Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

sickle cell anemia

Synonyms

hemoglobin SC disease

Definitions

A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. OMIM mapping confirmed by DO. [LS].

ID

http://purl.obolibrary.org/obo/DOID_10923

comment

OMIM mapping confirmed by DO. [LS].

database_cross_reference

NCI:C34383

ICD10CM:D57.1

ICD9CM:282.6

ICD10CM:D57.2

UMLS_CUI:C0019034

SNOMEDCT_US_2022_09_01:35434009

ICD9CM:282.63

NCI:C34676

ORDO:232

SNOMEDCT_US_2022_09_01:154798006

MESH:D006450

UMLS_CUI:C0002895

MESH:D000755

OMIM:603903

GARD:8614

definition

A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

has exact synonym

hemoglobin SC disease

drepanocytosis

Hb SC disease

Hb-S/Hb-C disease

haemoglobin SC disease

Hemoglobin S disease without crisis

sickle cell anaemia

Sickle-cell/Hb-C disease without crisis

Hb-SS disease without crisis

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_alternative_id

DOID:12924

DOID:13024

has_obo_namespace

disease_ontology

id

DOID:10923

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

sickle cell anemia

notation

DOID:10923

prefLabel

sickle cell anemia

subClassOf

http://purl.obolibrary.org/obo/DOID_620

http://purl.obolibrary.org/obo/DOID_0050737

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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 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU054349 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
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 LOOM
http://purl.bioontology.org/ontology/OMIM/603903 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 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 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 Ontology of Drug Adverse Events / 药物不良反应本体 LOOM
http://purl.obolibrary.org/obo/DOID_10923 Ontology of Drug Adverse Events / 药物不良反应本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_232 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM