Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618313 http://purl.bioontology.org/ontology/OMIM/618313
Preferred Name	DIAMOND-BLACKFAN ANEMIA 20
Synonyms	DBA20
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DBA20
prefLabel	DIAMOND-BLACKFAN ANEMIA 20
Gene Symbol	DBA20 RPS15A
Scope Statement	Caused by mutation in the ribosomal protein S15a gene (RPS15A, 603674.0001) [MOLECULAR BASIS] One family has been reported (last curated February 2019) [MISCELLANEOUS] Onset in the first year of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU064135 http://purl.bioontology.org/ontology/OMIM/MTHU064134
tui	T047
Gene Locus	16p12.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618313
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5193022
OMIM Entry Type	3
OMIM MimType Value	pound

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