DiseaseID 17436
母系遗传Leigh综合征
disease
SNOMEDCT_US_2016_09_01:A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17436
- Core Entity Id
- 75666
- Source Entity Count
- 1
- Preferred Name
- Maternally Inherited Leigh Syndrome
- Name Cn
- 母系遗传Leigh综合征
- Name Pinyin
- Mu Xi Yi Chuan Leigh Zong He Zheng
- Name En
- Maternally Inherited Leigh Syndrome
- 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
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Maternally Inherited Leigh Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS020219
Umls
C2931092
Sym Map
SMDE10751
Dis Ge Net
C2931092
Umls Sty
T047
Me Sh Class
C10C16C18
Tcmbank Disease
26039
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA.
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