xeroderma pigmentosum

Term ID

DOID:0050427

Synonyms

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. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract

References

GARD:7910
ICD10CM:Q82.1
MESH:D014983
NCI:C3452
ORDO:910
SNOMEDCT_US_2023_03_01:44600005
UMLS_CUI:C0043346

Ontology

Human Disease ( DOID:0050427 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: De Sanctis-Cacchione syndrome xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D ... Show All 9 Terms

De Sanctis-Cacchione syndrome xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations