disease /dis·ease/ (dĭ-zēz´)
any deviation from or interruption of the normal structure or function of any
body part, organ, or system that is manifested by a characteristic set of
symptoms and signs and whose etiology, pathology, and prognosis may be known or
unknown. See also entries under syndrome.
acquired cystic disease of kidney the
development of cysts in the formerly noncystic failing kidney in end-stage renal
disease.
Addison's disease bronzelike pigmentation of
the skin, severe prostration, progressive anemia, low blood pressure, diarrhea,
and digestive disturbance, due to adrenal hypofunction.
Albers-Schönberg disease osteopetrosis.
allogeneic disease graft-versus-host reaction
occurring in immunosuppressed animals receiving injections of allogeneic
lymphocytes.
Alpers' disease a rare disease of young
children, characterized by neuronal deterioration of the cerebral cortex and
elsewhere, progressive mental deterioration, motor disturbances, seizures, and
early death.
alpha chain disease heavy chain disease
characterized by plasma cell infiltration of the lamina propria of the small
intestine resulting in malabsorption with diarrhea, abdominal pain, and weight
loss, possibly accompanied by pulmonary involvement.
Alzheimer's disease progressive degenerative
disease of the brain, of unknown cause; characterized by diffuse atrophy
throughout the cerebral cortex with distinctive histopathological changes.
Andersen's disease glycogen storage
d., type IV.
apatite deposition disease a connective tissue
disorder marked by deposition of hydroxyapatite crystals in one or more joints
or bursae.
Aran-Duchenne disease spinal muscular
atrophy.
arteriosclerotic cardiovascular disease (ASCVD)
atherosclerotic involvement of arteries to the heart and to other organs,
resulting in debility or death; sometimes used specifically for ischemic heart
disease.
arteriosclerotic heart disease (ASHD) ischemic heart
d.
autoimmune disease any of a group of disorders
in which tissue injury is associated with humoral or cell-mediated responses to
the body's own constituents; they may be systemic or organ-specific.
Ayerza's disease polycythemia
vera with chronic cyanosis, dyspnea, bronchitis, bronchiectasis,
hepatosplenomegaly, bone marrow hyperplasia, and pulmonary artery sclerosis.
Banti's disease congestive
splenomegaly.
Barlow disease scurvy in infants.
Barraquer's disease partial
lipodystrophy.
Basedow's disease Graves' d.
Batten disease , Batten-Mayou disease
2. more generally, any or all of the group of
disorders constituting neuronal
ceroid lipofuscinosis.
Bayle's disease general paresis.
Bazin's disease erythema
induratum.
Bekhterev's (Bechterew's) disease ankylosing
spondylitis.
Benson's disease asteroid
hyalosis.
Berger's disease IgA
glomerulonephritis.
Bernhardt's disease , Bernhardt-Roth
disease meralgia
paresthetica.
Besnier-Boeck disease sarcoidosis.
Best's disease congenital
macular degeneration.
Bielschowsky-Janský disease Janský-Bielschowsky
d.
Binswanger's disease a degenerative dementia of
presenile onset caused by demyelination of the subcortical white matter of the
brain.
black disease a fatal disease of sheep, and
sometimes of humans, in the United States and Australia, due to Clostridium
novyi, marked by necrotic areas in the liver.
Blocq's disease astasia-abasia.
Blount disease tibia vara.
Boeck's disease sarcoidosis.
Bornholm disease epidemic
pleurodynia.
Bowen's disease a squamous cell carcinoma in
situ, often due to prolonged exposure to arsenic; usually occurring on
sun-exposed areas of skin. The corresponding lesion on the glans penis is
termed erythroplasia of Queyrat.
Brill's disease Brill-Zinsser d.
Brill-Symmers disease giant
follicular lymphoma.
Brill-Zinsser disease mild recrudescence of epidemic typhus years
after the initial infection, because Rickettsia
prowazekii has persisted in body tissue in an inactive state, with
humans as the reservoir.
broad beta disease familial
dysbetalipoproteinemia; named for the electrophoretic mobility of the abnormal
chylomicron and very-low-density lipoprotein remnants produced.
Busse-Buschke disease cryptococcosis.
Caffey's disease infantile
cortical hyperostosis.
calcium hydroxyapatite deposition disease apatite
deposition d.
calcium pyrophosphate deposition disease (CPDD)
an acute or chronic inflammatory arthropathy caused by deposition of calcium
pyrophosphate dihydrate (CPPD) crystals in the joints, chondrocalcinosis, and
crystals in the synovial fluid. Acute attacks are sometimes called pseudogout.
Calvé-Perthes disease osteochondrosis of
capitular epiphysis of femur.
Camurati-Engelmann disease diaphyseal
dysplasia.
Canavan disease , Canavan-van
Bogaert-Bertrand disease spongy degeneration of the central nervous
system.
Carrión's disease bartonellosis.
Castleman disease a benign or premalignant
condition resembling lymphoma but without recognizable malignant cells; there
are isolated masses of lymphoid tissue and lymph node hyperplasia, usually in
the abdominal or mediastinal area.
cat-scratch disease a usually benign,
self-limited disease of the regional lymph nodes, caused by Bartonella
henselae and characterized by a papule or pustule at the site of a
cat scratch, subacute painful regional lymphadenitis, and mild fever.
celiac disease a malabsorption syndrome
precipitated by ingestion of gluten-containing foods, with loss of villous
structure of the proximal intestinal mucosa, bulky, frothy diarrhea, abdominal
distention, flatulence, weight loss, and vitamin and electrolyte depletion.
Chagas disease trypanosomiasis due to Trypanosoma
cruzi; its course may be acute, subacute, or chronic.
Charcot-Marie-Tooth disease muscular atrophy of
variable inheritance, beginning in the muscles supplied by the peroneal nerves
and progressing to those of the hands and arms.
cholesteryl ester storage disease (CESD) a
lysosomal storage disease due to deficiency of lysosomal cholesterol esterase,
variably characterized by some combination of hepatomegaly,
hyperbetalipoproteinemia, and premature atherosclerosis.
Christmas disease hemophilia B.
chronic granulomatous disease frequent, severe
infections of the skin, oral and intestinal mucosa, reticuloendothelial system,
bones, lungs, and genitourinary tract associated with a genetically determined
defect in the intracellular bactericidal function of leukocytes.
chronic obstructive pulmonary disease (COPD)
any disorder marked by persistent obstruction of bronchial air flow.
Coats' disease exudative
retinopathy.
collagen disease any of a group of diseases
characterized by widespread pathologic changes in connective tissue; they
include lupus erythematosus, dermatomyositis, scleroderma, polyarteritis
nodosa, thrombotic purpura, rheumatic fever, and rheumatoid arthritis. Cf.collagen
disorder.
communicable disease a disease the causative
agents of which may pass or be carried from one person to another directly or
indirectly.
Concato's disease progressive malignant
polyserositis with large effusions into the pericardium, pleura, and
peritoneum.
constitutional disease one involving a system
of organs or one with widespread symptoms.
Cori's disease glycogen storage
d., type III.
coronary artery disease (CAD) atherosclerosis of
the coronary arteries, which may cause angina pectoris, myocardial infarction,
and sudden death; risk factors include hypercholesterolemia, hypertension,
smoking, diabetes mellitus, and low levels of high-density lipoproteins.
coronary heart disease (CHD) ischemic heart
d.
Cowden disease a hereditary disease marked by
multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic
anomalies.
Creutzfeldt-Jakob disease a rare prion disease existing
in sporadic, familial, and infectious forms, with onset usually in middle life,
and having a wide variety of clinical and pathological features. The most
commonly seen are spongiform degeneration of neurons, neuronal loss,gliosis, and
amyloid plaque formation, accompanied by rapidly progressive dementia, myoclonus,
motor disturbances, and encephalographic changes, with death occurring usually
within a year of onset.
Crigler-Najjar disease see under syndrome.
Crohn's disease regional enteritis;
a chronic granulomatous inflammatory disease usually in the terminal ileum with
scarring and thickening of the wall, often leading to intestinal obstruction
and formation of fistulas and abscesses.
Crouzon's disease craniofacial
dysostosis.
Cruveilhier's disease spinal muscular
atrophy.
Cushing's disease Cushing's syndrome in which
the hyperadrenocorticism is secondary to excessive pituitary secretion of
adrenocorticotropic hormone.
cystic disease of breast mammary dysplasia with
formation of blue
dome cysts.
cytomegalic inclusion disease , cytomegalovirus
disease an infection due to cytomegalovirus and marked by nuclear
inclusion bodies in enlarged infected cells. In the congenital form, there is
hepatosplenomegaly with cirrhosis, and microcephaly with mental or motor
retardation. Acquired disease may cause a clinical state similar to infectious
mononucleosis. When acquired by blood transfusion, postperfusion syndrome
results.
deficiency disease a condition caused by
dietary or metabolic deficiency, including all diseases due to an insufficient
supply of essential nutrients.
degenerative joint disease osteoarthritis.
Dejerine's disease , Dejerine-Sottas
disease progressive
hypertrophic neuropathy.
demyelinating disease any condition
characterized by destruction of the myelin sheaths of nerves.
disappearing bone disease gradual resorption of
a bone or group of bones, sometimes associated with multiple hemangiomas,
usually in children or young adults and following trauma.
diverticular disease a general term including
the prediverticular state, diverticulosis, and diverticulitis.
Duchenne's disease
3. tabes dorsalis.
Duchenne-Aran disease spinal muscular
atrophy.
Duhring's disease dermatitis
herpetiformis.
Dukes' disease a febrile disease of childhood
marked by an exanthematous eruption, probably due to a virus of the
Coxsackie-ECHO group.
Durand-Nicolas-Favre disease lymphogranuloma
venereum.
Duroziez's disease congenital
mitral stenosis.
Ebola virus disease fatal acute hemorrhagic
fever resembling Marburg virus
disease but caused by Ebola virus, seen in the Sudan and Zaire.
Ebstein's disease see under anomaly.
end-stage renal disease chronic irreversible renal failure.
Erb's disease Duchenne's
muscular dystrophy.
Erb-Goldflam disease myasthenia
gravis.
Eulenburg's disease paramyotonia
congenita.
extrapyramidal disease any of a group of
clinical disorders marked by abnormal involuntary movements, alterations in
muscle tone, and postural disturbances; they include parkinsonism, chorea,
athetosis, etc.
Fabry's disease an X-linked lysosomal storage
disease of glycosphingolipid catabolism resulting from deficiency of
α-galactosidase A and leading to accumulation of ceramide trihexoside in the
cardiovascular and renal systems.
Farber's disease a lysosomal storage disease
due to defective ceramidase and characterized by hoarseness, aphonia,
dermatitis, bone and joint deformities, granulomatous reaction, and psychomotor
retardation.
Fazio-Londe disease a rare type of progressive
bulbar palsy occurring in childhood.
Feer disease acrodynia.
fibrocystic disease of breast a form of mammary
dysplasia with formation of cysts of various size containing a semitransparent,
turbid fluid that imparts a brown to blue color to the unopened cysts; believed
due to abnormal hyperplasia of the ductal epithelium and dilatation of the
ducts of the mammary gland, resulting from exaggeration and distortion of
normal menstrual cycle–related breast changes.
fibrocystic disease of the pancreas cystic fibrosis.
fifth disease erythema
infectiosum.
flint disease chalicosis.
floating beta disease familial
dysbetalipoproteinemia.
focal disease a localized disease.
foot-and-mouth disease an acute, contagious
viral disease of wild and domestic cloven-footed animals and occasionally
humans, marked by vesicular eruption on the lips, buccal cavity, pharynx, legs,
and feet.
Forbes' disease glycogen storage
d., type III.
fourth disease Dukes' d.
fourth venereal disease granuloma
inguinale.
Fox-Fordyce disease a persistent and
recalcitrant, itchy, papular eruption, chiefly of the axillae and pubes, due to
inflammation of apocrine sweat glands.
Freiberg's disease osteochondrosis of the head
of the second metatarsal bone.
Friedländer's disease endarteritis
obliterans.
Friedreich's disease paramyoclonus
multiplex.
functional disease see under disorder.
Garré's disease sclerosing
nonsuppurative osteomyelitis.
gastroesophageal reflux disease (GERD) any
condition resulting from gastroesophageal reflux, characterized by heartburn
and regurgitation; see also reflux
esophagitis.
Gaucher's disease a hereditary disorder of
glucocerebroside metabolism, marked by the presence of Gaucher's cells in the
marrow, and by hepatosplenomegaly and erosion of the cortices of long bones and
pelvis. The adult form is associated with moderate anemia and thrombocytopenia,
and yellowish pigmentation of the skin; in the infantile form there is, in
addition, marked central nervous system impairment; in the juvenile form there
are rapidly progressive systemic manifestations but moderate central nervous
system involvement.
genetic disease a general term for any disorder
caused by a genetic mechanism, comprising chromosome aberrations (or
anomalies), mendelian (or monogenic or single-gene) disorders, and
multifactorial disorders.
gestational trophoblastic disease see under neoplasia.
Gilbert disease a familial, benign elevation of
bilirubin levels without evidence of liver damage or hematologic abnormalities.
Gilles de la Tourette's disease see under syndrome.
Glanzmann disease see thrombasthenia.
glycogen storage disease any of a number of
rare inborn errors of metabolism caused by defects in specific enzymes or
transporters involved in the metabolism of glycogen.
type I glucose-6-phosphatase deficiency:
a severe hepatorenal form due to deficiency of the hepatic enzyme glucose-6-phosphatase,
resulting in liver and kidney involvement, with hepatomegaly, hypoglycemia,
hyperuricemia, and gout
type IA glycogen storage
d., type I.
type IB a form resembling type I but
additionally predisposing to infection due to neutropenia and to chronic
inflammatory bowel disease; due to a defect in the transport system for glucose
6-phosphate.
type II a disorder due to deficiency of the
lysosomal enzyme α-1,4,-glucosidase, the severe infant form resulting in
generalized glycogen accumulation, with cardiomegaly, cardiorespiratory
failure, and death, and a milder adult form being a gradual skeletal myopathy
that sometimes causes respiratory problems.
type III a form due to deficiency of debrancher enzyme (amylo-1,6-glucosidase)
in muscle, liver, or both; defects in the liver enzyme are characterized by
hepatomegaly and hypoglycemia while defects in the muscle enzyme are
characterized by progressive muscle wasting and weakness.
type IV brancher enzyme deficiency;
cirrhosis of the liver, hepatosplenomegaly, progressive hepatic failure, and
death due to deficiency of the glycogen brancher
enzyme (1,4-α-glucan branching enzyme).
