| Metadata | |
|---|---|
| ID | DOID:0050427 |
| Name | xeroderma pigmentosum |
| Definition | A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:44600005 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |