Preferred Name |
xeroderma pigmentosum |
|
Synonyms |
|
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050427 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2020_03_01:44600005 UMLS_CUI:C0043346 MESH:D014983 ICD10CM:Q82.1 GARD:7910 NCI:C3452 ORDO:910 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050427 |
|
imported from | ||
in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus 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. |
|
subClassOf |
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