OBO ID: DOID:0111897
Term Name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Search Ontology:
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 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSR2 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 300946
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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