DiseaseID 16017

终板乙酰胆碱酯酶缺乏症

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: 1Target: 2Links: 2
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Record Fields

Scalar fields from the final disease record.

Disease Id
16017
Core Entity Id
74031
Source Entity Count
1
Preferred Name
Endplate Acetylcholinesterase Deficiency (Disorder)
Name Cn
终板乙酰胆碱酯酶缺乏症
Name Pinyin
Zhong Ban Yi Xian Dan Jian Zhi Mei Que Fa Zheng
Name En
Endplate Acetylcholinesterase Deficiency (Disorder)
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
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Hpo Class Name
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
Version
Suppressed

Names

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

Name
Endplate Acetylcholinesterase Deficiency (Disorder)
Role
preferred
Name
Cms Ic, Formerly
Role
alias
Name
Congenital Myasthenic Syndrome 5
Role
alias
Name
Endplate Acetylcholinesterase Deficiency
Role
alias
Name
Myasthenic Syndrome, Congenital, 5
Role
alias
Name
Myasthenic Syndrome, Congenital, Engel Type
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS018084
Omim
603034
Do Class
DOID:630DOID:7
Dis Ge Net
C1864233
Umls Sty
T047
Me Sh Class
C10C16
Tcmbank Disease
16615

Attributes

Merged source attributes and domain-specific metadata.

Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome