MedGen

Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia and distal sensorimotor axonal neuropathy. Gaze nystagmus and dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation in the hands and feet become impaired; vibration sense is lost in hands and lower thighs. Individuals with advanced disease develop a steppage gait and pes cavus and eventually become wheelchair dependent. Cognitive dysfunction – present in some – manifests as mild intellectual disability and poor executive function. To date only seven affected individuals have been described from three apparently unrelated consanguineous families (one from Saudi Arabia and two from Oman); therefore, it is likely that the full phenotypic spectrum of this disorder is not yet known. [from GeneReviews]

A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. [from HPO]

Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. [from MONDO]

Inflammation of the colon that is characterized by the presence of granulomas. [from NCI]

Inflammatory bowel disease is a systemic disorder comprised of two major disorders: ulcerative colitis and Crohn disease. Crohn disease can affect any part of the digestive system while ulcerative colitis is confined to the colon. Both disorders may affect sites outside of the digestive system [from SNOMEDCT_US]

An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3 [from MONDO]

An inflammatory bowel disease that has material basis in variation in the chromosome 20q13. [from MONDO]

An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32. [from MONDO]