Metaplasia

description: Transformation of a mature, normal cell or groups of mature cells to other forms of mature cells.  The capacity for malignant transformation of metaplastic cells is a subject of controversy.


name: benign connective and soft tissue neoplasm

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.


myxopapillary ependymoma

description: Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.


cellular ependymoma

description: An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)


papillary ependymoma

description: A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)


osteosarcoma

description: A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.


Hemorrhage

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: The flow of blood from a ruptured blood vessel.


Gliosis

description: Gliosis is the focal proliferation of glial cells in the central nervous system.


tobacco addiction, susceptibility to

description: An inherited susceptibility or predisposition to developing nicotine dependence.


thyroid gland papillary carcinoma

description: A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.


sleep-wake disorder

description: Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.


small cell carcinoma

description: A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.


adult T-cell leukemia/lymphoma

description: A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.


acute megakaryoblastic leukemia

description: Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.


leukemia, myeloid, accelerated-phase

description: The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.


Bone fracture

description: A partial or complete breakage of the continuity of a bone.


myopia

description: The condition in which the individual does not see far distances clearly.


peripheral arterial disease

description: A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.


isolated right ventricular hypoplasia

description: Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.


vitamin A deficiency

description: Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


Femur fracture

description: A break or crush injury of the thigh bone (femur).


opioid abuse

description: A substance abuse that involves the recurring use of opioid drugs despite negative consequences.


opiate dependence

description: Disorders related or resulting from abuse or mis-use of opioids.


pulmonary arterial hypertension

description: Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).


pulmonary venoocclusive disease

description: A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.


fetal alcohol spectrum disorder

description: A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.


ameloblastoma

description: The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.


adamantinous craniopharyngioma

description: A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)


papillary craniopharyngioma

description: A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)


mandibular cancer

description: A malignant neoplasm involving the mandible


thyroid cancer

description: A malignant neoplasm involving the thyroid gland


thyroid gland carcinoma

description: A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.


Chromosome breakage

description: Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.


name: hereditary breast ovarian cancer syndrome

description: An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.


mouth disorder

description: A disease involving the mouth.


name: neuronopathy, distal hereditary motor, type 5


Delayed puberty

description: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.


restless legs syndrome

description: A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.


mitochondrial encephalomyopathy

description: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)


congenital dyserythropoietic anemia

description: Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.


inborn error of immunity

description: A disorder in which the immune system is unable to mount an adequate immune response.


lens disorder

description: A disease involving the lens of camera-type eye.


name: Ehlers-Danlos syndrome, periodontitis type

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.


Hereditary Angioedema Types I and II

description: Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated.


irritant dermatitis

description: An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.


juvenile dermatomyositis

description: Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.


age related macular degeneration 14

description: An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.


orofaciodigital syndrome

description: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.


atypical hemolytic-uremic syndrome

description: A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.


pemphigus vulgaris

description: Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).


pemphigus

description: Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus


peritonitis

description: Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.


infectious meningitis

description: Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.


facial dermatosis

description: Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.


meningococcal meningitis

description: An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.


name: frontotemporal dementia with motor neuron disease

description: Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.


Anaplasia

description: A morphologic finding indicating the presence of a malignant cellular infiltrate characterized by the presence of large pleomorphic cells, necrosis, and high mitotic activity in a tissue sample.


breast ductal adenocarcinoma

description: A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.


ductal breast carcinoma in situ

description: A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.


absence epilepsy

description: Epilepsy characterized by very brief episodes of sudden cessation of activity, usually associated with eye blinking. There is no loss of the muscle tone.


childhood absence epilepsy

description: A familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.


hypoglycemia

description: Abnormally low level of glucose in the blood.


sick sinus syndrome

description: A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.


Supraventricular tachycardia

description: Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.


respiratory failure

description: The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.


choreatic disease

description: A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.


epilepsy, idiopathic generalized

description: A chronic condition characterized by recurrent generalized seizures.


inherited aplastic anemia

description: An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.


acute erythroid leukemia

description: An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)


peritoneal neoplasm

description: A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.


migraine disorder

description: A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.


sciatic neuropathy

description: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)


lesion of sciatic nerve

description: A peripheral nerve lesion that involves the sciatic nerve.


optic neuritis

description: Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.


eosinophilic esophagitis

description: Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).


pityriasis rubra pilaris

description: A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).


pleural disorder

description: A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.


alcohol-related disorders

description: Disorders related to or resulting from abuse or mis-use of alcohol.


FG syndrome

description: FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.


hyperhomocysteinemia

description: A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.


diabetic autonomic neuropathy

description: Autonomic neuropathy that is caused by diabetes mellitus.


diabetic neuropathy

description: A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.


human papilloma virus infection

description: An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.


name: Hypocalcemia, Autosomal Dominant, with Bartter Syndrome


familial hypoparathyroidism

description: A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.


toxic or drug-related embryofetopathy

description: Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.


aortic disorder

description: Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)


perinatal asphyxia

description: A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.


drug-induced dyskinesia

description: Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)


keratosis

description: A skin disorder consisting of hypertrophy of the stratum corneum of the skin.


postmenopausal osteoporosis

description: Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.


phobic disorder

description: An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.


Premature birth

description: The birth of a baby of less than 37 weeks of gestational age.


Turner syndrome

description: Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.


name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C

description: A sub-type of limb-girdle muscular dystrophy caused by mutation(s) in the CAV3 gene, encoding caveolin-3.


distal myopathy

description: Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.


Ectopic ossification

description: Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.


description: An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.


homocystinuria

description: An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.


nutritional disorder

description: Any condition related to a disturbance between proper intake and utilization of nourishment.


COACH syndrome

description: A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.


Wallerian degeneration

description: A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.


Hennekam syndrome

description: Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.


hydrops fetalis

description: Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).


hydrocephalus

description: A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.


obstructive hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.


communicating hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


anorexia nervosa

description: A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.


Loss of consciousness

description: Loss of alertness and orientation to place and time.


polyomavirus infectious disease

description: Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


Airway hyperresponsiveness

description: An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.


cutaneous leishmaniasis

description: Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.


Premature Obstetric Labor

description: Regular uterine activity with associated cervical change prior to 37 weeks gestation.


Spinal cord compression

description: External mechanical compression of the spinal cord.


spina bifida

description: A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.


thyroid gland disorder

description: A disease involving the thyroid gland.


alcoholic hepatitis

description: Acute hepatitis resulting from ingestion of alcohol.


name: Hemangioma, Cavernous, Central Nervous System

description: A cavernous hemangioma arising from the central nervous system.


chronic hepatitis B virus infection

description: Chronic form of hepatitis B infection.


cecal neoplasm

description: A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


cecum cancer

description: A malignant neoplasm involving the caecum


squamous papilloma

description: A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.


megalencephaly

description: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).


name: polymicrogyria, bilateral perisylvian, X-linked

description: A type of perisylvian polymicrogyria that affects both sides of the brain.


obstructive lung disease

description: Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.


hepatitis C virus infection

description: A viral infection caused by the hepatitis C virus.


West-Nile encephalitis

description: An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.


West Nile fever

description: A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)


Cachexia

description: Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.


Neoplasms, Radiation-Induced

description: A neoplasm that develops as a result of exposure to radiation.


thymus cancer

description: A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.


measles

description: A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).


name: digestive system neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).


arthritic joint disease

description: An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.


Meier-Gorlin syndrome

description: Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).


parathyroid gland adenoma

description: A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.


Helicobacter pylori infectious disease

description: Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.


liposarcoma

description: A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.


pleomorphic liposarcoma

description: Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.


SAPHO syndrome

description: SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.


peripheral nervous system neoplasm

description: A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


nerve sheath neoplasm

description: A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.


perineurioma

description: A usually benign perineurioma not associated with a nerve, arising from the soft tissues.


trisomy

description: A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.


Neoplasm of the genitourinary tract

description: A tumor (abnormal growth of tissue) of the genitourinary system.


vulvar lichen sclerosus

description: A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.


chronic pancreatitis

description: A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.


exocrine pancreatic insufficiency

description: Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.


transposition of the great arteries

description: A congenital cardiac defect in which two heart vessels are reversed (transposed).


name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance

description: A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)


Hodgkins lymphoma

description: Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.


name: Hodgkin's lymphoma, lymphocytic depletion

description: A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)


Hodgkin's lymphoma, mixed cellularity

description: A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)


adrenal gland disorder

description: A disease involving the adrenal gland.


hemiplegia

description: Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.


ovarian disorder

description: A disease involving the ovary.


uterine disorder

description: A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.


polyploidy

description: Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.


Li-Fraumeni syndrome 2

description: An autosomal dominant cancer predisposition syndrome caused by germline mutations of the CHEK2 gene. It is associated with breast carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, and non-Hodgkin lymphoma.


Ascites

description: Accumulation of fluid in the peritoneal cavity.


urinary bladder disorder

description: A disease involving the urinary bladder.


catatonia

description: A psychiatric disorder featuring stupor, posturing, and echophenomena.


name: Myasthenic Syndrome, Congenital, Fast-Channel


name: Myasthenic syndrome, congenital, postsynaptic slow-channel


auditory perceptual disorders

description: Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.


omphalocele

description: Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.


spina bifida cystica

description: A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


name: Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency


Hypothermia

description: Reduced body temperature due to failed thermoregulation.


thumbs, congenital Clasped

description: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.


description: Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.


obsolete Joint laxity

description: Looseness or instability of a joint.


Fetal Diseases

description: A non-neoplastic or neoplastic disorder which occurs in the fetus.


name: Alcohol-Induced Disorders, Nervous System


name: bacterial infectious disease with sepsis

description: An infectious disease caused by bacteria causing sepsis.


torsion dystonia 7

description: A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.


cold-induced sweating syndrome

description: Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.


familial hyperaldosteronism type II

description: Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.


aspergillosis

description: Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.


Dengue hemorrhagic fever

description: A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.


paralytic ileus

description: An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.


Perrault syndrome

description: Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.


homocarnosinosis

description: Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


amaurosis-hypertrichosis syndrome

description: Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.


binge eating disorder

description: Recurrent episodes of over-eating.


Spasticity

description: A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.


enterovirus infectious disease

description: An disease caused by infection with Enterovirus.


Herniation of intervertebral nuclei

description: The presence of one or more herniated nucleus pulposus of intervertebral disk.


chondromalacia

description: Pathological processes involving the chondral tissue (cartilage).


otospondylomegaepiphyseal dysplasia

description: An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.


Ullrich congenital muscular dystrophy

description: Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.


name: congenital fibrosis of extraocular muscles

description: Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.


name: familial avascular necrosis of femoral head

description: Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.


Ehlers-Danlos syndrome

description: The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.


familial schizencephaly

description: An instance of schizencephaly that is caused by an inherited modification of the individual's genome.


porencephaly

description: Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.


Leiomyoma, Epithelioid

description: A benign or malignant gastrointestinal stromal tumor with epithelioid morphology.


epidermolysis bullosa dystrophica

description: A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.


Fetal anomaly

description: Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.


Ito hypomelanosis

description: Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.


dog disease

description: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used.


Musculoskeletal Pain

description: Pain that originates in the bones, muscles, tendons or ligaments.


name: Schizophrenia Spectrum and Other Psychotic Disorders


temporomandibular joint disorder

description: Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.


coenzyme Q10 deficiency

description: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


name: hearing loss, sensorineural, autosomal-mitochondrial type


name: linear skin defects with multiple congenital anomalies

description: A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.


lingual-facial-buccal dyskinesia

description: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.


iron metabolism disease

description: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.


Iron Overload

description: Accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.g., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death.


anterior segment dysgenesis

description: A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).


amenorrhea

description: The absence of menses in a woman who has achieved reproductive age.


endocrine system disorder

description: A disease involving the endocrine system.


Coma

description: The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.


Hyperammonemia

description: An increased concentration of ammonia in the blood.


morphine dependence

description: Strong dependence, both physiological and emotional, upon morphine.


Rubinstein-Taybi syndrome

description: A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.


Chest pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.


neuroretinitis

description: Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.


retinitis

description: Inflammation of the retina.


stereotypic movement disorder

description: Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)


ectopic pregnancy

description: An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.


Infection

description: The invasion of an organism's body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce.


myocarditis

description: Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.


periodontitis

description: An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.


cerulean cataract

description: Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.


pulverulent cataract

description: A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.


bone Paget disease

description: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.


Leukoencephalopathy

description: This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.


agranulocytosis

description: A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.


aplastic anemia

description: Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.


bone marrow failure syndrome

description: A familial or acquired bone marrow failure syndrome.


eyelid disorder

description: A disease involving the eyelid.


Lymphoma, AIDS-Related

description: An aggressive lymphoma that develops in HIV-positive patients.  There is a significant increase in the incidence of lymphomas associated with the AIDS epidemic.  These lymphomas are usually extranodal, most often express a B-cell phenotype and morphologically are classified as Burkitt, diffuse large B-cell, and Hodgkin lymphomas.  The prognosis is closely related to the severity of immunodeficiency.


gastrointestinal mucositis

description: Inflammation of the mucous membranes lining the gastrointestinal tract.


