Clear cell adenocarcinoma of the kidney is the same disease that doctors usually call clear cell renal cell carcinoma (clear cell RCC). It is a type of kidney ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Clear cell carcinoma of the kidney is a cancer that starts in the tiny tubules of the kidney that filter blood and make urine. Doctors also call it clear cell ...
Classic multiminicore myopathy is a rare inherited muscle disease that starts very early in life and stays for the whole lifetime. It belongs to a group of ...
4-layered lissencephaly is a “smooth brain” condition where the outer part of the brain (the cerebral cortex) does not form normal folds (gyri) and grooves ...
Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood ...
Classic lissencephaly (also called type 1 lissencephaly) is a rare brain problem that starts before birth, when the baby is still in the womb. In this ...
Hyperhomocysteinemic syndrome means a person has too much homocysteine in the blood, usually above about 15 micromoles per liter (µmol/L). Homocysteine is a ...
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare genetic disease where the body cannot properly break down the amino acid ...
Homocystinuria caused by cystathionine beta-synthase deficiency is a rare genetic disease. In this condition, the body cannot use an amino acid called ...
Deficiency of serine sulfhydrase means that a special body enzyme called cystathionine-beta-synthase (CBS) does not work properly or is missing. This enzyme ...
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 ...
Classic homocystinuria is a rare genetic disease where the body cannot break down an amino acid called homocysteine properly because an enzyme named ...
Transferase deficiency galactosemia type 1 (often called classic galactosemia) is a rare genetic disease where the body cannot properly break down a milk sugar ...
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 ...
Deficiency of hexose-1-phosphate uridylyltransferase means that the body has very low or no activity of an enzyme called galactose-1-phosphate ...
Deficiency of galactose-1-phosphate uridyl transferase (usually written GALT deficiency) is a genetic disease where the body is missing, or has very low ...
Classic galactosemia is a rare genetic disease that affects how the body uses a sugar called galactose, which is found in milk and many milk-based foods. In ...
Familial polyposis coli is a rare inherited disease of the large intestine (colon) and rectum. In this disease, hundreds or even thousands of small growths ...
Familial multiple polyposis syndrome is another name for familial adenomatous polyposis (FAP). It is a rare, inherited disease where a person grows many small ...
Familial intestinal polyposis usually means a condition called familial adenomatous polyposis (FAP). It is an inherited disease where hundreds to thousands of ...
Colorectal adenomatous polyposis is a condition where many small growths called adenomatous polyps develop inside the large bowel (colon) and rectum. These ...
Adenomatous polyposis of the colon usually refers to familial adenomatous polyposis (FAP), a genetic condition where hundreds to thousands of small growths ...
Adenomatous polyposis is a health problem where many small growths, called adenomatous polyps, grow in the inner lining of the large intestine (colon) and ...
Classic familial adenomatous polyposis is an inherited disease where a person grows hundreds to thousands of small growths, called polyps, inside the large ...
21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol ...
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a genetic disease that affects the adrenal glands, which are small organs that ...
Autosomal dominant intellectual disability 49 is a very rare genetic brain-development problem. It is also called Clark-Baraitser syndrome and is caused by a ...
Clark-Baraitser syndrome (often shortened to CLABARS) is a very rare genetic condition that affects how a child’s brain, body growth, and face develop. ...
Asymmetry of the face and limbs with overgrowth means that one side of the body, or one part such as an arm, leg or part of the face, grows larger than the ...
A lymphatic malformation of the face and neck is a soft, spongy swelling made from lymph vessels that grew in an abnormal way before birth. These vessels form ...
Capillary malformation of the lower lip is a birthmark made from many tiny blood vessels (capillaries) just under the skin of the lower lip. Doctors often call ...
CLAPO syndrome is a very rare health condition that mostly affects the skin, blood vessels, lymph vessels, and the growth of some body parts. The name “CLAPO” ...
X-linked intellectual disability–microcephaly–cortical malformation–thin habitus syndrome is a very rare genetic disease that mainly affects boys. Doctors also ...
CK syndrome is a very rare genetic brain and body disorder that mainly affects boys and starts in early life. It is an X-linked recessive condition, which ...
Adult-onset citrin deficiency is a rare, lifelong genetic disease that mainly affects the liver and the brain. In this condition, a gene called SLC25A13 does ...
Citrullinemia type II is a rare inherited disease in which the liver cannot use a substance called citrin properly, so ammonia and some amino acids build up in ...
Argininosuccinate synthetase deficiency (ASS1 deficiency) is a rare, inherited disease of the urea cycle. The urea cycle is the process in the liver that ...
Argininosuccinate synthase 1–gene related citrullinemia type I is a rare, serious genetic disease of the urea cycle. In this disease the ASS1 gene does not ...
Citrullinemia type I is a rare inherited disease of the urea cycle, which is the process in the liver that removes extra nitrogen from the body. In this ...
Dystonia-parkinsonism-hypermanganesemia-polycythemia and chronic liver disease is a very rare inherited disease. In this condition, a gene called SLC30A10 does ...
Cirrhosis–dystonia–polycythemia–hypermanganesemia syndrome is a very rare genetic disease where the body cannot properly remove extra manganese, a metal that ...
Ciliary dyskinesia with transposition of ciliary microtubules is a rare genetic problem that affects tiny hair-like structures in the body called cilia. Cilia ...
Familial partial lipodystrophy type 5 (FPLD5) is a very rare genetic disease where fat under the skin (subcutaneous fat) is lost from some parts of the body ...
Cell Death-Inducing DFFA-Like Effector C–related Familial Partial Lipodystrophy (CIDEC-related FPLD)
Cell death-inducing DFFA-like effector C–related familial partial lipodystrophy (CIDEC-related FPLD) is a very rare inherited disease where a change (mutation) ...
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 ...
Chyloperitoneum means that lymph fluid called chyle leaks into the space inside the belly (the peritoneal cavity). This chyle is milky and rich in fat ...
Chylous ascites is a rare type of fluid build-up in the belly (abdomen). In this condition, a milky fluid called chyle leaks into the space around the ...
“Anderson syndrome” in most modern medical books means Andersen–Tawil syndrome, a very rare genetic disease that affects the heart rhythm, the muscles, and the ...
Anderson disease is another name for chylomicron retention disease (CMRD), a very rare, inherited problem where the small intestine cannot properly release fat ...
Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood ...
Von Hippel-Lindau-dependent polycythemia is a very rare blood disease where the body makes too many red blood cells because of a change (mutation) in the VHL ...
Familial polycythemia caused by mutation in the VHL gene is a rare genetic blood disease where a person is born with too many red blood cells because their ...
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 ...
Autosomal recessive benign erythrocytosis is a rare inherited blood disease. It means the body makes too many red blood cells from birth or early life. ...
Chuvash polycythemia is a rare blood disease that you are born with. In this condition, the body makes too many red blood cells even when oxygen levels are ...
Chudley-McCullough syndrome (often shortened to CMS or CMCS) is a very rare genetic condition. It mainly causes strong hearing loss in both ears and special ...
Chronic thromboembolic pulmonary hypertension (CTEPH) is a long-term form of high blood pressure in the lung arteries that develops when old blood clots do not ...
Chronic respiratory distress with surfactant metabolism deficiency is a rare lung disease that mainly affects babies and children. In this disease, the lungs ...
Chronic neutrophilic leukemia is a very rare blood cancer. It starts from the bone marrow, where blood cells are made. In this disease, the body makes too many ...
Chronic myelomonocytic leukemia, often called CMML, is a rare blood cancer that starts in the bone marrow, the soft center of the bones where new blood cells ...
Chronic myelomonocytic leukemia (CMML) is a rare type of blood cancer. It starts in the bone marrow, which is the soft inner part of the bones where new blood ...
Leukemia Philadelphia chromosome–positive (often written “Ph-positive” or “Ph+”) means a blood cancer where the leukemia cells carry a special broken ...
Hematopoietic chronic myelocytic leukemia is another way to describe chronic myeloid (myelogenous) leukemia, often shortened to CML. “Hematopoietic” means it ...
Familial chronic myelocytic leukemia (familial CML) is a blood cancer that starts in the bone marrow, the soft center of the bones where blood cells are made. ...
Chronic myeloid leukemia (CML), also called chronic myelogenous leukemia, is a blood cancer that starts in the bone marrow stem cells. A special change ...
Chronic myelogenous leukemia (CML) is a type of blood cancer that starts in the bone marrow, where blood cells are made. In CML, the bone marrow makes too many ...
Chronic myelocytic leukemia (CML) is a cancer of the blood and bone marrow, the soft part inside your bones that makes blood cells. In CML, a change (mutation) ...
Chronic granulocytic leukemia (CGL) is an older name for chronic myeloid leukemia (CML), a blood cancer that starts from the bone marrow cells that make white ...
BCR-ABL positive chronic myelogenous leukemia (CML) is a blood cancer that starts in the bone marrow, where new blood cells are made. In CML, a piece of ...
Chronic myelogenous leukemia, BCR-ABL1 positive (often called chronic myeloid leukemia or CML) is a blood cancer where the bone marrow makes too many white ...
Chronic multifocal osteomyelitis is a long-lasting inflammation of several bones that comes and goes over time. It usually happens in children and teenagers, ...
Chronic mucocutaneous candidiasis (CMC) is a rare immune system disorder where the body cannot properly fight Candida (yeast) infections on the skin, nails, ...
Chronic candidiasis of the mucosa, skin, and nails is a long-lasting or repeatedly returning yeast infection caused most often by Candida (especially Candida ...
Alpha-thalassemia–myelodysplastic syndrome (ATMDS)—also called acquired alpha-thalassemia with MDS, acquired HbH disease in MDS, or acquired α-thalassemia ...
