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• List of rare diseases
  == [[Rare diseases]] == ...hat are not common among the general population. The exact definition of a rare disease varies, but in general, it is a disease that affects fewer than 200
  2 KB (275 words) - 23:15, 14 February 2024

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• List of rare diseases
  == [[Rare diseases]] == ...hat are not common among the general population. The exact definition of a rare disease varies, but in general, it is a disease that affects fewer than 200
  2 KB (275 words) - 23:15, 14 February 2024
• Orphanet
  ...owledge on [[rare diseases]]. It is a database dedicated to information on rare diseases and orphan drugs (available in 40 countries). The term "Orphanet" is a combination of "orphan" and "net", referring to its focus on [[orphan drugs]] and its natu
  2 KB (238 words) - 06:38, 5 February 2024
• Acephaly
  ...rom Ancient Greek: ἀ- ''a-'' "without" and κεφαλή ''kephalé'' "head") is a rare congenital condition where a fetus or an infant is born without a head. The ...meaning "head". It is used in medical terminology to describe the absence of the head.
  1 KB (165 words) - 04:11, 5 February 2024
• Creutzfeldt-Jakob disease
  ...Alfons Maria Jakob, the neurologists who first described the disease) is a rare, degenerative, invariably fatal brain disorder. It affects about one in eve ...oration becomes pronounced, and involuntary movements, blindness, weakness of extremities, and coma may occur.
  2 KB (215 words) - 15:08, 11 February 2024
• List of infectious diseases
  == List of Infectious Diseases == ...tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce. The term
  2 KB (302 words) - 19:42, 7 February 2024
• Eprodisate disodium
  ...chemical compound used in the medical field, specifically in the treatment of [[Amyloidosis|amyloidosis]]. ...rs to the presence of two sodium ions in the compound. The exact etymology of "Eprodisate" is not known.
  1 KB (212 words) - 04:01, 11 February 2024
• Acrofrontofacionasal dysostosis
  ...are [[genetic disorder]] characterized by abnormalities in the development of the face, head, and limbs. Diagnosis of Acrofrontofacionasal dysostosis is based on clinical examination and geneti
  1 KB (173 words) - 19:27, 11 February 2024
• Austrian syndrome
  ...ustrian syndrome''' is a rare medical condition characterized by the triad of [[endocarditis]], [[pneumonia]], and [[meningitis]]. It is named after the ...ndrome" comes from the Greek "σύνδρομον" (sýndromon), meaning "concurrence of symptoms," or "running together."
  2 KB (227 words) - 23:19, 9 February 2024
• Ablepharon macrostomia syndrome
  ...ia sin-drome) is a rare congenital disorder characterized by malformations of the face, skin, fingers and genitals. ...talia|ambiguous genitalia]]. Other symptoms may include [[Alopecia|absence of hair]], [[Nail dysplasia|abnormal nails]], and [[Cutis laxa|loose skin]].
  2 KB (200 words) - 23:34, 3 February 2024
• Birk-Barel syndrome
  '''Birk-Barel syndrome''' is a rare genetic disorder characterized by intellectual disability, hypotonia, hyper The main symptoms of Birk-Barel syndrome include:
  2 KB (190 words) - 04:01, 11 February 2024
• Hereditary orotic aciduria
  ...) is a rare [[autosomal recessive]] disorder characterized by an inability of the body to convert [[orotic acid]] into [[uridine monophosphate]] (UMP). T ...the excretion of acid in urine. "Hereditary" refers to the genetic nature of the disorder.
  2 KB (216 words) - 04:03, 12 February 2024
• Blau syndrome
  '''Blau Syndrome''' (pronounced: blau sin-drome) is a rare genetic disorder characterized by granulomatous arthritis, uveitis, and der ...drome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".
  2 KB (233 words) - 22:29, 8 February 2024
• Ruzicka Goerz Anton syndrome
  ...nton syndrome''' (pronunciation: roo-zick-uh go-erz an-ton sin-drome) is a rare [[dermatological]] condition characterized by [[hyperpigmentation]], [[hype ...ses. [[Hans Anton]] was a Swiss dermatologist who specialized in the study of skin disorders.
  2 KB (243 words) - 19:50, 12 February 2024
• Frederick Parkes Weber
  ...ld of [[medicine]]. His most notable work includes the identification of a rare [[vascular disorder]] now known as [[Frederick Parkes Weber syndrome]]. ...drome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
  1 KB (191 words) - 22:11, 11 February 2024
• Cooks syndrome
  ...by [[hypoplasia]] or aplasia of the terminal phalanges, [[hyperhidrosis]] of the palms and soles, and various dental anomalies. The syndrome was first d The syndrome is named after the group of researchers led by Dr. Cooks who first described the condition in a medical
  2 KB (212 words) - 23:24, 8 February 2024
• Triple-A syndrome
  ...ia, alacrima, and adrenal insufficiency. The name "Triple-A" is an acronym of these three key features. ..."Triple-A" is derived from the initial letters of the three main features of the syndrome.
  2 KB (241 words) - 12:06, 10 February 2024
• Parry–Romberg syndrome
  ...kage and degeneration of the tissues beneath the skin, usually on one side of the face ([[hemifacial atrophy]]). ...so experience neurological abnormalities such as [[seizures]] and episodes of severe facial pain ([[trigeminal neuralgia]]).
  2 KB (250 words) - 19:45, 7 February 2024
• Qazi Markouizos syndrome
  ...-koo-ee-zos sin-drome) is a rare genetic disorder characterized by a range of physical and developmental abnormalities. The symptoms of Qazi Markouizos syndrome can vary greatly among affected individuals. Commo
  2 KB (229 words) - 02:37, 12 February 2024
• Muenke syndrome
  ...-drome) is a rare genetic disorder characterized by specific abnormalities of the skull, hands, and feet. It is named after [[Maximilian Muenke]], a Germ ...drome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
  2 KB (234 words) - 17:00, 9 February 2024
• Rasmussen's encephalitis
  ...e, chronic neurological disorder, characterized by unilateral inflammation of the cerebral cortex, seizures, and progressive neurological and cognitive d ...alysis on one side of the body ([[Hemiparesis|hemiparesis]]), inflammation of the brain ([[Encephalitis|encephalitis]]), and mental deterioration.
  2 KB (248 words) - 15:17, 11 February 2024

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