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Metadata
ID DOID:0050427
Name xeroderma pigmentosum
Definition An autosomal recessive disease 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

GARD:7910

ICD10CM:Q82.1

MESH:D014983

NCI:C3452

ORDO:910

SNOMEDCT_US_2018_03_01:44600005

UMLS_CUI:C0043346

Subsets

DO_FlyBase_slim

NCIthesaurus

Parent Relationships

is_a autosomal recessive disease

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