01
APTX
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 4
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Ataxia-Telangiectasia
- Standard Disease Name
- ataxia-telangiectasia
- MeSH Tree
- No data
- ICD-10
- G11.3
Identifiers
- DO ID
- No data
- MeSH ID
- D001260
- OMIM ID
- 208900|208910
- UMLS ID
- C1876175|C0004135
- HPO ID
- No data
Description and Extensions
- Description
- Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological sign