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Metadata
ID	DOID:0111873
Name	photosensitive trichothiodystrophy 1
Definition	A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. https://pubmed.ncbi.nlm.nih.gov/9195225/
Xrefs	MIM:601675 NCI:C156433
Subsets	NCIthesaurus
Synonyms	TTD1 [EXACT]
Parent Relationships	is_a photosensitive trichothiodystrophy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance