DiseaseID 840
家族性淀粉样神经病
disease
HPO2016_07_04:The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does n
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Disease: 1Formula: 11Herb: 12Symptom: 12Target: 18Links: 59
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 840
- Core Entity Id
- 943
- Source Entity Count
- 1
- Preferred Name
- Amyloid Neuropathies, Familial
- Name Cn
- 家族性淀粉样神经病
- Name Pinyin
- Jia Zu Xing Dian Fen Yang Shen Jing Bing
- Name En
- Amyloid Neuropathies, Familial
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of the eye
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of the eye
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- HPO2016_07_04:The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. [HPO:curators]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Amyloid Neuropathies, Familial
Role
preferred
Name
Amyloid Polyneuropathy, Swiss Type
Role
preferred
Name
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Role
preferred
Name
Familial Amyloid Neuropathy, Portuguese Type
Role
preferred
Name
Familial Amyloid Polyneuropathy, Type Iv
Role
preferred
Name
Familial Amyloid Polyneuropathy, Type V
Role
preferred
Name
Amyloid Polyneuropathy, British Type (Disorder)
Role
preferred
Name
Amyloid Polyneuropathy, Iowa Type
Role
preferred
Name
Familial Amyloid Polyneuropathy, Appalachian Type
Role
preferred
Name
Familial Amyloid Polyneuropathy, Jewish Type
Role
preferred
Name
Familial Amyloid Polyneuropathy, Type Vi
Role
preferred
Name
Amyloid Polyneuropathy, British Type
Role
alias
Name
Biber Haab Dimmer Dystrophy
Role
alias
Name
CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE
Role
alias
Name
DEMENTIA, FAMILIAL BRITISH
Role
alias
Name
FBD
Role
alias
Name
Itm2B-Related Cerebral Amyloid Angiopathy 1
Role
alias
Name
Lattice Corneal Dystrophy
Role
alias
Name
Neuropathic Heredofamilial Amyloidosis
Role
alias
Name
PRESENILE DEMENTIA WITH SPASTIC ATAXIA
Role
alias
Name
Type Vi Familial Amyloid Polyneuropathy
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001149
Herb
HBDIS003927HBDIS004351HBDIS006287HBDIS006288HBDIS006289HBDIS006290HBDIS008029HBDIS012453HBDIS014452HBDIS018397HBDIS027204
Me Sh
D028227
Omim
176500
Umls
C0155127C0206245C0268384C0268386C0936273C1867773
Icd10
E85.1H18.54
Sym Map
SMDE00755SMDE05796SMDE05798SMDE08624SMDE08625SMDE08626
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0155127C0206245C0268383C0268384C0268385C0268386C0342608C0936273C1527337C1867773C4551500
Umls Sty
T047
Hpo Class
HP:0000478
Me Sh Class
C10C16C18
Etcm Disease
Cerebral Amyloid Angiopathy, Itm2b-Related, 1
Tcmbank Disease
114721609818344183871994322726530272352946431446693
Itcmdb Generated
ITX-DISEASE-2888ED8729C6ITX-DISEASE-69DC0C9F4765ITX-DISEASE-85BC7CAA01F4ITX-DISEASE-C17A06539E5DITX-DISEASE-E55096C86A4B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasegroup
Hpo Class Name
Abnormality of the eye
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cerebral Amyloid Angiopathy, Itm2b-Related, 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Ear diseases;Mental diseases;Muscle diseases;Neuronal diseases
Disease Definition
HPO2016_07_04:The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. [HPO:curators]NCI2016_02D:A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves.|MSH2017_2016_08_12:Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome