FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

xeroderma pigmentosum group D

Synonyms
Definitions

A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

ID

http://purl.obolibrary.org/obo/DOID_0110845

definition

A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

xeroderma pigmentosum group D

prefixIRI

DOID:0110845

prefLabel

xeroderma pigmentosum group D

subClassOf

http://purl.obolibrary.org/obo/DOID_0050427

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