paroxysmal cold hemoglobinuria

description: Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.


ovarian epithelial tumor

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

description: A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.


hemimegalencephaly

description: Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.


name: Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities


cataract-glaucoma syndrome

description: Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.


polycystic kidney disease

description: A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.


name: cryptogenic multifocal ulcerous stenosing enteritis


Choking

description: Interference with respiration by compression or obstruction of the larynx or trachea.


Chylopericardium

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

description: Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.


Embolus

description: A mass of clotted blood or other formed elements, such as bubbles of air, calcium fragments, etc. brought by the blood from another vessel and forced into a smaller one, thus obstructing the circulation.


name: Increased susceptibility to schizophrenia


Tetraparesis

description: Weakness of all four limbs.


name: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

description: A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.


Benign Supratentorial Neoplasms

description: A neoplasm that arises from above the cerebellar tentorium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


Aplasia/Hypoplasia of the mandible

description: Absence or underdevelopment of the mandible.


atypical juvenile parkinsonism

description: Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.


Schilder disease

description: Schilder's disease is a progressive demyelinating disorder of the central nervous system.


name: Calcium Pyrophosphate Dihydrate Deposition


athetoid cerebral palsy

description: A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


spastic cerebral palsy

description: A form of cerebral palsy wherein spasticity is the exclusive impairment present.


hypotonic cerebral palsy

description: A type of cerebral palsy characterized by decreased muscle tone.


mixed cerebral palsy

description: A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.


pituitary dwarfism

description: Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.


colon adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the colon


description: An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.


malignant endocrine neoplasm

description: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


myxoma

description: A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.


Adolescent Gynecomastia

description: Gynecomastia that occurs during puberty and is not due to exogenous substances or disease processes.


name: Human Transmissible Spongiform Encephalopathies, Inherited


sporadic Creutzfeldt-Jakob disease

description: Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).


hibernoma

description: A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.


familial multiple lipomatosis

description: Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.


ocular cicatricial pemphigoid

description: Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.


Hypoparathyroidism, Autosomal Recessive

description: Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb.


intraepithelial neoplasia

description: A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).


name: breasts and/or nipples, aplasia or hypoplasia of, 1


de Barsy syndrome

description: A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.


name: Capillary Malformation Without Arteriovenous Malformation


Sporadic Retinoblastoma

description: A retinoblastoma that occurs in a patient without a family history of the disease.


microphthalmia, isolated, with coloboma

description: A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.


name: multifocal pattern dystrophy simulating fundus flavimaculatus

description: Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.


Congenital facial diplegia

description: Facial diplegia (that is, bilateral facial palsy) with congenital onset.


Dysmetria

description: A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.


King-Denborough syndrome

description: A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.


name: Minicore Myopathy, Moderate, with Hand Involvement


name: Multicore Myopathy, Moderate, with Hand Involvement


name: moderate multiminicore disease with hand involvement


name: Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber


AA amyloidosis

description: Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.


generalized pustular psoriasis

description: A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.


Hemeralopia

description: A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.


Micropsia

description: An alteration in visual perception that causes objects to appear smaller than their actual size.


Macropsia

description: An alteration in visual perception that causes objects to appear larger than their actual size.


Metamorphopsia

description: A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.


Visual impairment

description: Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.


myotonic syndrome

description: An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.


Widespread Chronic Pain

description: A condition in which the nerves register normal stimuli (lack of tissue injury) as pain, resulting in feelings of intense pain with even minor sensory input.


carotid body paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.


jugulotympanic paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.


carcinoid syndrome

description: A syndrome characterized by signs and symptoms caused by advanced carcinoid tumors. They include skin flushing, diarrhea, wheezing, and tachycardia.


name: Paragangliomas with Sensorineural Hearing Loss


name: qualitative or quantitative defects of beta-sarcoglycan


radial hemimelia

description: Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.


Madelung deformity

description: Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.


Prader-Willi-like syndrome

description: Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.


hot water reflex epilepsy

description: Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


GLUT1 deficiency syndrome

description: An epileptic encephalopathy resulting from impaired glucose transport into the brain.


proximal renal tubular acidosis

description: Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.


distal renal tubular acidosis

description: Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.


neurocirculatory asthenia

description: A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.


personality disorder

description: A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.


congenital sodium diarrhea

description: Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


autoimmune hemolytic anemia, cold type

description: Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).


neoplasm of thorax

description: A neoplasm (disease) that involves the thoracic segment of trunk.


ovarian small cell carcinoma

description: A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.


name: Progressive Proximal Myelopathic Muscular Atrophy


name: scapuloperoneal spinal muscular atrophy, autosomal recessive


bipolar II disorder

description: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.


