MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Hereditary breast cancer

ORPHA:227535Disease
Autosomal dominant, Multigenic/multifactorial

Hereditary bullous dystrophy, macular type

ORPHA:1867Disease
X-linked recessive

Hereditary butyrylcholinesterase deficiency

ORPHA:132Disease
Autosomal recessive

Hereditary cerebral amyloid angiopathy

ORPHA:85458Disease
Autosomal dominant

Hereditary clear cell renal cell carcinoma

ORPHA:422526Disease
Unknown

Hereditary combined deficiency of vitamin K-dependent clotting factors

ORPHA:98434Disease
Autosomal recessive

Hereditary continuous muscle fiber activity

ORPHA:972Disease
Autosomal dominant

Hereditary coproporphyria

ORPHA:79273Disease
Autosomal dominant

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 episodic ataxia

ORPHA:211062Cat.

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 gingival fibromatosis

ORPHA:2024Malform.
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