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Metadata
ID DOID:0111869
Name photosensitive trichothiodystrophy 2
Definition A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.
https://pubmed.ncbi.nlm.nih.gov/9012405/
Xrefs

OMIM:616390

Synonyms

TTD2 [EXACT]

Parent Relationships

is_a photosensitive trichothiodystrophy

is_a autosomal recessive disease

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