MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Paternal uniparental disomy of chromosome 13 syndrome

ORPHA:99324Мальф.

Paternal uniparental disomy of chromosome 20 syndrome

ORPHA:96194Мальф.

Paternal uniparental disomy of chromosome 21 syndrome

ORPHA:96195Мальф.

Paternal uniparental disomy of chromosome 5 syndrome

ORPHA:96190Мальф.

Paternal uniparental disomy of chromosome 6 syndrome

ORPHA:96191Мальф.

Paternal uniparental disomy of chromosome 7 syndrome

ORPHA:96192Мальф.

Paternal uniparental disomy of chromosome X syndrome

ORPHA:261524Мальф.

Pattern dystrophy

ORPHA:63454Сан.
Autosomal dominant, Autosomal recessive

Patterson-Stevenson-Fontaine syndrome

ORPHA:2439Мальф.
Autosomal dominant

Pauci-immune glomerulonephritis

ORPHA:93126Ауру
Not applicable

Pauci-immune glomerulonephritis with ANCA

ORPHA:97563Клин. под.
Not applicable

Pauci-immune glomerulonephritis without ANCA

ORPHA:97564Клин. под.
Not applicable

Pearson syndrome

ORPHA:699Ауру
Mitochondrial inheritance, Not applicable

Pectus excavatum-macrocephaly-dysplastic nails syndrome

ORPHA:2835Мальф.
Unknown

Pediatric acute respiratory distress syndrome

ORPHA:685082Ауру

Pediatric arterial ischemic stroke

ORPHA:439175Clinical syndrome
Not applicable

Pediatric collagenous gastritis

ORPHA:487809Ауру

Pediatric hepatocellular carcinoma

ORPHA:33402Ауру
Not applicable

Pediatric multiple sclerosis

ORPHA:477738Ауру

Pediatric systemic lupus erythematosus

ORPHA:93552Ауру
Not applicable

Pediatric-onset Graves disease

ORPHA:525731Ауру

Pediatric-onset glaucoma

ORPHA:523000Сан.

Pediatric-onset glaucoma of genetic origin

ORPHA:359Сан.
Autosomal dominant, Autosomal recessive

Peeling skin syndrome

ORPHA:817Клин. топ
Autosomal recessive