DiseaseID 3281
先天性氨基酸代谢异常
disease
NCI2016_02D:An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.|MSH2017_2016_08_12:Disorders affecting ami
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Disease: 1Symptom: 8Target: 12Links: 20
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3281
- Core Entity Id
- 59468
- Source Entity Count
- 1
- Preferred Name
- Amino Acid Metabolism, Inborn Errors
- Name Cn
- 先天性氨基酸代谢异常
- Name Pinyin
- Xian Tian Xing An Ji Suan Dai Xie Yi Chang
- Name En
- Amino Acid Metabolism, Inborn Errors
- 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 Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.|MSH2017_2016_08_12:Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.|CSP2006:disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Amino Acid Metabolism, Inborn Errors
Role
preferred
Name
Amino Acid Metabolism, Inherited Disorders
Role
preferred
Name
Amino Acid Metabolic Disorder
Role
alias
Name
Disorder of Amino-Acid Metabolism, Unspecified
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000124HBDIS011078
Me Sh
D000592
Umls
C0002514
Icd10
E72.9
Sym Map
SMDE05764
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0002514C0750905
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
159206290
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasegroup
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.|MSH2017_2016_08_12:Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.|CSP2006:disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome