Baroreflex Failure
Baroreflex failure is a disorder of the body’s automatic blood-pressure control system. In healthy people, pressure sensors (baroreceptors) in the carotid arteries and aorta send quick signals to the ...
Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Bardet–Biedl Syndrome (BBS) Caused by Mutation in the BBS5 Gene
Bardet–Biedl syndrome (BBS) is a rare, inherited condition that affects many parts of the body. It belongs to a family of disorders called ciliopathies. This means the main problem is in tiny cell ...
Bardet-Biedl Syndrome (BBS)
Bardet-Biedl syndrome (BBS) is a rare, inherited condition that affects many body systems because tiny cell parts called primary cilia do not work properly. Cilia act like cellular antennae; when ...
Bardet-Biedl Syndrome 11 (BBS11)
Bardet-Biedl syndrome 11 is a rare genetic disease. It affects many body systems. It happens when both copies of a gene called TRIM32 do not work properly. TRIM32 makes a protein that helps control ...
Bardet–Biedl Syndrome (BBS)
Bardet–Biedl syndrome (BBS) is a rare inherited condition that affects many body systems because tiny “hairs” on cells—called cilia—do not work properly. These cilia help cells sense signals and move ...
Banki Syndrome
Banki syndrome is a very rare bone condition. It affects how the small bones of the wrist and the bones of the hand grow and join. The most important feature is that two wrist bones—the lunate and ...
Bacterial Infectious Meningitis
Bacterial infectious meningitis is a rapidly dangerous illness where bacteria infect the meninges — the thin protective layers that cover the brain and spinal cord — and trigger swelling, pressure, ...
Baby Rattle Pelvis Dysplasia
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, lethal skeletal dysplasia with special ...
Piroplasmosis
Piroplasmosis, also called babesiosis, is an infection caused by tiny parasites that live inside red blood cells. These parasites are usually from the Babesia group. When they invade red blood cells, ...
Babesiosis
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 called deer ticks). When an infected tick ...
Congenital Disorder of Glycosylation Type IId (B4GALT1-CDG)
Congenital disorder of glycosylation type 2d (CDG-IId) is an ultra-rare, inherited, multi-system metabolic disease caused by damaging variants in the B4GALT1 gene, which encodes the Golgi enzyme ...
Carbohydrate-Deficient Glycoprotein Syndrome Type 2d (CDG-IId)
Carbohydrate-Deficient Glycoprotein Syndrome Type 2d (CDG-IId) is a very rare inherited disease that affects how the body builds sugar chains (glycans) on proteins. The B4GALT1 gene makes an enzyme ...
Beta-1,4-Galactosyltransferase Deficiency (B4GALT1-CDG)
Beta-1,4-galactosyltransferase deficiency is a very rare, inherited metabolic disease. It belongs to a family of conditions called congenital disorders of glycosylation (CDG). In CDG, the body cannot ...
B4GALT1-CDG (Beta-1,4- Galactosyltransferase 1 Deficiency)
B4GALT1-CDGB4GALT1-CDG (Beta-1,4- Galactosyltransferase 1 Deficiency) is a very rare inherited condition in which the body cannot correctly attach certain sugar chains (called glycans) to proteins. ...
B4GALT1-Congenital Disorder of Glycosylation (B4GALT1-CDG)
B4GALT1-Congenital Disorder of Glycosylation (B4GALT1-CDG) is a very rare inherited condition that changes the way the body adds sugar chains to proteins (a process called glycosylation). The B4GALT1 ...
Russell–Weaver–Bull Syndrome
Russell–Weaver–Bull syndrome” is an older eponym for what modern sources call the axial mesodermal dysplasia spectrum (AMDS)—a pattern of birth differences that combine features from ...
Blastogenesis Defect (Impaired Lymphocyte Proliferation)
A “blastogenesis defect” means your white blood cells—especially T-lymphocytes—do not “wake up,” grow bigger, and multiply as they should when they meet a stimulant (like a mitogen or a recall ...
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike TypePAM16
Spondylometaphyseal dysplasia, Mégarbané–Dagher–Melki type, is a very rare genetic bone disorder. It affects the spine (spondylo-), the ends of long bones (metaphyses), and overall body growth. ...
PAM16 – Spondylodysplastic Dysplasia
PAM16 spondylodysplastic dysplasia is a rare, inherited skeletal disorder caused by harmful (“pathogenic”) changes in a gene called PAM16. PAM16 encodes a small protein (also called MAGMAS or TIM16) ...
Intellectual Disability, Coarse Face, Macrocephaly, Cerebellar Hypotrophy Syndrome
Intellectual Disability, Coarse Face, Macrocephaly, Cerebellar Hypotrophy Syndrome appear together, doctors consider a group of rare neurogenetic conditions. Some children have a named syndrome; ...
