DiseaseID 2511

孤立性ATP合酶缺乏症

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: 12Links: 15
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Record Fields

Scalar fields from the final disease record.

Disease Id
2511
Core Entity Id
2839
Source Entity Count
1
Preferred Name
Isolated Atp Synthase Deficiency
Name Cn
孤立性ATP合酶缺乏症
Name Pinyin
Gu Li Xing Atp He Mei Que Fa Zheng
Name En
Isolated Atp Synthase Deficiency
Name Latin
Bilingual Status
complete
Disease Type
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Do Class
genetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
Disease Definition
Version
v1
Suppressed
No

Names

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

Name
Isolated Atp Synthase Deficiency
Role
preferred
Name
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Role
preferred
Name
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Role
preferred
Name
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Role
preferred
Name
MC5DN1
Role
alias
Name
MC5DN3
Role
alias
Name
MC5DN4
Role
alias
Name
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5A1 TYPE
Role
alias
Name
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE
Role
alias
Name
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
Role
alias
Name
Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 3
Role
alias
Name
Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 4
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS029314HBDIS029323HBDIS029465HBDIS030170
Omim
604273614053615228
Umls
C2700431C3276276C3279708C3808899
Sym Map
SMDE00899SMDE03382SMDE04859
Do Class
DOID:0014667DOID:630
Dis Ge Net
C3276276C3279708C3808899C4757950
Umls Sty
T047

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Dis Ge Net Disease Type
disease