MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Familial median cleft of the upper and lower lips

ORPHA:401942Malform.
Unknown

Familial melanoma

ORPHA:618Disease
Autosomal dominant, Multigenic/multifactorial

Familial mesial temporal lobe epilepsy

ORPHA:163717Disease
Autosomal dominant

Familial mitral valve prolapse

ORPHA:741Morph.
Autosomal dominant

Familial monosomy 7 syndrome

ORPHA:495930Disease

Familial multinodular goiter

ORPHA:276399Disease
Autosomal dominant

Familial multiple discoid fibromas

ORPHA:538756Disease

Familial multiple lipomatosis

ORPHA:199276Disease

Familial multiple meningioma

ORPHA:263662Disease
Autosomal dominant

Familial multiple nevi flammei

ORPHA:624Morph.
Autosomal dominant

Familial multiple trichoepithelioma

ORPHA:867Clin. sub.
Autosomal dominant

Familial nasal acilia

ORPHA:922Disease

Familial normophosphatemic tumoral calcinosis

ORPHA:306658Clin. sub.
Autosomal recessive

Familial omphalocele syndrome with facial dysmorphism

ORPHA:280403Malform.
Autosomal dominant

Familial or sporadic hemiplegic migraine

ORPHA:569Disease
Autosomal dominant

Familial ossifying fibroma

ORPHA:435329Disease
Autosomal dominant

Familial osteochondritis dissecans

ORPHA:251262Disease
Autosomal dominant

Familial osteodysplasia, Anderson type

ORPHA:2769Malform.

Familial pancreatic carcinoma

ORPHA:1333Disease
Autosomal dominant, Multigenic/multifactorial

Familial papillary or follicular thyroid carcinoma

ORPHA:319487Disease
Not applicable

Familial papillary thyroid carcinoma with renal papillary neoplasia

ORPHA:97290Disease

Familial paroxysmal ataxia

ORPHA:97Disease
Autosomal dominant

Familial partial lipodystrophy

ORPHA:98306Clin. grp.
Autosomal dominant, Autosomal recessive

Familial partial lipodystrophy, Dunnigan type

ORPHA:2348Disease
Autosomal dominant