Phenotypes associated with the disease Immunoerythromyeloid hypoplasia (OMIM:242880):
- Absent leukocyte alkaline phosphatase (HP:0008161): Alkaline phosphatase levels measured within leukocytes is below detectable levels. Evidence: IEA. (OMIM:242880)
- Lymphoproliferative disorder (HP:0005523). Evidence: IEA. (OMIM:242880)
- Erythroid hypoplasia (HP:0012133): Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: TAS. (OMIM:242880)
- 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: IEA. (OMIM:242880)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: IEA. (OMIM:242880)