OBO ID: DOID:0060065
Term Name: autosomal recessive pyridoxine-refractory sideroblastic anemia 2 Search Ontology:
Synonyms:
  • autosomal recessive pyridoxine-refractory sideroblastic anaemia 2
  • pyridoxine-refractory autosomal recessive sideroblastic anaemia
  • pyridoxine-refractory autosomal recessive sideroblastic anemia
Definition: A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive
References:
Ontology: Human Disease   (DOID:0060065)
OTHER autosomal recessive pyridoxine-refractory sideroblastic anemia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory 205950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None