Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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Preferred Name

Diamond-Blackfan Anemia 1
ID

http://purl.bioontology.org/ontology/MESH/C567302
cui

C2676137
HM

D029503
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D029503
MDA

20121105
MeSH Frequency

11
MMR

20160929
notation

C567302
prefLabel

Diamond-Blackfan Anemia 1
SC

3
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
TERMUI

T810142
TH

OMIM (2013)
tui

T047
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176911 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/DOID_0111895 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/603474 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/MONDO_0007110 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/105650 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/105650 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM