Search Ontology:
Human Disease

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Term ID
DOID:0111897
Synonyms
  • DBA14
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0111897 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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