xeroderma pigmentosum group A
Information
- Disease name
- xeroderma pigmentosum group A
- Disease ID
- DOID:0110843
- Description
- "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/2168777, url:https\://www.ncbi.nlm.nih.gov/pubmed/2234061]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050427
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q82.1
- Cross Reference ID (Disease Ontology)
- MIM:278700
- Exact Synonym (Disease Ontology)
- xeroderma pigmentosum 1
- Exact Synonym (Disease Ontology)
- xeroderma pigmentosum complementation group A
- Exact Synonym (Disease Ontology)
- XP group A
- Exact Synonym (Disease Ontology)
- XP1
- Exact Synonym (Disease Ontology)
- XPA