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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Paternal uniparental disomy of chromosome 13 syndrome

ORPHA:99324Порок

Paternal uniparental disomy of chromosome 20 syndrome

ORPHA:96194Порок

Paternal uniparental disomy of chromosome 21 syndrome

ORPHA:96195Порок

Paternal uniparental disomy of chromosome 5 syndrome

ORPHA:96190Порок

Paternal uniparental disomy of chromosome 6 syndrome

ORPHA:96191Порок

Paternal uniparental disomy of chromosome 7 syndrome

ORPHA:96192Порок

Paternal uniparental disomy of chromosome X syndrome

ORPHA:261524Порок

Pattern dystrophy

ORPHA:63454Кат.
Autosomal dominant, Autosomal recessive

Patterson-Stevenson-Fontaine syndrome

ORPHA:2439Порок
Autosomal dominant

Pauci-immune glomerulonephritis

ORPHA:93126Заболевание
Not applicable

Pauci-immune glomerulonephritis with ANCA

ORPHA:97563Клин. подт.
Not applicable

Pauci-immune glomerulonephritis without ANCA

ORPHA:97564Клин. подт.
Not applicable

Pearson syndrome

ORPHA:699Заболевание
Mitochondrial inheritance, Not applicable

Pectus excavatum-macrocephaly-dysplastic nails syndrome

ORPHA:2835Порок
Unknown

Pediatric acute respiratory distress syndrome

ORPHA:685082Заболевание

Pediatric arterial ischemic stroke

ORPHA:439175Clinical syndrome
Not applicable

Pediatric collagenous gastritis

ORPHA:487809Заболевание

Pediatric hepatocellular carcinoma

ORPHA:33402Заболевание
Not applicable

Pediatric multiple sclerosis

ORPHA:477738Заболевание

Pediatric systemic lupus erythematosus

ORPHA:93552Заболевание
Not applicable

Pediatric-onset Graves disease

ORPHA:525731Заболевание

Pediatric-onset glaucoma

ORPHA:523000Кат.

Pediatric-onset glaucoma of genetic origin

ORPHA:359Кат.
Autosomal dominant, Autosomal recessive

Peeling skin syndrome

ORPHA:817Клин. гр.
Autosomal recessive