MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Hereditary cryohydrocytosis with normal stomatin

ORPHA:398088Disease
Autosomal dominant

Hereditary cryohydrocytosis with reduced stomatin

ORPHA:168577Disease
Autosomal dominant

Hereditary diffuse gastric cancer

ORPHA:26106Disease
Autosomal dominant

Hereditary elliptocytosis

ORPHA:288Disease
Autosomal dominant, Autosomal recessive

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

ORPHA:221043Disease
Autosomal dominant

Hereditary folate malabsorption

ORPHA:90045Disease
Autosomal recessive

Hereditary fructose intolerance

ORPHA:469Disease
Autosomal recessive

Hereditary geniospasm

ORPHA:53372Disease
Autosomal dominant

Hereditary hemorrhagic telangiectasia

ORPHA:774Disease
Autosomal dominant

Hereditary hypercarotenemia and vitamin A deficiency

ORPHA:199285Disease
Autosomal dominant

Hereditary hyperekplexia

ORPHA:3197Disease
Autosomal dominant, Autosomal recessive

Hereditary hyperferritinemia-cataract syndrome

ORPHA:163Disease
Autosomal dominant

Hereditary hypophosphatemic rickets with hypercalciuria

ORPHA:157215Disease
Autosomal dominant, Autosomal recessive

Hereditary hypotrichosis with recurrent skin vesicles

ORPHA:217407Disease
Autosomal recessive

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