MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Hereditary inclusion body myopathy type 4

ORPHA:324381Kr.
Autosomal dominant

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

ORPHA:79091Kr.
Autosomal dominant

Hereditary isolated aplastic anemia

ORPHA:397692Kr.
Autosomal dominant, Autosomal recessive

Hereditary late-onset Parkinson disease

ORPHA:411602Kr.
Autosomal dominant

Hereditary leiomyomatosis and renal cell cancer

ORPHA:523Kr.
Autosomal dominant

Hereditary mixed polyposis syndrome

ORPHA:157794Kr.
Autosomal dominant

Hereditary motor and sensory neuropathy type 5

ORPHA:64751Kr.
Autosomal dominant

Hereditary motor and sensory neuropathy type 6

ORPHA:90120Kr.
Autosomal dominant, Autosomal recessive

Hereditary motor and sensory neuropathy with acrodystrophy

ORPHA:90119Kr.
Autosomal recessive

Hereditary motor and sensory neuropathy, Okinawa type

ORPHA:90117Kr.
Autosomal dominant

Hereditary mucoepithelial dysplasia

ORPHA:1839Malf.
Autosomal dominant

Hereditary myopathy with early respiratory failure

ORPHA:178464Kr.
Autosomal dominant

Hereditary myopathy with lactic acidosis due to ISCU deficiency

ORPHA:43115Kr.
Autosomal recessive

Hereditary neurocutaneous malformation

ORPHA:1062Kr.
Autosomal dominant

Hereditary neuroendocrine tumor of small intestine

ORPHA:456333Kr.
Autosomal dominant

Hereditary neuropathy with liability to pressure palsies

ORPHA:640Malf.
Autosomal dominant

Hereditary neutrophilia

ORPHA:279943Kr.
Autosomal dominant

Hereditary orotic aciduria

ORPHA:30Kr.
Autosomal recessive

Hereditary painful callosities

ORPHA:79141Kr.
Autosomal dominant

Hereditary papillary renal cell carcinoma

ORPHA:47044Kr.
Autosomal dominant

Hereditary persistence of alpha-fetoprotein

ORPHA:168615Bio-An.
Autosomal dominant

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

ORPHA:46532Kr.
Autosomal dominant

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

ORPHA:619233Kr.
Autosomal dominant

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

ORPHA:251380Kr.
Autosomal recessive