Neoplasm, Residual

description: Evidence for remaining tumor following primary treatment that is only apparent using highly sensitive techniques.


spindle cell sarcoma

description: A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.


pulmonary alveolar proteinosis

description: A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.


Arthralgia

description: Joint pain.


disease susceptibility

description: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.


Headache

description: Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.


hepatic veno-occlusive disease

description: Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.


leiomyosarcoma

description: An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.


epithelioid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


myxoid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


B-cell neoplasm

description: A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.


scleroderma

description: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).


localized scleroderma

description: Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.


stomatitis

description: Inflammation of the oral mucosa due to local or systemic factors.


Silver-Russell syndrome

description: Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.


advanced sleep phase syndrome

description: A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.


seasonal allergic rhinitis

description: Allergic rhinitis caused by outdoor allergens.


Coats plus syndrome

description: Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.


gastric antral vascular ectasia

description: Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.


name: Leukemia, Megakaryoblastic, of Down Syndrome


Retinal neovascularization

description: In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.


alopecia areata

description: Loss of scalp and body hair involving microscopically inflammatory patchy areas.


graft versus host disease

description: An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.


name: patterned dystrophy of the retinal pigment epithelium


lissencephaly spectrum disorders

description: The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.


Vascular calcification

description: Abnormal calcification of the vasculature.


cystinosis

description: Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.


keratolytic winter erythema

description: Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.


leukoplakia

description: A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.


Hemorrhagic Shock

description: Hypoperfusion of body tissues due to acute blood loss, resulting in cellular injury and vital organ dysfunction.


interstitial cystitis

description: A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.


chronic periodontitis

description: A chronic inflammatory process that affects the tissues that surround and support the teeth.


intermediate coronary syndrome

description: Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.


peptic esophagitis

description: Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.


postherpetic neuralgia

description: Pain that occurs after the disappearance of herpes zoster infection lesions.


streptococcal pneumonia

description: A febrile disease caused by streptococcus pneumoniae.


salmonella infections, animal

description: Infections in animals with bacteria of the genus salmonella.


mastitis

description: Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.


brain infarction

description: Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.


inherited neurodegenerative disorder

description: An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


listeriosis

description: A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.


adrenocortical insufficiency

description: An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


name: Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


hypoaldosteronism disease

description: Abnormally low levels of aldosterone in the blood.


Hyperkalemia

description: An abnormally increased potassium concentration in the blood.


hypopituitarism

description: A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.


Sheehan syndrome

description: An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.


Oligomenorrhea

description: Infrequent menses (less than 6 per year or more than 35 days between cycles).


hypoactive sexual desire disorder

description: A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.


arteritis

description: An inflammatory process affecting an artery.


hamartoma

description: A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.


peripheral vascular disease

description: Any disorder affecting blood flow through the veins or arteries outside of the heart.


Sinus tachycardia

description: Heart rate of greater than 100 beats per minute.


hypercalcemia, infantile

description: A hypercalcemia disease that occurs between 28 days to one year of life.


Hypercalciuria

description: Abnormally high level of calcium in the urine.


focal facial dermal dysplasia

description: Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.


polymyositis

description: A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.


vitamin D-dependent rickets, type 1

description: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


large cell carcinoma

description: A malignant epithelial neoplasm composed of large, atypical cells.


hepatitis B virus infection

description: A viral infection caused by the hepatitis B virus.


opisthorchiasis

description: Infection with flukes of the genus Opisthorchis.


Rhabdomyolysis

description: Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.


Rigidity

description: Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.


name: Autosomal Recessive Hereditary Spastic Paraplegia


2-hydroxyglutaric aciduria

description: 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.


Townes-Brocks syndrome

description: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.


Lassa fever

description: A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.


conjunctival disorder

description: Any disorder of the conjunctiva.


name: horizontal gaze palsy with progressive scoliosis

description: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.


van Maldergem syndrome

description: Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.


subcortical band heterotopia

description: A developmental brain abnormality characterized by atypical migration of neurons during cortical development.


intestinal disorder

description: A non-neoplastic or neoplastic disorder that affects the small or large intestine.


ocular hypertension

description: Abnormally high intraocular pressure.


ulcer disease

description: A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.


name: familial focal epilepsy with variable foci

description: Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


name: atypical hemolytic-uremic syndrome with DGKE deficiency


name: mitochondrial DNA depletion syndrome, hepatocerebral form


Q fever

description: A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.


