Familial episodic pain syndrome with predominantly lower limb involvement is a rare inherited condition characterized primarily by episodes of intense...

Familial episodic pain syndrome with predominantly upper body involvement is a very rare condition characterized by intermittent episodes of pain, wit...

Familial expansile osteolysis is a bone disorder in which abnormal bone resorption leads to osteolysis and often results in conductive hearing impairm...

Familial flecked retinopathy is an inherited condition that affects the retina, leading to distinctive fleck-like changes that may impact vision. The...

Familial focal alopecia is an inherited condition characterized by patchy hair loss affecting localized areas of the scalp. Although the precise biolo...

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder that affects brain function by causing focal seizures originating from...

Familial gastric type 1 neuroendocrine tumor is a condition that involves tumors arising in the stomach with a familial clustering, suggesting a poten...

Familial generalized lentiginosis is a rare inherited skin disorder characterized by the development of numerous lentigines, which are small, brown to...

Familial gestational hyperthyroidism is a genetic condition affecting thyroid function within the endocrine system. It is caused by an activating defe...

Familial glucocorticoid deficiency is a group of primary adrenal insufficiencies in which the adrenal glands fail to produce adequate levels of cortis...

Familial hemiplegic migraine is a migraine disorder characterized by episodes of aura that may include motor weakness. It is a condition with a clear...

Familial hemolytic anemia is a congenital condition that affects red blood cells, leading to their premature destruction. It arises from defects in th...

Familial hemophagocytic lymphohistiocytosis 2 is a severe immune dysregulation disorder that results from pathogenic variants in the PRF1 gene. This c...

Familial hemophagocytic lymphohistiocytosis 3 (FHL3) is a severe immune dysregulation disorder that primarily affects infants and children. It is caus...

Familial hemophagocytic lymphohistiocytosis 4 is an inherited immune dysregulation disorder that arises from mutations in the STX11 gene. This conditi...

Familial hemophagocytic lymphohistiocytosis 5 is a severe, genetically determined disorder classified within the spectrum of hemophagocytic lymphohist...

Familial hemophagocytic lymphohistiocytosis type 1 is a rare primary immunodeficiency that presents as a hyperinflammatory condition characterized by...

Familial hyperaldosteronism is a heritable form of primary aldosteronism that affects adrenal hormone production, leading to high blood pressure and e...

Familial hyperaldosteronism type II (FH-II) is a heritable endocrine disorder characterized by excess aldosterone production that often results in hig...

Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism that affects the endocrine system, leading to severe h...