MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
194 Erkrankungen gefunden (Kat.) Zurücksetzen

Primary lymphedema

ORPHA:77240Kat.
Autosomal dominant, Autosomal recessive

Primary melanocytic tumor of central nervous system

ORPHA:252028Kat.

Pseudohypoparathyroidism

ORPHA:97593Kat.
Autosomal dominant, Not applicable

Pulmonary arterial hypertension

ORPHA:182090Kat.
Autosomal dominant, Not applicable

Pulmonary arterial hypertension associated with another disease

ORPHA:275791Kat.
Not applicable

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

ORPHA:431353Kat.

Rare carcinoma of pancreas

ORPHA:217074Kat.
Not applicable

Rare congenital non-syndromic heart malformation

ORPHA:88991Kat.

Rare developmental defect during embryogenesis

ORPHA:93890Kat.

Rare disease with Pierre Robin syndrome

ORPHA:138044Kat.

Rare epithelial tumor of stomach

ORPHA:63443Kat.
Multigenic/multifactorial, Not applicable

Rare familial disorder with hypertrophic cardiomyopathy

ORPHA:99739Kat.
Autosomal dominant

Rare form of salmonellosis

ORPHA:795Kat.
Not applicable

Rare hereditary hemochromatosis

ORPHA:220489Kat.
Autosomal dominant, Autosomal recessive

Rare inborn errors of metabolism

ORPHA:68367Kat.

Rare lichen planus

ORPHA:254367Kat.

Rare non surgically correctable form of primary aldosteronism

ORPHA:231641Kat.
Autosomal dominant, Not applicable

Rare ovarian cancer

ORPHA:213500Kat.

Rare pulmonary hypertension

ORPHA:71198Kat.

Rare surgically correctable form of primary aldosteronism

ORPHA:231637Kat.
Not applicable

Rare thyroid carcinoma

ORPHA:100088Kat.

Rare thyroid tumor

ORPHA:100087Kat.

Rare urogenital tumor

ORPHA:182114Kat.

Ring chromosome syndrome

ORPHA:363203Kat.