DiseaseID 24739
莱伯视神经萎缩
Leber Optic Atrophy
NCI2016_02D:A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It m
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Disease: 1Formula: 12Herb: 8Target: 15Links: 44
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 24739
- Core Entity Id
- 106025
- Source Entity Count
- 1
- Preferred Name
- Leber Optic Atrophy
- Name Cn
- 莱伯视神经萎缩
- Name Pinyin
- Lai Bo Shi Shen Jing Wei Suo
- Name En
- Leber Optic Atrophy
- 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 hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral.|MSH2017_2016_08_12:A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))|HPO2016_07_04:Degeneration of retinal ganglion cells and their axons. [HPO:probinson]
- Version
- v1,v2
- Suppressed
- Yes
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Leber Optic Atrophy
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE05009
Etcm Disease
Leber Optic Atrophy
Tcmbank Disease
26324
Itcmdb Generated
ITX-DISEASE-8FDA3FD3C229ITX-DISEASE-F51A6CADAC62
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
1
Page Title
Disease Leber Optic Atrophy Details page
Link Disease Id
3665.0
Basic Information
Disease Name
Leber Optic Atrophy
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral.|MSH2017_2016_08_12:A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))|HPO2016_07_04:Degeneration of retinal ganglion cells and their axons. [HPO:probinson]