type V muscle cramps and fatigue during exercise
due to a defect in the skeletal muscle isozyme of glycogen phosphorylase(muscle
phosphorylase).
type VI hepatomegaly, mild to moderate
hypoglycemia and mild ketosis, due to deficiency of the liver isozyme of
glycogenphosphorylase (hepatic
phosphorylase).
type VII muscle weakness and cramping after
exercise due to deficiency of the muscle isozyme of 6-phosphofructokinase.
type VIII phosphorylase .
graft-versus-host (GVH) disease disease caused
by the immune response of histoincompatible, immunocompetent donor cells
against the tissue of immunocompromised host, as a complication of bone marrow
transplantation, or as a result of maternal-fetal blood transfusion, or
therapeutic transfusion to an immunocompromised recipient.
Graves' disease an association of
hyperthyroidism, goiter, and exophthalmos, with accelerated pulse rate, profuse
sweating, nervous symptoms, psychic disturbances, emaciation, and elevated
basal metabolism.
Greenfield's disease former name for the late
infantile form of metachromatic leukodystrophy.
Gull's disease atrophy of the thyroid gland
with myxedema.
Günther disease congenital
erythropoietic porphyria.
H disease Hartnup d.
Hailey-Hailey disease benign
familial pemphigus.
Hallervorden-Spatz disease an autosomal
recessive disorder caused by decreased numbers of myelin sheaths of the globus
pallidus and substantia nigra, with accumulation of iron pigment, progressive
rigidity beginning in the legs, choreoathetoid movements, dysarthria, and mental
deterioration.
Hand's disease Hand-Schüller-Christian
d.
hand-foot-and-mouth disease a mild, highly
infectious viral disease of children, with vesicular lesions in the mouth and
on the hands and feet.
Hand-Schüller-Christian disease a chronic,
progressive form of multifocal Langerhans
cell histiocytosis, sometimes with accumulation of cholesterol,
characterized by the triad of calvarial bone defects, exophthalmos, and
diabetes insipidus.
Hansen's disease leprosy.
Hartnup disease a hereditary disorder of
intestinal and renal transport of neutral α-amino acids, marked by a
pellagra-like skin rash, with transient cerebellar ataxia, constant renal
aminoaciduria, and other biochemical abnormalities.
Hashimoto's disease a progressive disease of
the thyroid gland with degeneration of its epithelial elements and replacement
by lymphoid and fibrous tissue.
heavy chain diseases a group of malignant
neoplasms of lymphoplasmacytic cells marked by the presence of immunoglobulin
heavy chains or heavy chain fragments; they are classified according to heavy
chain type, e.g., alpha chain disease.
Heine-Medin disease the major form of
poliomyelitis.
hemoglobin disease any of various hereditary
molecular diseases characterized by abnormal hemoglobins in the red blood
cells; the homozygous form is manifested by hemolytic anemia.
hemolytic disease of the newborn erythroblastosis
fetalis.
hemorrhagic disease of the newborn a
self-limited hemorrhagic disorder of the first few days of life, due to
deficiency of vitamin K–dependent coagulation factors II, VII, IX, and X.
Hers' disease glycogen storage
d., type VI.
Heubner-Herter disease the infantile form of
celiac disease.
hip-joint disease tuberculosis of the hip
joint.
Hippel's disease von Hippel's d.
Hirschsprung's disease congenital
megacolon.
His disease , His-Werner disease trench fever.
Hodgkin's disease a form of malignant lymphoma
marked clinically by painless, progressive enlargement of lymph nodes, spleen,
and general lymphoid tissue; other symptoms may include anorexia, lassitude,
weight loss, fever, pruritus, night sweats, and anemia. Reed-Sternberg cells
are characteristically present. Four types have been distinguished on the basis
of histopathologic criteria.
hoof-and-mouth disease foot-and-mouth
d.
hookworm disease infection with the hookworm Ancylostoma
duodenale or Necator
americanus, whose larvae enter the body through the skin or in
contaminated food or water and migrate to the small intestine where, as adults,
they attach to the mucosa and ingest blood; symptoms may include abdominal
pain, diarrhea, colic or nausea, and anemia.
hyaline membrane disease a type of respiratory
distress syndrome of the newborn in which there is formation of a
hyaline-like membrane lining the terminal respiratory passages; extensive atelectasis
is attributed to lack of surfactant.
hydatid disease an infection, usually of the
liver, due to larval forms of tapeworms of the genus Echinococcus, marked
by development of expanding cysts.
hypophosphatemic bone disease an inherited
disorder resembling a mild form of X-linked hypophosphatemia, similarly due to
a defect in renal tubular function but usually showing osteomalacia without
radiographic evidence of rickets.
immune complex disease local or systemic
disease caused by the formation of circulating immune complexes and their
deposition in tissue, due to activation of complement and to recruitment and
activation of leukocytes in type III hypersensitivity reactions.
infectious disease one due to organisms ranging
in size from viruses to parasitic worms; it may be contagious in origin, result
from nosocomial organisms, or be due to endogenous microflora from the nose and
throat, skin, or bowel.
inflammatory bowel disease any idiopathic
inflammatory disease of the bowel, such as Crohn's disease and ulcerative
colitis.
intercurrent disease one occurring during the
course of another disease with which it has no connection.
iron storage disease hemochromatosis.
ischemic bowel disease ischemic colitis.
ischemic heart disease (IHD) any of a group of
acute or chronic cardiac disabilities resulting from insufficient supply of
oxygenated blood to the heart.
Janský-Bielschowsky disease the late infantile
form of neuronal
ceroid lipofuscinosis, occurring between two and four years of age,
characterized by abnormal accumulation of lipofuscin; beginning as myoclonic
seizures and progressing to neurologic and retinal deterioration and death by
age 8 to 12.
jumping disease any of several culture-specific
disorders characterized by exaggerated responses to small stimuli, muscle tics
including jumping, obedience even to dangerous suggestions, and sometimes
coprolalia or echolalia.
juvenile Paget disease hyperostosis
corticalis deformans juvenilis.
Kashin-Bek (Kaschin-Beck) disease a disabling
degenerative disease of the peripheral joints and spine, endemic in
northeastern Asia; believed to be caused by ingestion of cereal grains infected
with the fungus Fusarium sporotrichiella.
Katayama disease schistosomiasis
japonica.
Kawasaki disease a febrile illness usually
affecting infants and young children, with conjunctival injection, changes to
the oropharyngeal mucosa, changes to the peripheral extremities including
edema, erythema, and desquamation, a primarily truncal polymorphous exanthem,
and cervical lymphadenopathy. It is often associated with vasculitis of the
large coronary vessels.
Kienböck's disease slowly progressive
osteochondrosis of the lunate bone; it may affect other wrist bones.
kinky hair disease Menkes'
syndrome.
Köhler's bone disease
1. osteochondrosis of the tarsal navicular bone
in children.
2. thickening of the shaft of the second
metatarsal bone and changes about its articular head, with pain in the second
metatarsophalangeal joint on walking or standing.
Krabbe's disease a lysosomal storage disease
beginning in infancy, due to deficiency of β-galactosidase. Pathologically,
there is rapidly progressive cerebral demyelination and large globoid bodies
(swollen with accumulated cerebroside) in the white substance.
Kufs' disease the adult form of neuronal
ceroid lipofuscinosis, with onset prior to age 40; characterized by
progressive neurologic deterioration but not blindness, excessive storage of
lipofuscin, and shortened life expectancy;
Kümmell's disease compression fracture of
vertebra, with symptoms a few weeks after injury, including spinal pain,
intercostal neuralgia, lower limb motor disturbances, and kyphosis.
Kyasanur Forest disease a fatal viral disease
of monkeys in the Kyasanur Forest of India, communicable to humans, in whom it
produces hemorrhagic symptoms.
Kyrle's disease a chronic disorder of
keratinization marked by keratotic plugs that develop in hair follicles and
eccrine ducts, penetrating the epidermis and extending down into the corium,
causing foreign-body reaction and pain.
Lafora's disease see under epilepsy.
Leber's disease
legionnaires' disease an often fatal bacterial
infection caused by Legionella pneumophila, not
spread by person-to-person contact, characterized by high fever,
gastrointestinal pain, headache, and pneumonia; there may also be involvement
of the kidneys, liver, and nervous system.
Leiner's disease a disorder of infancy
characterized by generalized seborrhea-like dermatitis and erythroderma, severe
intractable diarrhea, recurrent infections, and failure to thrive.
Leriche disease post-traumatic
osteoporosis.
Letterer-Siwe disease a Langerhans
cell histiocytosis of early childhood, of autosomal recessive
inheritance, characterized by cutaneous lesions resembling seborrheic
dermatitis, hemorrhagic tendency, hepatosplenomegaly, lymphadenitis, and
progressive anemia. If untreated it is rapidly fatal. Called also acute
disseminated Langerhans cell histiocytosis.
Libman-Sacks disease see under endocarditis.
Lindau's disease , Lindau-von Hippel
disease von
Hippel-Lindau d.
Little's disease congenital spastic stiffness
of the limbs, a form of cerebral palsy due to lack of development of the
pyramidal tracts.
Lobstein's disease see osteogenesis
imperfecta.
Lou Gehrig disease amyotrophic
lateral sclerosis.
Lowe disease oculocerebrorenal
syndrome.
Lutz-Splendore-Almeida disease paracoccidioidomycosis.
Lyme disease a recurrent multisystemic disorder
caused by the spirochete Borrelia
burgdorferi, the vectors being the ticks Ixodes scapularis and I.
pacificus; usually initially characterized by lesions of erythema
chronicum migrans, followed by various manifestations including arthritis of
the large joints, myalgia, and neurologic and cardiac abnormalities.
lysosomal storage disease an inborn error of
metabolism with (1) a defect in a specific lysosomal enzyme; (2) intracellular
accumulation of an unmetabolized substrate; (3) clinical progression affecting
multiple tissues or organs; (4) considerable phenotypic variation within a
disease.
MAC disease complex d.
McArdle disease glycogen storage
d., type V.
mad cow disease bovine
spongiform encephalopathy.
Madelung's disease
1. see under deformity.
2. see under neck.
maple bark disease hypersensitivity
pneumonitis in logging and sawmill workers due to inhalation of spores
of a mold, Cryptostroma corticale, growing under the maple
bark.
maple syrup urine disease (MSUD) a hereditary
enzyme defect in metabolism of branched chain amino acids, marked clinically by
mental and physical retardation, severe ketoacidosis, feeding difficulties, and
a characteristic maple syrup odor in the urine and on the body.
Marburg virus disease a severe, often fatal,
viral hemorrhagic fever first reported in Marburg, Germany, among laboratory
workers exposed to African green monkeys.
Marchiafava-Micheli disease paroxysmal
nocturnal hemoglobinuria.
Marie-Bamberger disease hypertrophic
pulmonary osteoarthropathy.
Marie-Strümpell disease ankylosing
spondylitis.
Marie-Tooth disease Charcot-Marie-Tooth
d.
Mediterranean disease thalassemia
major.
medullary cystic disease familial
juvenile nephronophthisis.
Meniere's disease deafness, tinnitus, and
dizziness, in association with nonsuppurative disease of the labyrinth.
mental disease see under disorder.
Merzbacher-Pelizaeus disease Pelizaeus-Merzbacher
d.
metabolic disease one caused by a disruption of
a normal metabolic pathway because of a genetically determined enzyme defect.
Meyer's disease adenoid vegetations of the
pharynx.
Mikulicz's disease benign, self-limited
lymphocytic infiltration and enlargement of the lacrimal and salivary glands of
uncertain etiology.
Milroy disease hereditary permanent lymphedema
of the legs due to lymphatic obstruction.
Minamata disease a severe neurologic disorder
due to alkyl mercury poisoning, with permanent neurologic and mental
disabilities or death; once prevalent among those eating contaminated seafood
from Minamata Bay, Japan.
minimal change disease subtle alterations in
kidney function demonstrable by clinical albuminuria and the presence of lipid
droplets in cells of the proximal tubules, seen primarily in young children.
mixed connective tissue disease a combination
of scleroderma, myositis, systemic lupus erythematosus, and rheumatoid
arthritis, and marked serologically by the presence of antibody against
extractable nuclear antigen.
Möbius disease ophthalmoplegic
migraine.
molecular disease any disease in which the
pathogenesis can be traced to a single molecule, usually a protein, which is
either abnormal in structure or present in reduced amounts.
Mondor's disease phlebitis affecting the large
subcutaneous veins normally crossing the lateral chest wall and breast from the
epigastric or hypochondriac region to the axilla.
Monge's disease chronic
mountain sickness.
Morquio's disease , Morquio-Ullrich
disease see under syndrome.
motor neuron disease , motor system
disease any disease of a motor neuron, including spinal muscular
atrophy, progressive bulbar paralysis, amyotrophic lateral sclerosis, and
lateral sclerosis.
Mycobacterium avium complex disease MAC disease;
systemic disease caused by infection with organisms of the Mycobacterium
avium-intracellulare complex in patients with human
immunodeficiency virus infection.
Newcastle disease a viral disease of birds,
including domestic fowl, transmissible to humans, characterized by respiratory,
gastrointestinal or pulmonary, and encephalitic symptoms.
new variant Creutzfeldt-Jakob disease (nvCJD) a
variant of Creutzfeldt-Jakob
disease having a younger age of onset than is seen inCreutzfeldt-Jakob
disease, and caused by the same agent that causes bovine
spongiform encephalopathy.
Nicolas-Favre disease lymphogranuloma
venereum.
Niemann's disease , Niemann-Pick disease a
lysosomal storage disease due to sphingomyelin accumulation in the
reticuloendothelial system; there are five types distinguished by age of onset,
amount of central nervous system involvement, and degree of enzyme deficiency.
nil disease minimal
change d.
Norrie's disease an X-linked disorder
consisting of bilateral blindness from retinal malformation, mental
retardation, and deafness.
notifiable disease one required to be reported
to federal, state, or local health officials when diagnosed, because of
infectiousness, severity, or frequency of occurrence.
oasthouse urine disease methionine
malabsorption syndrome.
obstructive small airways disease chronic
bronchitis with irreversible narrowing of the bronchioles and small bronchi
with hypoxia and often hypercapnia.
occupational disease disease due to various
factors involved in one's employment.
Oguchi's disease a form of hereditary night
blindness and fundus discoloration following light adaptation.
organic disease one associated with
demonstrable change in a bodily organ or tissue.
Osgood-Schlatter disease osteochondrosis of the
tuberosity of the tibia.
Osler's disease
Owren's disease parahemophilia.
Paget's disease
1. (of bone) osteitis
deformans.
2. (of breast) an intraductal inflammatory
carcinoma of the breast, involving the areola and nipple.
3. an extramammary counterpart of Paget's
disease (2), usually involving the vulva, and sometimes other sites, as the
perianal and axillary regions.
Parkinson's disease a slowly progressive form
of parkinsonism,
usually seen late in life, marked by masklike facies, tremor of resting
muscles, slowing of voluntary movements, festinating gait, peculiar posture,
muscular weakness, and sometimes excessive sweating and feelings of heat.
Parrot's disease see under pseudoparalysis.
parrot disease psittacosis.
Parry's disease Graves' d.
Pelizaeus-Merzbacher disease a progressive
familial form of leukoencephalopathy, marked by nystagmus, ataxia, tremor,
parkinsonian facies, dysarthria, and mental deterioration.
Pellegrini's disease , Pellegrini-Stieda
disease calcification of the medial collateral ligament of the knee
due to trauma.
pelvic inflammatory disease (PID) any pelvic
infection involving the upper female genital tract beyond the cervix.
periodontal disease any disease or disorder of
the periodontium.
Perthes' disease osteochondrosis of capitular
femoral epiphysis.
Peyronie's disease induration of the corpora cavernosa of
the penis, producing a painful fibrous chordee and
penile curvature.
Pfeiffer's disease infectious
mononucleosis.
Pick's disease
1. progressive atrophy of the cerebral
convolutions in a limited area (lobe) of the brain, with clinical
manifestations and course similar to Alzheimer's disease.
polycystic kidney disease , polycystic
disease of kidneys either of two unrelated heritable disorders marked
by cysts in both kidneys: the autosomal dominant or adult form
is more common, appears in adult life, and is marked by loss of renal function
that can be either rapid or slow; the autosomal recessive or infantile form
is more rare, may be congenital or may appear later in childhood, and almost
always progresses to renal failure.
polycystic renal disease polycystic
kidney d..
Pompe's disease glycogen storage
d., type II.
Pott's disease spinal
tuberculosis.
primary electrical disease serious ventricular
tachycardia, and sometimes ventricular fibrillation, in the absence of
recognizable structural heart disease.
prion disease any of a group of fatal,
transmissible neurodegenerative diseases, which may be sporadic, familial, or
acquired, caused by abnormalities of prion protein metabolism
resulting from mutations in the prion protein gene
or from infection with pathogenic forms of the protein.
pulseless disease Takayasu's
arteritis.
Raynaud's disease a primary or idiopathic
vascular disorder, most often affecting women, marked by bilateral attacks of
Raynaud's phenomenon.
Recklinghausen's disease
2. (of bone) osteitis
fibrosa cystica generalisata.
Refsum's disease an inherited disorder of lipid
metabolism, characterized by accumulation of phytanic acid, chronic
polyneuritis, retinitis pigmentosa, cerebellar ataxia, and persistent elevation
of protein in cerebrospinal fluid.
remnant removal disease familial
dysbetalipoproteinemia.
reversible obstructive airway disease a
condition characterized by bronchospasm reversible
by intervention, as in asthma.
rheumatic heart disease the most important
manifestation and sequel to rheumatic fever, consisting chiefly of valvular
deformities.
rheumatoid disease a systemic condition best
known by its articular involvement (rheumatoid arthritis) but emphasizing
nonarticular changes, e.g., pulmonary interstitial fibrosis, pleural effusion,
and lung nodules.
Ritter's disease dermatitis
exfoliativa neonatorum.
Roger's disease a ventricular septal defect;
the term is usually restricted to small, asymptomatic defects.
runt disease a graft-versus-host disease
produced by immunologically competent cells in a foreign host that is unable to
reject them, resulting in gross retardation of host development and in death.
Salla disease an inherited disorder of sialic
acid metabolism characterized by accumulation of sialic acid in lysosomes and
excretion in the urine, mental retardation, delayed motor development, and
ataxia.
Sandhoff's disease a type of GM2 gangliosidosis
resembling Tay-Sachs disease, seen in non-Jews, marked by a progressively more
rapid course, and due to a defect in hexosaminidase, both isozymes A and B.
Schamberg's disease a slowly progressive
purpuric and pigmentary disease of the skin affecting chiefly the shins,
ankles, and dorsa of the feet.
Schilder's disease subacute or chronic leukoencephalopathy
in children and adolescents, similar to adrenoleukodystrophy;
massive destruction of the white substance of the cerebral hemispheres leads to
blindness, deafness, bilateral spasticity, and mental deterioration.
Schönlein's disease see under purpura.
secondary disease
1. one subsequent to or as a consequence of
another disease.
2. one due to introduction of incompatible,
immunologically competent cells into a host rendered incapable of rejecting
them by heavy exposure to ionizing radiation.
self-limited disease one that runs a limited
and definite course.
serum disease see under sickness.
severe combined immunodeficiency disease (SCID)
see under immunodeficiency .
sexually transmitted disease venereal disease;
any of a diverse group of infections transmitted by sexual contact; in some
this is the only important mode of transmission, and in others transmission by
nonsexual means is possible.
sickle cell disease any disease associated with
the presence of hemoglobin S.
