MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Мальф.
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Мальф.
Autosomal recessive

Neuroendocrine cell hyperplasia of infancy

ORPHA:217560Ауру
Not applicable

Neuroendocrine neoplasm

ORPHA:877Сан.
Unknown

Neuroendocrine neoplasm of appendix

ORPHA:100079Ауру

Neuroendocrine tumor of anal canal

ORPHA:100082Ауру

Neuroendocrine tumor of pancreas

ORPHA:97253Сан.
Autosomal dominant, Not applicable

Neuroendocrine tumor of stomach

ORPHA:100075Ауру
Not applicable

Neuroendocrine tumor of the colon

ORPHA:100080Ауру

Neuroendocrine tumor of the rectum

ORPHA:100081Ауру

Neurofaciodigitorenal syndrome

ORPHA:2673Мальф.

Neuroferritinopathy

ORPHA:157846Ауру
Autosomal dominant

Neurofibroma

ORPHA:252183Ауру

Neurofibromatosis type 1

ORPHA:636Ауру
Autosomal dominant

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

ORPHA:363700Этио. под.
Autosomal dominant

Neurofibromatosis-Noonan syndrome

ORPHA:638Мальф.
Autosomal dominant

Neurogenic arthrogryposis multiplex congenita

ORPHA:1143Ауру
Autosomal recessive

Neurogenic scapuloperoneal syndrome, Kaeser type

ORPHA:85146Ауру
Autosomal dominant

Neurogenic thoracic outlet syndrome

ORPHA:100073Клин. под.
Not applicable

Neuroleptic malignant syndrome

ORPHA:94093Ауру
Unknown

Neurometabolic disorder due to serine deficiency

ORPHA:35705Сан.

Neuromyelitis optica spectrum disorder

ORPHA:71211Ауру
Multigenic/multifactorial

Neuronal ceroid lipofuscinosis

ORPHA:216Клин. топ
Autosomal dominant, Autosomal recessive

Neuronal intestinal pseudoobstruction

ORPHA:99811Этио. под.
X-linked recessive