01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Alport Syndrome, X-Linked
- Standard Disease Name
- alport syndrome, x-linked
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D057130
- OMIM ID
- 604537|614186|61271|608553|615360|613826|613341
- UMLS ID
- C0339527
- HPO ID
- No data
Description and Extensions
- Description
- Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with sever
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Related Targets
target disease8 Targets