Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613308 http://purl.bioontology.org/ontology/OMIM/613308
Preferred Name	DIAMOND-BLACKFAN ANEMIA 9
Synonyms	DBA9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DBA9
prefLabel	DIAMOND-BLACKFAN ANEMIA 9
Gene Symbol	DBA9 RPS10
Scope Statement	Age at diagnosis ranged from birth to 12 years [MISCELLANEOUS] Some patients are steroid responsive [MISCELLANEOUS] Limited clinical information provided [MISCELLANEOUS] Caused by mutation in ribosomal protein S10 (RPS10, 603632.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037303 http://purl.bioontology.org/ontology/OMIM/MTHU036403 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU054727 http://purl.bioontology.org/ontology/OMIM/MTHU002606
tui	T047
Gene Locus	6p
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613308
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2750081
OMIM Entry Type	3
OMIM MimType Value	pound

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