Disease Index

Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia

autonomic nervous system neoplasm derived from immature nerve cells

Congenital disorder involving melanocytic tumours in the skin and brain

human disease

central nervous system disease

gene, encoding 3-hydroxyisobutyryl-CoA hydrolase; the mode of transmission has not yet been established.

neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia

human disease

neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12

neurodegeneration with brain iron accumulation that has material basis in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23

neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2

human disease

human disease

rare genetic disease

human disease

human disease

human disease

human disease

Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure

well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal

well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix

human disease

Human disease

Human disease

human diseases

human disease

medical condition

type of neurofibromatosis disease