MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Hereditary inclusion body myopathy type 4

ORPHA:324381Disease
Autosomal dominant

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

ORPHA:79091Disease
Autosomal dominant

Hereditary isolated aplastic anemia

ORPHA:397692Disease
Autosomal dominant, Autosomal recessive

Hereditary late-onset Parkinson disease

ORPHA:411602Disease
Autosomal dominant

Hereditary leiomyomatosis and renal cell cancer

ORPHA:523Disease
Autosomal dominant

Hereditary mixed polyposis syndrome

ORPHA:157794Disease
Autosomal dominant

Hereditary motor and sensory neuropathy type 5

ORPHA:64751Disease
Autosomal dominant

Hereditary motor and sensory neuropathy type 6

ORPHA:90120Disease
Autosomal dominant, Autosomal recessive

Hereditary motor and sensory neuropathy with acrodystrophy

ORPHA:90119Disease
Autosomal recessive

Hereditary motor and sensory neuropathy, Okinawa type

ORPHA:90117Disease
Autosomal dominant

Hereditary mucoepithelial dysplasia

ORPHA:1839Malform.
Autosomal dominant

Hereditary myopathy with early respiratory failure

ORPHA:178464Disease
Autosomal dominant

Hereditary myopathy with lactic acidosis due to ISCU deficiency

ORPHA:43115Disease
Autosomal recessive

Hereditary neurocutaneous malformation

ORPHA:1062Disease
Autosomal dominant

Hereditary neuroendocrine tumor of small intestine

ORPHA:456333Disease
Autosomal dominant

Hereditary neuropathy with liability to pressure palsies

ORPHA:640Malform.
Autosomal dominant

Hereditary neutrophilia

ORPHA:279943Disease
Autosomal dominant

Hereditary orotic aciduria

ORPHA:30Disease
Autosomal recessive

Hereditary painful callosities

ORPHA:79141Disease
Autosomal dominant

Hereditary papillary renal cell carcinoma

ORPHA:47044Disease
Autosomal dominant

Hereditary persistence of alpha-fetoprotein

ORPHA:168615Bio anom.
Autosomal dominant

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

ORPHA:46532Disease
Autosomal dominant

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

ORPHA:619233Disease
Autosomal dominant

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

ORPHA:251380Disease
Autosomal recessive