Congenital atresia of colon means a baby is born with a part of the large intestine, also called the colon, closed, blocked, missing inside, or not joined in a ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital aortopulmonary septal defect is a very rare birth defect of the heart. It is also called an aortopulmonary window. In this condition, there is an ...
Congenital aortopulmonary artery fistula is a very rare heart blood vessel defect present from birth. In very simple words, it means there is an abnormal ...
Congenital aortopulmonary window is a rare heart defect present at birth. In this condition, there is an abnormal opening between the ascending aorta and the ...
Isolated congenital anosmia means a person is born with little or no sense of smell, and this problem is present from the start of life. The word isolated ...
Congenital anosmia means a person is born with no sense of smell. The smell loss is present from birth and usually lasts for life. In some people, it happens ...
Congenital analbuminemia is a very rare inherited disease in which the body makes almost no normal albumin, or makes an extremely tiny amount of it. Albumin is ...
Congenital amegakaryocytic thrombocytopenic purpura is more commonly called congenital amegakaryocytic thrombocytopenia, or CAMT. It is a very rare inherited ...
Amegakaryocytic thrombocytopenia is a rare blood disorder in which the bone marrow has very few or no megakaryocytes. Megakaryocytes are the large bone marrow ...
Congenital amegakaryocytic thrombocytopenia type 1 (CAMT-1) is a very rare inherited blood disease present from birth. In this condition the body cannot ...
Autoimmune thrombocytopenia–primary immunodeficiency syndrome means a person has very low platelets because the immune system is attacking their own platelets, ...
Autoimmune hemolytic anemia (AIHA) is a blood disorder where your immune system mistakenly makes antibodies that stick to your own red blood cells. These ...
Chronic mucocutaneous candidiasis (CMC) is a long-lasting tendency to get repeated or persistent Candida (yeast) infections of the mouth, throat, esophagus, ...
Autoimmune enteropathy and endocrinopathy – susceptibility to chronic infections syndrome is an extremely rare, inherited immune-system disorder. It happens ...
Severe immune-mediated enteropathy means the small intestine is badly inflamed or injured because the immune system is attacking or mis-controlling the lining ...
Immune-mediated protracted diarrhea of infancy means a baby has diarrhea that lasts for more than two weeks because the immune system is attacking or ...
Autoimmune enteropathy is a rare disease where the immune system attacks the lining of the small intestine. The attack makes the villi (tiny finger-like ...
Autoimmune encephalitis is brain inflammation caused by the body’s own immune system attacking healthy brain cells by mistake. “Autoimmune” means your immune ...
Psychogenic purpura is a very rare condition where painful, burning, or tender skin patches suddenly swell and then turn into dark bruises (ecchymoses) within ...
Painful bruising syndrome is a very rare condition where tender, burning or stinging skin patches suddenly appear and then turn into bruises (purpura) within ...
