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DO Term : Diamond-Blackfan anemia 14 with mandibulofacial dysostosis [DOID:0111897] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22.
  • synonyms:
  • DBA14,
  • 300946,
  • OMIM:300946
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Disease

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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