DiseaseID 15416
L-2-羟基戊二酸尿症
disease
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epi
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Disease: 1Symptom: 4Target: 18Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15416
- Core Entity Id
- 73346
- Source Entity Count
- 1
- Preferred Name
- L-2-Hydroxyglutaric Aciduria
- Name Cn
- L-2-羟基戊二酸尿症
- Name Pinyin
- L-2- Qiang Ji Wu Er Suan Niao Zheng
- Name En
- L-2-Hydroxyglutaric Aciduria
- 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 anatomical entity; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Do Class Name
- disease of metabolism; genetic disease; disease of anatomical entity
- Disease Definition
- L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epi
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
L-2-Hydroxyglutaric Aciduria
Role
preferred
Name
L-2-Hydroxyglutaric Acidemia
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0040144HP:0040147
Herb
HBDIS017243HBDIS022775
Omim
236792
Umls
C1855995C3888081
Sym Map
SMDE04183SMDE10249
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C1855995C3888081
Orphanet
79314
Umls Sty
T047
Hpo Class
HP:0000119HP:0001939
Me Sh Class
C10C16C18
Etcm Disease
L-2-Hydroxyglutaric Aciduria
Tcmbank Disease
17232246942600527320
Itcmdb Generated
ITX-DISEASE-5284281B2426ITX-DISEASE-8296ED13FE4AITX-DISEASE-C48C2BA4DC84
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease L-2-Hydroxyglutaric Aciduria Details page
Do Class Name
disease of metabolism; genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Disease Class
genetic disease; disease of anatomical entity; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
L-2-Hydroxyglutaric Aciduria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Eye diseases;Mental diseases;Nephrological diseases;Neuronal diseases
Disease Definition
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epi
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