DiseaseID 16047

联合氧化磷酸化缺陷2型

disease

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Relationship Network

Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Symptom: 3Target: 3Links: 6
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Record Fields

Scalar fields from the final disease record.

Disease Id
16047
Core Entity Id
74064
Source Entity Count
1
Preferred Name
Combined Oxidative Phosphorylation Deficiency 2
Name Cn
联合氧化磷酸化缺陷2型
Name Pinyin
Lian He Yang Hua Lin Suan Hua Que Xian 2 Xing
Name En
Combined Oxidative Phosphorylation Deficiency 2
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Do Class
genetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Hpo Class Name
Do Class Name
disease of metabolism; genetic disease
Disease Definition
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Combined Oxidative Phosphorylation Deficiency 2
Role
preferred
Name
CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
Role
alias
Name
COXPD2
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS018133
Omim
610498
Umls
C1864843
Sym Map
SMDE05049
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1864843
Umls Sty
T047
Me Sh Class
C05C10C16C18C23
Tcmbank Disease
7609

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
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
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome