Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

SICKLE CELL DISEASE
Synonyms

SICKLE CELL ANEMIA
ID

http://purl.bioontology.org/ontology/OMIM/603903
altLabel

SICKLE CELL ANEMIA
cui

C0002895
Gene Locus

11p15.5
Gene Symbol

ECYT6

HBB
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU054348

http://purl.bioontology.org/ontology/OMIM/MTHU025035

http://purl.bioontology.org/ontology/OMIM/MTHU002225

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU038721

http://purl.bioontology.org/ontology/OMIM/MTHU054350

http://purl.bioontology.org/ontology/OMIM/MTHU054353

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU026164

http://purl.bioontology.org/ontology/OMIM/MTHU054352

http://purl.bioontology.org/ontology/OMIM/MTHU009877

http://purl.bioontology.org/ontology/OMIM/MTHU045284

http://purl.bioontology.org/ontology/OMIM/MTHU054347

http://purl.bioontology.org/ontology/OMIM/MTHU054344

http://purl.bioontology.org/ontology/OMIM/MTHU054349

http://purl.bioontology.org/ontology/OMIM/MTHU054346

http://purl.bioontology.org/ontology/OMIM/MTHU054354

http://purl.bioontology.org/ontology/OMIM/MTHU000211

http://purl.bioontology.org/ontology/OMIM/MTHU054345

http://purl.bioontology.org/ontology/OMIM/MTHU054351
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

603903
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SICKLE CELL DISEASE
Scope Statement

Presence of comorbid alpha-thalassemia may have beneficial effects [MISCELLANEOUS]

Caused by mutation in the hemoglobin beta gene (HBB, 141900.0243) [MOLECULAR BASIS]

Persistence of fetal hemoglobin can ameliorate many disease aspects [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10054629 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10054629 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X20Cw RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10040654 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10055741 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10002077 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/D57.1 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD9CM/282.6 ICD9CM CUI
http://purl.bioontology.org/ontology/CSP/1418-5709 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D000755 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10040654 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10040653 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10040652 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10002077 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10002077 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10040653 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10040641 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10040644 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10040645 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10055200 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/127040003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/LNC/MTHU021603 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10055200 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LP56775-7 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10055741 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10040646 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/D57 ICD10 CUI
http://purl.bioontology.org/ontology/ICPC2P/B78002 ICPC2P CUI
http://purl.bioontology.org/ontology/MEDDRA/10040652 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRGER/10040646 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/417357006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000755 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10055741 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/D106. RCD CUI
http://purl.bioontology.org/ontology/ICD9CM/282.60 ICD9CM CUI
http://purl.bioontology.org/ontology/SCTSPA/127040003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/DC-20020 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000399 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10040644 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10040645 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10054629 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10040645 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10040641 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10040646 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10040654 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10055200 MDRFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000555364 PDQ CUI
http://purl.bioontology.org/ontology/SCTSPA/417357006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10040652 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10040641 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10040653 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/D57 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10040644 MDRGER CUI
http://purl.obolibrary.org/obo/NCIT_C34383 BERO LOOM
http://www.co-ode.org/ontologies/galen#SickleCellDisease GALEN LOOM
http://purl.obolibrary.org/obo/SCDO_1000106 SCDO LOOM
http://pat.nichd.nih.gov/maternalconditions/C0002895 PATMHC LOOM
http://purl.bioontology.org/ontology/ICD9CM/282.6 ICD9CM LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_25e9091d_53fa_41d8_b73c_b38336bcf857 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_25e9091d_53fa_41d8_b73c_b38336bcf857 CVAO LOOM
http://localhost/plosthes.2017-1#6908 PLOSTHES LOOM
http://purl.bioontology.org/ontology/phenX/800000 PHENX LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859154 ACVD_ONTOLOGY LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sickle_Cell_Disease CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34383 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10040644 MEDDRA LOOM
http://purl.obolibrary.org/obo/HIO_0000294 HIO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Sickle_Cell_Disease APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Sickle_Cell_Disease APAONTO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Sickle_Cell_Disease PEDTERM LOOM
http://www.gamuts.net/entity#sickle_cell_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000555364 PDQ LOOM