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searching for Genetic disorder 97 found (1558 total)

alternate case: genetic disorder

Keratin disease (141 words) [view diff] exact match in snippet view article find links to article

A keratin disease is a genetic disorder of one of the keratin genes.[citation needed] An example is monilethrix. The first to be identified was epidermolysis
Donnai–Barrow syndrome (1,218 words) [view diff] exact match in snippet view article find links to article
is a genetic disorder first described by Dian Donnai and Margaret Barrow in 1993. It is associated with LRP2. It is an inherited (genetic) disorder that
Familial hypertriglyceridemia (1,252 words) [view diff] exact match in snippet view article find links to article
Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins
Keutel syndrome (1,507 words) [view diff] exact match in snippet view article find links to article
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face
Liddle's syndrome (861 words) [view diff] exact match in snippet view article find links to article
Liddle's syndrome, also called Liddle syndrome, is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently
Lelis syndrome (133 words) [view diff] exact match in snippet view article find links to article
Lelis syndrome is a genetic disorder, a rare condition with dermatological and dental findings characterized by the association of ectodermal dysplasia
Deoxyadenosine (127 words) [view diff] exact match in snippet view article find links to article
accumulates in T lymphocytes and kills these cells resulting in a genetic disorder known as adenosine deaminase severe combined immunodeficiency disease
Beta-Sitosterol (1,397 words) [view diff] exact match in snippet view article find links to article
sterols are usually beneficial, there is a rare autosomal recessive genetic disorder phytosterolemia which causes over-absorption of phytosterols. Being
Crouzon syndrome (1,266 words) [view diff] exact match in snippet view article find links to article
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial
Crouzon syndrome (1,266 words) [view diff] exact match in snippet view article find links to article
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial
Wilson disease protein (1,305 words) [view diff] exact match in snippet view article find links to article
level in the body by excreting excess copper into bile and plasma. Genetic disorder of the ATP7B gene may cause Wilson's disease, a disease in which copper
Jyoti Amge (522 words) [view diff] exact match in snippet view article find links to article
62.8 centimetres (2 ft 3⁄4 in). Her restricted height is due to a genetic disorder called primordial dwarfism. Amge was featured in the 2009 documentary
Hypobetalipoproteinemia (320 words) [view diff] exact match in snippet view article find links to article
levels of HDL cholesterol. Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a very low cholesterol level (less than 100 mg/dl)
Bhaskar–Jagannathan syndrome (200 words) [view diff] exact match in snippet view article find links to article
Bhaskar–Jagannathan syndrome is an extremely rare genetic disorder and there is a limited amount of information related to it. Similar or related medical
Cherubism (1,810 words) [view diff] exact match in snippet view article find links to article
Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance
Miller–Dieker syndrome (1,732 words) [view diff] exact match in snippet view article find links to article
syndrome should not be confused with Miller syndrome, an unrelated rare genetic disorder, or Miller Fisher syndrome, a form of Guillain–Barré syndrome. The
Sotos syndrome (1,019 words) [view diff] exact match in snippet view article find links to article
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy
CHILD syndrome (882 words) [view diff] exact match in snippet view article find links to article
erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.: 485  The disorder
CHILD syndrome (882 words) [view diff] exact match in snippet view article find links to article
erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.: 485  The disorder
Health of Abraham Lincoln (3,177 words) [view diff] exact match in snippet view article find links to article
pseudodepression are also suggested as manifestations of MEN2B. MEN2B is a genetic disorder, and recently it has been demonstrated that Lincoln's biological mother
AP3M1 (860 words) [view diff] exact match in snippet view article find links to article
of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively
Mask (1985 film) (1,768 words) [view diff] exact match in snippet view article
Dennis, a boy who had craniodiaphyseal dysplasia, an extremely rare genetic disorder known commonly as lionitis due to the disfiguring cranial enlargements
Hagemoser–Weinstein–Bresnick syndrome (151 words) [view diff] exact match in snippet view article find links to article
Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989. It is characterized by optic
Warburg Micro syndrome (306 words) [view diff] exact match in snippet view article find links to article
Spastic Paraplegia or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia,
Coffin–Siris syndrome (724 words) [view diff] exact match in snippet view article find links to article
described in 1970 by Dr Grange S. Coffin and Dr E. Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails
Jacqueline Noonan (448 words) [view diff] exact match in snippet view article find links to article
American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. She was also the original describer of
