MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

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

Hereditary mucoepithelial dysplasia

ORPHA:1839Мальформация
Autosomal dominant

Hereditary myopathy with early respiratory failure

ORPHA:178464Заболевание
Autosomal dominant

Hereditary myopathy with lactic acidosis due to ISCU deficiency

ORPHA:43115Заболевание
Autosomal recessive

Hereditary neurocutaneous malformation

ORPHA:1062Заболевание
Autosomal dominant

Hereditary neuroendocrine tumor of small intestine

ORPHA:456333Заболевание
Autosomal dominant

Hereditary neuropathy with liability to pressure palsies

ORPHA:640Мальформация
Autosomal dominant

Hereditary neutrophilia

ORPHA:279943Заболевание
Autosomal dominant

Hereditary orotic aciduria

ORPHA:30Заболевание
Autosomal recessive

Hereditary painful callosities

ORPHA:79141Заболевание
Autosomal dominant

Hereditary papillary renal cell carcinoma

ORPHA:47044Заболевание
Autosomal dominant

Hereditary persistence of alpha-fetoprotein

ORPHA:168615Биоаномалия
Autosomal dominant

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

ORPHA:46532Заболевание
Autosomal dominant

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

ORPHA:619233Заболевание
Autosomal dominant

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

ORPHA:251380Заболевание
Autosomal recessive