BioAssay Ontology

Last uploaded: January 17, 2025

Id	http://purl.obolibrary.org/obo/DOID_0050427 http://purl.obolibrary.org/obo/DOID_0050427
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].
Type	http://www.w3.org/2002/07/owl#Class

label	xeroderma pigmentosum
comment	OMIM mapping confirmed by DO. [SN].
prefLabel	xeroderma pigmentosum
has cross-reference	SNOMEDCT_US_2020_03_01:44600005 UMLS_CUI:C0043346 MESH:D014983 ICD10CM:Q82.1 GARD:7910 NCI:C3452 ORDO:910 See more See less
notation	DOID:0050427
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim
id	DOID:0050427
has_obo_namespace	disease_ontology
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	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_225
imported from	http://purl.obolibrary.org/obo/doid.owl
type	http://www.w3.org/2002/07/owl#Class

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