Motor tics

description: Movement-based tics affecting discrete muscle groups.


Phonic tics

description: Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.


hereditary motor neuron disease

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


name: X-linked intellectual disability with isolated growth hormone deficiency


Spastic paraplegia

description: Spasticity and weakness of the leg and hip muscles.


name: SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT


mixed gonadal dysgenesis

description: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.


Gastric varix

description: Extreme dilation of the submucusoal veins in the stomach.


benign neoplasm of testis

description: A benign neoplasm that involves the testis.


Peutz-Jeghers polyp

description: A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002


name: Neoplasm of uncertain or unknown behavior of testis


Sulfocysteinuria

description: A increased concentration of sulfocysteine in the urine.


Wildervanck syndrome

description: Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.


name: Unilateral Multicystic Dysplastic Kidney


name: Bilateral Multicystic Dysplastic Kidneys


schizophrenia 1

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.


clear cell sarcoma of kidney

description: A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.


acral lentiginous melanoma

description: A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.


autoimmune thyroid disease

description: Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.


Inguinal hernia

description: Protrusion of the contents of the abdominal cavity through the inguinal canal.


Sydenham chorea

description: A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.


Paroxysmal dyskinesia

description: Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.


name: Choreoathetosis And Congenital Hypothyroidism


age related macular degeneration 10

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene.


name: autoinflammatory syndrome, familial, Behcet-like


name: Central Nervous System Neoplasms, Primary

description: A benign or malignant neoplasm that arises from the brain or the spinal cord.


cap myopathy

description: Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.


dysautonomia

description: An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.


central congenital hypothyroidism

description: Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.


Primary hypothyroidism

description: A type of hypothyroidism that results from a defect in the thyroid gland.


name: Familial amyloid polyneuropathy, type VI


name: Familial Amyloid Neuropathy, Portuguese Type


name: Familial Amyloid Polyneuropathy, Jewish Type


ATTRV122I amyloidosis

description: A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.


name: temperature-sensitive oculocutaneous albinism type 1

description: Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).


bifid uvula

description: Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.


cleft soft palate

description: Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.


Submucous cleft hard palate

description: Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.


name: Cleft Palate, Isolated, And Mental Retardation


name: Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia

description: A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the VCP gene, encoding transitional endoplasmic reticulum ATPase.


name: Fetus or newborn affected by alcohol transmitted via placenta or breast milk


name: Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma


von Willebrand disease type 2A

description: Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.


von Willebrand disease type 2B

description: A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.


von Willebrand disease type 2M

description: A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.


von Willebrand disease type 2N

description: Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).


description: Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.


central precocious puberty

description: Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).


idiopathic central precocious puberty

description: Central precocious puberty for which no underlying cause can be identified.


schizophrenia 10

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.


Thyroid dysgenesis

description: A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


WHIM syndrome

description: An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis.


myoclonic epilepsy of Lafora 2

description: Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.


Imerslund-Grasbeck syndrome

description: Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


name: Noonan syndrome-like disorder with loose anagen hair

description: Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.


hypophosphatemic rickets

description: Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.


Galloway-Mowat syndrome

description: Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.


name: Congenital muscular dystrophy Paradas type


familial mitral valve prolapse

description: An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.


Prolonged neonatal jaundice

description: Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.


teratoma

description: A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


congenital hydronephrosis

description: Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.


epithelial neoplasm

description: A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.


glandular cell neoplasm

description: A benign or malignant, primary or metastatic epithelial neoplasm affecting the glandular cells.


name: spondyloepimetaphyseal dysplasia, Bieganski type

description: A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.


name: Hereditary X-Linked Recessive Spastic Paraplegia


name: X-Linked, Spastic Paraplegia, Hereditary


Auditory hallucination

description: Perception of sounds without auditory stimulus.


Visual hallucination

description: Visual perception in the absence of a visual stimulus.


Olfactory hallucination

description: Perception of smell without olfactory stimulus.


name: Focal sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.


Tactile hallucination

description: Perception of touch without a tactile stimulus.


Hypnagogic hallucination

description: Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.


Somatic hallucination

description: A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.


Hypnopompic hallucination

description: Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.


kaposiform hemangioendothelioma

description: Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.


description: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.


Euthyroid goiter

description: A goiter that is not associated with functional thyroid abnormalities.


reading disorder

description: A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.


name: blepharophimosis - intellectual disability syndrome, Ohdo type

description: Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.


Goldmann-Favre syndrome

description: A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).


adjustment disorder

description: A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.


name: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease


name: Congenital absence, atresia and stricture of auditory canal (external)


name: Congenital atresia or stricture of osseous meatus


endometrioid adenocarcinoma

description: An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.


acrofacial dysostosis Rodriguez type

description: Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.


acroosteolysis

description: A condition that is characterized by degeneration of the distal phalanges.


name: atrial septal defect, sinus venosus type

description: An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.


name: congenital dyserythropoietic anemia type 1

description: Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.


testicular microlithiasis

description: The deposition of calcium phosphate microliths within the seminiferous tubules.


X-linked chondrodysplasia punctata

description: X-linked form of chondrodysplasia punctata.


2q24 microdeletion syndrome

description: 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


name: PMP22-RAI1 contiguous gene duplication syndrome


name: multiple benign circumferential skin creases on limbs


name: bile acid CoA ligase deficiency and defective amidation

description: Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.


odontoleukodystrophy

description: Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.


Atkin-Flaitz syndrome

description: Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.


name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11


Schizophrenia, Childhood

description: Schizophrenia occurring in childhood.


polyvalvular heart disease syndrome

description: Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.


breast mucinous carcinoma

description: An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.


name: Autosomal Recessive Cerebellar Ataxia Type 1


antecubital pterygium syndrome

description: Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.


ovarian Sertoli-Leydig cell tumor

description: A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.


Sertoli cell tumor

description: A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.


Sertoli-Leydig cell tumor

description: A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.


pulmonary blastoma

description: A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.


name: myelodysplastic syndrome with ring sideroblasts

description: Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.


nut midline carcinoma

description: A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.


osteopoikilosis

description: A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.


Irritability

description: A proneness to anger, i.e., a tendency to become easily bothered or annoyed.


Alzheimer disease 19

description: Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


congenital hydrocephalus

description: Hydrocephalus that is present at birth.


Post-Traumatic Hydrocephalus

description: Evidence of post-traumatic hydrocephalus.


name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

description: Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.


cryptophthalmia

description: A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.


dysembryoplastic neuroepithelial tumor

description: A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B


name: Infantile free sialic acid storage disease


name: Cone rod dystrophy amelogenesis imperfecta


scimitar syndrome

description: Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.


striatonigral degeneration

description: A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.


pure autonomic failure

description: Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.


name: vitamin B12-responsive methylmalonic acidemia, type cblDv2


stromal corneal dystrophy

description: The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.


vibratory urticaria

description: This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.


vibratory angioedema

description: Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.


name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

description: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.


name: Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss


name: thyroid gland oncocytic follicular carcinoma

description: A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.


pontocerebellar hypoplasia type 2

description: Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.


name: microcephaly, epilepsy, and diabetes syndrome


occipital encephalocele

description: A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset


Speech apraxia

description: A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


name: autosomal dominant Charcot-Marie-Tooth disease type 2K

description: Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.


name: Charcot-Marie-Tooth disease axonal type 2H

description: Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


name: Asperger syndrome, X-linked, susceptibility to, 1


name: therapy related acute myeloid leukemia and myelodysplastic syndrome

description: An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)


name: acute myeloid leukemia with multilineage dysplasia

description: An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.


description: X-linked form of Dyggve-Melchior-Clausen disease.


Sinus Histiocytosis

description: A morphologic finding indicating the presence of histiocytic infiltrates within distended lymph node sinuses.


aprosencephaly

description: A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


name: Hereditary acrokeratotic poikiloderma of Weary


Beemer-Langer syndrome

description: Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


name: Retinitis Pigmentosa, Juvenile, SPATA7-Related


name: biliary atresia with splenic malformation syndrome

description: Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.


Cerebral atrophy

description: Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.


Rotary nystagmus

description: A form of nystagmus in which the eyeball makes rotary motions around the axis.


Horizontal nystagmus

description: Nystagmus consisting of horizontal to-and-fro eye movements.


Vertical nystagmus

description: Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.


Pendular nystagmus

description: Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.


Seesaw nystagmus

description: Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.


name: hereditary palmoplantar keratoderma, Gamborg-Nielsen type

description: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.


mucolipidosis

description: A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.


name: scoliosis, isolated, susceptibility to, 1


Focal aware seizure

description: A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.


