Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Formula: 20Herb: 6Symptom: 3Target: 16Links: 53
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17960
- Core Entity Id
- 76277
- Source Entity Count
- 1
- Preferred Name
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
- Name Cn
- 多发性先天畸形-肌张力低下-癫痫综合征2型
- Name Pinyin
- Duo Fa Xing Xian Tian Ji Xing - Ji Zhang Li Di Xia - Dian Xian Zong He Zheng 2 Xing
- Name En
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- 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 of metabolism; genetic disease
- Disease Definition
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Role
preferred
Name
EIEE20
Role
alias
Name
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20
Role
alias
Name
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4
Role
alias
Name
GPIBD4
Role
alias
Name
MCAHS2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS021093
Omim
300868
Umls
C3275508
Sym Map
SMDE02307
Do Class
DOID:0014667DOID:630
Dis Ge Net
C3275508
Umls Sty
T047
Etcm Disease
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Tcmbank Disease
17190
Itcmdb Generated
ITX-DISEASE-41F84402E14A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Gastrointestinal Diseases;Nephrological diseases;Neuronal diseases
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome