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What is hypohidrotic ectodermal dysplasia? | A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). |
What is colon cancer? | A colorectal cancer that is located_in the colon. |
What is nodular lung tuberculosis? | A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. |
What is ssRNA-RT virus infectious disease? | A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. |
What is Mumps virus orchitis? | A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. |
What is Apicomplexa infectious disease? | An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans. |
What is mouth disease? | A gastrointestinal system disease that is located_in the mouth. |
What is congenital intrinsic factor deficiency? | A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. |
What is Van Maldergem syndrome? | A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. |
What is benign neonatal seizures? | A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. |
What is cardiomyopathy? | A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. |
What is carp allergy? | A fish allergy triggered by Cyprinus carpio. |
What is bone marrow cancer? | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
What is erysipeloid? | A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. |
What is neonatal period electroclinical syndrome? | An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. |
What is parotid gland adenoid cystic carcinoma? | A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. |
What is meningitis? | Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. |
What is asbestosis? | A pneumoconiosis caused by inhalation and retention of asbestos fibers. |
What is herpetic gastritis? | A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. |
What is anosognosia? | An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. |
What is Warsaw breakage syndrome? | A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It is caused by homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. |
What is cancer? | A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. |
What is blind loop syndrome? | An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. |
What is inclusion body myositis? | A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. |
What is bipolar I disorder? | A bipolar disorder that is characterized by at least one manic or mixed episode. |
What is pneumocystosis? | An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. |
What is nonspecific interstitial pneumonia? | An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. |
What is encephalitozoonosis? | A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. |
What is Pseudocoelomata infectious disease? | A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. |
What is bile duct adenoma? | An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. |
What is anal carcinoma? | A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. |
What is lung squamous cell carcinoma? | A non-small cell lung carcinoma that has_material_basis_in the squamous cell. |
What is myotonic dystrophy type 2? | A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. |
What is pericardial tuberculosis? | An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. |
What is maple bark strippers' lung? | An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. |
What is tinea profunda? | A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. |
What is Scopulariopsis infectious disease? | An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. |
What is hordeolum? | Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. |
What is appendix carcinoid tumor? | An appendix cancer that has_material_basis_in neurodendocrine cells. |
What is bartonellosis? | A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. |
What is babesiosis? | A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. |
What is severe congenital neutropenia? | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
What is glioblastoma proneural subtype? | A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. |
What is salt and pepper syndrome? | An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. |
What is immune system cancer? | An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. |
What is tyrosinemia? | An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. |
What is musculoskeletal system disease? | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
What is kidney failure? | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. |
What is migraine? | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
What is bone development disease? | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
What is bronchus carcinoma? | A bronchus cancer that has_material_basis_in epithelial cells. |
What is temtamy preaxial brachydactyly syndrome? | An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. |
What is tyrosinemia type II? | A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. |
What is vaginal adenosarcoma? | A vaginal carcinosarcoma derives_from the glands that line the uterus. |
What is McKusick type metaphyseal dysplasia? | A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair. |
What is hyperinsulinemic hypoglycemia? | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
What is chronic laryngitis? | A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. |
What is hydrolethalus syndrome? | An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. |
What is subcutaneous mycosis? | A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. |
What is punctate palmoplantar keratoderma? | A palmoplantar keratosis characterized by keratoses with a \raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." |
What is Rhabdoviridae infectious disease? | A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. |
What is common wart? | A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. |
What is paranasal sinus cancer? | A respiratory system cancer that is located_in the paranasal sinuses. |
What is placental abruption? | A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. |
What is epilepsy with generalized tonic-clonic seizures? | An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. |
What is adult desmoplastic small round cell tumor? | A desmoplastic small round-cell tumor that primarily is located_in the abdomen. |
What is substance dependence? | A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. |
What is hyperthyroidism? | A thyroid gland disease that involves an over production of thyroid hormone. |
What is tuberculous epididymitis? | An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. |
What is renal-hepatic-pancreatic dysplasia? | A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. |
What is wound botulism? | 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. |
What is thymus adenocarcinoma? | A thymic carcinoma that derives_from epithelial cells of glandular origin. |
What is vasculitis? | A vascular disease that is characterized by inflammation of the blood vessels. |
What is peritoneal benign neoplasm? | An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. |
What is herpes zoster iridocyclitis? | An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. |
What is multiple endocrine neoplasia type 1? | An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. |
What is swine vesicular disease? | An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. |
What is Emery-Dreifuss muscular dystrophy? | A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. |
What is polyhydramnios? | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
What is anus sarcoma? | A sarcoma and malignant neoplasm of anus that is located_in the anus. |
What is CD3epsilon deficiency? | A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. |
What is verbal auditory agnosia? | An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. |
What is mineral metabolism disease? | An acquired metabolic disease that is characterized by abnormal mineral metabolism. |
What is bipolar disorder? | A mood disorder that involves alternating periods of mania and depression. |
What is pleurisy? | A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. |
What is nasopharyngeal diphtheria? | A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic \bullneck\" apprearance." |
What is acute allergic serous otitis media? | A acute serous otitis media caused by an allergen. |
What is Behcet's disease? | A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. |
What is adenovirus infectious disease? | A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. |
What is tricuspid valve stenosis? | A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. |
What is lacrimal gland adenocarcinoma? | A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. |
What is developmental coordination disorder? | A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. |
What is Fanconi's anemia? | A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. |
What is granular cell carcinoma? | A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. |
What is aspiration pneumonia? | A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. |
What is papillary squamous carcinoma? | A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. |
What is dyskinetic cerebral palsy? | A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. |
What is sclerosteosis? | A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. |
What is Ohdo syndrome? | A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. |
What is anthrax disease? | A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. |
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