DiseaseID 5447
青少年型脊髓性肌萎缩症
disease
NCI2016_02D:A group of congenital neurodegenerative disorders affecting motor neurons, resulting in muscle weakness and atrophy in childhood. Signs and symptoms include hypotonia, difficulty breathing, poor feeding, and
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Experiment: 1Symptom: 3Target: 12Links: 16
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5447
- Core Entity Id
- 61947
- Source Entity Count
- 1
- Preferred Name
- Juvenile Spinal Muscular Atrophy
- Name Cn
- 青少年型脊髓性肌萎缩症
- Name Pinyin
- Qing Shao Nian Xing Ji Sui Xing Ji Wei Suo Zheng
- Name En
- Juvenile Spinal Muscular Atrophy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A group of congenital neurodegenerative disorders affecting motor neurons, resulting in muscle weakness and atrophy in childhood. Signs and symptoms include hypotonia, difficulty breathing, poor feeding, and flaccid quadriplegia.|MSH2017_2016_08_12:A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Juvenile Spinal Muscular Atrophy
Role
preferred
Name
Muscular Atrophy, Spinal, Infantile Chronic Form
Role
preferred
Name
Muscular Atrophy, Spinal, Type Ii
Role
preferred
Name
Spinal Muscular Atrophies Of Childhood
Role
preferred
Name
Spinal Muscular Atrophy, Type Ii
Role
preferred
Name
HMN (Hereditary Motor Neuropathy) Proximal Type I
Role
preferred
Name
Infantile Spinal Muscular Atrophy, Type I [Werdnig-Hoffman]
Role
alias
Name
Intermediate Spinal Muscular Atrophy
Role
alias
Name
MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
Role
alias
Name
SMA II
Role
alias
Name
SMA2
Role
alias
Name
Spinal Muscular Atrophy, Type I
Role
alias
Name
Spinal Muscular Atrophy, Type Iii
Role
alias
Name
Survival Motor Neuron Spinal Muscular Atrophy
Role
alias
Name
Werdnig-Hoffmann Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003144HBDIS003674HBDIS008658HBDIS010695HBDIS020284
Me Sh
D014897
Omim
253300253400253550
Umls
C0393538C0700595C2931358
Icd10
G12.0
Sym Map
SMDE00766SMDE11168SMDE11169SMDE13345
Do Class
DOID:630DOID:7
Dis Ge Net
C0043116C0152109C0393538C0700595C2931358
Umls Sty
T047
Me Sh Class
C10C16
Tcmbank Disease
141242366224948250967355
Itcmdb Generated
ITX-DISEASE-D96BA3563878ITX-DISEASE-FC9DEF93FA8E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A group of congenital neurodegenerative disorders affecting motor neurons, resulting in muscle weakness and atrophy in childhood. Signs and symptoms include hypotonia, difficulty breathing, poor feeding, and flaccid quadriplegia.|MSH2017_2016_08_12:A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome