Concentric sclerosis is a rare disease where the body’s immune system attacks the white matter (myelin) in the brain in a very special pattern—alternating ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Concentric demyelination means myelin (the insulation around nerve fibers) is lost in round, ring-like layers. On MRI and under the microscope, you see ...
Baló concentric sclerosis (BCS) is a very rare demyelinating disease. “Demyelinating” means the immune system strips the protective myelin coating from nerve ...
Baller–Gerold syndrome (BGS) is a very rare genetic condition in which some skull bones fuse too early (craniosynostosis) and the bones on the thumb-side of ...
Ciliary dysentery is a bowel infection caused by a large, single-cell parasite named Balantidium coli. It is the only ciliated protozoan known to infect ...
Balantidial dysentery is a bowel infection caused by a single-celled parasite called Balantidium coli (also written in newer papers as Balantioides coli; older ...
Balantidiasis is an infection of the large intestine caused by a single-celled parasite called Balantidium coli (also known in newer science papers as ...
Malignant Hyperthermia Syndrome is a dangerous reaction of the body’s skeletal muscles to some anesthesia medicines. In people who carry certain inherited ...
Congenital Myopathy–Cleft Palate–Malignant Hyperthermia Syndrome is a rare, inherited muscle disease starts at birth (congenital). Babies have weak muscles (a ...
Congenital myopathy 13 is a rare, inherited muscle condition that starts at birth. It is caused by changes (variants) in a single gene called STAC3. This gene ...
Bailey-Bloch congenital myopathy is a rare, inherited muscle disease that starts at birth. It mainly affects skeletal muscles (the muscles we use to move). ...
Bagatelle–Cassidy syndrome is an extremely rare condition first described in a single child in the medical literature. The main pattern includes a large head ...
Bacterial infectious meningitis is a rapidly dangerous illness where bacteria infect the meninges — the thin protective layers that cover the brain and spinal ...
Baby Rattle Pelvis Dysplasia is a very rare, severe skeletal disorder seen before birth or at birth. It was first described in the medical literature as a new, ...
Piroplasmosis, also called babesiosis, is an infection caused by tiny parasites that live inside red blood cells. These parasites are usually from the Babesia ...
Babesiosis is a disease caused by tiny parasites (called Babesia) that live inside red blood cells. These parasites are carried by black-legged ticks (also ...
Congenital disorder of glycosylation type 2d (CDG-IId) is an ultra-rare, inherited, multi-system metabolic disease caused by damaging variants in the B4GALT1 ...
Carbohydrate-Deficient Glycoprotein Syndrome Type 2d (CDG-IId) is a very rare inherited disease that affects how the body builds sugar chains (glycans) on ...
Beta-1,4-galactosyltransferase deficiency is a very rare, inherited metabolic disease. It belongs to a family of conditions called congenital disorders of ...
B4GALT1-CDGB4GALT1-CDG (Beta-1,4- Galactosyltransferase 1 Deficiency) is a very rare inherited condition in which the body cannot correctly attach certain ...
