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Experimental Factor 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 |
|
| Definitions |
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019402 |
|
| closeMatch | ||
| 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
|
|
| definition |
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
|
|
| 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 |
|
| has_related_synonym |
thalassemia, Hispanic gamma-delta-beta thalassemia major erythroblastic anaemia Beta thalassemia minor Thalassemias, beta- erythroblastic anemia Beta thalassemia intermedia
|
|
| IAO_0000233 | ||
| id |
MONDO:0019402
|
|
| 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 |
|
| label |
beta thalassemia
|
|
| notation |
MONDO:0019402
|
|
| preferred label |
beta thalassemia
|
|
| prefLabel |
beta thalassemia
|
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0001379 |
|
| excluded_subClassOf |
| Delete | Subject | Author | Type | Created |
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