Disease Index

human disease

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure

chromosome abnormality with a distinct craniofacial phenotype and intellectual disability

congenital syndrome characterized by additional electrical pathways causing electrical conduction problems in the heart, leading to sporadic episodes of tachycardia and other symptoms.

A progressive neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). Caused by mutations in the WFS1 gene. Disease prevalence is approximately 1 in 500,000 individuals.

medical condition

autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia

Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair

medical condition

human disease

medical condition

Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking

hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate

Human disease

human disease

medical condition

human disease

human disease

human disease

medical condition

human disease

human disease

adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has material basis in the nuclear receptor NR0B1 (DAX1) gene

peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency

Alport syndrome that has material -basis in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5)

human disease