MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Familial median cleft of the upper and lower lips

ORPHA:401942Malf.
Unknown

Familial melanoma

ORPHA:618Kr.
Autosomal dominant, Multigenic/multifactorial

Familial mesial temporal lobe epilepsy

ORPHA:163717Kr.
Autosomal dominant

Familial mitral valve prolapse

ORPHA:741Morph.
Autosomal dominant

Familial monosomy 7 syndrome

ORPHA:495930Kr.

Familial multinodular goiter

ORPHA:276399Kr.
Autosomal dominant

Familial multiple discoid fibromas

ORPHA:538756Kr.

Familial multiple lipomatosis

ORPHA:199276Kr.

Familial multiple meningioma

ORPHA:263662Kr.
Autosomal dominant

Familial multiple nevi flammei

ORPHA:624Morph.
Autosomal dominant

Familial multiple trichoepithelioma

ORPHA:867Kl. subt.
Autosomal dominant

Familial nasal acilia

ORPHA:922Kr.

Familial normophosphatemic tumoral calcinosis

ORPHA:306658Kl. subt.
Autosomal recessive

Familial omphalocele syndrome with facial dysmorphism

ORPHA:280403Malf.
Autosomal dominant

Familial or sporadic hemiplegic migraine

ORPHA:569Kr.
Autosomal dominant

Familial ossifying fibroma

ORPHA:435329Kr.
Autosomal dominant

Familial osteochondritis dissecans

ORPHA:251262Kr.
Autosomal dominant

Familial osteodysplasia, Anderson type

ORPHA:2769Malf.

Familial pancreatic carcinoma

ORPHA:1333Kr.
Autosomal dominant, Multigenic/multifactorial

Familial papillary or follicular thyroid carcinoma

ORPHA:319487Kr.
Not applicable

Familial papillary thyroid carcinoma with renal papillary neoplasia

ORPHA:97290Kr.

Familial paroxysmal ataxia

ORPHA:97Kr.
Autosomal dominant

Familial partial lipodystrophy

ORPHA:98306Kl. gruppe
Autosomal dominant, Autosomal recessive

Familial partial lipodystrophy, Dunnigan type

ORPHA:2348Kr.
Autosomal dominant