DiseaseID 15435
α-甲基酰基辅酶A消旋酶缺乏症
disease
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic l
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Disease: 1Formula: 10Herb: 4Symptom: 12Target: 20Links: 50
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15435
- Core Entity Id
- 73368
- Source Entity Count
- 1
- Preferred Name
- Alpha-Methylacyl-Coa Racemase Deficiency
- Name Cn
- α-甲基酰基辅酶A消旋酶缺乏症
- Name Pinyin
- Α- Jia Ji Xian Ji Fu Mei A Xiao Xuan Mei Que Fa Zheng
- Name En
- Alpha-Methylacyl-Coa Racemase Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; 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; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, 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 Definition
- Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic l
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Alpha-Methylacyl-Coa Racemase Deficiency
Role
preferred
Name
Bile Acid Synthesis Defect, Congenital, 4
Role
preferred
Name
Congenital Bile Acid Synthesis Defect Type 4
Role
preferred
Name
Bile Acid Synthesis Defect, Congenital, 2
Role
preferred
Name
Bile Acid Synthesis Defect, Congenital, 3
Role
preferred
Name
Congenital Bile Acid Synthesis Defect Type 1
Role
preferred
Name
2-methylacyl-CoA Racemase Deficiency
Role
alias
Name
AMACR DEFICIENCY
Role
alias
Name
AMACRD
Role
alias
Name
Alpha-methyl-acyl-CoA Racemase Deficiency
Role
alias
Name
BASD4
Role
alias
Name
CBAS4
Role
alias
Name
CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID
Role
alias
Name
Congenital Bile Acid Synthesis Defect 2
Role
alias
Name
Congenital Bile Acid Synthesis Defect 3
Role
alias
Name
Congenital Bile Acid Synthesis Defect 4
Role
alias
Name
Liver Disease-retinitis Pigmentosa-polyneuropathy-epilepsy Syndrome
Role
alias
Name
TRIHYDROXYCOPROSTANIC ACID IN BILE
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017265HBDIS017530HBDIS020777HBDIS021297
Omim
214950235555613812614307
Umls
C1843116C1856127C1858328C3151147C3280428
Icd10
K76.8
Sym Map
SMDE01063SMDE01106SMDE01237SMDE01605SMDE02118SMDE02280
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1856127C1858328C3151147C3280428
Orphanet
79095793017930279303
Umls Sty
T047
Me Sh Class
C06C10C16C18
Etcm Disease
Alpha-Methylacyl-Coa Racemase DeficiencyBile Acid Synthesis Defect, Congenital, 2Bile Acid Synthesis Defect, Congenital, 3Bile Acid Synthesis Defect, Congenital, 4
Tcmbank Disease
1483415572291465406
Itcmdb Generated
ITX-DISEASE-06EC219D35B4ITX-DISEASE-545262F32BD9ITX-DISEASE-B8B05F39C874ITX-DISEASE-E8B5485DBAA8
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Alpha-Methylacyl-Coa Racemase Deficiency Details pageDisease Bile Acid Synthesis Defect, Congenital, 2 Details pageDisease Bile Acid Synthesis Defect, Congenital, 3 Details pageDisease Bile Acid Synthesis Defect, Congenital, 4 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
Alpha-Methylacyl-Coa Racemase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Liver diseases;Neuronal diseases
Disease Name
Bile Acid Synthesis Defect, Congenital, 2
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Bile Acid Synthesis Defect, Congenital, 3
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Bile Acid Synthesis Defect, Congenital, 4
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Definition
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic lCongenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurologNCI2016_02D:A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy.
Me Sh Disease Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous 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; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome