DiseaseID 18054

甲基丙二酸半醛脱氢酶缺乏症

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: 1Formula: 5Herb: 3Symptom: 2Target: 19Links: 34
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Record Fields

Scalar fields from the final disease record.

Disease Id
18054
Core Entity Id
76385
Source Entity Count
1
Preferred Name
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Name Cn
甲基丙二酸半醛脱氢酶缺乏症
Name Pinyin
Jia Ji Bing Er Suan Ban Quan Tuo Qing Mei Que Fa Zheng
Name En
Methylmalonate Semialdehyde Dehydrogenase Deficiency
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; Nutritional and Metabolic Diseases
Do Class
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Role
preferred
Name
MMSDH DEFICIENCY
Role
alias
Name
MMSDHD
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS021233
Omim
614105
Umls
C3279840
Sym Map
SMDE00530
Dis Ge Net
C3279840
Umls Sty
T047
Me Sh Class
C16C18
Etcm Disease
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tcmbank Disease
16063
Itcmdb Generated
ITX-DISEASE-728043BBDD45

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Methylmalonate Semialdehyde Dehydrogenase Deficiency Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases;Neuronal diseases
Me Sh Disease Class
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
Umls Semantic Type Name
Disease or Syndrome