- juvenile rheumatoid arthritis [DOID:676]
A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
- hypomyelinating leukodystrophy 20 [DOID:0112153]
A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.
- hemoglobin H disease [DOID:0110031]
An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.
- core binding factor acute myeloid leukemia [DOID:0080796]
An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
- apparent mineralocorticoid excess syndrome [DOID:4367]
A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
- chromosome 16p11.2 deletion syndrome [DOID:0060398]
A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.