DiseaseID 4528
马查多-约瑟夫病
disease
NCI2016_02D:A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.|MSH2017_2016_08_12:A dominantly-inherited ATAXIA
Relationship Network
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Disease: 1Herb: 5Symptom: 3Target: 17Links: 32
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4528
- Core Entity Id
- 60889
- Source Entity Count
- 1
- Preferred Name
- Machado-Joseph Disease
- Name Cn
- 马查多-约瑟夫病
- Name Pinyin
- Ma Cha Duo - Yue Se Fu Bing
- Name En
- Machado-Joseph Disease
- 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 entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.|MSH2017_2016_08_12:A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Machado-Joseph Disease
Role
preferred
Name
Machado-Joseph Disease Type I
Role
preferred
Name
Machado-Joseph Disease Type II
Role
preferred
Name
Machado-Joseph Disease Type III
Role
preferred
Name
Machado-Joseph Disease Type IV
Role
preferred
Name
AZOREAN NEUROLOGIC DISEASE
Role
alias
Name
MJD
Role
alias
Name
NIGROSPINODENTATAL DEGENERATION
Role
alias
Name
SCA3
Role
alias
Name
SPINOCEREBELLAR ATAXIA 3
Role
alias
Name
SPINOCEREBELLAR ATROPHY III
Role
alias
Name
SPINOPONTINE ATROPHY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001820HBDIS011408HBDIS011409HBDIS011410HBDIS011411
Me Sh
D017827
Omim
109150
Umls
C0024408
Sym Map
SMDE02830
Do Class
DOID:630DOID:7
Dis Ge Net
C0024408C0751668C0751669C0751670C0751671
Umls Sty
T047
Me Sh Class
C10C16
Etcm Disease
Machado-Joseph Disease
Tcmbank Disease
2613032254518488519160
Itcmdb Generated
ITX-DISEASE-2FA3A2454EAF
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Machado-Joseph Disease Details page
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
Basic Information
Disease Name
Machado-Joseph Disease
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.|MSH2017_2016_08_12:A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
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