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Preferred Name

SICKLE CELL ANEMIA
ID

http://purl.bioontology.org/ontology/OMIM/603903
cui

C0002895
Gene Locus

11p15.5
Gene Symbol

HBB

ECYT6
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000211

http://purl.bioontology.org/ontology/OMIM/MTHU054349

http://purl.bioontology.org/ontology/OMIM/MTHU054353

http://purl.bioontology.org/ontology/OMIM/MTHU054347

http://purl.bioontology.org/ontology/OMIM/MTHU054345

http://purl.bioontology.org/ontology/OMIM/MTHU054350

http://purl.bioontology.org/ontology/OMIM/MTHU054351

http://purl.bioontology.org/ontology/OMIM/MTHU002225

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU054344

http://purl.bioontology.org/ontology/OMIM/MTHU054346

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU054354

http://purl.bioontology.org/ontology/OMIM/MTHU054348

http://purl.bioontology.org/ontology/OMIM/MTHU054352

http://purl.bioontology.org/ontology/OMIM/MTHU038721

http://purl.bioontology.org/ontology/OMIM/MTHU025035

http://purl.bioontology.org/ontology/OMIM/MTHU009877

http://purl.bioontology.org/ontology/OMIM/MTHU045284

http://purl.bioontology.org/ontology/OMIM/MTHU026164
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

603903
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SICKLE CELL ANEMIA
Scope Statement

Presence of comorbid alpha-thalassemia may have beneficial effects [MISCELLANEOUS]

Persistence of fetal hemoglobin can ameliorate many disease aspects [MISCELLANEOUS]

Caused by mutation in the hemoglobin beta gene (HBB, 141900.0243) [MOLECULAR BASIS]
tui

T047
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http://purl.bioontology.org/ontology/LNC/LP56775-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LP56775-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/D57 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D000755 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 GenEpiO / 基因组流行病学本体 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021603 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/MTHU021603 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/DOID_10923 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_10923 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/D57.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/D57 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://www.orpha.net/ORDO/Orphanet_232 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/ICD10/D57 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI