- Bryant-Li-Bhoj neurodevelopmental syndrome 1 [DOID:0051011]
A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.
- Bryant-Li-Bhoj neurodevelopmental syndrome 2 [DOID:0051012]
A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25.
- vitamin D-dependent rickets type 2B [DOID:0080885]
A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.
- vitamin D-dependent rickets type 2A [DOID:0080884]
A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.
- hypervitaminosis D [DOID:9971]
An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D.