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_2020_03_01:44600005 UMLS_CUI:C0043346 |
id |
DOID:0050427 |
in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
label |
xeroderma pigmentosum |
notation |
DOID:0050427 |
prefLabel |
xeroderma pigmentosum |
textual 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. |
引自 | |
有_obo_命名空间 |
disease_ontology |
subClassOf |