Reduced blood folate concentration

description: A reduced circulating concentration of folic acid, which is also known as vitamin B9.


multinodular goiter

description: Nodular goiter characterized by more than one discrete tissue mass.


Asperger syndrome

description: A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.


name: Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency


scoliosis

description: A congenital or acquired spinal deformity characterized by lateral curvature of the spine.


name: autosomal recessive spondylocostal dysostosis

description: Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


Myotonia

description: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.


alexia

description: A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.


dyslexia

description: A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.


Shwachman-Diamond syndrome

description: Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.


optic atrophy

description: A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.


name: Cerebellar Ataxia, Deafness, and Narcolepsy


name: Clear-cell metastatic renal cell carcinoma

description: A clear cell renal cell carcinoma that has spread from its original site of growth to other anatomic sites.


name: hereditary sensory and autonomic neuropathy type 1

description: Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.


sensory peripheral neuropathy

description: Inflammation or degeneration of the sensory nerves.


fetal akinesia deformation sequence

description: Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.


varicose disease

description: A vascular disease characterized by the presence of enlarged and tortuous veins.


name: inborn disorder of purine or pyrimidine metabolism


paranoid schizophrenia

description: A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


delusional disorder

description: A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).


impulse control disorder

description: A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.


kleptomania

description: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.


intermittent explosive disorder

description: A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.


pathological gambling

description: A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.


separation anxiety disorder

description: An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.


oppositional defiant disorder

description: A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.


chronic tic disorder

description: A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.


transient tic disorder

description: A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.


tic disorder

description: Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)


cervical dystonia

description: Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.


name: skin fragility-woolly hair-palmoplantar keratoderma syndrome


dentin dysplasia

description: Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.


dentinogenesis imperfecta

description: Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.


oligodendroglioma

description: A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)


childhood oligodendroglioma

description: An oligodendroglioma that arises from the central nervous system and occurs during childhood.


adult oligodendroglioma

description: An oligodendroglioma occurring during adulthood.


oligoastrocytoma

description: A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)


Robinow syndrome

description: Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.


Smith-McCort dysplasia

description: Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.


Miyoshi myopathy

description: A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.


chondrodysplasia punctata

description: A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.


autonomic nervous system disorder

description: A disease involving the autonomic nervous system.


distal arthrogryposis

description: A muscle tissue disease characterized by congenital joint contractures of hand and feet.


auriculocondylar syndrome

description: Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.


hepatorenal syndrome

description: Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant.


Oral ulcer

description: Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.


Urinary retention

description: Inability to completely empty the urinary bladder during the process of urination.


obstructive sleep apnea syndrome

description: Cessation of air flow during sleep due to upper airway obstruction.


name: DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF


Hypertelorism

description: Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


bile duct cancer

description: A malignant neoplasm involving the bile duct


bile duct carcinoma

description: A carcinoma that arises from epithelial cells of the bile duct


hydronephrosis

description: Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.


infertility disorder

description: Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.


vesicular stomatitis

description: A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.


biliary tract cancer

description: A malignant neoplasm involving the biliary tree


Emery-Dreifuss muscular dystrophy

description: Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.


seminoma

description: A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.


testicular seminoma

description: A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.


name: autoimmune disorder of the nervous system

description: A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.


name: Lynch syndrome I (site-specific colonic cancer)


hypopigmentation of the skin

description: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.


Lafora disease

description: Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.


central nervous system disorder

description: A disease involving the central nervous system.


Fatigue

description: A subjective feeling of tiredness characterized by a lack of energy and motivation.


paraneoplastic syndrome

description: A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.


critical illness polyneuropathy

description: Polyneuropathy arising in intensive care unit patients.  It is a common complication of severe sepsis and is thought to represent a neurologic manifestation of systemic inflammatory response syndrome (SIRS).


cardiogenic shock

description: A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.


familial polycythemia

description: Polycythemia that occurs in groups of related individuals.


epidermolytic ichthyosis

description: A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


Cockayne syndrome

description: A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.


premature ovarian failure 11

description: Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.


UV-sensitive syndrome

description: UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.


Feminization

description: The development of secondary female sex characteristics in males.


leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.