Diseases named after discoverers

congenital disorder of nervous system

Lethal autosomal recessive disorder

Osteopetrosis, literally , also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.

congenital disorder of digestive system

osteochondrosis that results in abnormal bone growth and curvature located in thoracic vertebral column

type of cancer that may have the appearance of eczema, involving the nipple

monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

Human disease

rare genetic disorder with short strature and predisposition to cancer

reaction to endotoxin-like products released by the death of harmful microorganisms within the body during antimicrobial treatment

acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull

autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata

rare genetic disorder affecting collagen

rare and fatal autosomal recessive neurodegenerative disorder

physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

rare genetic disorder caused by mutations in the gene ALMS1

mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity

rare from of inflammatory arthritis characterized by fevers, rash, and joint pain

non-cardiac thoracic pain syndrome

a congenital condition with micrognathia and glossoptosis

tuberculosis of the spine

rare disease

inherited skin disorder

rare recessive genetic disorder

human disease

extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase

hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22

human disease

medical condition

a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body

Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function

autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans

genetic disorder that results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase

corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision

medical condition

genetic disorder

a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic developmental defects, and pulmonary hypoplasia.

human disease

rare disease

autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme

lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration

congenital disorder

human disease

bony outgrowths or gelatinous cysts on the proximal interphalangeal joints

osteochondrosis that results in death and collapse located in navicular bone of foot

rare disease

Human disease

rare genetic condition in humans

mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan

congenital disorder of urinary system

human disease

syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones

human disease

rare disease

hereditary spastic paraplegia that has material basis in variation in the chromosome region 1q24-q32

Human disease

type of Langerhans cell histiocytosis typically present in children