Schindler disease type 3 is a very rare inherited condition. It happens when the body does not make enough of a lysosomal enzyme called ...
Alpha-N-acetylgalactosaminidase deficiency (often shortened to NAGA deficiency) is a very rare, inherited (passed from parents to children) condition. The body ...
Schindler disease type 2 is a very rare inherited (passed from parents) condition. It happens because the body does not make enough of an enzyme called ...
Kanzaki disease is a very rare inherited condition. It happens when the body does not have enough working of an enzyme called alpha-N-acetylgalactosaminidase ...
Adult-onset alpha-N-acetylgalactosaminidase deficiency is a very rare inherited (genetic) condition. In this condition, a body enzyme called ...
Alpha-N-acetylgalactosaminidase deficiency is a rare genetic condition in which the body does not make enough of an enzyme called ...
Alpha-N-acetylgalactosaminidase deficiency type 1 is a very rare, inherited (from both parents) disease of the body’s “recycling centers,” called lysosomes. In ...
Schindler disease is a very rare inherited (genetic) condition. People with this disorder do not have enough of an enzyme called ...
NAGA deficiency is a very rare inherited disease where the body does not make enough of an enzyme called alpha-N-acetylgalactosaminidase (often shortened to ...
Alpha-N-acetylgalactosaminidase—often shortened to alpha-NAGA—is a small worker-enzyme that lives inside the cell’s “recycling centers,” which are called ...
Alpha-N-acetylgalactosaminidase deficiency is a very rare inherited (runs in families) disease. It happens when the body does not make enough of one cleaning ...
Mannosidosis is a rare genetic disease. It belongs to a group called lysosomal storage disorders. Lysosomes are tiny recycling centers inside our cells. They ...
Alpha-mannosidosis is a rare, inherited disease. A child is born with it when both parents pass down a changed copy of a gene called MAN2B1. This gene makes an ...
Alpha-mannosidase deficiency—also called alpha-mannosidosis—is a rare inherited disease. It happens when the body does not make enough of an enzyme called ...
Dysostosis is a group of birth conditions that affect how certain bones form and join. The problem starts very early in pregnancy when the baby’s skeleton is ...
Alpha-D-mannosidosis is a rare, inherited, metabolic disease. It happens when the body does not make enough of an enzyme called lysosomal alpha-mannosidase. ...
Alpha-mannosidosis is a rare, inherited metabolic disease. It happens because the body does not make enough of an enzyme called lysosomal alpha-mannosidase. ...
Antiplasmin deficiency is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and then slowly dissolve when healing is done. A protein ...
Alpha-2-plasmin inhibitor deficiency (also written as α2-antiplasmin deficiency) is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and ...
Alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare, inherited condition that mainly affects boys. It causes intellectual disability, slow ...
Alpha thalassemia–X-linked intellectual disability syndrome, often shortened to ATR-X syndrome, is a rare genetic condition that mostly affects boys. It is ...
Alpha-thalassemia–intellectual disability syndrome linked to chromosome 16—often shortened to ATR-16—is a rare genetic condition caused by losing a piece from ...
Alpha-thalassemia–intellectual disability syndromes (ATR-X syndrome) is a rare genetic condition that mostly affects boys and men. It is caused by changes ...
Alpha thalassemia-intellectual disability syndrome—often shortened to ATR-X syndrome—is a rare genetic condition that mainly affects boys. It combines two core ...
Alpha thalassemia is a group of inherited blood disorders. They happen when the body cannot make enough alpha globin, a protein that helps build hemoglobin. ...
Hemorrhagic diathesis due to antithrombin Pittsburgh is a very rare bleeding disorder caused by a special change (mutation) in the alpha-1 antitrypsin (AAT) ...
Emphysema–cirrhosis due to AAT deficiency is a genetic condition where a person is born with too little working alpha-1 antitrypsin (AAT) protein. AAT is made ...
Emphysema is a lung problem where the tiny air sacs (alveoli) break down and lose their walls. The lungs become loose and over-inflated. Air gets trapped, and ...
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition. Your liver makes too little of a protective protein called alpha-1 antitrypsin (AAT), or it ...
Devriendt-Vandenberghe-Fryns (DVF) syndrome is a very rare genetic condition first described in two brothers. It combines three main features: (1) complete ...
Alopecia–intellectual disability–hypergonadotropic hypogonadism (AIHH) syndrome is a very rare genetic condition. Babies are usually born with total hair loss ...
Alopecia-intellectual disability syndrome 2 is a very rare genetic condition. It affects hair growth and brain development. People usually have little or no ...
Shokeir syndrome is a rare and often lethal condition that starts before birth. Babies move very little in the womb (called fetal akinesia). Because of the ...
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability syndrome is a very rare inherited condition. People are born with no hair on the scalp and body (permanent, ...
Alopecia universalis is a severe form of alopecia areata. The immune system attacks hair follicles. Hair falls out from the whole body. That means scalp hair, ...
