Neurofibromatosis type I.

A disease of salmonid fish, caused by the myxosporean parasite Myxobolus cerebralis and characterised by awkward, corkscrew-like swimming motions.

A hypothetical megastructure in the form of a disk with a star located in a hole running through its axis, and massive enough to have its own atmosphere

A neoplastic skin disease, an early stage or intraepidermal form of squamous cell carcinoma.

spinal muscular atrophy

Synonym of Hashimoto-Pritzker syndrome

(medicine) An infection in humans caused by a group of enteroviruses, typically characterized by a mild fever followed by a rash of flat discoloured spots and bumps that may blister, most commonly on the hands, feet and mouth.

A very rare lysosomal storage disease marked by a deficiency in ceramidase that causes an accumulation of lipids, leading to abnormalities in the joints, liver, throat, tissues, and central nervous system.

Synonym of leontiasis ossea (now recognized as a symptom rather than a disease)

(medicine, medical genetics) Severe combined immunodeficiency (SCID), a genetic disorder resulting in extreme vulnerability to infectious diseases.