Metadata | |
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ID | DOID:0110845 |
Name | xeroderma pigmentosum group D |
Definition | A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/7849702 |
Xrefs | |
Synonyms |
xeroderma pigmentosum IV [EXACT] xeroderma pigmentosum VIII [EXACT] XP group D [EXACT] XP group H [EXACT] XP4 [EXACT] XP8 [EXACT] XPD [EXACT] XPDC [EXACT] XPH [EXACT] |
Parent Relationships |