MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Familial hypocalciuric hypercalcemia type 2

ORPHA:101049Etio. sub.
Autosomal dominant

Familial hypocalciuric hypercalcemia type 3

ORPHA:101050Etio. sub.
Autosomal dominant

Familial hypodysfibrinogenemia

ORPHA:248408Clin. sub.
Autosomal dominant

Familial hypofibrinogenemia

ORPHA:101041Clin. sub.
Autosomal dominant

Familial idiopathic dilatation of the right atrium

ORPHA:1677Morph.
Unknown

Familial infantile bilateral striatal necrosis

ORPHA:225154Disease
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance

Familial infantile myoclonic epilepsy

ORPHA:352582Disease
Autosomal recessive

Familial intestinal malrotation

ORPHA:508410Morph.

Familial intraosseous vascular malformation

ORPHA:140436Disease
Autosomal recessive

Familial isolated café-au-lait macules

ORPHA:2678Malform.
Autosomal dominant

Familial isolated congenital asplenia

ORPHA:101351Morph.
Autosomal dominant

Familial isolated dilated cardiomyopathy

ORPHA:154Disease
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Familial isolated hyperparathyroidism

ORPHA:99879Disease
Autosomal dominant

Familial isolated hypoparathyroidism

ORPHA:2238Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

ORPHA:2239Clin. sub.
Autosomal recessive, X-linked recessive

Familial isolated hypoparathyroidism due to impaired PTH secretion

ORPHA:189466Clin. sub.
Autosomal dominant, Autosomal recessive

Familial isolated pituitary adenoma

ORPHA:314777Disease
Autosomal dominant

Familial isolated restrictive cardiomyopathy

ORPHA:75249Disease
Autosomal dominant, Autosomal recessive, Not applicable

Familial isolated retinal arteriolar tortuosity

ORPHA:75326Disease
Autosomal dominant, Not applicable

Familial isolated trichomegaly

ORPHA:411788Disease
Autosomal recessive

Familial juvenile hypertrophy of the breast

ORPHA:180176Morph.
Not applicable

Familial keratoacanthoma

ORPHA:493Disease
Autosomal dominant

Familial lipase maturation factor 1 deficiency

ORPHA:535453Etio. sub.
Autosomal recessive

Familial lipoprotein lipase deficiency

ORPHA:309015Etio. sub.
Autosomal dominant, Autosomal recessive