loading...| Preferred Name |
Diamond-Blackfan anemia |
|
| Synonyms |
chronic constitutional pure red cell anaemia |
|
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A congenital hypoplastic anemia 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1339 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MESH:D029503 OMIM:PS105650 SNOMEDCT_US_2020_03_01:188588001 ICD10CM:D61.01 GARD:6274 NCI:C61236 ORDO:124 |
|
| has exact synonym |
chronic constitutional pure red cell anaemia Blackfan - Diamond syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:1339 |
|
| imported from | ||
| in_subset | ||
| label |
Diamond-Blackfan anemia |
|
| notation |
DOID:1339 |
|
| prefLabel |
Diamond-Blackfan anemia |
|
| textual definition |
A congenital hypoplastic anemia 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. |
|
| subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.