Diamond-Blackfan Anemia 1

Preferred Label : Diamond-Blackfan Anemia 1;

NCIt synonyms : DBA1;

NCIt definition : Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS19 gene, encoding 40S ribosomal protein S19.;

Details

Origin ID

C176911;

UMLS CUI

C2676137;

Currated CISMeF NLP mapping
- Blackfan-Diamond disease [PASCAL descriptor]
- Diamond-Blackfan anemia 1 [MeSH concept]
- Diamond-Blackfan anemia 1 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 1 [DO Concept]
- Diamond-blackfan anemia 1 [OMIM Phenotype]
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)
- Diamond-Blackfan anemia 1 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 1 [MeSH concept]
- Diamond-blackfan anemia 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Blackfan-Diamond anaemia [ICD-11 More detail]
- Blackfan-Diamond anemia [ORDO Disease]
- Congenital hypoplastic anemia (disorder) [SNOMED CT concept]
- Diamond Blackfan anemia [Disease (Nov.)]
- Diamond-Blackfan anaemia [MedDRA LLT]
- Diamond-Blackfan anemia [MedDRA LLT]
- anemia, Diamond-Blackfan [MeSH concept]
- anemia, diamond-blackfan [MeSH Descriptor]
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
- RPS19 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
- RPS19 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- RPS19 Gene [NCIt concept]
- RPS19 wt Allele [NCIt concept]
related_to_genetic_biomarker
- RPS19 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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