Disease Index

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma

human disease

multisystem disease

medical condition

human disease

human disease

human disease

hormonal disorder sometimes resulting from adrenal gland removal

congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity

nemaline myopathy that has material basis in homozygous mutation in the TNNT1 gene on chromosome 19q13

medical condition

human disease

platelet-related disease affecting fetuses and infants, which can be fatal

human disease

human disease

human disease

human disease

It is a congenital form of diabetes

Human disease

human disease

human disease

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay

medical condition

Medical condition

Neurological dysfunction shortly after birth

medical condition

human disease

human disease

medical condition