MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Paternal uniparental disomy of chromosome 13 syndrome

ORPHA:99324Malform.

Paternal uniparental disomy of chromosome 20 syndrome

ORPHA:96194Malform.

Paternal uniparental disomy of chromosome 21 syndrome

ORPHA:96195Malform.

Paternal uniparental disomy of chromosome 5 syndrome

ORPHA:96190Malform.

Paternal uniparental disomy of chromosome 6 syndrome

ORPHA:96191Malform.

Paternal uniparental disomy of chromosome 7 syndrome

ORPHA:96192Malform.

Paternal uniparental disomy of chromosome X syndrome

ORPHA:261524Malform.

Pattern dystrophy

ORPHA:63454Cat.
Autosomal dominant, Autosomal recessive

Patterson-Stevenson-Fontaine syndrome

ORPHA:2439Malform.
Autosomal dominant

Pauci-immune glomerulonephritis

ORPHA:93126Disease
Not applicable

Pauci-immune glomerulonephritis with ANCA

ORPHA:97563Clin. sub.
Not applicable

Pauci-immune glomerulonephritis without ANCA

ORPHA:97564Clin. sub.
Not applicable

Pearson syndrome

ORPHA:699Disease
Mitochondrial inheritance, Not applicable

Pectus excavatum-macrocephaly-dysplastic nails syndrome

ORPHA:2835Malform.
Unknown

Pediatric acute respiratory distress syndrome

ORPHA:685082Disease

Pediatric arterial ischemic stroke

ORPHA:439175Clinical syndrome
Not applicable

Pediatric collagenous gastritis

ORPHA:487809Disease

Pediatric hepatocellular carcinoma

ORPHA:33402Disease
Not applicable

Pediatric multiple sclerosis

ORPHA:477738Disease

Pediatric systemic lupus erythematosus

ORPHA:93552Disease
Not applicable

Pediatric-onset Graves disease

ORPHA:525731Disease

Pediatric-onset glaucoma

ORPHA:523000Cat.

Pediatric-onset glaucoma of genetic origin

ORPHA:359Cat.
Autosomal dominant, Autosomal recessive

Peeling skin syndrome

ORPHA:817Clin. grp.
Autosomal recessive