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Cell Culture Ontology
Preferred Name | beta thalassemia | |
Synonyms |
thalassemia, Hispanic gamma-delta-beta thalassemia major erythroblastic anaemia Beta thalassemia minor Thalassemias, beta- erythroblastic anemia Beta thalassemia intermedia |
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Definitions |
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). |
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ID |
http://purl.obolibrary.org/obo/MONDO_0019402 |
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database_cross_reference |
SCTID:65959000 ICD9:282.49 ICD9:282.44 icd11.foundation:2063292324 MESH:D017086 NCIT:C34375 NANDO:2201274 Orphanet:848 MedDRA:10043391 UMLS:C0005283 MEDGEN:2611 DOID:12241 GARD:871 NORD:1765
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definition |
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
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has_related_synonym |
thalassemia, Hispanic gamma-delta-beta thalassemia major erythroblastic anaemia Beta thalassemia minor Thalassemias, beta- erythroblastic anemia Beta thalassemia intermedia
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IAO_0000233 | ||
id |
MONDO:0019402
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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 |
beta thalassemia
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notation |
MONDO:0019402
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preferred label |
beta thalassemia
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prefLabel |
beta thalassemia
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skos_closeMatch | ||
skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_12241 http://purl.obolibrary.org/obo/Orphanet_848 http://identifiers.org/medgen/2611 http://identifiers.org/mesh/D017086 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2063292324 http://purl.obolibrary.org/obo/NCIT_C34375 |
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subClassOf |
http://www.ebi.ac.uk/efo/EFO_0001379 |
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excluded_subClassOf |
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