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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Мальф.
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Мальф.
Autosomal recessive

Neurofaciodigitorenal syndrome

ORPHA:2673Мальф.

Neurofibromatosis-Noonan syndrome

ORPHA:638Мальф.
Autosomal dominant

Nicolaides-Baraitser syndrome

ORPHA:3051Мальф.
Autosomal dominant

Night blindness-skeletal anomalies-dysmorphism syndrome

ORPHA:1390Мальф.

Nijmegen breakage syndrome

ORPHA:647Мальф.
Autosomal recessive

Nijmegen breakage syndrome-like disorder

ORPHA:240760Мальф.
Autosomal recessive

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

ORPHA:231720Мальф.
Autosomal recessive

Non-distal deletion 10q syndrome

ORPHA:1581Мальф.

Non-distal deletion 12q syndrome

ORPHA:96160Мальф.

Non-distal duplication 10q syndrome

ORPHA:1695Мальф.

Non-distal duplication 13q syndrome

ORPHA:1702Мальф.

Non-distal duplication 9q syndrome

ORPHA:96112Мальф.

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

ORPHA:2972Мальф.
No data available

Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516Мальф.
Autosomal recessive

Noonan syndrome

ORPHA:648Мальф.
Autosomal dominant, Autosomal recessive

Noonan syndrome with multiple lentigines

ORPHA:500Мальф.
Autosomal dominant

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

ORPHA:363972Мальф.
Autosomal dominant

Noonan syndrome-like disorder with loose anagen hair

ORPHA:2701Мальф.
Autosomal dominant

Norrie disease

ORPHA:649Мальф.
X-linked recessive

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Мальф.

OSLAM syndrome

ORPHA:2760Мальф.
Autosomal dominant

Occipital pachygyria and polymicrogyria

ORPHA:280640Мальф.
Autosomal recessive