MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

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 nasal acilia

ORPHA:922Disease

Familial or sporadic hemiplegic migraine

ORPHA:569Disease
Autosomal dominant

Familial ossifying fibroma

ORPHA:435329Disease
Autosomal dominant

Familial osteochondritis dissecans

ORPHA:251262Disease
Autosomal dominant

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, Dunnigan type

ORPHA:2348Disease
Autosomal dominant

Familial partial lipodystrophy, Köbberling type

ORPHA:79084Disease
Autosomal dominant

Familial peripheral male-limited precocious puberty

ORPHA:3000Disease
Autosomal dominant

Familial platelet disorder with associated myeloid malignancy

ORPHA:71290Disease
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 reactive perforating collagenosis

ORPHA:79147Disease