01
ATXN2
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Glaucoma, Primary Open Angle
- Standard Disease Name
- glaucoma, primary open angle
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D056732
- OMIM ID
- 613230|170100|MTHU016291
- UMLS ID
- C0268532
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.|MSH2017_2016_08_12:Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.
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