Autosomal recessive intermediate Charcot–Marie–Tooth disease is a hereditary nerve disorder that weakens the peripheral nerves—the long nerves that carry ...

Infantile-onset hypercalcemia is a rare condition where babies and young children have too much calcium in the blood. The two main genetic causes are changes ...

Hypercalcemia means there is too much calcium in the blood. In infants, this is dangerous because small bodies cannot handle high calcium well. Calcium helps ...

Familial infantile hypercalcemia (FIH) is a rare, inherited problem where a baby or young child has too much calcium in the blood (hypercalcemia) even though ...

Autosomal recessive infantile hypercalcemia is a rare genetic disease that makes blood calcium high in babies and sometimes in older children or adults. Two ...

Hypophosphatemic rickets is a bone disease where the body loses too much phosphate in the urine. Phosphate is a mineral your bones need to harden and stay ...

Autosomal recessive hereditary hypophosphatemic rickets (ARHR) is a rare, inherited bone disease. In this condition, the kidneys lose too much phosphate in the ...

Autosomal recessive hypophosphatemic vitamin-D-refractory rickets (ARHR) is a rare inherited bone disease. It lowers the blood level of phosphate, a mineral ...

Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, inherited bone and kidney disorder. The kidneys spill too much phosphate into urine (phosphate ...

Hypercalciuric hypophosphatemic rickets (HHRH) is a rare inherited disorder where the kidneys lose too much phosphate in the urine. Low blood phosphate makes ...

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, inherited condition that makes the kidneys lose too much phosphate in the urine. ...

Autosomal recessive hypophosphatemic bone disease is a group of rare genetic conditions where both copies of a key gene are altered (one from each parent). ...

Hypohidrotic autosomal recessive ectodermal dysplasia (AR-HED) is a group of genetic conditions where parts of the body that come from the “ectoderm” ...

Autosomal recessive anhidrotic/hypohidrotic ectodermal dysplasia (ARHED) is a rare inherited condition where parts of the body that come from the outer layer ...

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome is a rare inherited condition that affects structures that grow from the outer layer of the ...

Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition that starts at birth or soon after. The pancreas makes too much insulin ...

ABCC8-related congenital hyperinsulinism is a genetic condition where the pancreas makes too much insulin even when blood sugar is low. The extra insulin ...

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency is a rare, inherited condition in which a baby or child has too much insulin in the ...

Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition in which the pancreas makes too much insulin even when blood sugar is ...

Autosomal-recessive hyperinsulinemic hypoglycemia from Kir6.2 (KCNJ11) deficiency is a rare genetic disorder where the beta-cells of the pancreas release too ...