MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Мальформация
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Мальформация
Autosomal recessive

Neurofaciodigitorenal syndrome

ORPHA:2673Мальформация

Neurofibromatosis-Noonan syndrome

ORPHA:638Мальформация
Autosomal dominant

Nicolaides-Baraitser syndrome

ORPHA:3051Мальформация
Autosomal dominant

Night blindness-skeletal anomalies-dysmorphism syndrome

ORPHA:1390Мальформация

Nijmegen breakage syndrome

ORPHA:647Мальформация
Autosomal recessive

Nijmegen breakage syndrome-like disorder

ORPHA:240760Мальформация
Autosomal recessive

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

ORPHA:231720Мальформация
Autosomal recessive

Non-distal deletion 10q syndrome

ORPHA:1581Мальформация

Non-distal deletion 12q syndrome

ORPHA:96160Мальформация

Non-distal duplication 10q syndrome

ORPHA:1695Мальформация

Non-distal duplication 13q syndrome

ORPHA:1702Мальформация

Non-distal duplication 9q syndrome

ORPHA:96112Мальформация

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

ORPHA:2972Мальформация
No data available

Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516Мальформация
Autosomal recessive

Noonan syndrome

ORPHA:648Мальформация
Autosomal dominant, Autosomal recessive

Noonan syndrome with multiple lentigines

ORPHA:500Мальформация
Autosomal dominant

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

ORPHA:363972Мальформация
Autosomal dominant

Noonan syndrome-like disorder with loose anagen hair

ORPHA:2701Мальформация
Autosomal dominant

Norrie disease

ORPHA:649Мальформация
X-linked recessive

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Мальформация

OSLAM syndrome

ORPHA:2760Мальформация
Autosomal dominant

Occipital pachygyria and polymicrogyria

ORPHA:280640Мальформация
Autosomal recessive