Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Diamond-Blackfan anemia 9

Synonyms

DBA9

RPS10-related Diamond-Blackfan anemia

Definitions

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31.

ID

http://purl.obolibrary.org/obo/DOID_0111884

database_cross_reference

MESH:C567650

OMIM:613308

definition

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31.

has exact synonym

DBA9

RPS10-related Diamond-Blackfan anemia

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0111884

label

Diamond-Blackfan anemia 9

notation

DOID:0111884

prefLabel

Diamond-Blackfan anemia 9

subClassOf

http://purl.obolibrary.org/obo/DOID_1339

http://purl.obolibrary.org/obo/DOID_0050736

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176918 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0013216 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/613308 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C567650 Medical Subject Headings / 医学主题词表 LOOM