Diamond-Blackfan Anemia 3

Preferred Label : Diamond-Blackfan Anemia 3;

NCIt synonyms : DBA3;

NCIt definition : Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS24 gene, encoding 40S ribosomal protein S24.;

Details

Origin ID

C176912;

UMLS CUI

C1857719;

Currated CISMeF NLP mapping
- Anemia, Diamond-Blackfan, 3 [MeSH concept]
- Diamond-blackfan anemia 3 [OMIM Phenotype]
- Diamond-blackfan anemia 3 [DO Concept]
- anemia, Diamond-Blackfan, 3 [MeSH Supplementary Concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, Diamond-Blackfan, 3 [MeSH concept]
- Diamond-blackfan anemia 3 [OMIM Phenotype]
- anemia, Diamond-Blackfan, 3 [MeSH Supplementary Concept]
disease_has_finding
- Bone Marrow Failure [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Marked Reduction or Absence of Erythroid Precursors in the Bone Marrow [NCIt concept]
- Reticulocytopenia [NCIt concept]
disease_has_molecular_abnormality
- RPS24 Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- RPS24 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- RPS24 Gene [NCIt concept]
- RPS24 wt Allele [NCIt concept]
related_to_genetic_biomarker
- RPS24 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients