Charcot-Marie-Tooth disease caused by mutation in YARS is a very rare, inherited nerve disease that damages the long nerves to the feet, legs, hands, and arms. ...
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (often shortened to AD-CMTD type C or CMTDIC) is a rare inherited nerve disease. It mainly ...
Charcot-Marie-Tooth disease dominant intermediate C (often shortened to DI-CMT C) is a very rare inherited nerve disease that slowly damages the long nerves of ...
Charcot-Marie-Tooth neuropathy, dominant intermediate B (often shortened to CMTDIB) is a very rare inherited nerve disease that mainly affects the long nerves ...
Charcot-Marie-Tooth disease, axonal type 2M (CMT2M), is a very rare inherited nerve disease that mainly damages the long “wires” of the body called peripheral ...
Charcot-Marie-Tooth disease dominant intermediate type B (often shortened to CMT-DIB) is a very rare, inherited nerve disease. It mainly affects the peripheral ...
Charcot-Marie-Tooth disease dominant intermediate 1 (CMTDI1) is a very rare inherited nerve disease that mainly affects the arms and legs. In this condition, ...
Charcot-Marie-Tooth disease caused by mutation in DNM2 is a rare, inherited nerve disease that slowly damages the long nerves of the arms and legs. These ...
Charcot-Marie-Tooth disease dominant intermediate B (often shortened to CMTDIB or DI-CMTB) is a very rare inherited nerve disease. It mainly damages the ...
Charcot-Marie-Tooth neuropathy type 2Z (CMT2Z) is a rare inherited nerve disease that mainly damages the long nerves of the legs and arms (peripheral nerves). ...
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation is a rare inherited nerve disease that mainly damages the long “wires” (axons) of ...
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z (CMT2Z) is a rare hereditary nerve disease caused by harmful changes in the MORC2 gene. It mainly ...
Charcot-Marie-Tooth disease axonal type 2Z (CMT2Z) is a rare inherited nerve disease. It mainly damages the long nerves in the arms and legs (peripheral ...
Charcot-Marie-Tooth neuropathy type 2X (often grouped under X-linked Charcot-Marie-Tooth disease, or CMTX) is a rare inherited nerve disease that mainly ...
Charcot-Marie-Tooth disease caused by mutation in SPG11 is a very rare, inherited nerve disease. Doctors also call it autosomal recessive Charcot-Marie-Tooth ...
Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation (often called CMT2X due to SPG11) is a very rare inherited nerve disease that ...
Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (spatacsin) mutation is a very rare inherited nerve disease. It mainly damages the long ...
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2X (often written CMT2X or AR-CMT2X) is a rare inherited nerve disease where the long nerves in the ...
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (also called cerebellar hypoplasia–tapetoretinal degeneration syndrome) is a very ...
Cerebellar hypoplasia–tapetoretinal degeneration syndrome is a very rare condition where two main body parts are affected from early life: the cerebellum (a ...
Non-progressive cerebellar ataxia with intellectual disability is a rare genetic brain condition. It mainly affects the cerebellum, the part of the brain that ...
CAMTA1-related disorder is a rare genetic (inherited) brain condition caused by a harmful change (pathogenic variant) in the CAMTA1 gene, which is active in ...
Cerebellar dysfunction with variable cognitive and behavioral abnormalities is a brain condition where the cerebellum (the “coordination center” at the back of ...
Progressive cerebellar ataxia with hypogonadism is a very rare genetic brain and hormone disorder. It mainly affects the cerebellum (the part of the brain that ...
Luteinizing hormone-releasing hormone (LHRH) is the older name for gonadotropin-releasing hormone (GnRH). GnRH is made in the hypothalamus (a small control ...
Gordon-Holmes syndrome is a rare inherited condition where two big problems happen together: (1) the brain’s balance center (the cerebellum) slowly stops ...
Cerebellar ataxia with hypogonadotropic hypogonadism means two main problems happen together. First, cerebellar ataxia: the cerebellum is the “balance and ...
Cerebellar ataxia–hypogonadism syndrome is a rare, usually inherited condition where a person has cerebellar ataxia (poor balance and poor coordination because ...
Carbohydrate-deficient glycoprotein syndrome type IIo is now usually called Congenital Disorder of Glycosylation, type IIo (CDG-IIo) or CDG2O. It is a rare ...
CCDC115-CDG is a very rare inherited disorder where the body cannot “decorate” many proteins with sugar chains in the normal way (this process is called ...
Noonan syndrome-like disorder without juvenile myelomonocytic leukemia is a rare genetic condition where a person looks and develops in a way that is similar ...
Noonan syndrome is a genetic condition you are born with. It can change how the body grows and how some organs form, especially the heart, the face, the bones, ...
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia (JMML) is a rare inherited condition where a child can look like they have Noonan syndrome ...
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (JMML) is a rare genetic condition that looks like Noonan syndrome and also raises the risk ...
CBL-related disorder is a rare genetic condition caused by a harmful change (pathogenic variant) in the CBL gene. Many people with it look similar to Noonan ...
Cayman cerebellar ataxia (also called cerebellar ataxia, Cayman type) is a rare genetic (inherited) brain condition that usually starts from birth or early ...
Cayman type cerebellar ataxia (often shortened to “Cayman ataxia”) is a rare inherited brain development condition that starts from birth or very early ...
Tracheopulmonary myiasis means fly larvae (maggots) live inside the breathing tubes or lungs. The larvae may be in the trachea (windpipe), bronchi (main ...
Intestinal myiasis is a condition where fly larvae (maggots) are inside the stomach or intestines for a short time and may be passed out in stool. Most often, ...
Ophthalmomyiasis (also called ocular myiasis) means fly larvae (maggots) get into or onto the eye area. The larvae can stay on the surface (like the ...
Cerebral myiasis means fly larvae (maggots) infest tissue in or around the brain. It is extremely rare. In most reported cases, larvae get access through an ...
Urogenital myiasis (also called genitourinary myiasis) is a rare condition where fly larvae (immature flies) are found in or near the urinary or genital area, ...
Oral myiasis is an infection in the mouth caused by the larvae (baby stage) of certain flies. These tiny larvae live in soft tissues of the mouth, such as the ...
Nasal myiasis is a condition where fly larvae (maggots) live and grow inside the nose or nearby sinuses. The flies lay eggs around the nostrils or in nasal ...
Aural myiasis (also called otomyiasis) means fly larvae (maggots) are living in the ear canal, and sometimes they can reach the middle ear if the eardrum is ...
Cavitary myiasis is a parasitic disease where fly larvae (maggots) live and grow inside natural body openings instead of on the skin surface. These openings ...
Macrocystic lymphatic malformation (macrocystic LM) is a type of lymphatic malformation, which means it is an abnormal cluster of lymph vessels and ...
Macrocystic lymphangioma is an old name for a macrocystic lymphatic malformation. It is a benign (non-cancerous) lump made of many large, fluid-filled spaces ...
A cavernous lymphatic malformation (CLM) is a slow-flow vascular malformation made of abnormally formed lymphatic channels and cyst-like spaces (often many ...
Cavernous lymphangioma is a benign (non-cancer) growth made of abnormally wide lymphatic vessels deep in the skin and soft tissues. It belongs to the family of ...
Sacral agenesis syndrome is a rare birth condition where the lowest part of the spine (the sacrum and often the coccyx and lower lumbar vertebrae) does not ...
Caudal dysplasia sequence (also called caudal regression syndrome) is a rare birth condition in which the lower part of the baby’s body does not form normally ...
Caudal dysgenesis syndrome (CDS) is a rare birth defect where the lower part of the baby’s spine and nearby organs do not form in the usual way during very ...
Caudal regression sequence is a rare birth condition where the lower part of a baby’s spine and nearby organs do not form completely in the womb. It mainly ...
Split notochord syndrome (SNS) is a very rare birth defect that affects the early “midline” of the baby’s body, especially the spine, spinal cord, and nearby ...
Dipygus is an extremely rare birth defect where the lower part of the body is partly or completely doubled, usually with two pelvises and extra legs that grow ...
