MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Preeclampsia

ORPHA:275555Disease
Not applicable

Prenatal benign hypophosphatasia

ORPHA:247638Clin. sub.
Autosomal dominant, Autosomal recessive

Prenatal-onset spinal muscular atrophy with congenital bone fractures

ORPHA:486811Disease
Autosomal recessive

Pressure-induced localized lipoatrophy

ORPHA:90160Disease

Presumed ocular histoplasmosis syndrome

ORPHA:714160Disease
Not applicable

Presynaptic congenital myasthenic syndromes

ORPHA:98914Etio. sub.
Autosomal dominant, Autosomal recessive

Primary CD59 deficiency

ORPHA:169464Disease
Autosomal recessive

Primary Fanconi renotubular syndrome

ORPHA:3337Disease
Autosomal dominant, Autosomal recessive

Primary Sjögren disease

ORPHA:289390Disease
Not applicable

Primary adult heart tumor

ORPHA:874Disease
Not applicable

Primary anetoderma

ORPHA:228272Disease
Not applicable

Primary angiitis of the central nervous system

ORPHA:140989Disease
Not applicable

Primary basilar invagination

ORPHA:2285Morph.
Autosomal dominant

Primary biliary cholangitis

ORPHA:186Disease
Multigenic/multifactorial, Unknown

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

ORPHA:562639Disease

Primary bone lymphoma

ORPHA:314684Disease

Primary central nervous system lymphoma

ORPHA:46135Disease
Not applicable

Primary choroidal lymphoma

ORPHA:714046Disease
Not applicable

Primary ciliary dyskinesia

ORPHA:244Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

ORPHA:247522Disease
X-linked recessive

Primary condylar hyperplasia

ORPHA:477781Disease

Primary congenital hypothyroidism

ORPHA:226295Clin. grp.

Primary congenital hypothyroidism without thyroid developmental anomaly

ORPHA:95714Cat.

Primary cutaneous CD30+ T-cell lymphoproliferative disease

ORPHA:541Clin. grp.