DiseaseID 26401
脑铁沉积性神经变性病1型
Neurodegeneration With Brain Iron Accumulation 1
NCI2016_02D:A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, lewy body (LB)-like intraneuronal inclusions and neurofibrillary tangles.|NCI2016_02D:A rare autosomal recessiv
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Disease: 1Symptom: 12Target: 9Links: 21
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26401
- Core Entity Id
- 118969
- Source Entity Count
- 1
- Preferred Name
- Neurodegeneration With Brain Iron Accumulation 1
- Name Cn
- 脑铁沉积性神经变性病1型
- Name Pinyin
- Nao Tie Chen Ji Xing Shen Jing Bian Xing Bing 1 Xing
- Name En
- Neurodegeneration With Brain Iron Accumulation 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, lewy body (LB)-like intraneuronal inclusions and neurofibrillary tangles.|NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.|MSH2017_2016_08_12:A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Neurodegeneration With Brain Iron Accumulation 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0018523
Sym Map
SMDE03311
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, lewy body (LB)-like intraneuronal inclusions and neurofibrillary tangles.|NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.|MSH2017_2016_08_12:A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)