Focal emotional seizure with laughing

description: Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.


Subclinical Seizure

description: A seizure with no apparent symptoms.


benign occipital epilepsy

description: Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.


name: Congenital hereditary endothelial dystrophy


TSH-secreting pituitary adenoma

description: A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.


name: Spondyloocular Syndrome, Autosomal Recessive


xanthoma

description: A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.


hereditary cerebellar ataxia

description: Cerebellar ataxia that is transmitted from parent to child.


Cerebellar Ataxia, Early Onset

description: Evidence of early-onset cerebellar ataxia.


Cerebellar Ataxia, Late Onset

description: Evidence of late-onset cerebellar ataxia.


Oral-pharyngeal dysphagia

description: Difficulty in swallowing due to an abnormality in the mouth or throat.


Esophageal Dysphagia

description: Difficulty in swallowing due to an abnormality in the esophagus.


name: fatty acid hydroxylase-associated neurodegeneration

description: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.


primary central nervous system lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.


low anorectal malformation

description: Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.


Arterial tortuosity

description: Abnormal tortuous (i.e., twisted) form of arteries.


sirenomelia

description: Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.


name: Deafness, Cochlear, with Myopia and Intellectual Impairment


FRAXF syndrome

description: FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.


carnosinemia

description: Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.


schizophrenia 11

description: A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


immune hydrops fetalis

description: Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.


hydatidiform mole

description: A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.


partial hydatidiform mole

description: Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.


complete hydatidiform mole

description: Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.


bifid nose, autosomal recessive

description: Autosomal recessive form of bifid nose.


ischio-vertebral syndrome

description: Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.


name: nodular sclerosis classical Hodgkin lymphoma

description: A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)


name: absence deformity of leg-cataract syndrome

description: Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.


Spontaneous pneumothorax

description: Pneumothorax occurring without traumatic injury to the chest or lung.


name: myopathy, autophagic vacuolar, infantile-onset


central nervous system germinoma

description: A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)


name: Intellectual Disability, Autosomal Dominant 4

description: An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well.


Bitemporal forceps marks

description: Bilateral temporal scarlike defects, which are said to resemble forceps marks.


name: generalized epilepsy with febrile seizures plus, type 6


metabolic acidosis

description: Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.


multi-infarct dementia

description: A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


Berry Aneurysm

description: A small cerebral artery aneurysm, characterized by a saccular appearance, that typically forms at the junction of vessels in the circle of Willis.


Posterior communicating artery aneurysm

description: A widening (ballooning) localized in the wall of the posterior communicating artery.


name: split-hand/foot malformation with long bone deficiency 1


description: A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.


trisomy 13

description: Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.


name: core binding factor acute myeloid leukemia

description: An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.


chromosome 19p13.13 deletion syndrome

description: 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).


progressive familial heart block

description: A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.


polymicrogyria

description: A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


African iron overload

description: African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.


mitochondrial complex III deficiency

description: Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).


name: benign recurrent intrahepatic cholestasis

description: Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).


lactose intolerance

description: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine.  Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.


Griscelli syndrome

description: Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).


herpes zoster

description: A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.


acute necrotizing encephalitis

description: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)


distal 10q deletion syndrome

description: Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.


rosacea

description: A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.


name: microcephalic osteodysplastic dysplasia, Saul-Wilson type

description: A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.


chromosome 18q deletion syndrome

description: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.


name: isolated asymptomatic elevation of creatine phosphokinase

description: Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy


nonsyndromic congenital nail disorder 1

description: Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.


7q11.23 microduplication syndrome

description: 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.


multiminicore myopathy

description: A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.


Lyme disease

description: Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency


faciodigitogenital syndrome

description: A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.


hyperprolinemia

description: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


cerebral cavernous malformation

description: A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.


name: chromosome 3q29 microduplication syndrome

description: 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.


Mayer-Rokitansky-Kuster-Hauser syndrome

description: Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).


familial congenital mirror movements

description: Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.


description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.


trisomy 18

description: Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.


name: autoimmune disorder of central nervous system

description: A hypersensitivity reaction type II disease that involves the central nervous system.


description: Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.


Kleefstra syndrome

description: A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.


DICER1-related tumor predisposition

description: Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.


hyperopia

description: A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)


plantar fibromatosis

description: A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.


prostate carcinoma

description: A carcinoma that arises from epithelial cells of the prostate gland.


swine influenza

description: An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.


dental caries

description: The decay of a tooth, in which it becomes softened, discolored, and/or porous.


gallbladder disorder

description: A disease involving the gall bladder.


name: estrogen-receptor negative breast cancer

description: A subtype of breast cancer that is estrogen-receptor negative


brain glioma

description: A malignant glioma that involves the brain.


primary angle-closure glaucoma

description: An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.


nasal cavity disorder

description: A disease involving the nasal cavity.


plantar wart

description: A wart in the plantar surface of the foot. It is caused by human papillomavirus.


skin carcinoma

description: A carcinoma that arises from epithelial cells of the zone of skin


ileus

description: Decrease in peristalsis in the absence of a mechanical bowel obstruction.


acute pancreatitis

description: An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.


reproductive system disorder

description: A disease involving the reproductive system.


hypertrophic pyloric stenosis

description: An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.


anterior uveitis

description: Inflammation of the iris and anterior chamber of the eye.


gastric cardia carcinoma

description: A carcinoma that arises from epithelial cells of the cardia of stomach.


conduct disorder

description: A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.


neoplasm of mature B-cells

description: A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).


nasopharyngeal disorder

description: A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.


degenerative myopia

description: Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.


photosensitivity disease

description: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.


arterial disorder

description: An impairment of the structure or function of the blood vessels which carry blood away from the heart.


amebiasis

description: A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.


musculoskeletal system disorder

description: A disease involving the musculoskeletal system.


name: estrogen-receptor positive breast cancer

description: A subtype of breast cancer that is estrogen-receptor positive


post-traumatic stress disorder

description: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.


epithelioid cell uveal melanoma

description: A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.


reactive cutaneous fibrous lesion

description: A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.


name: eosinophilic granulomatosis with polyangiitis

description: Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.


vestibular neuronitis

description: Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)


bacterial meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.


proliferative diabetic retinopathy

description: Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.


pneumocystosis

description: Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localized to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.


description: A disease caused by infection with severe acute respiratory syndrome coronavirus 2.


tetanus

description: A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.


syphilis

description: A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.


cryptococcosis

description: An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004


helminthiasis

description: A parasitic infection characterized by the infestation with worms, mainly in the intestine.


toxoplasmosis

description: A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.


colonic disorder

description: Pathological processes in the colon region of the large intestine (intestine, large).


congenital T-cell immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.


vertebral column disorder

description: A disease involving the vertebral column.


vaccinia

description: The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.


central diabetes insipidus

description: Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).


inflammatory bowel disease 5

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.


angioid streaks

description: Small breaks in the elastin-filled tissue of the retina.


Chagas disease

description: A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.


inborn vitamin B12 deficiency

description: Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


Ebola hemorrhagic fever

description: A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.


ptosis

description: The drooping of the upper eyelid.


pain agnosia

description: Loss of the ability to perceive and process pain.


gastritis

description: Inflammation of the stomach.


hiatus hernia

description: Herniation of the upper part of the stomach through the diaphragm.


dyskinesia of esophagus

description: Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).


laryngitis

description: An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.


angiomyolipoma

description: A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.


thyroiditis

description: Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.


endemic goiter

description: Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.


salmonellosis

description: Infections with bacteria of the genus salmonella.


name: vitamin K deficiency hemorrhagic disease

description: Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.


calciphylaxis

description: Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.


giardiasis

description: An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.


common cold

description: An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.


name: congenital vitamin K-dependent coagulation factors deficiency

description: Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.


gingivitis

description: A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.


chikungunya

description: An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.


tubulinopathy

description: A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.


mitochondrial DNA depletion syndrome

description: The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.


subjective cognitive decline

description: A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.


botulism

description: A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.


osteomyelitis

description: An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.


epidural abscess

description: Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)


prediabetes syndrome

description: A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.


name: COVID-19–associated multisystem inflammatory syndrome in children

description: A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.


pyuria

description: The presence of excessive white blood cells in the urine as determined by urinalysis.


rheumatic disorder

description: Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.


staphylococcal scalded skin syndrome

description: A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.


pernicious anemia

description: Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.


dental enamel hypoplasia

description: Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.


microform holoprosencephaly

description: Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.


acquired von willebrand syndrome

description: Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.


angiodysplasia

description: Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.


iris disorder

description: A disease involving the iris.


rheumatic fever

description: A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.


POEMS syndrome

description: POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.