loading...| Preferred Name |
beta-thalassemia HBB/LCRB |
|
| Synonyms |
thalassemia, beta thalassemia, hispanic gamma-delta-beta beta-thalassemia |
|
| Definitions |
OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0013517 |
|
| comment |
OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). |
|
| has_exact_synonym |
thalassemia, beta thalassemia, hispanic gamma-delta-beta |
|
| has_related_synonym |
beta-thalassemia |
|
| IAO_0000233 | ||
| label |
beta-thalassemia HBB/LCRB |
|
| prefixIRI |
MONDO:0013517 |
|
| prefLabel |
beta-thalassemia HBB/LCRB |
|
| textual definition |
Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0013517 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0013517 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0013517 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0013517 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0013517 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0013517 | KTAO | LOOM |