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DO Term : nonphotosensitive trichothiodystrophy 7 [DOID:0111870] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3.
  • synonyms:
  • 618546,
  • OMIM:618546,
  • TTD7
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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