Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	Diamond-Blackfan anemia 18
Synonyms	RPL18-related Diamond-Blackfan anemia DBA18
Definitions	A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
ID	http://purl.obolibrary.org/obo/DOID_0111896
database_cross_reference	OMIM:618310
definition	A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
has exact synonym	RPL18-related Diamond-Blackfan anemia DBA18
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111896
label	Diamond-Blackfan anemia 18
notation	DOID:0111896
prefLabel	Diamond-Blackfan anemia 18
subClassOf	http://purl.obolibrary.org/obo/DOID_1339 http://purl.obolibrary.org/obo/DOID_0050736

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/618310	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
	http://purl.obolibrary.org/obo/MONDO_0032668	Mondo Disease Ontology / Mondo疾病本体	LOOM