DiseaseID 7612
非酮性高甘氨酸血症
disease
NCI2016_02D:An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include leth
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Disease: 1Symptom: 6Target: 19Links: 30
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7612
- Core Entity Id
- 64436
- Source Entity Count
- 1
- Preferred Name
- Nonketotic Hyperglycinemia
- Name Cn
- 非酮性高甘氨酸血症
- Name Pinyin
- Fei Tong Xing Gao Gan An Suan Xue Zheng
- Name En
- Nonketotic Hyperglycinemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; 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; Nervous System Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Nonketotic Hyperglycinemia
Role
preferred
Name
Glycine Encephalopathy
Role
preferred
Name
Hyperglycinemia, Transient Neonatal
Role
preferred
Name
Hyperglycinemia, Nonketotic, Type I
Role
preferred
Name
Hyperglycinemia, Nonketotic, Type II
Role
preferred
Name
Hyperglycinemia, Nonketotic, Type III
Role
preferred
Name
GCE
Role
alias
Name
HYPERGLYCINEMIA, NONKETOTIC
Role
alias
Name
NKH
Role
alias
Name
TNH
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0008288
Herb
HBDIS006356HBDIS006357HBDIS006358HBDIS011440HBDIS011441
Me Sh
D020158
Omim
605899
Umls
C0268560C0751748
Icd10
E72.51
Sym Map
SMDE05143SMDE09612SMDE11538
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268560C0268561C0268562C0751747C0751748
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C10C16C18
Etcm Disease
Glycine Encephalopathy
Tcmbank Disease
2445278752803284365976732
Itcmdb Generated
ITX-DISEASE-0B452385D4DBITX-DISEASE-2FAA676D2C45ITX-DISEASE-C3D8F2FF43E7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Glycine Encephalopathy Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
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
Glycine Encephalopathy
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases;Respiratory diseases
Disease Definition
NCI2016_02D:An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
Me Sh Disease Class
Nervous 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; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome