DiseaseID 6415
先天性无转铁蛋白血症
disease
Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculiti
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Disease: 1Experiment: 1Herb: 5Symptom: 4Target: 19Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6415
- Core Entity Id
- 63062
- Source Entity Count
- 1
- Preferred Name
- Congenital Atransferrinemia
- Name Cn
- 先天性无转铁蛋白血症
- Name Pinyin
- Xian Tian Xing Wu Zhuan Tie Dan Bai Xue Zheng
- Name En
- Congenital Atransferrinemia
- 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 DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculiti
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Congenital Atransferrinemia
Role
preferred
Name
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Role
preferred
Name
Alpha 1-Antitrypsin Deficiency
Role
preferred
Name
Alpha-1-Antitrypsin Deficiency
Role
preferred
Name
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
Role
preferred
Name
Atransferrinemia
Role
alias
Name
Hypotransferrinemia, Familial
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0012239
Herb
HBDIS004663HBDIS009908HBDIS021158HBDIS021547
Me Sh
D019896
Omim
209300613490
Umls
C0221757C0521802C1859593C3501835
Icd10
E88.0
Med Dra
10001806
Sym Map
SMDE00953SMDE03081SMDE05729
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0221757C0521802C3277918C3501835
Orphanet
119560
Umls Sty
T033T047
Hpo Class
HP:0001939
Me Sh Class
C06C08C16C18C23
Etcm Disease
Alpha-1-Antitrypsin Deficiency
Tcmbank Disease
1748221354313158834
Itcmdb Generated
ITX-DISEASE-704353766142
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Alpha-1-Antitrypsin Deficiency Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or SyndromeFinding
Basic Information
Disease Name
Alpha-1-Antitrypsin Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases;Nephrological diseases;Respiratory diseases
Disease Definition
Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitiCongenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
Umls Semantic Type Name
Disease or SyndromeFinding