DiseaseID 2514
戊二酸尿症IIc型
disease
NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme elec
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Disease: 1Formula: 20Symptom: 8Target: 21Links: 52
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2514
- Core Entity Id
- 2842
- Source Entity Count
- 1
- Preferred Name
- Glutaric Aciduria Iic
- Name Cn
- 戊二酸尿症IIc型
- Name Pinyin
- Wu Er Suan Niao Zheng Iic Xing
- Name En
- Glutaric Aciduria Iic
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly.|NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia.|MSH2017_2016_08_12: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).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glutaric Aciduria Iic
Role
preferred
Name
Etfa Deficiencies
Role
preferred
Name
GLUTARIC ACIDEMIA IIB
Role
preferred
Name
GLUTARIC ACIDEMIA IIC
Role
preferred
Name
Glutaric Acidemia Iia
Role
preferred
Name
Glutaric Aciduria IIA
Role
preferred
Name
Glutaric Aciduria IIB
Role
preferred
Name
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Role
preferred
Name
Multiple Acyl-Coa Dehydrogenase Deficiency
Role
preferred
Name
Etfa Deficiency
Role
alias
Name
Etfb Deficiency
Role
alias
Name
Etfdh Deficiency
Role
alias
Name
Ethylmalonic-Adipicaciduria
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006371HBDIS017292HBDIS017293HBDIS017294HBDIS021166HBDIS021167HBDIS029317
Me Sh
D054069
Omim
231680
Umls
C0268596C1856401C1856403C1856405C3278154C3278155C3278156
Icd10
E71.313
Sym Map
SMDE01504SMDE08516SMDE09073SMDE11144
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268596C1856401C1856403C1856405C3278154C3278155C3278156
Umls Sty
T047
Me Sh Class
C16C18
Etcm Disease
Multiple Acyl-Coa Dehydrogenase Deficiency
Tcmbank Disease
11617859198612007924983123
Itcmdb Generated
ITX-DISEASE-121286D1190DITX-DISEASE-EE89641D390E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Multiple Acyl-Coa Dehydrogenase Deficiency Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Multiple Acyl-Coa Dehydrogenase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly.|NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia.|MSH2017_2016_08_12: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).
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome