MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Hereditary cryohydrocytosis with normal stomatin

ORPHA:398088Заболевание
Autosomal dominant

Hereditary cryohydrocytosis with reduced stomatin

ORPHA:168577Заболевание
Autosomal dominant

Hereditary diffuse gastric cancer

ORPHA:26106Заболевание
Autosomal dominant

Hereditary elliptocytosis

ORPHA:288Заболевание
Autosomal dominant, Autosomal recessive

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

ORPHA:221043Заболевание
Autosomal dominant

Hereditary folate malabsorption

ORPHA:90045Заболевание
Autosomal recessive

Hereditary fructose intolerance

ORPHA:469Заболевание
Autosomal recessive

Hereditary geniospasm

ORPHA:53372Заболевание
Autosomal dominant

Hereditary hemorrhagic telangiectasia

ORPHA:774Заболевание
Autosomal dominant

Hereditary hypercarotenemia and vitamin A deficiency

ORPHA:199285Заболевание
Autosomal dominant

Hereditary hyperekplexia

ORPHA:3197Заболевание
Autosomal dominant, Autosomal recessive

Hereditary hyperferritinemia-cataract syndrome

ORPHA:163Заболевание
Autosomal dominant

Hereditary hypophosphatemic rickets with hypercalciuria

ORPHA:157215Заболевание
Autosomal dominant, Autosomal recessive

Hereditary hypotrichosis with recurrent skin vesicles

ORPHA:217407Заболевание
Autosomal recessive

Hereditary inclusion body myopathy type 4

ORPHA:324381Заболевание
Autosomal dominant

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

ORPHA:79091Заболевание
Autosomal dominant

Hereditary isolated aplastic anemia

ORPHA:397692Заболевание
Autosomal dominant, Autosomal recessive

Hereditary late-onset Parkinson disease

ORPHA:411602Заболевание
Autosomal dominant

Hereditary leiomyomatosis and renal cell cancer

ORPHA:523Заболевание
Autosomal dominant

Hereditary mixed polyposis syndrome

ORPHA:157794Заболевание
Autosomal dominant

Hereditary motor and sensory neuropathy type 5

ORPHA:64751Заболевание
Autosomal dominant

Hereditary motor and sensory neuropathy type 6

ORPHA:90120Заболевание
Autosomal dominant, Autosomal recessive

Hereditary motor and sensory neuropathy with acrodystrophy

ORPHA:90119Заболевание
Autosomal recessive

Hereditary motor and sensory neuropathy, Okinawa type

ORPHA:90117Заболевание
Autosomal dominant