Congenital Dyserythropoietic Anemia Type IV

Preferred Label : Congenital Dyserythropoietic Anemia Type IV;

NCIt synonyms : CDAN4;

NCIt definition : An autosomal dominant sub-type of congenital dyserythropoietic anemia caused by mutation(s) in the KLF1 gene, encoding Krueppel-like factor 1.;

Details

Origin ID

C157148;

UMLS CUI

C3150926;

Automatic exact mappings (from CISMeF team)
- Anemia, congenital dyserythropoietic, type iva [OMIM Phenotype]
- Congenital dyserythropoietic anemia type IV [ORDO Disease]
- Congenital dyserythropoietic anemia type IV (disorder) [SNOMED CT concept]
- congenital dyserythropoietic anemia type IV [DO Concept]
DO Cross reference
- congenital dyserythropoietic anemia type IV [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, congenital dyserythropoietic, type iva [OMIM Phenotype]
- Congenital dyserythropoietic anemia type IV [ORDO Disease]
- Congenital dyserythropoietic anemia type IV (disorder) [SNOMED CT concept]
- congenital dyserythropoietic anemia type IV [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [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
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- CDAN1 Gene [NCIt concept]
- KLF1 Gene [NCIt concept]
- SEC23B Gene [NCIt concept]

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