Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615550 http://purl.bioontology.org/ontology/OMIM/615550
Preferred Name	DIAMOND-BLACKFAN ANEMIA 12
Synonyms	DBA12
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DBA12
prefLabel	DIAMOND-BLACKFAN ANEMIA 12
Gene Symbol	RPL15 DBA12
Scope Statement	Onset prenatal or first months of life [MISCELLANEOUS] Caused by mutation in the ribosomal protein L15 gene (RPL15, 604174.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU009000 http://purl.bioontology.org/ontology/OMIM/MTHU009001 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU071996 http://purl.bioontology.org/ontology/OMIM/MTHU044597 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU044596 http://purl.bioontology.org/ontology/OMIM/MTHU011896 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU017293 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU005373 http://purl.bioontology.org/ontology/OMIM/MTHU040979 See more See less
tui	T047
Gene Locus	3p24.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615550
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3809888
OMIM Entry Type	3
OMIM MimType Value	pound

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