Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

sickle cell anemia
Synonyms

Hemoglobin S disease

restriction fragment length polymorphism, sickle cell Anemia-related

HbS disease

Haemoglobin S disease

HPA 1 recognition polymorphism, beta-globin-related

HPA1

Hb-SS disease without crisis

Hb SC disease

sickling disorder due to Haemoglobin S

drepanocytosis

Haemoglobin S disease without crisis

sickle-cell/Hb-C disease without crisis

hemoglobin SC disease

sickle cell anemia

Hemoglobin S disease without crisis

sickling disorder due to Hemoglobin S

Hb-S/Hb-C disease

sickle cell disease

haemoglobin SC disease

Sickle Cell Disease

Definitions

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

ID

http://purl.obolibrary.org/obo/MONDO_0011382

closeMatch

http://identifiers.org/meddra/10040641

database_cross_reference

Orphanet:232

MESH:D000755

NANDO:2200624

DOID:0081445

UMLS:C0002895

ICD9:282.63

ICD9:282.60

OMIM:603903

NCIT:C34383

MedDRA:10040641

DOID:10923

GARD:8614

ICD9:282.6

MEDGEN:287

NORD:1714

definition

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0002895

http://purl.obolibrary.org/obo/NCIT_C34383

http://identifiers.org/mesh/D000755

http://identifiers.org/medgen/287

https://omim.org/entry/603903

http://purl.obolibrary.org/obo/Orphanet_232

http://purl.obolibrary.org/obo/DOID_0081445

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

has_exact_synonym

Hb-SS disease without crisis

Hb SC disease

sickling disorder due to Haemoglobin S

drepanocytosis

Haemoglobin S disease without crisis

sickle-cell/Hb-C disease without crisis

hemoglobin SC disease

sickle cell anemia

Hemoglobin S disease without crisis

sickling disorder due to Hemoglobin S

Hb-S/Hb-C disease

sickle cell disease

haemoglobin SC disease

Sickle Cell Disease

has_related_synonym

Hemoglobin S disease

restriction fragment length polymorphism, sickle cell Anemia-related

HbS disease

Haemoglobin S disease

HPA 1 recognition polymorphism, beta-globin-related

HPA1

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/7391

id

MONDO:0011382

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

sickle cell anemia

notation

MONDO:0011382

preferred label

sickle cell anemia

prefLabel

sickle cell anemia

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019050

http://www.ebi.ac.uk/efo/EFO_1000017

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0018384

http://purl.obolibrary.org/obo/MONDO_0018374

http://purl.obolibrary.org/obo/MONDO_0015770

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0011382 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011382 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011382 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011382 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011382 GENEPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 MONDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10054629 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15050 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 GENEPIO LOOM
http://purl.bioontology.org/ontology/CSP/1418-5709 CRISP LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#sickle_cell_anemia NRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10040653 MEDDRA LOOM
http://www.projecthalo.com/aura#Sickle-Cell-Anemia AURA LOOM
http://purl.obolibrary.org/obo/OMIM_603903 CCO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002895 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021603 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LP56775-7 LOINC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_125 HRDO LOOM
http://www.radlex.org/RID/RID34676 RADLEX LOOM
http://www.orpha.net/ORDO/Orphanet_232 ORDO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895 MEDLINEPLUS LOOM
http://identifiers.org/omim/603903 REXO LOOM
http://identifiers.org/omim/603903 GEXO LOOM
http://identifiers.org/omim/603903 RETO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU054349 OMIM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10923 NATPRO LOOM
http://purl.jp/bio/4/id/kb0000001756 IOBC LOOM
http://www.ebi.ac.uk/efo/EFO_0000697 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10923 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_10923 CHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10923 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10923 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10923 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10923 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10923 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_10923 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10923 FNS-H LOOM