Preferred Name

Diamond-Blackfan Anemia 9

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176918

code

C176918

DEFINITION

Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS10 gene, encoding 40S ribosomal protein S10.

FULL_SYN

DBA9

Diamond-Blackfan Anemia 9

label

Diamond-Blackfan Anemia 9

Preferred_Name

Diamond-Blackfan Anemia 9

prefixIRI

Thesaurus:C176918

prefLabel

Diamond-Blackfan Anemia 9

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177138

Semantic_Type

Disease or Syndrome

UMLS_CUI

C2750081

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61236

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http://purl.obolibrary.org/obo/DOID_0111884 Human Disease Ontology / 人类疾病本体 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