MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Familial partial lipodystrophy, Köbberling type

ORPHA:79084Disease
Autosomal dominant

Familial patent arterial duct

ORPHA:466729Morph.
Autosomal dominant

Familial peripheral male-limited precocious puberty

ORPHA:3000Disease
Autosomal dominant

Familial platelet disorder with associated myeloid malignancy

ORPHA:71290Disease
Autosomal dominant

Familial porencephaly

ORPHA:99810Etio. sub.
Autosomal dominant

Familial porphyria cutanea tarda

ORPHA:443062Clin. sub.
Autosomal dominant

Familial primary hyperparathyroidism

ORPHA:2207Clin. grp.
Autosomal dominant

Familial primary localized cutaneous amyloidosis

ORPHA:353220Disease
Autosomal dominant

Familial progressive hyper- and hypopigmentation

ORPHA:280628Disease
Autosomal dominant

Familial progressive hyperpigmentation

ORPHA:79146Disease
Autosomal dominant

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

ORPHA:488197Disease
Autosomal dominant

Familial prostate cancer

ORPHA:1331Disease
Not applicable

Familial pseudohyperkalemia

ORPHA:90044Disease
Autosomal dominant

Familial pterygium of the conjunctiva

ORPHA:2989Morph.
Autosomal dominant

Familial reactive perforating collagenosis

ORPHA:79147Disease

Familial recurrent peripheral facial palsy

ORPHA:2809Disease

Familial renal glucosuria

ORPHA:69076Disease
Autosomal dominant, Autosomal recessive

Familial retinal arterial macroaneurysm

ORPHA:284247Malform.
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Malform.
Autosomal dominant

Familial schizencephaly

ORPHA:481986Etio. sub.
Autosomal recessive

Familial spontaneous pneumothorax

ORPHA:2903Disease
Autosomal dominant

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

ORPHA:506334Disease
Autosomal recessive

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

ORPHA:280406Disease
Autosomal recessive

Familial supernumerary nipples

ORPHA:2456Morph.