic Adipic Aciduria
Glutaric Aciduria IIC
Aciduria, Ethylmalonic-Adipic
Glutaric Aciduria, Type 2
ETFDH Deficiency
Electron Transfer Flavoprotein Deficiency
Multiple Acyl CoA Dehydrogenase Deficiency
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
ETFA Deficiencies
Electron Transfer Flavoprotein Dehydrogenase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency
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|
| prefLabel | Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
| TH |
OMIM (2013)
NLM (2009)
NLM (2008)
GHR (2014)
NLM (2014)
ORD (2010)
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| notation | D054069
|
| DX | 20080101
|
| Machine permutation | 2008
|
| MN |
C18.452.660.612
C18.452.648.100.614
C16.320.565.100.614
|
| MMR | 20130708
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| Mapped from | |
| 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
|
| HN | 2008
|
| subClassOf | |
| Semantic type UMLS property | |
| DC | 1
|
| MDA | 20070709
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| type | |
| tui | T047
|
| cui |
C1856403
C1856405
C0268596
C1856401
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| Inverse of AQ |
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| TERMUI |
T679989
T679996
T679995
T679998
T679992
T679987
T679997
T843520
T679988
T679994
T680025
T708882
T679999
T680024
T718040
T679993
T679991
T841511
T718041
T679990
T843521
T841510
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