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DO Term : photosensitive trichothiodystrophy 2 [DOID:0111869] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.

synonyms:
OMIM:616390,
TTD2,
616390

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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