Reproductive system disease (502 words) [view diff] exact match in snippet view article find links to article
reproductive system include:[citation needed] Kallmann syndrome - Genetic disorder causing decreased functioning of the sex hormone-producing glands caused
Feather duster budgerigar (325 words) [view diff] exact match in snippet view article find links to article
condition; birds are often euthanized in the nest. The condition may be a genetic disorder, caused by a herpesvirus, or perhaps caused by both. Whipper (budgerigar)
Weaver syndrome (1,294 words) [view diff] exact match in snippet view article find links to article
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through
Cohen syndrome (1,084 words) [view diff] exact match in snippet view article find links to article
syndrome or Cervenka syndrome) is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability
Craig Thomas (screenwriter) (870 words) [view diff] exact match in snippet view article
of congenital heart disease, particularly Jacobsen syndrome, a rare genetic disorder caused by the loss of a part of the 11th human chromosome. "Pilot"
GRACILE syndrome (609 words) [view diff] exact match in snippet view article find links to article
GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage diseases. GRACILE syndrome has also been found
Kapur–Toriello syndrome (268 words) [view diff] exact match in snippet view article find links to article
Kapur–Toriello syndrome is a rare autosomal recessive genetic disorder. The defining feature of Kapur–Toriello syndrome is abnormal morphology of the columella
Autoimmune lymphoproliferative syndrome (2,435 words) [view diff] exact match in snippet view article find links to article
lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis
Nager acrofacial dysostosis (548 words) [view diff] exact match in snippet view article find links to article
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment
Bovine progressive degenerative myeloencephalopathy (271 words) [view diff] exact match in snippet view article find links to article
degenerative myeloencephalopathy (BPDME), also known as weaver syndrome, is a genetic disorder of cattle, characterized by hindlimb weakness and ataxia. It has been
Rombo syndrome (385 words) [view diff] exact match in snippet view article find links to article
Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face,: 580  multiple milia, telangiectases, acral
Congenital myopathy (2,194 words) [view diff] exact match in snippet view article find links to article
development and symptoms present themselves at birth or in early life. Is a genetic disorder. Congenital myopathies with inclusion bodies and protein accumulation
X-linked agammaglobulinemia (1,814 words) [view diff] exact match in snippet view article find links to article
X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. As the form of agammaglobulinemia
Cryptograms (album) (2,463 words) [view diff] exact match in snippet view article
include themes of death, companionship, and Cox's experiences with his genetic disorder Marfan syndrome. Cryptograms was generally well received by critics
Galactose 1-phosphate (380 words) [view diff] exact match in snippet view article find links to article
this pathway can result in galactosemia; therefore, diagnosis of this genetic disorder occasionally involves measuring the concentration of these enzymes
Chronic progressive lymphedema (647 words) [view diff] exact match in snippet view article find links to article
disease. The cause of CPL is not known, although it is suspected that a genetic disorder of elastin metabolism prevents the lymphatic vessels from functioning
Myhre syndrome (496 words) [view diff] exact match in snippet view article find links to article
Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene. The clinical presentation
CHDI Foundation (493 words) [view diff] exact match in snippet view article find links to article
slow the progression of Huntington's disease", a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline. CHDI's
Pointy ears (1,210 words) [view diff] exact match in snippet view article find links to article
Pointy ears or pointed ears are a characteristic of many animals, a genetic disorder in humans, as well as a cliché in popular culture, particularly in
Jimmy Scott (1,693 words) [view diff] exact match in snippet view article find links to article
1990s. His unusual singing voice was due to Kallmann syndrome, a rare genetic disorder that limited his height to 4 feet 11 inches (150 cm) until the age
Eye disease (1,662 words) [view diff] exact match in snippet view article find links to article
(H35.5) Hereditary retinal dystrophy (H35.5) Retinitis pigmentosa — genetic disorder; tunnel vision preceded by night-blindness (H35.6) Retinal haemorrhage
Chronic progressive lymphedema (647 words) [view diff] exact match in snippet view article find links to article
disease. The cause of CPL is not known, although it is suspected that a genetic disorder of elastin metabolism prevents the lymphatic vessels from functioning
Wolf Girl (film) (776 words) [view diff] exact match in snippet view article
concerns a girl who travels with a freak show because of her rare genetic disorder known as hypertrichosis. Born into a financially suffering traveling
Fibrous dysplasia of bone (2,153 words) [view diff] exact match in snippet view article find links to article
Fibrous dysplasia is a very rare nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of
FXS (96 words) [view diff] exact match in snippet view article find links to article
Foreign exchange station, telephone terminology Fragile X syndrome, genetic disorder Toyota FXS, concept vehicle FXS station callsign KFXS radio station
Galloway–Mowat syndrome (768 words) [view diff] exact match in snippet view article find links to article
Galloway–Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly
ATP7A (2,865 words) [view diff] exact match in snippet view article find links to article
tyrosinase, and lysyl oxidase). The X-linked, inherited, lethal genetic disorder of the ATP7A gene causes Menkes disease, a copper deficiency resulting
Urbach–Wiethe disease (2,391 words) [view diff] exact match in snippet view article find links to article
Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. It was first officially reported
Geniospasm (255 words) [view diff] exact match in snippet view article find links to article
Geniospasm is movement disorder of the mentalis muscle. It is a benign genetic disorder linked to chromosome 9q13-q21 where there are episodic involuntary
The Time Traveler's Wife (film) (2,066 words) [view diff] exact match in snippet view article
follows Henry DeTamble (Bana), a Chicago librarian with a paranormal genetic disorder that causes him to randomly time travel as he tries to build a romantic
KS (379 words) [view diff] exact match in snippet view article find links to article
Human herpesvirus 8 (HHV8) Kartagener syndrome, a genetic disorder Kallmann syndrome, a genetic disorder preventing the start or completion of puberty Keratan
Hurler (132 words) [view diff] exact match in snippet view article find links to article
Kings Dominion amusement park in the United States Hurler syndrome, genetic disorder also known as mucopolysaccharidosis type I (MPS I), Hurler's disease
Dihydropteridine reductase deficiency (466 words) [view diff] exact match in snippet view article find links to article
Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal
Our Curse (206 words) [view diff] exact match in snippet view article find links to article
six months in their life of his son Leo, who suffers from the rare genetic disorder called Ondine's curse. When Leo was born, a friend of Śliwiński's had
WBS (208 words) [view diff] exact match in snippet view article find links to article
syndrome, or Wiedemann Beckwith Syndrome, a genetic disorder Williams-Beuren syndrome, a rare genetic disorder WBS Penguins, the American Hockey League affiliate
Moonlight Bay Trilogy (235 words) [view diff] exact match in snippet view article find links to article
investigated by the main character Christopher Snow, who suffers from the genetic disorder Xeroderma pigmentosum. Only the first two books have been released;
Frank Stephens (advocate) (505 words) [view diff] exact match in snippet view article
Down syndrome and has often acted as a spokesman for those with the genetic disorder. He is an ambassador for Global Down Syndrome Foundation and represented
Frank Stephens (advocate) (505 words) [view diff] exact match in snippet view article
Down syndrome and has often acted as a spokesman for those with the genetic disorder. He is an ambassador for Global Down Syndrome Foundation and represented
Toriello–Carey syndrome (289 words) [view diff] exact match in snippet view article find links to article
Toriello–Carey syndrome is a genetic disorder that is characterized by Pierre Robin sequence and agenesis of the corpus callosum. Children with the disorder
Ogden syndrome (1,070 words) [view diff] exact match in snippet view article find links to article
unrelated family, with three affected boys in two generations. This severe genetic disorder has provisionally been named Ogden syndrome, as this is the city where
Fine–Lubinsky syndrome (145 words) [view diff] exact match in snippet view article find links to article
Fine–Lubinsky syndrome is a rare genetic disorder which is characterized by ocular and hearing problems, speech and developmental delay, short stature
Huntingtons (48 words) [view diff] exact match in snippet view article find links to article
Huntingtons may refer to: Huntington's disease, a genetic disorder The Huntingtons, a punk rock band Huntington (disambiguation) This disambiguation page
Temple–Baraitser syndrome (707 words) [view diff] exact match in snippet view article find links to article
Temple–Baraitser syndrome (TBS) is a very rare autosomal dominant genetic disorder, characterised by intellectual disability, epilepsy, small or absent
SLC6A1 epileptic encephalopathy (912 words) [view diff] exact match in snippet view article find links to article
SLC6A1 epileptic encephalopathy is a genetic disorder characterised by the loss-of-function of one copy of the human SLC6A1 gene. SLC6A1 epileptic encephalopathy
Catch-22 (disambiguation) (246 words) [view diff] exact match in snippet view article
game), a 2012 iOS game CATCH-22, a mnemonic describing symptoms of the genetic disorder 22q11.2 deletion syndrome Catch Thirtythree, an album by Meshuggah
Ian Brown (journalist) (505 words) [view diff] exact match in snippet view article
series of Globe and Mail features dealing with his son Walker's rare genetic disorder, Cardiofaciocutaneous Syndrome (CFC), was published in the fall of
Severe achondroplasia with developmental delay and acanthosis nigricans (849 words) [view diff] exact match in snippet view article find links to article
developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized
Posterior column ataxia-retinitis pigmentosa syndrome (222 words) [view diff] exact match in snippet view article find links to article
ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive genetic disorder of the human eye, attributed to mutation of a gene] originally dubbed
