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DO Term : photosensitive trichothiodystrophy 3 [DOID:0111871] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.

synonyms:
trichothiodystrophy complementation group A,
OMIM:616395,
616395,
TTD3

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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