DiseaseID 17755

肌原纤维肌病,致死性婴儿高张力型,α-B晶状体蛋白相关

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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: 1Target: 1Links: 2
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Record Fields

Scalar fields from the final disease record.

Disease Id
17755
Core Entity Id
76044
Source Entity Count
1
Preferred Name
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Name Cn
肌原纤维肌病,致死性婴儿高张力型,α-B晶状体蛋白相关
Name Pinyin
Ji Yuan Xian Wei Ji Bing , Zhi Si Xing Ying Er Gao Zhang Li Xing ,α-b Jing Zhuang Ti Dan Bai Xiang Guan
Name En
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Name Latin
Bilingual Status
complete
Disease Type
disease
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
genetic disease; disease of anatomical entity
Disease Definition
Version
v1
Suppressed
No

Names

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

Name
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Role
preferred
Name
Fatal Infantile Hypertonic Myofibrillar Myopathy
Role
alias
Name
MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS020796
Omim
613869
Umls
C3151236
Sym Map
SMDE00240
Do Class
DOID:630DOID:7
Dis Ge Net
C3151236
Umls Sty
T047
Tcmbank Disease
28347

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
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
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome