Diamond-Blackfan anemia-like
MONDO:0060662Mondo
Findings
No curated finding names Diamond-Blackfan anemia-like yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Pure red cell aplasiaHPOHP:0012410
- 1 of 1 reported patient
- Steroid-responsive anemiaHPOHP:0033074
- 1 of 1 reported patient · Infantile onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EPOHGNC:3415
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of