DiseaseID 2602

伴有脑和眼异常的先天性肌营养不良-肌萎缩聚糖病A13型 (MDDGA13)

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: 2Target: 2Links: 4
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Record Fields

Scalar fields from the final disease record.

Disease Id
2602
Core Entity Id
2947
Source Entity Count
1
Preferred Name
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Name Cn
伴有脑和眼异常的先天性肌营养不良-肌萎缩聚糖病A13型 (MDDGA13)
Name Pinyin
Ban You Nao He Yan Yi Chang De Xian Tian Xing Ji Ying Yang Bu Liang - Ji Wei Suo Ju Tang Bing A13 Xing (mddga13)
Name En
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 (MDDGA13)
Name Latin
Bilingual Status
complete
Disease Type
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Do Class
disease of anatomical entity; genetic disease
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Role
preferred
Name
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13
Role
alias
Name
MDDGA13
Role
alias
Name
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS029469
Omim
615287
Umls
C3809042
Sym Map
SMDE03290
Do Class
DOID:630DOID:7
Dis Ge Net
C3809042
Umls Sty
T047

Attributes

Merged source attributes and domain-specific metadata.

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