MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Familial partial lipodystrophy, Köbberling type

ORPHA:79084Kr.
Autosomal dominant

Familial patent arterial duct

ORPHA:466729Morph.
Autosomal dominant

Familial peripheral male-limited precocious puberty

ORPHA:3000Kr.
Autosomal dominant

Familial platelet disorder with associated myeloid malignancy

ORPHA:71290Kr.
Autosomal dominant

Familial porencephaly

ORPHA:99810Ätl. subt.
Autosomal dominant

Familial porphyria cutanea tarda

ORPHA:443062Kl. subt.
Autosomal dominant

Familial primary hyperparathyroidism

ORPHA:2207Kl. gruppe
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 pterygium of the conjunctiva

ORPHA:2989Morph.
Autosomal dominant

Familial reactive perforating collagenosis

ORPHA:79147Kr.

Familial recurrent peripheral facial palsy

ORPHA:2809Kr.

Familial renal glucosuria

ORPHA:69076Kr.
Autosomal dominant, Autosomal recessive

Familial retinal arterial macroaneurysm

ORPHA:284247Malf.
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Malf.
Autosomal dominant

Familial schizencephaly

ORPHA:481986Ätl. subt.
Autosomal recessive

Familial spontaneous pneumothorax

ORPHA:2903Kr.
Autosomal dominant

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

ORPHA:506334Kr.
Autosomal recessive

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

ORPHA:280406Kr.
Autosomal recessive

Familial supernumerary nipples

ORPHA:2456Morph.