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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | Diamond-Blackfan anemia | |
| Synonyms |
chronic constitutional pure red cell anaemia Blackfan - Diamond syndrome |
|
| Definitions |
A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1339 |
|
| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
chronic constitutional pure red cell anaemia Blackfan - Diamond syndrome
|
|
| database_cross_reference |
MIM:PS105650 MESH:D029503 ICD10CM:D61.01 GARD:6274 NCI:C61236 ORDO:124
|
|
| definition |
A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| has exact synonym |
chronic constitutional pure red cell anaemia Blackfan - Diamond syndrome
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:1339
|
|
| in_subset | ||
| label |
Diamond-Blackfan anemia
|
|
| notation |
DOID:1339
|
|
| note |
A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
Diamond-Blackfan anemia
|
|
| prefLabel |
Diamond-Blackfan anemia
|
|
| subClassOf |
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