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penicilliosis is an opportunistic mycosis that has_material_basis_in penicillium marneffei results_in systemic infection and has_symptom fever has_symptom anemia has_symptom weight loss has_symptom lymphadenopathy has_symptom hepatosplenomegaly has_symptom respiratory signs and has_symptom skin lesions.

fusariosis is an opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by fusarium solani or fusarium oxysporum. skin lesions are seen in neutropenic patients and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.

trichosporonosis is an opportunistic mycosis that results_in disseminated infection has_material_basis_in trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.

parasitic ichthyosporea infectious disease is a parasitic infectious disease that involves parasitic infection by the members of the class ichthyosporea which are parasites of fish and other animals.

primary systemic mycosis is a systemic mycosis that results_in infection located_in human body has_material_basis_in fungi which can overcome the physiological and cellular defences of the normal human host. the primary deep pathogens usually gain access to the host via the respiratory tract.

aniseikonia is a refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.

alkhurma hemorrhagic fever is a viral infectious disease that is a hemorrhagic fever has_material_basis_in alkhurma hemorrhagic fever virus which is transmitted by ornithodoros savignyi tick bite transmitted by ingestion of unpasteurized camel milk or transmitted by entry via skin wound. the infection has symptom headache has symptom joint pain has symptom muscle pain has symptom vomiting has symptom thrombocytopenia and has symptom hemorrhagic fever.

congenital hypothyroidism is a hypothyroidism that is present at birth.

lacrimoauriculodentodigital syndrome 1 is a syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the fgfr2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts ears teeth and fingers and toes.

enlarged vestibular aqueduct is a vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.

bradyopsia is a retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions.

hypophosphatemia is a phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain skeletal deformities and osteoarthritis.

primary bacterial infectious disease is a bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal healthy host and their intrinsic virulence is in part a necessary consequence of their need to reproduce and spread.

commensal bacterial infectious disease is a bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident by intent (surgery) or by an underlying metabolic or an infectious disorder.

opportunistic bacterial infectious disease is a bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.

foodborne botulism is a botulism that involves intoxication caused by botulinum neurotoxins (bonta b e and f) which are transmitted by ingestion of food contaminated with preformed toxins has_material_basis_in clostridium botulinum a has_material_basis_in clostridium botulinum b has_material_basis_in clostridium botulinum e and has_material_basis_in clostridium botulinum f. the infection has symptom blurred vision has symptom diplopia has symptom dysarthria has symptom dysphonia has symptom dysphagia and has symptom descending muscle paralysis.

wound botulism is a botulism that involves intoxication caused by botulinum neurotoxins (bonta b e and f) has_material_basis_in clostridium botulinum a has_material_basis_in clostridium botulinum b has_material_basis_in clostridium botulinum e and has_material_basis_in clostridium botulinum f which are transmitted by contact of spores with the open wounds which then reproduce in an anaerobic environment to produce toxins.

infant botulism is a botulism that involves intoxication caused by botulinum neurotoxins (bonta or b) in infants has_material_basis_in clostridium botulinum a or has_material_basis_in clostridium botulinum b which are transmitted_by ingestion of bacterial spores which then grow in the intestine and release toxins. the infection has_symptom constipation has_symptom lethargy has_symptom difficulty feeding has_symptom swallowing has_symptom ptosis has_symptom loss of head control and has_symptom muscle weakness.

glandular tularemia is a tularemia that results_in swelling of regional lymph glands.

typhoidal tularemia is a tularemia that results_in bacteremia and has_symptom fever has_symptom chills has_symptom myalgia has_symptom malaise and has_symptom weight loss.

nonpapillary renal cell carcinoma is a hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.

carrion's disease is a bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells has_material_basis_in bartonella bacilliformis which is transmitted_by sandflies of genus lutzomyia. the infection has acute and chronic phases. the acute phase is characterized by severe hemolytic anemia and transient immunosuppression. the chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.

complement factor i deficiency is a complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.

familial adenomatous polyposis is an intestinal disease that has_material_basis_in mutations in the apc gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.

restless legs syndrome is a central nervous system disease characterized by throbbing pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.

stevens-johnson syndrome is a skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. the disease is often precipitated by the use of medications such as antibiotics or antiepileptics or onset of infection.

xeroderma pigmentosum is a syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of dna repair.

nonepidermolytic palmoplantar keratoderma is a palmoplantar keratosis characterized by a well-demarcated symmetric keratoderma located_in palms and located_in soles.

hailey-hailey disease is a pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the atp2c1 gene that result in loss of adhesion within the skin.

multiple endocrine neoplasia type 2a is a multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid pheochromocytoma hyperparathyroidism and occasionally cutaneous lichen amyloidosis.

arrhythmogenic right ventricular cardiomyopathy is an intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle with fibrofatty replacement of the right ventricular myocardium with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.

asperger syndrome is an autism spectrum disorder that is characterized by significant difficulties in social interaction along with restricted and repetitive patterns of behavior and interests. it differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.

fatal familial insomnia is a prion disease that is characterized by insomnia hallucinations dementia and death located_in the brain.

andersen-tawil syndrome is a long qt syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the kcnj2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia) low-set ears and an abnormal curvature of the fingers called clinodactyly.

mulibrey nanism is a syndrome that is characterized by global growth retardation of the muscle liver brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the trim37 gene.

danon disease is a lysosomal storage disease that is characterized by cardiomyopathy skeletal myopathy and intellectual disability and has_material_basis_in mutations in the lamp2 gene.

frasier syndrome is a syndrome that is characterized by gonadal dysgenesis streak gonads progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the wt1 gene.

usher syndrome is a syndrome characterized by a combination of hearing loss and visual impairment.

familial partial lipodystrophy is a partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

mucosulfatidosis is a sphingolipidosis that is characterized by leukodystrophy ichthyosis skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the sumf1 gene that results in deficiency in multiple sulfatase enzymes.

infantile refsum disease is a peroxisomal disease that is characterized by neurological impairment intellectual disability hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid secondary to mutation in the pex genes.

x-linked dominant hypophosphatemic rickets is a rickets has_material_basis_in x-linked mutations in the phex gene that lead to increased circulating levels of fgf-23 a phosphate-regulating hormone (phosphatonin) that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.

white sponge nevus is a skin disease characterized by a defect in the normal process of keratinization of the mucosa.

pachyonychia congenita is a syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.

gitelman syndrome is a renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or nacl) from urine back into the bloodstream thus impairing the kidneys' ability to reabsorb salt leading to the loss of excess salt in the urine (salt wasting).

brugada syndrome is a heart conduction disease that is characterized by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death.

mevalonic aciduria is a peroxisomal disease that is characterized by cortical atrophy microcephaly dysmorphic facies muscular hypotonia and intellectual disability and has_material_basis_in mutation in the mvk gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.

lissencephaly is a congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.

periventricular nodular heterotopia is a congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

buruli ulcer disease is a primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue has_material_basis_in mycobacterium ulcerans which could be transmitted_by insects. the bacterium produces a toxin named mycolactone which causes subcutaneous fat necrosis and inhibits an immune response. the infection has_symptom nodule which is a painless mobile swelling in the skin.

sertoli cell-only syndrome is a male infertility disease characterized by male sterility has_material_basis_in azospermia without abnormal sexual development.

juvenile myelomonocytic leukemia is a myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.

hyperphosphatemia is a phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues results from abnormal phosphorus metabolism and has_material_basis_in mutations in the fgf23 galnt3 or kl gene.

wolf-hirschhorn syndrome is a chromosomal deletion syndrome that is characterized by distinct craniofacial features hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.

aspartylglucosaminuria is a lysosomal storage disease that is characterized by delayed speech at 2-3 years of age has_material_basis_in mutations in the aga gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes preventing the normal breakdown of glycoproteins.

antley-bixler syndrome with disordered steroidogenesis is an antley-bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the fgfr2 gene.

campomelic dysplasia is an osteochondrodysplasia that has_material_basis_in heterozygous mutation in the sox9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones especially in the lower extremities as well as by hypoplastic scapulae narrow iliac wings and nonmineralized thoracic pedicles.

farber lipogranulomatosis is a lipid storage disease that is characterized by abnormalities in swallowing cognition joint function and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.

muir-torre syndrome is a lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract genitourinary tract and skin that has_material_basis_in mutations in dna mismatch repair genes.

loeys-dietz syndrome is a syndrome that is characterized by increased risk of aortic aneurysm and dissection elongated limbs hypertelorism bifid uvula and easy skin bruising due to mutations in tgfb3 that results in connective tissue defects.

erythrokeratodermia variabilis is a skin disease that is characterized by areas of sharply demarcated brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.

yellow nail syndrome is a syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle grow slowly and are loose or detached.

costello syndrome is a rasopathy characterized by craniofacial dysmorphology cardiac defects mild mental retardation and high birth weight followed by a failure to thrive and developmental delays.

donohue syndrome is a syndrome that is characterized by protuberant and low-set ears flaring nostrils thick lips enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the insr gene causing abnormalities in the insulin receptor.

carney complex is a syndrome characterized by myxomas spotty pigmentation of the skin and endocrine overactivity.

monilethrix is a hair disease that is characterized by short easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type ii hair cortex keratins.

alstrom syndrome is a syndrome that is characterized by multiorgan dysfunction. the key features are childhood obesity blindness due to congenital retinal dystrophy and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the alms1 gene.

netherton syndrome is a skin disease that is characterized by chronic skin inflammation trichorrhexis invaginata atopic dermatitis and has_material_basis_in mutations in the spink5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.

weill-marchesani syndrome is a syndrome characterized by short stature brachycephaly and other facial abnormalities brachydactyly joint stiffness and distinctive ocular abnormalities.

barth syndrome is a 3-methylglutaconic aciduria that has_material_basis_in x-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.

liddle syndrome is a renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.

epidemic typhus is a typhus that has_material_basis_in rickettsia prowazekii which is transmitted by human body louse (pediculus humanus corporis). the infection has_symptom high fever has_symptom cough has_symptom rash has_symptom severe muscle pain has_symptom chills has_symptom falling blood pressure has_symptom stupor has_symptom sensitivity to light and has_symptom delirium.

endemic typhus is a typhus that has_material_basis_in rickettsia typhi or has_material_basis_in rickettsia felis which are transmitted by fleas (xenopsylla cheopis). the infection has symptom headache has symptom fever has symptom chills has symptom myalgia has symptom nausea has symptom vomiting has symptom cough and has symptom rash.

aneruptive fever is a spotted fever that has_material_basis_in rickettsia helvetica which is transmitted_by ticks (ixodes sp). the infection has_symptom fever has_symptom headache has_symptom myalgia.

sennetsu fever is a primary bacterial infectious disease that results_in infection has_material_basis_in neorickettsia sennetsu which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. the infection has_symptom fever has_symptom malaise has_symptom anorexia has_symptom lymphadenopathy has_symptom hepatosplenomegaly has_symptom fatigue has_symptom chills has_symptom headache has_symptom backache and has_symptom myalgia.

exanthem is a skin disease that is characterized by a rash that results from a variety of causes including bacteria viruses toxins drugs and autoimmune disorders.

bacterial exanthem is an exanthem that is characterized by a diffuse reddened blanchable finely papular sandpaper like rash due to infection by group a streptococcus and the production of an erythrogenic toxin.

early congenital syphilis is a congenital syphilis that is manifested during the first 3 months of life. the infection has_symptom skin lesions has_symptom lymphadenopathy has_symptom hepatosplenomegaly has_symptom failure to thrive has_symptom blood-stained nasal discharge has_symptom perioral fissures has_symptom meningitis has_symptom choroiditis has_symptom hydrocephalus has_symptom seizures has_symptom intellectual disability has_symptom osteochondritis and has_symptom pseudoparalysis.

multinodular goiter is a goiter characterized by a multinodular enlargement of the thyroid gland.

parenchymatous neurosyphilis is a tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. the infection has_symptom irritability has_symptom difficulty concentrating has_symptom deterioration of memory has_symptom defective judgment has_symptom headaches has_symptom insomnia has_symptom fatigue and has_symptom lethargy.

meningovascular neurosyphilis is a tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. the infection has_symptom headache has_symptom neck stiffness has_symptom dizziness has_symptom behavioral abnormalities has _symptom poor concentration has_symptom memory loss has _symptom lassitude has_symptom insomnia has_symptom blurred vision has_symptom weakness and wasting of shoulder-girdle and arm muscles has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both and has_symptom paralysis of the legs due to thrombosis of spinal arteries.

exanthema subitum is a viral infectious disease that results_in infection in infants and children located_in skin has_material_basis_in human herpesvirus 6 or has_material_basis_in human herpesvirus 7 and has_symptom sudden high fever and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.

variola major is a smallpox that results_in severe infection located_in skin has_material_basis_in variola virus. the infection results_in_formation_of lesions.

spinal polio is a paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord has_material_basis_in human poliovirus 1 has_material_basis_in human poliovirus 2 or has_material_basis_in human poliovirus 3 which are transmitted by ingestion of food or water contaminated with feces or transmitted by direct contact with the oral secretions. the infection has symptom difficulty breathing and has symptom paralysis of arms and legs.

bulbospinal polio is a paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord has_material_basis_in human poliovirus 1 has_material_basis_in human poliovirus 2 or has_material_basis_in human poliovirus 3 which are transmitted by ingestion of food or water contaminated with feces or transmitted by direct contact with the oral secretions. the infection has symptom difficulty breathing has symptom difficulty swallowing and has symptom paralysis of arms and legs.

paralytic poliomyelitis is a poliomyelitis that results in destruction located in motor neurons of central nervous system has_material_basis_in human poliovirus 1 has_material_basis_in human poliovirus 2 or has_material_basis_in human poliovirus 3 which are transmitted by ingestion of food or water contaminated with feces or transmitted by direct contact with the oral secretions. the infection has symptom loss of reflexes has symptom muscle spasms and has symptom acute flaccid paralysis.

o'nyong'nyong fever is a viral infectious disease that results_in infection located_in joint has_material_basis_in onyong-nyong virus which is transmitted_by anopheles gambiae and transmitted_by anopheles funestus mosquitoes. the infection has_symptom fever has_symptom arthralgia has_symptom rash and has_symptom lymphadenitis.

barmah forest virus disease is a viral infectious disease that results_in infection located_in joint has_material_basis_in barmah forest virus which is transmitted_by mosquito bite. the infection has_symptom fever has_symptom arthralgia and has_symptom rash.

ross river fever is a viral infectious disease that results_in infection located_in joint has_material_basis_in ross river virus which is transmitted_by culex and transmitted_by aedes mosquitoes. the infection has_symptom fever has_symptom arthralgia and has_symptom rash.

oropouche fever is a viral infectious disease that results in infection has_material_basis_in oropouche virus which is transmitted by biting midge culicoides paraensis. the infection has symptom fever has symptom chills has symptom headache has symptom anorexia has symptom muscle pain has symptom joint pain and has symptom vomiting.

balkan hemorrhagic fever is a hemorrhagic fever with renal syndrome that results in infection located in kidney has_material_basis_in dobrava-belgrade virus which is transmitted by yellow-necked field mouse apodemus flavicollis. the infection has symptom headache has symptom fever has symptom muscle pains has symptom facial flush has symptom petechiae has symptom proteinuria and has symptom renal failure.

adult t-cell leukemia/lymphoma is a t-cell acute leukemia that results_in abnormal increase of lymphocytes derives_from t-cells has_material_basis_in human t-lymphotropic virus 1 (htlv-1) which is transmitted_by sexual contact transmitted_by contaminated needles used by intravenous-drug users and transmitted_by breast feeding. the infection results_in_formation_of skin lesions.

maturity-onset diabetes of the young is a diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the mody genes impacting beta-cell function typically occurring before 25 years of age and caused by primary insulin secretion defects.

gamstorp-wohlfart syndrome is a syndrome characterized by progressive weakness and atrophy of muscles in feet legs and hands. in some patients the syndrome also causes decreased sensitivity to touch heat or cold particularly in the lower arms or legs.

nonphotosensitive trichothiodystrophy 4 is a syndrome that is characterized by brittle hair short stature decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the ttdn1 gene.

adult spinal muscular atrophy is a spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the smn1 or smn2 genes that are required for the survival of motor neurons.

intermediate spinal muscular atrophy is a childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure develops in children between the ages of 6 and 12 months and drastically reduces length of life and has_material_basis_in mutations in the smn1 or smn2 genes that are required for the survival of motor neurons.

congenital stationary night blindness is a hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common erg findings of reduced or absent b-waves and generally normal a-waves.

exudative vitreoretinopathy is a retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.

posterior polar cataract is a cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.