MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Malf.
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Malf.
Autosomal recessive

Neurofaciodigitorenal syndrome

ORPHA:2673Malf.

Neurofibromatosis-Noonan syndrome

ORPHA:638Malf.
Autosomal dominant

Nicolaides-Baraitser syndrome

ORPHA:3051Malf.
Autosomal dominant

Night blindness-skeletal anomalies-dysmorphism syndrome

ORPHA:1390Malf.

Nijmegen breakage syndrome

ORPHA:647Malf.
Autosomal recessive

Nijmegen breakage syndrome-like disorder

ORPHA:240760Malf.
Autosomal recessive

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

ORPHA:231720Malf.
Autosomal recessive

Non-distal deletion 10q syndrome

ORPHA:1581Malf.

Non-distal deletion 12q syndrome

ORPHA:96160Malf.

Non-distal duplication 10q syndrome

ORPHA:1695Malf.

Non-distal duplication 13q syndrome

ORPHA:1702Malf.

Non-distal duplication 9q syndrome

ORPHA:96112Malf.

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

ORPHA:2972Malf.
No data available

Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516Malf.
Autosomal recessive

Noonan syndrome

ORPHA:648Malf.
Autosomal dominant, Autosomal recessive

Noonan syndrome with multiple lentigines

ORPHA:500Malf.
Autosomal dominant

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

ORPHA:363972Malf.
Autosomal dominant

Noonan syndrome-like disorder with loose anagen hair

ORPHA:2701Malf.
Autosomal dominant

Norrie disease

ORPHA:649Malf.
X-linked recessive

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Malf.

OSLAM syndrome

ORPHA:2760Malf.
Autosomal dominant

Occipital pachygyria and polymicrogyria

ORPHA:280640Malf.
Autosomal recessive