Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
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Preferred Name

Hemoglobin C Disease
Synonyms

Haemoglobin C Disease

Hb C-Disease
Definitions

An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.
ID

http://purl.obolibrary.org/obo/SCDO_0000519
curator note

Suggest update to description in NCIT
database cross reference

NCIT:C34675
definition

An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.
definition source

http://purl.obolibrary.org/obo/NCIT_C34675

http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-C
diagnosed using tool

http://purl.obolibrary.org/obo/NCIT_C79903

http://purl.obolibrary.org/obo/CHMO_0001009

http://purl.obolibrary.org/obo/CMO_0000364

http://purl.obolibrary.org/obo/SCDO_0000424
existence in other ontologies

Suggest update to description
has causal or contributing genetic variation

http://purl.obolibrary.org/obo/SCDO_1000041
has manifestation

http://purl.obolibrary.org/obo/HP_0001878

http://purl.obolibrary.org/obo/HP_0001744
has mode of inheritance

http://purl.obolibrary.org/obo/SCDO_1000242
hasExactSynonym

Haemoglobin C Disease

Hb C-Disease
prefixIRI

SCDO:0000519
prefLabel

Hemoglobin C Disease
rdfs:label

Hemoglobin C Disease
treated with

http://purl.obolibrary.org/obo/SCDO_0000580

http://purl.obolibrary.org/obo/SCDO_0001329

http://purl.obolibrary.org/obo/SCDO_0000506

http://purl.obolibrary.org/obo/SCDO_0000147
subClassOf

http://purl.obolibrary.org/obo/SCDO_0008262
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016242 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2859 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200635 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016242 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/51053007 SNOMEDCT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hemoglobin_C_Disease PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34675 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055596 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.070.490 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2859 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3653 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.420.463 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemoglobin_C_Disease CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006445 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036565 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_2859 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2859 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2859 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2859 FNS-H LOOM
http://www.gamuts.net/entity#hemoglobin_C_disease GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0016242 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.365.463 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D006445 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C34675 BERO LOOM
http://purl.jp/bio/4/id/200906084448395435 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_2132 ORDO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-20100 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.071.141.150.490 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0007614 OMIT LOOM
http://id.nlm.nih.gov/mesh/D006445 MDM LOOM