DiseaseID 2606

多发性先天畸形-肌张力低下-癫痫发作综合征3型 (MCAHS3)

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: 10Symptom: 4Target: 19Links: 38
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Record Fields

Scalar fields from the final disease record.

Disease Id
2606
Core Entity Id
2952
Source Entity Count
1
Preferred Name
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Name Cn
多发性先天畸形-肌张力低下-癫痫发作综合征3型 (MCAHS3)
Name Pinyin
Duo Fa Xing Xian Tian Ji Xing - Ji Zhang Li Di Xia - Dian Xian Fa Zuo Zong He Zheng 3 Xing (mcahs3)
Name En
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3)
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,v2
Suppressed
No

Names

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

Name
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Role
preferred
Name
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7
Role
alias
Name
GPIBD7
Role
alias
Name
MCAHS3
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS029480
Omim
615398
Umls
C3809356
Sym Map
SMDE00801
Do Class
DOID:0014667DOID:630
Dis Ge Net
C3809356
Umls Sty
T047
Etcm Disease
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Itcmdb Generated
ITX-DISEASE-4B2AEEE5B73F

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 Details page
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
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