Search Ontology:
Human Disease
xeroderma pigmentosum group A
- Term ID
- DOID:0110843
- Synonyms
-
- xeroderma pigmentosum 1
- xeroderma pigmentosum complementation group A
- XP group A
- XP1
- XPA
- Definition
- 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. (2)
- References
-
- ICD10CM:Q82.1
- MIM:278700
- Ontology
- Human Disease ( DOID:0110843 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models