DiseaseID 26290
眼白化病I型
Albinism, Ocular, Type I
NCI2016_02D:An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and phot
Relationship Network
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Disease: 1Formula: 7Target: 16Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26290
- Core Entity Id
- 118858
- Source Entity Count
- 1
- Preferred Name
- Albinism, Ocular, Type I
- Name Cn
- 眼白化病I型
- Name Pinyin
- Yan Bai Hua Bing I Xing
- Name En
- Albinism, Ocular, Type I
- 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:An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and photophobia.
- Version
- v1,v2
- Suppressed
- Yes
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Albinism, Ocular, Type I
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE02843
Etcm Disease
Albinism, Ocular, Type I
Itcmdb Generated
ITX-DISEASE-A96596A64F99
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
1
Page Title
Disease Albinism, Ocular, Type I Details page
Link Disease Id
2317.0
Basic Information
Disease Name
Albinism, Ocular, Type I
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Definition
NCI2016_02D:An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and photophobia.