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DOID:0110846 - xeroderma pigmentosum group E
Disease Ontology Definition:A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
Synonyms: xeroderma pigmentosum V, XP5, XPE, XP group E
Xenbase Genes
:
ddb2
| MONDO:0010213 - laryngeal pre-cartilage condensation |
| MIM:278740 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; XPE |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
xeroderma pigmentosum (is_a)