MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Familial episodic pain syndrome

ORPHA:391384Disease
Autosomal dominant

Familial episodic pain syndrome with predominantly lower limb involvement

ORPHA:391392Clin. sub.
Autosomal dominant

Familial episodic pain syndrome with predominantly upper body involvement

ORPHA:391389Clin. sub.
Autosomal dominant

Familial expansile osteolysis

ORPHA:85195Disease
Autosomal dominant

Familial exudative vitreoretinopathy

ORPHA:891Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Familial focal epilepsy with variable foci

ORPHA:98820Disease
Autosomal dominant

Familial gastric type 1 neuroendocrine tumor

ORPHA:464756Disease
Autosomal recessive

Familial generalized lentiginosis

ORPHA:231040Disease
Autosomal dominant, Unknown

Familial gestational hyperthyroidism

ORPHA:99819Disease
Autosomal dominant

Familial glucocorticoid deficiency

ORPHA:361Disease
Autosomal recessive

Familial hemophagocytic lymphohistiocytosis

ORPHA:540Disease
Autosomal recessive

Familial hyperaldosteronism

ORPHA:235936Clin. grp.
Autosomal dominant

Familial hyperaldosteronism type I

ORPHA:403Disease
Autosomal dominant

Familial hyperaldosteronism type II

ORPHA:404Disease
Autosomal dominant

Familial hyperaldosteronism type III

ORPHA:251274Disease
Autosomal dominant

Familial hyperaldosteronism type IV

ORPHA:642671Disease

Familial hypercholanemia

ORPHA:238475Disease
Autosomal recessive

Familial hyperinflammatory lymphoproliferative immunodeficiency

ORPHA:619953Disease
Autosomal recessive

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

ORPHA:306661Clin. sub.
Autosomal recessive

Familial hyperprolactinemia

ORPHA:397685Disease
Autosomal dominant

Familial hyperthyroidism due to mutations in TSH receptor

ORPHA:424Disease
Autosomal dominant

Familial hypoaldosteronism

ORPHA:427Disease
Autosomal recessive

Familial hypocalciuric hypercalcemia

ORPHA:405Disease
Autosomal dominant

Familial hypocalciuric hypercalcemia type 1

ORPHA:93372Etio. sub.
Autosomal dominant