MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Hereditary inclusion body myopathy type 4

ORPHA:324381Ауру
Autosomal dominant

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

ORPHA:79091Ауру
Autosomal dominant

Hereditary isolated aplastic anemia

ORPHA:397692Ауру
Autosomal dominant, Autosomal recessive

Hereditary late-onset Parkinson disease

ORPHA:411602Ауру
Autosomal dominant

Hereditary leiomyomatosis and renal cell cancer

ORPHA:523Ауру
Autosomal dominant

Hereditary mixed polyposis syndrome

ORPHA:157794Ауру
Autosomal dominant

Hereditary motor and sensory neuropathy type 5

ORPHA:64751Ауру
Autosomal dominant

Hereditary motor and sensory neuropathy type 6

ORPHA:90120Ауру
Autosomal dominant, Autosomal recessive

Hereditary motor and sensory neuropathy with acrodystrophy

ORPHA:90119Ауру
Autosomal recessive

Hereditary motor and sensory neuropathy, Okinawa type

ORPHA:90117Ауру
Autosomal dominant

Hereditary mucoepithelial dysplasia

ORPHA:1839Мальф.
Autosomal dominant

Hereditary myopathy with early respiratory failure

ORPHA:178464Ауру
Autosomal dominant

Hereditary myopathy with lactic acidosis due to ISCU deficiency

ORPHA:43115Ауру
Autosomal recessive

Hereditary neurocutaneous malformation

ORPHA:1062Ауру
Autosomal dominant

Hereditary neuroendocrine tumor of small intestine

ORPHA:456333Ауру
Autosomal dominant

Hereditary neuropathy with liability to pressure palsies

ORPHA:640Мальф.
Autosomal dominant

Hereditary neutrophilia

ORPHA:279943Ауру
Autosomal dominant

Hereditary orotic aciduria

ORPHA:30Ауру
Autosomal recessive

Hereditary painful callosities

ORPHA:79141Ауру
Autosomal dominant

Hereditary papillary renal cell carcinoma

ORPHA:47044Ауру
Autosomal dominant

Hereditary persistence of alpha-fetoprotein

ORPHA:168615Био аном.
Autosomal dominant

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

ORPHA:46532Ауру
Autosomal dominant

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

ORPHA:619233Ауру
Autosomal dominant

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

ORPHA:251380Ауру
Autosomal recessive