DiseaseID 15542
二羧基氨基酸尿症
disease
SNOMEDCT_US_2016_09_01:Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intest
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Disease: 1Formula: 5Symptom: 1Target: 17Links: 30
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15542
- Core Entity Id
- 73490
- Source Entity Count
- 1
- Preferred Name
- Dicarboxylicaminoaciduria
- Name Cn
- 二羧基氨基酸尿症
- Name Pinyin
- Er Suo Ji An Ji Suan Niao Zheng
- Name En
- Dicarboxylicaminoaciduria
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.|SNOMEDCT_US_2016_09_01:Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dicarboxylicaminoaciduria
Role
preferred
Name
Dicarboxylic Aminoaciduria
Role
preferred
Name
Dcbxa
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017398
Omim
222730
Umls
C1857253
Sym Map
SMDE07898
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1857253
Umls Sty
T047
Me Sh Class
C10C12C13C16C23F01F03
Etcm Disease
Dicarboxylic Aminoaciduria
Tcmbank Disease
2032
Itcmdb Generated
ITX-DISEASE-A9BE138F6AD0
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Dicarboxylic Aminoaciduria 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
Dicarboxylic Aminoaciduria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Mental diseases;Nephrological diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.|SNOMEDCT_US_2016_09_01:Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.
Me Sh Disease Class
Mental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome