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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Beta Thalassemia | |
| Synonyms |
|
|
| Definitions |
An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C34375 |
|
| ALT_DEFINITION |
An autosomal recessive disorder that affects the production of beta polypeptide chains that are necessary for hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
|
|
| code |
C34375
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|
| Contributing_Source |
Cellosaurus CTRP NICHD
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|
| definition |
An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
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| Display_Name |
Thalassemia Major
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|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C132009 |
|
| label |
Beta Thalassemia
|
|
| Legacy Concept Name |
Thalassemia_Major
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|
| Preferred_Name |
Beta Thalassemia
|
|
| prefixIRI |
NCIT:C34375
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|
| prefLabel |
Beta Thalassemia
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|
| Semantic_Type |
Disease or Syndrome
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|
| UMLS_CUI |
C0002875
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|
| subClassOf |
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