- Brown-Vialetto-Van Laere syndrome 1 [DOID:0080785]
A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.
- 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.
- Brown-Vialetto-Van Laere syndrome 2 [DOID:0080786]
A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.