Worth (387 words) [view diff] exact match in snippet view article find links to article
(1915–2006), American fencer H M Worth, discoverer of Worth syndrome genetic disorder Harry Worth (1917–1989), British comedy actor Helen Worth (born 1951)
Selumetinib (2,184 words) [view diff] exact match in snippet view article find links to article
two years of age and older, with neurofibromatosis type I (NF-1), a genetic disorder of the nervous system causing tumors to grow on nerves. It is taken
Familial dysautonomia (2,394 words) [view diff] exact match in snippet view article find links to article
also known as Riley-Day syndrome, is a rare, progressive, recessive genetic disorder of the autonomic nervous system that affects the development and survival
Bilateral frontoparietal polymicrogyria (2,405 words) [view diff] exact match in snippet view article find links to article
Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds
Iron overload (4,580 words) [view diff] exact match in snippet view article find links to article
most important causes are hereditary haemochromatosis (HH or HHC), a genetic disorder, and transfusional iron overload, which can result from repeated blood
Omodysplasia 2 (165 words) [view diff] exact match in snippet view article find links to article
Omodysplasia type 2 is a very rare genetic disorder characterised by abnormalities in the skull, long bones and genitourinary system. These can be grouped
Beare–Stevenson cutis gyrata syndrome (483 words) [view diff] exact match in snippet view article find links to article
Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes
MECP2 duplication syndrome (849 words) [view diff] exact match in snippet view article find links to article
intellectual disability and impaired motor function. It is an X-linked genetic disorder caused by the overexpression of MeCP2 protein. Symptoms of M2DS include
Usher (320 words) [view diff] exact match in snippet view article find links to article
knights in the United Kingdom Usher 1C, a human gene Usher syndrome, a genetic disorder Ushers of Trowbridge, a former English brewery Usher baronets, a title
IP (443 words) [view diff] exact match in snippet view article find links to article
Immunoprecipitation, a molecular biology technique Incontinentia pigmenti, a genetic disorder Infundibulopelvic ligament, part of the female pelvis Interphalangeal
Gene knockout (2,524 words) [view diff] exact match in snippet view article find links to article
example, the loss of a single gene may not fully mimic the effects of a genetic disorder, and the knockouts may have unintended effects on other genes or pathways
HD (307 words) [view diff] exact match in snippet view article find links to article
Hirschsprung's disease, a disorder of the abdomen Huntington's disease, a genetic disorder affecting the central nervous system HD (gene) or huntingtin, the IT15
Spondylo-ocular syndrome (219 words) [view diff] exact match in snippet view article find links to article
Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the spine. These can be divided into those affecting the eyes
SYT1-associated neurodevelopmental disorder (314 words) [view diff] exact match in snippet view article find links to article
neurodevelopmental disorder, also known as Baker-Gordon syndrome, is a rare genetic disorder caused by mutations in the synaptotagmin-1 (SYT1) gene. Patients present
Hypertension and brachydactyly syndrome (282 words) [view diff] exact match in snippet view article find links to article
Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder. It was first reported in 1973 by N. Bilginturan et al. The estimated
Lizzie Velásquez (1,553 words) [view diff] exact match in snippet view article find links to article
condition is a very rare, previously undiagnosed and non-terminal genetic disorder. Her condition bears similarities to many other conditions, especially
BBS (266 words) [view diff] exact match in snippet view article find links to article
Italy Budapest Business School, Hungary Bardet–Biedl syndrome, a genetic disorder Behavioral and Brain Sciences, a peer-reviewed journal Behavior-based
Sotolon (833 words) [view diff] exact match in snippet view article find links to article
syrup aroma to one's sweat and urine. In some individuals with the genetic disorder maple syrup urine disease, it is spontaneously produced in their bodies
Fragmentation of memory (1,241 words) [view diff] exact match in snippet view article find links to article
damage to or underdevelopment of the hippocampus. This may be due to a genetic disorder or be the result of trauma, such as post-traumatic stress disorder
Malouf syndrome (1,582 words) [view diff] exact match in snippet view article find links to article
sisters were first-degree cousins, suggesting the possibility of a genetic disorder. In 1992, a new case study of an 18-year-old female conducted by Narahara
Arterial calcification due to CD73 deficiency (331 words) [view diff] exact match in snippet view article find links to article
CD73 deficiency or Calcification of joints and arteries is a rare genetic disorder affecting adults. This condition is characterised by calcification
Thiamine responsive megaloblastic anemia syndrome (233 words) [view diff] exact match in snippet view article find links to article
(also known as Rogers syndrome) is a very rare autosomal recessive genetic disorder affecting a thiamine transporter, which is characterized by megaloblastic
Kallmann syndrome (4,592 words) [view diff] exact match in snippet view article find links to article
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of