Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Hemoglobin C disease

Synonyms
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://www.orpha.net/ORDO/Orphanet_2132

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).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

hasDbXref

ICD-10:D58.2

MeSH:D006445

MedDRA:10018883

UMLS:C0019021

ICD-11:3A51.5

label

Hemoglobin C disease

notation

ORPHA:2132

part_of

http://www.orpha.net/ORDO/Orphanet_466066

http://www.orpha.net/ORDO/Orphanet_68364

prefixIRI

ORDO:Orphanet_2132

prefLabel

Hemoglobin C disease

present_in

Belgium AND has_birth_prevalence_average_value : 3.65 AND has_birth_prevalence_range : 1-9 / 100 000

United States AND has_point_prevalence_average_value : 166.66 AND has_point_prevalence_range : >1 / 1000

treeView

http://www.orpha.net/ORDO/Orphanet_466066

http://www.orpha.net/ORDO/Orphanet_68364

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_2132 EFO 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.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://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
http://www.gamuts.net/entity#hemoglobin_C_disease GAMUTS REST