Preferred Name

hemoglobinopathy
Synonyms

hereditary persistence of fetal hemoglobin

HPFH (hereditary persistence of fetal hemoglobin)

Definitions

group of inherited disorders characterized by structural alterations within the hemoglobin molecule.

ID

http://purl.bioontology.org/ontology/CSP/1418-5657

altLabel

hereditary persistence of fetal hemoglobin

HPFH (hereditary persistence of fetal hemoglobin)

cui

C0019045

C0019025

definition

group of inherited disorders characterized by structural alterations within the hemoglobin molecule.

DID

1418-5657

Inverse of RB

http://purl.bioontology.org/ontology/CSP/0449-0541

http://purl.bioontology.org/ontology/CSP/1254-7727

Inverse of RN

http://purl.bioontology.org/ontology/CSP/1418-5709

http://purl.bioontology.org/ontology/CSP/1418-5761

Inverse of RO

http://purl.bioontology.org/ontology/CSP/0450-1958

notation

1418-5657

prefLabel

hemoglobinopathy

tui

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/0449-0541

http://purl.bioontology.org/ontology/CSP/1254-7727

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP31618-9 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10018905 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10018902 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10018903 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001472 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10055610 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D006453 MESH CUI
http://purl.bioontology.org/ontology/CST/HAL/RBC/HGB COSTART CUI
http://purl.bioontology.org/ontology/RCD/X20Ci RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D006453 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10018903 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10018905 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/80141007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/DC-20000 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10060892 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/80141007 SCTSPA CUI
http://purl.bioontology.org/ontology/CST/HEMRBCDIS COSTART CUI
http://purl.bioontology.org/ontology/MDRFRE/10060892 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10018902 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10018903 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA16207-5 LOINC CUI
http://purl.bioontology.org/ontology/ICD10CM/D58.2 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10060892 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10055610 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10055610 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/MTHU029621 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10018902 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10018905 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D017086 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/191201002 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/D56.4 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10086664 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10086681 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D017086 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10086664 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/142200 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10086681 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10086664 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/141900 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/191201002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10086681 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/142250 OMIM CUI
http://purl.bioontology.org/ontology/ICD10/D56.4 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/D1071 RCD CUI
http://purl.obolibrary.org/obo/MONDO_0044348 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019045 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C3092 BERO LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_bf38d63d_72d6_4d9b_8e1a_090467cf5132 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_bf38d63d_72d6_4d9b_8e1a_090467cf5132 CVAO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/80141007 SNOMEDCT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hemoglobinopathy PEDTERM LOOM
http://www.orpha.net/ORDO/Orphanet_68364 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3092 NCIT LOOM
http://pat.nichd.nih.gov/maternalconditions/C0019045 PATMHC LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 GENEPIO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 OBA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemoglobinopathy CSEO LOOM
http://purl.obolibrary.org/obo/SCDO_0000552 SCDO LOOM
http://purl.obolibrary.org/obo/DOID_2860 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2860 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2860 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2860 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2860 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2860 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2860 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2860 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055610 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2860 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10503 HRDO LOOM