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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_1339
http://purl.obolibrary.org/obo/DOID_1339
|
|---|---|
| Preferred Name | Diamond-Blackfan anemia |
| 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].
|
| Synonyms |
chronic constitutional pure red cell anaemia
Blackfan - Diamond syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Diamond-Blackfan anemia
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Diamond-Blackfan anemia
|
| database_cross_reference |
MIM:PS105650
MESH:D029503
ICD10CM:D61.01
GARD:6274
NCI:C61236
ORDO:124
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|
| notation |
DOID:1339
|
| in_subset | |
| id |
DOID:1339
|
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym |
chronic constitutional pure red cell anaemia
Blackfan - Diamond syndrome
|
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