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Photosensitive Trichothiodystrophy 2

Disease ID: disease_node_19261

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DbxrefMIM:616390
SubclassofDOID_2960, DOID_0050737
Data SourceDOID
SynonymsTTD2
Doid Labelphotosensitive trichothiodystrophy 2
Doid DescriptionA photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_19261
Doid IdDOID_0111869
LabelPhotosensitive Trichothiodystrophy 2