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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Malform.
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Malform.
Autosomal recessive

Neuroendocrine cell hyperplasia of infancy

ORPHA:217560Disease
Not applicable

Neuroendocrine neoplasm

ORPHA:877Cat.
Unknown

Neuroendocrine neoplasm of appendix

ORPHA:100079Disease

Neuroendocrine tumor of anal canal

ORPHA:100082Disease

Neuroendocrine tumor of pancreas

ORPHA:97253Cat.
Autosomal dominant, Not applicable

Neuroendocrine tumor of stomach

ORPHA:100075Disease
Not applicable

Neuroendocrine tumor of the colon

ORPHA:100080Disease

Neuroendocrine tumor of the rectum

ORPHA:100081Disease

Neurofaciodigitorenal syndrome

ORPHA:2673Malform.

Neuroferritinopathy

ORPHA:157846Disease
Autosomal dominant

Neurofibroma

ORPHA:252183Disease

Neurofibromatosis type 1

ORPHA:636Disease
Autosomal dominant

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

ORPHA:363700Etio. sub.
Autosomal dominant

Neurofibromatosis-Noonan syndrome

ORPHA:638Malform.
Autosomal dominant

Neurogenic arthrogryposis multiplex congenita

ORPHA:1143Disease
Autosomal recessive

Neurogenic scapuloperoneal syndrome, Kaeser type

ORPHA:85146Disease
Autosomal dominant

Neurogenic thoracic outlet syndrome

ORPHA:100073Clin. sub.
Not applicable

Neuroleptic malignant syndrome

ORPHA:94093Disease
Unknown

Neurometabolic disorder due to serine deficiency

ORPHA:35705Cat.

Neuromyelitis optica spectrum disorder

ORPHA:71211Disease
Multigenic/multifactorial

Neuronal ceroid lipofuscinosis

ORPHA:216Clin. grp.
Autosomal dominant, Autosomal recessive

Neuronal intestinal pseudoobstruction

ORPHA:99811Etio. sub.
X-linked recessive