OBO ID: DOID:0050427
Term Name: xeroderma pigmentosum Search Ontology:
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:
has subtype:
OTHER xeroderma pigmentosum PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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