DiseaseID 4679
肌阵挛
phenotype
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4679
- Core Entity Id
- 61062
- Source Entity Count
- 1
- Preferred Name
- Myoclonus
- Name Cn
- 肌阵挛
- Name Pinyin
- Ji Zhen Luan
- Name En
- Myoclonus
- Name Latin
- Bilingual Status
- complete
- Disease Type
- phenotype
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- phenotype
- Mesh Class
- Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Nervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- Disease Definition
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Myoclonus
Role
preferred
Name
Myoclonus Simplex
Role
preferred
Name
Myoclonus, Action
Role
preferred
Name
Myoclonus, Eyelid
Role
preferred
Name
Myoclonus, Intention
Role
preferred
Name
Myoclonus, Lower Extremity
Role
preferred
Name
Myoclonus, Nocturnal
Role
preferred
Name
Myoclonus, Oculopalatal
Role
preferred
Name
Myoclonus, Palatal
Role
preferred
Name
Myoclonus, Segmental
Role
preferred
Name
Myoclonus, Upper Extremity
Role
preferred
Name
Polymyoclonus
Role
preferred
Name
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Role
preferred
Name
Blepharoclonus
Role
alias
Name
Eyelid Myoclonia
Role
alias
Name
Eyelid Myoclonus
Role
alias
Name
Myoclonic Jerks
Role
alias
Name
Palatal Myoclonus
Role
alias
Name
Sleep Myoclonus
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001336HP:0010530HP:0012323HP:0025097
Herb
HBDIS001556HBDIS002030HBDIS002267HBDIS010376HBDIS011249HBDIS011250HBDIS011251HBDIS011252HBDIS011253HBDIS011254HBDIS011255HBDIS011256
Me Sh
D009207
Umls
C1834569
Icd10
G25.3
Sym Map
SMDE00836
Dis Ge Net
C0021712C0027066C0030214C0585540C0751348C0751349C0751350C0751351C0751352C0751353C0751354C0751355
Orphanet
2590
Umls Sty
T047T184
Hpo Class
HP:0000707
Me Sh Class
C10C23
Tcmbank Disease
11263163451991120075209892108022228224983011832298329842498798
Itcmdb Generated
ITX-DISEASE-B6624979E82B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Type
phenotype
Hpo Class Name
Abnormality of the nervous system
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Disease or SyndromeSign or Symptom
Disease Definition
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with
Me Sh Disease Class
Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
phenotype
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeSign or Symptom