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loading...| Preferred Name |
xeroderma pigmentosum |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050427 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ORDO:910 GARD:7910 NCI:C3452 MESH:D014983 ICD10CM:Q82.1 SNOMEDCT_US_2022_09_01:44600005 UMLS_CUI:C0043346 |
| 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. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050427 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
xeroderma pigmentosum |
| notation |
DOID:0050427 |
| prefLabel |
xeroderma pigmentosum |
| subClassOf |
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