Rare Disease Library

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

Neurofibroma

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

NF-1 · NF1

Neurofibromatosis-Noonan syndrome

NFNS · Neurofibromatosis type 1-Noonan syndrome

Neurofibromatosis/schwannomatosis

NF/SWN

Neurogenic arthrogryposis multiplex congenita

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

Neuroleptic malignant syndrome

Neurological channelopathy of the central nervous system due to a genetic chloride channel defect

Neurological muscular channelopathy due to a genetic calcium channel defect

Neurological muscular channelopathy due to a genetic chloride channel defect

Neurological muscular channelopathy due to a genetic potassium channel defect

Neurological muscular channelopathy due to a genetic ryanodine receptor defect

Neurological muscular channelopathy due to a genetic sodium channel defect

Neurolymphomatosis

Neurometabolic disease

Neurometabolic disorder due to serine deficiency

Serine deficiency

Neuromuscular disease

Neuromuscular disease with dilated cardiomyopathy

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Neuronal intestinal pseudoobstruction

Neuronal intranuclear inclusion disease

Neuronal tumor

Neurooculocardiogenitourinary syndrome

NOCGUS · Neuro-oculo-cardio-genito-urinary syndrome

Neuropathy with hearing impairment

Neurotrophic keratopathy

Neurotrophic keratitis

Neurovascular malformation

Neutral lipid storage disease

Lipidosis with triglyceride storage disease

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

Neutral lipid storage disease with myopathy

Neutral lipid storage disease type M · NLSDM

Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

NEVADA syndrome

Nevus epidermicus verrucosus with angiodysplasia and aneurysms

Nevo syndrome

Cerebral gigantism, Nevo type

Nevus comedonicus syndrome

Nevus of Ito

Nevus fuscocaeruleus acromiodeltoideus

Nevus of Ota

Nevus fusculoceruleus ophthalmomaxillaris

New-onset refractory status epilepticus

NORSE

NFKB1-related immune dysregulation

Nuclear factor kappa B subunit 1-related immune dysregulation

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Nicolau syndrome

Embolia cutis medicamentosa · Livedo-like dermatitis

Niemann-Pick disease type C

Niemann-Pick disease type C, adult neurologic onset