MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Malf.
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Malf.
Autosomal recessive

Neuroendocrine cell hyperplasia of infancy

ORPHA:217560Kr.
Not applicable

Neuroendocrine neoplasm

ORPHA:877Kat.
Unknown

Neuroendocrine neoplasm of appendix

ORPHA:100079Kr.

Neuroendocrine tumor of anal canal

ORPHA:100082Kr.

Neuroendocrine tumor of pancreas

ORPHA:97253Kat.
Autosomal dominant, Not applicable

Neuroendocrine tumor of stomach

ORPHA:100075Kr.
Not applicable

Neuroendocrine tumor of the colon

ORPHA:100080Kr.

Neuroendocrine tumor of the rectum

ORPHA:100081Kr.

Neurofaciodigitorenal syndrome

ORPHA:2673Malf.

Neuroferritinopathy

ORPHA:157846Kr.
Autosomal dominant

Neurofibroma

ORPHA:252183Kr.

Neurofibromatosis type 1

ORPHA:636Kr.
Autosomal dominant

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

ORPHA:363700Ätl. subt.
Autosomal dominant

Neurofibromatosis-Noonan syndrome

ORPHA:638Malf.
Autosomal dominant

Neurogenic arthrogryposis multiplex congenita

ORPHA:1143Kr.
Autosomal recessive

Neurogenic scapuloperoneal syndrome, Kaeser type

ORPHA:85146Kr.
Autosomal dominant

Neurogenic thoracic outlet syndrome

ORPHA:100073Kl. subt.
Not applicable

Neuroleptic malignant syndrome

ORPHA:94093Kr.
Unknown

Neurometabolic disorder due to serine deficiency

ORPHA:35705Kat.

Neuromyelitis optica spectrum disorder

ORPHA:71211Kr.
Multigenic/multifactorial

Neuronal ceroid lipofuscinosis

ORPHA:216Kl. gruppe
Autosomal dominant, Autosomal recessive

Neuronal intestinal pseudoobstruction

ORPHA:99811Ätl. subt.
X-linked recessive