Cataract 46 juvenile-onset is a rare inherited eye disease where the clear lens inside the eye slowly becomes cloudy in childhood, usually between about 3 and ...
CPT1A disorder (also called CPT I deficiency) is a genetic problem with fat burning. The CPT1A enzyme sits on the outer wall of the mitochondria in liver and ...
CPT1A (Carnitine Palmitoyltransferase I-A) Deficiency is a genetic disorder in which the liver enzyme CPT1A does not work well. This enzyme sits on the outer ...
Carnitine palmitoyltransferase type I deficiency is a rare, inherited problem of energy use. The body needs to burn long-chain fats to make energy during ...
Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency is a rare, inherited metabolic disorder that blocks the body from using certain fats (long-chain fatty ...
Carnitine Palmitoyltransferase 1A (CPT1A) deficiency is a rare, inherited metabolic disorder that blocks the body from using certain fats (long-chain fatty ...
Carnitine palmitoyltransferase deficiency type 1 is a rare, inherited problem with how the body turns long-chain fats into energy. The problem sits at the ...
CPT1A deficiencyCarnitine Palmitoyltransferase 1A (CPT1A) Deficiency is a rare, inherited problem with fat breakdown. The body normally turns long-chain fats ...
Necrotizing ulcerative stomatitis is a severe mouth infection. The soft lining of the mouth dies in patches, and deep ulcers form. These ulcers can cut across ...
Gangrenous stomatitis—better known today as noma or cancrum oris—is a fast-moving infection that destroys the gums, cheeks, lips, and sometimes the nose and ...
Cancrum oris, also called noma, is a very fast, severe infection that eats the mouth and face. It usually starts inside the mouth as sore, swollen gums. In a ...
Reactive Airways Dysfunction Syndrome (RADS) is an asthma-like illness that starts suddenly after one accidental, very high exposure to an irritating gas, ...
“Stripper’s asthma” is an old nickname doctors once used for a lung problem in textile mills. It referred to workers called “strippers” who cleaned or ...
Mill fever is a short-term illness that happens after breathing a lot of textile plant dust, especially in cotton, flax, hemp, jute, or similar fiber mills. ...
Flax-dressers’ disease is a breathing problem caused by regularly inhaling flax plant dust while preparing or processing flax fibers. The very small dust ...
Cotton-dust asthma is breathing trouble caused by inhaling tiny dust particles from raw cotton and other plant fibers (like flax or hemp) in mills, gins, and ...
Cotton workers’ lung disease—also called byssinosis—is a lung problem caused by breathing in dust from cotton, flax, or hemp during processing in mills and ...
Cotton mill fever is a short-lasting, flu-like illness that happens after breathing a large amount of cotton dust, usually inside textile mills. People feel ...
Cotton Dust Pneumoconiosis (Byssinosis) is a lung disease caused by breathing cotton dust (and sometimes flax, hemp, or jute dust) in textile work. The dust ...
Byssinosis is a lung disease caused by breathing in dust from natural plant fibers at work. The dust most often comes from cotton. It can also come from flax ...
Benzoylcholinesterase (also called pseudocholinesterase or butyrylcholinesterase) is an enzyme made in the liver and released into your blood. Its job is to ...
Post-anesthetic apnea due to BCHE deficiency means a person has a much slower breakdown of certain anesthesia muscle-relaxing drugs—mainly succinylcholine ...
Butyrylcholinesterase (BChE) deficiency—also called pseudocholinesterase deficiency—is a condition in which the blood enzyme that breaks down certain ...
Butterfly-shaped pigmentary macular dystrophy (often shortened to “butterfly-shaped pattern dystrophy”) is a rare, inherited eye condition. It affects the ...
Butterfly-shaped pattern dystrophy is a rare, inherited eye condition that mainly affects the macula, the sharp-vision center of the retina. In this condition, ...
Butterfly-shaped pigment dystrophy is a rare, inherited macular condition in which pigment and waste material (mainly lipofuscin) build up in the retinal ...
To speed up a WordPress (WP) site, you need a combination of a solid foundation (hosting, theme) and optimization techniques ...
Ventilator lung in newborns means damage to a baby’s lungs caused or worsened by mechanical breathing support. The ventilator can save life, but if pressures, ...
Perinatal bronchopulmonary dysplasia is a long-lasting lung disease that begins around birth in very small or very early babies. The air sacs and small airways ...
Chronic lung disease of prematurity means a baby born very early has lungs that are not fully developed and get injured after birth. The lungs do not make ...
Bronchopulmonary dysplasia (BPD) is a long-lasting lung problem that affects some premature babies. It happens when a baby is born early and the lungs are ...
A congenital bronchial (bronchogenic) cyst is a fluid-filled pocket that forms before birth from an early mistake when the baby’s windpipe and airways are ...
A bronchogenic cyst is a congenital (born-with) fluid-filled pocket that develops when the early foregut (the tissue that becomes the airway) buds abnormally ...
Organizing pneumonia is a type of lung injury and repair. The tiny air sacs in the lung (the alveoli) and the small tubes that lead into them get damaged by ...
Constrictive bronchiolitis—also called bronchiolitis obliterans—is a chronic disease of the small airways (the tiniest breathing tubes). In this condition, the ...
Bronchiolitis obliterans syndrome is the name lung-transplant and blood stem-cell transplant teams use for a specific pattern of chronic, progressive ...
Bronchiolitis fibrosa obliterans (also called bronchiolitis obliterans / obliterative or constrictive bronchiolitis) is a chronic lung disease that scars and ...
Difficulty seeing moving objects means a person can see still things fairly well, but when things move, they are hard to detect, follow, or judge. Some people ...
Bradyopsia means “slow vision.” People with this condition have very slow adjustment when light changes. When they come out of a dark room into bright light, ...
“Abnormal ears” means the ears look different from the usual shape or position, or parts inside the ear did not form normally. This can involve the outer ear ...
VATER-like syndrome refers to a pattern of birth differences that tend to appear together. Doctors first used the shorter name VATER for: Vertebral defects, ...
Braddock syndrome is a very rare birth-defect condition. It was first described in two siblings. Babies have a VACTERL-like association of multiple anomalies. ...
Botryoid rhabdomyosarcoma (also called sarcoma botryoides) is a cancer that grows from very early cells that can become skeletal muscle. It is a special ...
Västerbotten dystrophy is a rare inherited eye disease that damages the retina and gradually reduces vision. It usually begins in childhood with night ...
Bothnia retinal dystrophy (BRD) is a rare, inherited eye disease. It usually begins in childhood with night blindness and very slow dark adaptation. Over time, ...
Bosley–Salih–Alorainy syndrome (BSAS) is a very rare genetic condition caused by harmful changes (mutations) in a single gene called HOXA1. Children with BSAS ...
Bosch-Boonstra-Schaaf optic atrophy–intellectual disability syndrome (BBSOAS / NR2F1-related disorder) written in very simple English. BBSOAS is a rare, ...
Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare, genetic neurodevelopmental condition. It is caused by a change (variant) in a gene called NR2F1. This ...
BNAR Syndrome (Bifid Nose With or Without Anorectal and Renal Anomalies) is a very rare, inherited condition present at birth. The key feature is a split or ...
Blue rubber bleb nevus syndrome (BRBNS)—also called Bean syndrome—is a rare condition where a person has many abnormal venous malformations (enlarged, ...
JavaScript frameworks and libraries are collections of pre-written JavaScript code designed to streamline and enhance web development. While both provide ...
Beemer-Ertbruggen syndrome is a lethal (life-limiting) pattern of birth differences first reported in two brothers from a consanguineous family. The children ...
Exomphalos–Macroglossia–Gigantism Syndrome is an older name for Beckwith-Wiedemann syndrome (BWS). It is a congenital overgrowth condition. Babies are often ...
Beckwith–Wiedemann syndrome (BWS) is a genetic growth disorder that starts before birth. Babies are often large, the tongue may be big, some organs are ...
Pigmentary hairy epidermal nevus is a birthmark or patch on the skin that looks darker than the surrounding skin and grows more hair than usual. Doctors use ...
RxHarun
AI Chat Bot
Dorian
Hey, how can I help you today?
Powered by Elementor