MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Familial hypocalciuric hypercalcemia type 2

ORPHA:101049Этиол. подтип
Autosomal dominant

Familial hypocalciuric hypercalcemia type 3

ORPHA:101050Этиол. подтип
Autosomal dominant

Familial hypodysfibrinogenemia

ORPHA:248408Клин. подтип
Autosomal dominant

Familial hypofibrinogenemia

ORPHA:101041Клин. подтип
Autosomal dominant

Familial idiopathic dilatation of the right atrium

ORPHA:1677Морф. аномалия
Unknown

Familial infantile bilateral striatal necrosis

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

Familial infantile myoclonic epilepsy

ORPHA:352582Заболевание
Autosomal recessive

Familial intestinal malrotation

ORPHA:508410Морф. аномалия

Familial intraosseous vascular malformation

ORPHA:140436Заболевание
Autosomal recessive

Familial isolated café-au-lait macules

ORPHA:2678Мальформация
Autosomal dominant

Familial isolated congenital asplenia

ORPHA:101351Морф. аномалия
Autosomal dominant

Familial isolated dilated cardiomyopathy

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

Familial isolated hyperparathyroidism

ORPHA:99879Заболевание
Autosomal dominant

Familial isolated hypoparathyroidism

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

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

ORPHA:2239Клин. подтип
Autosomal recessive, X-linked recessive

Familial isolated hypoparathyroidism due to impaired PTH secretion

ORPHA:189466Клин. подтип
Autosomal dominant, Autosomal recessive

Familial isolated pituitary adenoma

ORPHA:314777Заболевание
Autosomal dominant

Familial isolated restrictive cardiomyopathy

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

Familial isolated retinal arteriolar tortuosity

ORPHA:75326Заболевание
Autosomal dominant, Not applicable

Familial isolated trichomegaly

ORPHA:411788Заболевание
Autosomal recessive

Familial juvenile hypertrophy of the breast

ORPHA:180176Морф. аномалия
Not applicable

Familial keratoacanthoma

ORPHA:493Заболевание
Autosomal dominant

Familial lipase maturation factor 1 deficiency

ORPHA:535453Этиол. подтип
Autosomal recessive

Familial lipoprotein lipase deficiency

ORPHA:309015Этиол. подтип
Autosomal dominant, Autosomal recessive