Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C567302 http://purl.bioontology.org/ontology/MESH/C567302
Preferred Name	Diamond-Blackfan Anemia 1
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Diamond-Blackfan Anemia 1
Scope Statement	A type of Diamond-Blackfan Anemia. Patients may also have craniofacial, skeletal, and cardiovascular abnormalities. It is caused by mutations in the ribosomal protein S19 (RPS19) gene. OMIM: 105650
type	http://www.w3.org/2002/07/owl#Class
tui	T047
HM	D029503
SC	3
TERMUI	T810142
TH	OMIM (2013)
MMR	20160929
notation	C567302
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C2676137
MeSH Frequency	11
DSC	20121105
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D029503
MDA	20121105

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