DiseaseID 7617
3-甲基巴豆酰辅酶A羧化酶1缺乏症
disease
NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine.
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Disease: 1Target: 32Links: 33
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7617
- Core Entity Id
- 64442
- Source Entity Count
- 1
- Preferred Name
- 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
- Name Cn
- 3-甲基巴豆酰辅酶A羧化酶1缺乏症
- Name Pinyin
- 3- Jia Ji Ba Dou Xian Fu Mei A Suo Hua Mei 1 Que Fa Zheng
- Name En
- 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of anatomical entity; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma.
- Version
- v1,v2
- Suppressed
- Yes
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Role
preferred
Name
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Role
preferred
Name
3-Methylcrotonyl-Coa Carboxylase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006372
Omim
210200
Sym Map
SMDE04710
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0268600
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Tcmbank Disease
6145
Itcmdb Generated
ITX-DISEASE-FD1EBD40405B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
1
Page Title
Disease 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency Details page
Do Class Name
disease of metabolism; genetic disease; disease of anatomical entity
Disease Type
disease
Link Disease Id
3258.0
Do Disease Class
genetic disease; disease of anatomical entity; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Global Category
Genetic diseases;Metabolic diseases
Anatomical Category
Muscle diseases
Disease Definition
NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma.
Me Sh Disease Class
Nervous System Diseases; 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; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome