MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
194 diseases matched (Cat.) Reset

Primary lymphedema

ORPHA:77240Cat.
Autosomal dominant, Autosomal recessive

Primary melanocytic tumor of central nervous system

ORPHA:252028Cat.

Pseudohypoparathyroidism

ORPHA:97593Cat.
Autosomal dominant, Not applicable

Pulmonary arterial hypertension

ORPHA:182090Cat.
Autosomal dominant, Not applicable

Pulmonary arterial hypertension associated with another disease

ORPHA:275791Cat.
Not applicable

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

ORPHA:431353Cat.

Rare carcinoma of pancreas

ORPHA:217074Cat.
Not applicable

Rare congenital non-syndromic heart malformation

ORPHA:88991Cat.

Rare developmental defect during embryogenesis

ORPHA:93890Cat.

Rare disease with Pierre Robin syndrome

ORPHA:138044Cat.

Rare epithelial tumor of stomach

ORPHA:63443Cat.
Multigenic/multifactorial, Not applicable

Rare familial disorder with hypertrophic cardiomyopathy

ORPHA:99739Cat.
Autosomal dominant

Rare form of salmonellosis

ORPHA:795Cat.
Not applicable

Rare hereditary hemochromatosis

ORPHA:220489Cat.
Autosomal dominant, Autosomal recessive

Rare inborn errors of metabolism

ORPHA:68367Cat.

Rare lichen planus

ORPHA:254367Cat.

Rare non surgically correctable form of primary aldosteronism

ORPHA:231641Cat.
Autosomal dominant, Not applicable

Rare ovarian cancer

ORPHA:213500Cat.

Rare pulmonary hypertension

ORPHA:71198Cat.

Rare surgically correctable form of primary aldosteronism

ORPHA:231637Cat.
Not applicable

Rare thyroid carcinoma

ORPHA:100088Cat.

Rare thyroid tumor

ORPHA:100087Cat.

Rare urogenital tumor

ORPHA:182114Cat.

Ring chromosome syndrome

ORPHA:363203Cat.