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Metadata
ID DOID:0111883
PURL http://purl.obolibrary.org/obo/DOID_0111883 Copy
Name Diamond-Blackfan anemia 5
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29.
https://pubmed.ncbi.nlm.nih.gov/18535205/
Xrefs

MESH:C567280

MIM:612528

Synonyms

DBA5 [EXACT]

RPL35A-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

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