MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

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 nasal acilia

ORPHA:922Kr.

Familial or sporadic hemiplegic migraine

ORPHA:569Kr.
Autosomal dominant

Familial ossifying fibroma

ORPHA:435329Kr.
Autosomal dominant

Familial osteochondritis dissecans

ORPHA:251262Kr.
Autosomal dominant

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, Dunnigan type

ORPHA:2348Kr.
Autosomal dominant

Familial partial lipodystrophy, Köbberling type

ORPHA:79084Kr.
Autosomal dominant

Familial peripheral male-limited precocious puberty

ORPHA:3000Kr.
Autosomal dominant

Familial platelet disorder with associated myeloid malignancy

ORPHA:71290Kr.
Autosomal dominant

Familial primary localized cutaneous amyloidosis

ORPHA:353220Kr.
Autosomal dominant

Familial progressive hyper- and hypopigmentation

ORPHA:280628Kr.
Autosomal dominant

Familial progressive hyperpigmentation

ORPHA:79146Kr.
Autosomal dominant

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

ORPHA:488197Kr.
Autosomal dominant

Familial prostate cancer

ORPHA:1331Kr.
Not applicable

Familial pseudohyperkalemia

ORPHA:90044Kr.
Autosomal dominant

Familial reactive perforating collagenosis

ORPHA:79147Kr.