DiseaseID 14510

先天性胆汁酸合成缺陷1型

disease

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Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Herb: 3Symptom: 5Target: 17Links: 32
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Record Fields

Scalar fields from the final disease record.

Disease Id
14510
Core Entity Id
72307
Source Entity Count
1
Preferred Name
Bile Acid Synthesis Defect, Congenital, 1
Name Cn
先天性胆汁酸合成缺陷1型
Name Pinyin
Xian Tian Xing Dan Zhi Suan He Cheng Que Xian 1 Xing
Name En
Bile Acid Synthesis Defect, Congenital, 1
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 Diseases
Do Class
disease of anatomical entity; genetic diseasegenetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
Hpo Class Name
Do Class Name
disease of metabolism; genetic diseasegenetic disease; disease of anatomical entity
Disease Definition
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Bile Acid Synthesis Defect, Congenital, 1
Role
preferred
Name
Cholestasis, Progressive Familial Intrahepatic, 4
Role
preferred
Name
Cholestasis, Progressive Familial Intrahepatic 4
Role
preferred
Name
Congenital Bile Acid Synthesis Defect 1
Role
alias
Name
PFIC4
Role
alias
Name
Progressive Familial Intrahepatic Cholestasis 4
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS015999HBDIS020212
Omim
607765615878
Umls
C2931067
Sym Map
SMDE03756SMDE04394
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C1843116C2931067
Umls Sty
T047
Me Sh Class
C06C16C18
Etcm Disease
Bile Acid Synthesis Defect, Congenital, 1Cholestasis, Progressive Familial Intrahepatic, 4
Tcmbank Disease
156162754
Itcmdb Generated
ITX-DISEASE-90E0E984B036ITX-DISEASE-C5A20CBB5035

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
01
Page Title
Disease Bile Acid Synthesis Defect, Congenital, 1 Details pageDisease Cholestasis, Progressive Familial Intrahepatic, 4 Details page
Do Class Name
disease of metabolism; genetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Link Disease Id
1063.0
Do Disease Class
disease of anatomical entity; genetic diseasegenetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Bile Acid Synthesis Defect, Congenital, 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Cholestasis, Progressive Familial Intrahepatic, 4
Global Category
Cancer diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Liver diseases
Me Sh Disease Class
Digestive 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 Diseases
Umls Semantic Type Name
Disease or Syndrome