DiseaseID 6331
组氨酸血症
phenotype
HPO2016_07_04:An increased concentration of histidine in the blood. [HPO:gcarletti]|CSP2006:autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in
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Disease: 1Symptom: 1Target: 19Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6331
- Core Entity Id
- 62965
- Source Entity Count
- 1
- Preferred Name
- Histidinemia
- Name Cn
- 组氨酸血症
- Name Pinyin
- Zu An Suan Xue Zheng
- Name En
- Histidinemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- phenotype
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- phenotype
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- 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 Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- HPO2016_07_04:An increased concentration of histidine in the blood. [HPO:gcarletti]|CSP2006:autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Histidinemia
Role
preferred
Name
High Blood Histidine Level
Role
alias
Name
Hyperhistidinemia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0010906
Herb
HBDIS004542
Omim
235800
Umls
C0220992
Icd10
E70.41
Sym Map
SMDE09486
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0220992
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C16C18
Etcm Disease
Histidinemia
Tcmbank Disease
29641
Itcmdb Generated
ITX-DISEASE-9F07E4A8D475
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Histidinemia Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
phenotype
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 Syndrome
Basic Information
Disease Name
Histidinemia
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Nephrological diseases
Disease Definition
HPO2016_07_04:An increased concentration of histidine in the blood. [HPO:gcarletti]|CSP2006:autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
phenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome