DiseaseID 14552
博滕视网膜营养不良
disease
SNOMEDCT_US_2016_09_01:Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations ar
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Disease: 1Symptom: 1Target: 19Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14552
- Core Entity Id
- 72355
- Source Entity Count
- 1
- Preferred Name
- Bothnia Retinal Dystrophy
- Name Cn
- 博滕视网膜营养不良
- Name Pinyin
- Bo Teng Shi Wang Mo Ying Yang Bu Liang
- Name En
- Bothnia Retinal Dystrophy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- SNOMEDCT_US_2016_09_01:Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Bothnia Retinal Dystrophy
Role
preferred
Name
VASTERBOTTEN DYSTROPHY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016058
Omim
607475
Umls
C1843816
Sym Map
SMDE05030
Do Class
DOID:7
Dis Ge Net
C1843816
Umls Sty
T047
Me Sh Class
C11C16
Etcm Disease
Bothnia Retinal Dystrophy
Tcmbank Disease
24755
Itcmdb Generated
ITX-DISEASE-F718F9AB37D9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Bothnia Retinal Dystrophy Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Bothnia Retinal Dystrophy
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration.
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Umls Semantic Type Name
Disease or Syndrome