Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617409 http://purl.bioontology.org/ontology/OMIM/617409
Preferred Name	DIAMOND-BLACKFAN ANEMIA 17
Synonyms	DBA17
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DBA17
prefLabel	DIAMOND-BLACKFAN ANEMIA 17
Gene Symbol	MPS1 RPS27 DBA17
Scope Statement	Caused by mutation in the ribosomal protein S27 gene (RPS27, 603702.0001) [MOLECULAR BASIS] Based on report of 1 patient (last curated March 2017) [MISCELLANEOUS] Diagnosed at 2 months of age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000148 http://purl.bioontology.org/ontology/OMIM/MTHU002606
tui	T047
Gene Locus	1q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617409
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4479428
OMIM Entry Type	3
OMIM MimType Value	pound

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