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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Порок
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Порок
Autosomal recessive

Neurofaciodigitorenal syndrome

ORPHA:2673Порок

Neurofibromatosis-Noonan syndrome

ORPHA:638Порок
Autosomal dominant

Nicolaides-Baraitser syndrome

ORPHA:3051Порок
Autosomal dominant

Night blindness-skeletal anomalies-dysmorphism syndrome

ORPHA:1390Порок

Nijmegen breakage syndrome

ORPHA:647Порок
Autosomal recessive

Nijmegen breakage syndrome-like disorder

ORPHA:240760Порок
Autosomal recessive

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

ORPHA:231720Порок
Autosomal recessive

Non-distal deletion 10q syndrome

ORPHA:1581Порок

Non-distal deletion 12q syndrome

ORPHA:96160Порок

Non-distal duplication 10q syndrome

ORPHA:1695Порок

Non-distal duplication 13q syndrome

ORPHA:1702Порок

Non-distal duplication 9q syndrome

ORPHA:96112Порок

Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome

ORPHA:2972Порок
No data available

Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516Порок
Autosomal recessive

Noonan syndrome

ORPHA:648Порок
Autosomal dominant, Autosomal recessive

Noonan syndrome with multiple lentigines

ORPHA:500Порок
Autosomal dominant

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

ORPHA:363972Порок
Autosomal dominant

Noonan syndrome-like disorder with loose anagen hair

ORPHA:2701Порок
Autosomal dominant

Norrie disease

ORPHA:649Порок
X-linked recessive

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Порок

OSLAM syndrome

ORPHA:2760Порок
Autosomal dominant

Occipital pachygyria and polymicrogyria

ORPHA:280640Порок
Autosomal recessive