Coenzyme Q10 deficiency disease is a rare health problem where the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a natural ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
San Joaquin Valley fever is another name for Valley fever, a lung infection caused by a fungus called Coccidioides. A fungus is a tiny living thing, like mold, ...
Primary extrapulmonary coccidioidomycosis is an infection caused by a fungus called Coccidioides that shows itself first outside the lungs, such as in the ...
Posadas-Wernicke disease is another name for coccidioidomycosis, also called valley fever. It is an infection caused by a fungus called Coccidioides that lives ...
Desert rheumatism is a group of symptoms that happen when a person’s body reacts strongly to a lung infection caused by a soil fungus called Coccidioides. ...
Desert fever is an infection caused by a tiny fungus that lives in dry, dusty soil in some parts of the Americas. When the soil is disturbed, the fungus breaks ...
Coccidioides Immitis Infectious Disease is a lung disease caused by a fungus that lives in dry soil in some parts of the Americas. When the soil is disturbed, ...
Coccidioides immitis disease is a fungal infection that doctors call coccidioidomycosis or “Valley fever.” It happens when tiny spores of the fungus ...
California disease is another name for coccidioidomycosis, also called Valley fever. It is an infection caused by a fungus called Coccidioides that lives in ...
Deficiency of methylcysteine synthase is another name for cystathionine beta-synthase (CBS) deficiency, also called classic homocystinuria. In this disease, a ...
Deficiency of beta-thionase is almost always talking about beta-ketothiolase deficiency, also called mitochondrial acetoacetyl-CoA thiolase deficiency or ACAT1 ...
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (also called galactose-1-phosphate uridylyltransferase, GALT) is a rare genetic ...
Deficiency of uridine diphosphate-glucose–hexose-1-phosphate uridylyltransferase means that the body is missing or has very low activity of an enzyme called ...
Deficiency of UDP-glucose–hexose-1-phosphate uridylyltransferase means the body is missing or has very low activity of an enzyme called galactose-1-phosphate ...
CIDEC-related familial partial lipodystrophy is a very rare inherited disease where body fat is not spread in a normal way. In this condition, fat under the ...
Chuvash erythrocytosis is a rare, inherited blood disease where the body makes too many red blood cells from birth and throughout life. It is caused by a ...
Chronic mucocutaneous candidiasis (CMC) is a long-lasting infection with Candida (a yeast or fungus) that keeps coming back on the skin, nails, and wet body ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Neonatal-onset multisystem inflammatory disease (NOMID) is a very rare genetic disease where the immune system is “over-active” from birth and causes strong, ...
Chronic diarrhea with villous atrophy means a person has loose or watery stools that last for more than four weeks, and a biopsy from the small intestine shows ...
Maltase-glucoamylase deficiency is a rare problem in the small intestine where the body cannot properly break down starch (long chains of glucose) into single ...
