Phenotypes associated with the disease Diamond-Blackfan anemia-like (OMIM:617911):
- Steroid-responsive anemia (HP:0033074): Amelioration of anemia upon treatment with a steroid medication. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:28283061)
- Pure red cell aplasia (HP:0012410): A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. Evidence: PCS. Frequency: 1/1. (PMID:28283061)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:28283061)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28283061)