Rare Disease Intelligence

Isolated splenic vein thrombosis is a vascular condition affecting the vein that drains blood from the spleen. This condition involves the formation o...

Isolated thyroid-stimulating hormone deficiency is a form of central congenital hypothyroidism that is present from birth and results from an inabilit...

Isolated thyrotropin-releasing hormone deficiency is a form of hypothalamic hypothyroidism that results from reduced secretion of thyrotropin-releasin...

Isolated tracheo-esophageal fistula is a rare congenital condition. It is characterized by an abnormal connection between the esophagus and the trache...

Isosporiasis is an intestinal infection caused by the parasite Isospora belli. It primarily affects the gastrointestinal tract and can lead to symptom...

Isotretinoin syndrome, also known as isotretinoin embryopathy, is a condition characterized by a spectrum of severe congenital malformations affecting...

Isotretinoin-like syndrome is a condition that mirrors the features seen in isotretinoin embryopathy, presenting as a phenocopy of that embryopathy. I...

Isovaleric acidemia is an inherited metabolic disorder classified as an organic aciduria that primarily results from a deficiency in the enzyme isoval...

Janus kinase-3 deficiency is a severe immunodeficiency disorder characterized by a near absence of T lymphocytes and natural killer cells, while B lym...

Jaw cancer is a malignant neoplasm that involves the jaw skeleton and is grouped among head and neck cancers. The exact genetic basis is not yet defin...

Jaw-winking syndrome, also known as Marcus Gunn phenomenon, is a condition characterized by ptosis in association with abnormal eyelid movement that o...

Jejunal adenocarcinoma is a malignant tumor that originates in the lining of the jejunum, a part of the small intestine. It is characterized as an ade...

Jejunal cancer is a malignancy affecting the jejunum, a part of the small intestine that plays a key role in digestion. This type of cancer is conside...