Rare Disease Index

human disease

severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12

chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood

Rare T-cell lymphoma

slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood

medical condition

human disease

large vessel granulomatous vasculitis, massive intimal fibrosis and vascular narrowing.

sudden temporary weakening of the heart muscle

human disease

extremely rare inherited human disorder

genetic disorder

Tarlov cysts, also known as perineural cysts, are cerebrospinal fluid-filled sacs that form within the nerve root sheath, most commonly at the sacral level of the spine.

autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion

human disease

neurodegenerative disease caused by tau protein aggregates

This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.

Molar condition in which the root is relatively short

hearth disease

Human medical condition

extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency

human disease

human disease

human disease

human disease