Simmonds' disease see panhypopituitarism.
sixth disease exanthema
subitum.
small airways disease chronic obstructive
bronchitis with irreversible narrowing of the bronchioles and small bronchi.
See also obstructive
small airways d.
Smith-Strang disease methionine
malabsorption syndrome.
Spielmeyer-Vogt disease Vogt-Spielmeyer
d.
Steinert's disease myotonic
dystrophy.
Still's disease juvenile
rheumatoid arthritis.
storage disease a metabolic disorder in which a
specific substance (a lipid, a protein, etc.) accumulates in certain cells in
unusually large amounts.
storage pool disease a blood coagulation
disorder due to failure of the platelets to release adenosine diphosphate (ADP)
in response to aggregating agents; characterized by mild bleeding episodes,
prolonged bleeding time, and reduced aggregation response to collagen or
thrombin.
Strümpell's disease
1. hereditary lateral sclerosis with the
spasticity mainly limited to the legs.
Strümpell-Leichtenstern disease hemorrhagic
encephalitis.
Strümpell-Marie disease ankylosing
spondylitis.
Sutton's disease
1. halo nevus.
Swift's disease , Swift-Feer disease acrodynia.
Takayasu's disease see under arteritis .
Tangier disease a familial disorder
characterized by a deficiency of high-density lipoproteins in the blood serum,
with storage of cholesteryl esters in tissues.
Tarui's disease glycogen storage
d., type VII.
Tay-Sachs disease (TSD) the most common GM2
gangliosidosis, seen almost exclusively in northeastern European Jews,
characterized by infantile onset, doll-like facies, cherry-red macular spot,
early blindness, hyperacusis, macrocephaly, seizures, hypotonia, and death in
early childhood.
Thomsen's disease myotonia
congenita.
thyrotoxic heart disease heart disease
associated with hyperthyroidism, marked by atrial fibrillation, cardiac
enlargement, and congestive heart failure.
transmissible neurodegenerative disease prion d..
trophoblastic disease gestational
trophoblastic neoplasia.
tsutsugamushi disease scrub typhus.
tunnel disease decompression
sickness.
uremic bone disease renal
osteodystrophy.
venereal disease sexually
transmitted d.
venoocclusive disease of the liver symptomatic
occlusion of the small hepatic venules caused by ingestion of Senecio tea or
related substances, by certain chemotherapy agents, or by radiation.
vinyl chloride disease acro-osteolysis
resulting from exposure to vinyl chloride, characterized by Raynaud's
phenomenon and skin and bony changes on the limbs.
Vogt-Spielmeyer disease the juvenile form of neuronal
ceroid lipofuscinosis with onset between ages 5 and 10 years;
characterized by rapid cerebroretinal degeneration, excessive neuronal storage
of lipofuscin, and death within 10 to15 years.
Volkmann's disease congenital deformity of the
foot due to tibiotarsal dislocation.
von Hippel's disease hemangiomatosis confined
principally to the retina; when associated with hemangioblastoma of the
cerebellum, it is known as von
Hippel-Lindau d.
von Hippel-Lindau disease a hereditary
condition marked by hemangiomas of the retina and hemangioblastomas of the
cerebellum, sometimes with similar lesions of the spinal cord and cysts of the
viscera; there may be neurologic symptoms such as seizures and mental
retardation.
von Willebrand's disease an autosomal dominant
bleeding disorder characterized by prolonged bleeding time, deficiency of von Willebrand's
factor, and often impairment of adhesion of platelets on glass beads,
associated with epistaxis and increased bleeding after trauma or surgery,
menorrhagia, and postpartum bleeding.
Waldenström's disease osteochondrosis of the
capitular femoral epiphysis.
Weber-Christian disease nodular
nonsuppurative panniculitis.
Werlhof's disease idiopathic
thrombocytopenic purpura.
Wernicke's disease see under encephalopathy.
Westphal-Strümpell disease hepatolenticular
degeneration.
Whipple's disease a malabsorption syndrome
marked by diarrhea, steatorrhea, skin pigmentation, arthralgia and arthritis,
lymphadenopathy, central nervous system lesions, and infiltration of the
intestinal mucosa with macrophages containing PAS-positive material.
Whitmore's disease melioidosis.
Wilson's disease an inherited, progressive
disorder of copper metabolism, with accumulation of copper in liver, brain,
kidney, cornea, and other tissues; it is characterized by cirrhosis in the
liver, degenerative changes in the brain, and a pigmented ring at the outer
margin of the cornea.
Wolman's disease a lysosomal storage disease
due to deficiency of the lysosomal sterol esterase, occurring in infants, and
associated with hepatosplenomegaly, adrenal steatorrhea, calcification,
abdominal distention, anemia, and inanition.
woolsorter's disease inhalational
anthrax.
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