Diamond-Blackfan anemia 1

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Information
Disease name
Diamond-Blackfan anemia 1
Disease ID
DOID:0111895
Description
"A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/9988267/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:1339
Cross Reference ID (Disease Ontology)
MESH:C567302
Cross Reference ID (Disease Ontology)
MIM:105650
Exact Synonym (Disease Ontology)
DBA1
Exact Synonym (Disease Ontology)
RPS19-related Diamond-Blackfan anemia