Rx Endocrinology, Enzymes and Hormonal Diseases (A – Z)
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Choreoathetosis with Congenital Hypothyroidism and Neonatal Respiratory Distress Syndrome (NKX2-1)
Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Choreoathetosis and Congenital Hypothyroidism with Pulmonary Dysfunction
Choreoathetosis and congenital hypothyroidism with pulmonary dysfunction also call it ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Brain-Lung-Thyroid Syndrome
Brain-Lung-Thyroid syndrome is a rare genetic condition that can affect the brain ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Bangstad Syndrome
Bangstad syndrome is a very rare inherited disorder. It affects growth, movement, ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Ataxia–Diabetes–Goiter–Gonadal Insufficiency Syndrome
Ataxia–diabetes–goiter–gonadal insufficiency syndrome—better known as Bangstad ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Hypothyroidism and Cleft Palate Syndrome
Hypothyroidism and cleft palate syndrome is a rare genetic condition in which a baby is ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate
This condition is a genetic syndrome. Babies are born without a thyroid gland or with a ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Familial Infantile Hypercalcemia with Suppressed Intact Parathyroid Hormone (PTH)
Familial infantile hypercalcemia (FIH) is a rare, inherited problem where a baby or young ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Autosomal Recessive Hyperinsulinism Due to Sulfonylurea Receptor-1 (SUR1) Deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
ABCC8-Related Congenital Hyperinsulinism
ABCC8-related congenital hyperinsulinism is a genetic condition where the pancreas makes ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Autosomal Recessive Hyperinsulinism Due to SUR1 (ABCC8) Deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition in ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Autosomal-Recessive Hyperinsulinemic Hypoglycemia From Kir6.2 (KCNJ11) Deficiency
Autosomal-recessive hyperinsulinemic hypoglycemia from Kir6.2 (KCNJ11) deficiency is a ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
KCNJ11-Related Congenital Hyperinsulinism
KCNJ11-related congenital hyperinsulinism is a rare condition where a baby’s pancreas ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Pseudohypoaldosteronism (PHA)
Pseudohypoaldosteronism (PHA) is a group of rare conditions where the body makes ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Autosomal Dominant Idiopathic Growth Hormone Deficiency Type II (IGHD-II)
IGHD-II is a rare, inherited form of growth hormone (GH) deficiency. “Autosomal dominant” ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Autosomal Dominant Pituitary Dwarfism due to Isolated Growth Hormone Deficiency (IGHD, Type II)
Autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency (IGHD ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Autosomal Dominant Isolated Somatotropin (Growth Hormone) Deficiency (IGHD Type II)
Autosomal dominant isolated somatotropin deficiency—often called isolated growth hormone ...
Rx Endocrinology, Enzymes and Hormonal Diseases (A - Z)
Autosomal Dominant Hyperinsulinism due to Kir6.2 (KCNJ11) Deficiency
Autosomal dominant hyperinsulinism from KCNJ11 (Kir6.2) loss-of-function means the ...
