OBO ID: DOID:0111894
Term Name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Search Ontology:
Synonyms:
  • DBA15
Definition: A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/24942156/
References:
Ontology: Human Disease   ( DOID:0111894 )
Relationships
is a type of:
OTHER Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RPS28 Diamond Blackfan anemia 15 with mandibulofacial dysostosis 606164
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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