DiseaseID 15046
线状体肌病2型
disease
NCI2016_02D:An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Symptom: 3Target: 2Links: 5
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15046
- Core Entity Id
- 72923
- Source Entity Count
- 1
- Preferred Name
- Nemaline Myopathy 2
- Name Cn
- 线状体肌病2型
- Name Pinyin
- Xian Zhuang Ti Ji Bing 2 Xing
- Name En
- Nemaline Myopathy 2
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Nemaline Myopathy 2
Role
preferred
Name
NEM2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016726
Omim
256030
Umls
C1850569
Sym Map
SMDE00585
Do Class
DOID:630DOID:7
Dis Ge Net
C1850569
Umls Sty
T047
Me Sh Class
C05C10
Tcmbank Disease
20334
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
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
Disease Definition
NCI2016_02D:An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
Me Sh Disease Class
Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome