Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Diamond-Blackfan anemia 16

Synonyms

DBA16

RPL27-related Diamond-Blackfan anemia

Definitions

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31.

ID

http://purl.obolibrary.org/obo/DOID_0111893

database_cross_reference

OMIM:617408

definition

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31.

has exact synonym

DBA16

RPL27-related Diamond-Blackfan anemia

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0111893

label

Diamond-Blackfan anemia 16

notation

DOID:0111893

prefLabel

Diamond-Blackfan anemia 16

subClassOf

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

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0044309 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/617408 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM