Mondo Disease Ontology

Last uploaded: May 9, 2024

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Preferred Name	hemoglobin C disease
Synonyms	Hb-C disease Hb C disease
Definitions	Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
ID	http://purl.obolibrary.org/obo/MONDO_0016242
closeMatch	http://identifiers.org/meddra/10018883
database_cross_reference	MESH:D006445 GARD:2640 UMLS:C0019021 MESH:C531699 DOID:2859 SCTID:51053007 NCIT:C34675 Orphanet:2132 MedDRA:10018883 ICD9:282.7
definition	Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
exactMatch	http://purl.obolibrary.org/obo/DOID_2859 http://purl.obolibrary.org/obo/Orphanet_2132 http://purl.obolibrary.org/obo/NCIT_C34675 http://identifiers.org/mesh/D006445 http://identifiers.org/snomedct/51053007 http://linkedlifedata.com/resource/umls/id/C0019021 http://identifiers.org/mesh/C531699
has_exact_synonym	Hb-C disease
has_related_synonym	Hb C disease
id	MONDO:0016242
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
label	hemoglobin C disease
notation	MONDO:0016242
prefLabel	hemoglobin C disease
seeAlso	https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease
treeView	http://purl.obolibrary.org/obo/MONDO_0019050 http://purl.obolibrary.org/obo/MONDO_0002280
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019050 http://purl.obolibrary.org/obo/MONDO_0002280

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0016242	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016242	DOVES	SAME_URI
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.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.obolibrary.org/obo/SCDO_0000519	SCDO	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