- McCune Albright syndrome [DOID:1858]
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and caf-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
- renal hypomagnesemia 3 [DOID:0060880]
A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.