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Experimental Factor Ontology
Preferred Name | delta-beta-thalassemia | |
Synonyms |
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Definitions |
Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0016489 |
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closeMatch | ||
database_cross_reference |
UMLS:C0271985 ICD9:282.49 MESH:C562716 ICD10CM:D56.2 MedDRA:10012236 MEDGEN:78790 NCIT:C172823 Orphanet:231237 SCTID:16360009 DOID:0080773 GARD:17165
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definition |
Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
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exactMatch |
http://identifiers.org/snomedct/16360009 http://identifiers.org/medgen/78790 http://purl.obolibrary.org/obo/DOID_0080773 http://purl.obolibrary.org/obo/NCIT_C172823 http://purl.obolibrary.org/obo/Orphanet_231237 http://purl.bioontology.org/ontology/ICD10CM/D56.2 |
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id |
MONDO:0016489
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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label |
delta-beta-thalassemia
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notation |
MONDO:0016489
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preferred label |
delta-beta-thalassemia
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prefLabel |
delta-beta-thalassemia
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subClassOf |
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