DiseaseID 14142
联合氧化磷酸化缺陷1型
disease
NCI2016_02D:A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypo
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Disease: 1Symptom: 4Target: 20Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14142
- Core Entity Id
- 71885
- Source Entity Count
- 1
- Preferred Name
- Combined Oxidative Phosphorylation Deficiency 1
- Name Cn
- 联合氧化磷酸化缺陷1型
- Name Pinyin
- Lian He Yang Hua Lin Suan Hua Que Xian 1 Xing
- Name En
- Combined Oxidative Phosphorylation Deficiency 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Nervous System Diseases; 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; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Combined Oxidative Phosphorylation Deficiency 1
Role
preferred
Name
COXPD1
Role
alias
Name
HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015486
Omim
609060
Umls
C1836797
Sym Map
SMDE01899
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1836797
Umls Sty
T047
Me Sh Class
C06C10C16C18
Etcm Disease
Combined Oxidative Phosphorylation Deficiency 1
Tcmbank Disease
12358
Itcmdb Generated
ITX-DISEASE-332F44A71816
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Combined Oxidative Phosphorylation Deficiency 1 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
Combined Oxidative Phosphorylation Deficiency 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction.
Me Sh Disease Class
Digestive System Diseases; 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; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome