Palmar neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.


name: Childhood onset sensorineural hearing impairment

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

description: Sensorineural hearing impairment with childhood onset.


Paraspinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.


renal hypodysplasia/aplasia 1

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

description: The presence of developmental dysplasia of the kidney.


name: Focal impaired awareness cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.


Ollier disease

description: A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.


Peripheral pulmonary artery stenosis

description: Stenosis of a peripheral branch of the pulmonary artery.


malignant mesothelioma

description: A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.


Alveolar septal thickening

description: Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.


Coronary sinus diverticulum

description: A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.


pyoderma

description: Any skin disease that is pyegenic.


Focal-onset epileptic spasm

description: A type of epileptic spasm of focal onset.


eosinophilic fasciitis

description: Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.


Anti-D-L antibody positivity

description: The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum.


Finger syndactyly

description: Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


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.


trigeminal neuralgia

description: Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.


name: Anti-beta-2-Glycoprotein I IgM antibody positivity

description: Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Ventricular hypertrophy

description: Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.


Abnormal tendon morphology

description: An abnormality of the structure or form of the tendons, also often called sinews.


Nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.


Non-motor seizure

description: A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.


Anti-GT1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.


Lupus anticoagulant

description: Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.


anisomastia

description: The presence of asymmetrical breasts.


adrenal cortex neoplasm

description: A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)


Cutaneous hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.


tricuspid valve insufficiency

description: The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.


parotitis

description: Inflammation of the parotid glands.


benign urinary system neoplasm

description: A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.


second branchial cleft anomaly

description: A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.


cardiac arrest

description: Cessation of breathing and/or cardiac function.


congenital velopharyngeal incompetence

description: Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.


akinetic mutism

description: A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)


atypical teratoid rhabdoid tumor

description: Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.


abscess

description: An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.


mediastinum teratoma

description: A teratoma that involves the mediastinum.


name: X-linked hypohidrotic ectodermal dysplasia

description: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.


nipples inverted

description: The presence of nipples that instead of pointing outward are retracted inwards.


name: Focal aware cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.


Abnormality of head or neck

description: An abnormality of head and neck.


exercise-induced malignant hyperthermia

description: Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.


Anti-HLA-B antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


superficial spreading melanoma

description: A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.


Anti-SOX1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.


teeth, fused

description: The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.


cervical rib disease

description: A rib that is attached to a cervical vertebra or enlarged transverse processes.


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.


congenital vertical talus

description: Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.


Nasal hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.


pulmonary embolism

description: The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.


Granulomatous coronary arteritis

description: Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Generalized hypertrichosis

description: Generalized excessive, abnormal hairiness.


commissural facial cleft

description: Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)


bifid nose

description: Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.


gingival recession

description: A loss of gum tissue resulting in an exposure of the roots of the teeth.


familial hypercholesterolemia

description: An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.


2-4 toe syndactyly

description: Syndactyly with fusion of toes two to four.


Rightward direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.


trigonocephaly

description: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


name: Anti-beta 2 glycoprotein I antibody positivity

description: Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).


name: Focal impaired awareness sensory seizure with gustatory features

description: A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.


Lewy body dementia

description: A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.


Abnormality of body weight

description: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


ornithine aminotransferase deficiency

description: A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


name: Focal aware autonomic seizure with lacrimation


name: Anti-centromere protein A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A.


pulmonary tuberculosis

description: A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.


restrictive cardiomyopathy

description: A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.


Myocardial steatosis

description: Steatosis in the myocardium.


Hot water-induced seizure

description: A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.


Anti-dsDNA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.


name: Focal sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.


myositis disease

description: An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.


lumbar spinal stenosis

description: A spinal stenosis that involves the lumbar region of vertebral column.


Abnormal skull morphology

description: An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.


Neoplasm by histology

description: Neoplasm categorized according to type of histological abnormality.


paronychia

description: An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.


name: immunodeficiency due to selective anti-polysaccharide antibody deficiency

description: Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).


Abnormal prostate morphology

description: An abnormality of the prostate.


Focal cognitive seizure

description: A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.


cutaneous vasculitis

description: Inflammation of the blood vessel wall characterized by palpable purpura.


Abnormal ear physiology

description: Any functional anomaly of the ear.


Left ventricular dilatation

description: Enlargement of the chamber of the left heart ventricle.


name: Degeneration of the lateral corticospinal tracts

description: Deterioration of the tissues of the lateral corticospinal tracts.


Renal interstitial foam cells

description: Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.


ankyloglossia

description: A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.


C-cell hyperplasia

description: Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).


L-2-hydroxyglutaric aciduria

description: L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.


congenital syphilis

description: A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.


Focal cognitive seizure with neglect

description: A focal cognitive seizure characterized by neglect as the initial semiological manifestation.


pheochromocytoma

description: Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.


description: Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.


Developmental regression

description: Loss of developmental skills, as manifested by loss of developmental milestones.


secondary adrenal insufficiency

description: A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.


fused mandibular incisors

description: Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.


Focal motor status epilepticus

description: Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


central sleep apnea syndrome

description: A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.


central nervous system disorder

description: A disease involving the central nervous system.


Right unicoronal synostosis

description: Unicoronal synostosis affecting only the right coronal suture.


Craniofacial teratoma

description: A teratoma located in the craniofacial region.


radial heads, posterior dislocation of

description: A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.


hyperglycemia

description: Abnormally high level of glucose in the blood.


multinodular goiter

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


name: Recurrent streptococcus pneumoniae infections

description: Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.


name: neurodegenerative syndrome due to cerebral folate transport deficiency

description: A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.


fibromatosis

description: A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.


Congenital goiter

description: An enlargement of the thyroid gland with congenital onset.


Focal hemiclonic seizure

description: A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.


perinatal lethal hypophosphatasia

description: A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.


Malignant rhabdoid tumor of liver

description: A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.


bladder exstrophy

description: Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.


dental pulp calcification

description: Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.


Thoracoabdominal ectopia cordis

description: Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.


extrapulmonary tuberculosis

description: A tuberculosis that occurs at body sites other than the lung.


craniofacial microsomia

description: A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.


Recurrent sinusitis

description: A recurrent form of sinusitis.


Facial hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.


androgenetic alopecia

description: Absence of hair in the anterior midline and/or parietal areas.


panhypopituitarism

description: Insufficient production of all the anterior pituitary hormones.


fungal meningitis

description: Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.


Sprengel deformity

description: A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).


ependymoblastoma

description: Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.


Brachytelomesophalangy

description: Disproportionately short middle and distal phalanges compared to the hand/foot.


anaphylaxis

description: An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.


name: Premature closure of the ductus arteriosus

description: A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).


name: Anti-thyroid peroxidase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.


Liver hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.


pulmonary valve insufficiency

description: Dysfunction of the pulmonary valve characterized by incomplete valve closure.


Nezelof syndrome

description: Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


name: Anti-signal recognition particle antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.


Neonatal multifocal myoclonic seizure

description: Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites.


torsades de pointes

description: A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.


congenital afibrinogenemia

description: Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


Trichodiscoma

description: A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


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.


Ovarian serous cystadenoma

description: A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.


name: Univentricular heart with absent left sided atrioventricular connection


Reduced bone mineral density

description: A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


Double inlet right ventricle

description: The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.


proximal symphalangism

description: Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.


Spontaneous neonatal pneumothorax

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


right aortic arch

description: An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.


Anti-nucleoporin 62 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.


motor neuron disorder

description: A disease involving the motor neuron.


name: Bilateral tonic-clonic seizure with generalized onset

description: A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


name: Focal aware autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.


Humeral exostoses

description: Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Tonic status epilepticus

description: Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.


name: Monoclonal light chain cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.


Chronic hepatitis

description: Hepatitis that lasts for more than six months.


name: Status epilepticus with prominent motor symptoms

description: Status epilepticus with prominent motor signs during the prolonged seizure.


name: Recurrent viral upper respiratory tract infections

description: An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).


Focal seizure with eyelid myoclonia

description: Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.


name: Criss-cross atrioventricular valves with superior-inferior ventricles

description: Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.


name: Superior-inferior ventricles without criss-cross atrioventricular valves


Abnormality of glycoside metabolism

description: Abnormality of glycoside metabolism.


plexiform neurofibroma

description: An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)


Anti-HLA-A IgG1 antibody positivity

description: The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


peripheral nervous system disorder

description: A disease involving the peripheral nervous system.


Abnormality of the inner ear

description: An abnormality of the inner ear.


2-5 finger cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


bronchial neoplasm

description: Tumors or cancer of the bronchi.


Hyperplastic colonic polyposis

description: Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.


Absent left main coronary artery

description: The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.


aneurysmal bone cyst

description: A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.


Facial neoplasm

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


enthesitis

description: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


description: Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


porencephaly

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


Hamartomatous stomach polyps

description: Polyp-like protrusions which are histologically hamartomas located in the stomach.


Venous occlusion

description: Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.


Abnormality of acid-base homeostasis

description: An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


Anti-Tr/DNER antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


malignant hyperthermia of anesthesia

description: A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.


name: Anti-von Willebrand factor antibody positivity

description: The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).


name: Focal cognitive seizure with auditory agnosia

description: A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


Cutaneous macular amyloidosis

description: A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


agraphia

description: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.


Right ventricular hypertrophy

description: In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.


Anti-GD1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Intralobar nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


name: Febrile seizure outside the age of 3 months to 6 years

description: Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


amenorrhea

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


pericardial effusion

description: Fluid collection within the pericardial sac, usually due to inflammation.


Disseminated cutaneous warts

description: Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


alopecia totalis

description: Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


spermatogenic failure 6

description: Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.


Focal bilateral motor seizure

description: A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.


Focal aware tonic seizure

description: A type of focal tonic seizure during which awareness is fully retained throughout.


name: Apical hypertrabeculation of the left ventricle

description: An increased number and density of the trabeculae in the apex (tip) of the left ventricle.


Neoplasm of fatty tissue

description: A tumor (abnormal growth of tissue) of adipose tissue.


neurogenic arthropathy

description: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)


Adrenal gland dysgenesis

description: Abnormal development of the adrenal gland.


hemopericardium

description: An accumulation of blood within the pericardial sac.


Euthyroid goiter

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


bone giant cell tumor

description: A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.


name: Infantile sensorineural hearing impairment

description: A form of sensorineural hearing impairment with infantile onset.


B Acute Lymphoblastic Leukemia

description: A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.


name: Anti-thrombospondin type I domain-containing 7A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.


Juvenile gastrointestinal polyposis

description: The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.


Giant cell hepatitis

description: Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.


Salivary basal cell adenoma

description: A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.


Tracheobronchomalacia

description: Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


Abnormal bulbus cordis morphology

description: Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.


Placenta increta

description: Abnormal placental pentration into but not beyond the uterine wall.


name: Anti-Su antigen/argonaute 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.


binge eating disorder

description: Recurrent episodes of over-eating.


name: Anti-Kelch like protein 12 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.


schwannoma

description: A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.


Cutaneous abscess

description: A circumscribed area of pus or necrotic debris in the skin.


cleft palate

description: Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.


Single-lobed right lung

description: A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.


Abnormal blood glucose concentration

description: An abnormality of the concentration of glucose in the blood.


Coronary arteriovenous fistula

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.


chondrodysplasia punctata

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


Overriding atrioventricular valve

description: An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.


Fetal distress

description: An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.


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.


description: The presence of autoantibodies in the serum that react to RNA-polymerase III.


congenital mitral valve insufficiency

description: Dysfunction of the mitral valve characterized by incomplete valve closure.


Abnormal musculoskeletal physiology

description: An abnormality of the function of the skeletal system.


isolated cloverleaf skull syndrome

description: Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.


name: Focal motor seizure with negative myoclonus

description: A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.


posterior urethral valve

description: Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.


Renal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the kidney.


polycystic ovary syndrome

description: A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.


acroosteolysis

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


rhinitis

description: An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.


name: Anti-complement component C1q antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.


name: Focal aware motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.


name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection


name: Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.


Black pigment gallstones

description: A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.


Adrenal hyperplasia

description: Enlargement of the adrenal gland.


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.


camptodactyly of fingers

description: Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.


name: Multiple pulmonary interstitial hyalinized nodules

description: Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.


coronary aneurysm

description: Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.


Noncompaction cardiomyopathy

description: A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.


Serous pericardial effusion

description: Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.


name: Decreased attenuation pattern on pulmonary HRCT

description: Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.


name: Increased proteinogenic amino acid level in urine

description: An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Abnormal systemic arterial morphology

description: An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.


name: Abnormal ventricular myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.


decubitus ulcer

description: Death of tissue due to external pressure.


name: Fibrotic non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.


Boot-shaped cardiac silhouette

description: An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.


Congenital contracture

description: One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.


palmoplantar keratosis

description: A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.


Tachycardia

description: A rapid heartrate that exceeds the range of the normal resting heartrate for age.


Intestinal fistula

description: An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.


Apocrine hidrocystoma

description: A cystic lesions that forms a benign tumor of an apocrine sweat gland.


neutrophil actin dysfunction

description: Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


Recurrent bronchitis

description: An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.


Focal undressing automatism seizure

description: A type of focal automatism seizure characterized by involuntary undressing at onset.


heroin dependence

description: Physical and psychological dependence on the drug heroin.


name: Congenital malformation of the right heart

description: Defect or defects of the morphogenesis of the right heart identifiable at birth.


Multiple lentigines

description: Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.


Atypical behavior

description: Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.


hyperreflexia

description: An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.


Fulminant hepatitis

description: Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.


anuria

description: Absence of urine output.


name: MAM2_ARATH Methylthioalkylmalate synthase 2, chloroplastic (sprot)

description: A protein that is a translation product of the MAM2 gene in Arabidopsis thaliana.


name: O(6)-methylguanine-induced apoptosis 2 isoform h2 (human)

description: An O(6)-methylguanine-induced apoptosis 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5TH74-2.


Diamond-Blackfan anemia 12

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.


protein lap4 isoform E (fruit fly)

A protein lap4 (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7KRY7-4.


name: mu-type opioid receptor isoform m5 (mouse)

description: A mu-type opioid receptor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42866-5.


name: MUTS_ECOLI DNA mismatch repair protein MutS (sprot)

description: A DNA mismatch repair protein MutS that is encoded in the genome of Escherichia coli K-12.


name: eukaryotic initiation factor 4A-III methylated 1 (human)

description: A eukaryotic initiation factor 4A-III (human) that has been methylated on the residue at the position equivalent to Cys-284 of the amino acid sequence represented by UniProtKB:P38919. UniProtKB:P38919, Cys-284, MOD:00660.


name: LSM3B_ARATH Sm-like protein LSM3B (sprot)

description: A protein that is a translation product of the LSM3B gene in Arabidopsis thaliana.


name: guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 methylated 5 (human)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (human) that has been methylated on the residue at the position equivalent to Cys-271 of the amino acid sequence represented by UniProtKB:P62873-1. Example: UniProtKB:P62873-1, Cys-271, MOD:00660.


name: FAD-linked sulfhydryl oxidase ALR isoform h2 (human)

description: An FAD-linked sulfhydryl oxidase ALR (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55789-2.


name: NDUS8_MOUSE NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial that is encoded in the genome of mouse.


name: FH1/FH2 domain-containing protein 3 methylated 2 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-668 of the amino acid sequence represented by UniProtKB:Q2V2M9-1. Example: UniProtKB:Q2V2M9-1, Cys-668, MOD:00660.


FH1/FH2 domain-containing protein 3

A protein that is a translation product of the human FHOD3 gene or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform m3 (mouse)

description: An FH1/FH2 domain-containing protein 3 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-3.


name: FH1/FH2 domain-containing protein 3 isoform h2 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-2.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2M

description: An FH1/FH2 domain-containing protein 3 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-4 or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform h1 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-1.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2S (mouse)

description: An FH1/FH2 domain-containing protein 3 isoform FHOS2S that is encoded in the genome of mouse.


name: FH1/FH2 domain-containing protein 3 methylated 1 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-59 of the amino acid sequence represented by UniProtKB:Q2V2M9-1. Example: UniProtKB:Q2V2M9-1, Cys-59, MOD:00660.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2S

description: An FH1/FH2 domain-containing protein 3 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-2 or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2L

description: An FH1/FH2 domain-containing protein 3 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LL6-1 or a 1:1 ortholog thereof.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2L (mouse)

description: An FH1/FH2 domain-containing protein 3 isoform FHOS2L that is encoded in the genome of mouse.


name: FHOD3_MOUSE FH1/FH2 domain-containing protein 3 (sprot)

description: An FH1/FH2 domain-containing protein 3 that is encoded in the genome of mouse.


name: FHOD3_HUMAN FH1/FH2 domain-containing protein 3 (sprot)

description: An FH1/FH2 domain-containing protein 3 that is encoded in the genome of human.


name: FH1/FH2 domain-containing protein 3 isoform FHOS2M (mouse)

description: An FH1/FH2 domain-containing protein 3 isoform FHOS2M that is encoded in the genome of mouse.


name: FH1/FH2 domain-containing protein 3 isoform h3 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-3.


name: FH1/FH2 domain-containing protein 3 isoform h4 (human)

description: An FH1/FH2 domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2V2M9-4.


name: transcription factor MYB120 isoform 2 (Arabidopsis thaliana)

description: A transcription factor MYB120 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q94FL7-2.


name: FBL34_ARATH F-box/LRR-repeat protein At1g67190 (sprot)

description: A protein that is a translation product of the At1g67190 gene in Arabidopsis thaliana.


name: PILR1_ARATH Pinoresinol reductase 1 (sprot)

description: A protein that is a translation product of the PRR1 gene in Arabidopsis thaliana.


name: KTBL1_HUMAN KATNB1-like protein 1 (sprot)

description: A KATNB1-like protein 1 that is encoded in the genome of human.


name: Stage IIIA Gestational Trophoblastic Tumor AJCC v7

description: Stage IIIA includes: Any T, M1a, Risk factors: low risk.  M1a: Lung metastasis.  (AJCC 7th ed.)


name: nucleolar protein dao-5 isoform a (worm)

description: A nucleolar protein dao-5 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9XVS4-1.


A polyunsaturated fatty acid that is hexadecanoic acid with unsaturation at positions 4, 7, 10 and 13. It is found in Daphnia galeata.


name: ARHGQ_HUMAN Rho guanine nucleotide exchange factor 26 (sprot)

description: A Rho guanine nucleotide exchange factor 26 that is encoded in the genome of human.


name: Rho guanine nucleotide exchange factor 26 isoform h3 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-4.


name: Rho guanine nucleotide exchange factor 26 isoform h1 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-1.


name: Rho guanine nucleotide exchange factor 26 isoform h2 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-3.


name: protein ERGIC-53-like isoform h3 (human)

description: A protein ERGIC-53-like (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HAT1-3.


category: biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Catalysis of the transfer of an N-acetylgalactosaminyl residue from UDP-N-acetyl-galactosamine to an acceptor molecule, forming an alpha-1,4 linkage.


name: sn1-specific diacylglycerol lipase alpha isoform 1 (rat)

description: A diacylglycerol lipase-alpha isoform 1 that is encoded in the genome of rat.


diacylglycerol lipase-alpha

A protein that is a translation product of the human DAGLA gene or a 1:1 ortholog thereof.


name: DGLA_RAT Diacylglycerol lipase-alpha (sprot)

description: A diacylglycerol lipase-alpha that is encoded in the genome of rat.


name: DGLA_HUMAN Diacylglycerol lipase-alpha (sprot)

description: A diacylglycerol lipase-alpha that is encoded in the genome of human.


name: DGLA_MOUSE Diacylglycerol lipase-alpha (sprot)

description: A diacylglycerol lipase-alpha that is encoded in the genome of mouse.


name: diacylglycerol lipase-alpha isoform 1 (mouse)

description: A diacylglycerol lipase-alpha isoform 1 that is encoded in the genome of mouse.


diacylglycerol lipase-alpha isoform 1

A diacylglycerol lipase-alpha that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6WQJ1-1 or a 1:1 ortholog thereof.


name: CCA tRNA nucleotidyltransferase 1, mitochondrial isoform m2 (mouse)

description: A CCA tRNA nucleotidyltransferase 1, mitochondrial (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K1J6-2.


name: TRNT1_MOUSE CCA tRNA nucleotidyltransferase 1, mitochondrial (sprot)

description: A CCA tRNA nucleotidyltransferase 1, mitochondrial that is encoded in the genome of mouse.


name: CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 (mouse)

description: A CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 that is encoded in the genome of mouse.


name: DLEC1_RAT Deleted in lung and esophageal cancer protein 1 homolog (sprot)

description: A deleted in lung and esophageal cancer protein 1 that is encoded in the genome of rat.


zaragozic acid C

A polyketide isolated from fungi that is a potent inhibitor of fungal and mammalian squalene synthase.


name: immunoglobulin heavy constant alpha 1 N-glycosylated 6 (human)

description: An immunoglobulin heavy constant alpha 1 (human) that has been N-glycosylated at the residue equivalent to Asn-144 of the amino acid sequence represented by UniProtKB:P01876-2, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P01876-2, Asn-144, MOD:00160~GNO:G22140GZ.


TETRANGOMYCIN

An angucycline antibiotic that is 3,4-dihydrotetraphene-1,7,12(2H)-trione substituted by hydroxy groups at positions 3 and 8 and a methyl group at position 3 (the 3R stereoisomer) ring system. It is an antibiotic isolated from Streptomyces sp.


name: dolichol-phosphate mannosyltransferase subunit 3 cysteinylated 1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-67 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Cys-67, MOD:00765.


name: dolichol-phosphate mannosyltransferase subunit 3

description: A protein that is a translation product of the human DPM3 gene or a 1:1 ortholog thereof.


name: dolichol-phosphate mannosyltransferase subunit 3 isoform h2 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P2X0-2.


name: dolichol-phosphate mannosyltransferase subunit 3 isoform h1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P2X0-1.


name: DPM3_MOUSE Dolichol-phosphate mannosyltransferase subunit 3 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 3 that is encoded in the genome of mouse.


name: dolichol-phosphate mannosyltransferase subunit 3 methylated 1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has been methylated on the residue at the position equivalent to Cys-67 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Cys-67, MOD:00660.


name: DPM3_CAEEL Probable dolichol-phosphate mannosyltransferase subunit 3 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 3 that is encoded in the genome of worm.


name: dolichol-phosphate mannosyltransferase subunit 3 sequence variant L85S (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has a Ser residue at the position equivalent to Leu-85 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Leu-85, CHEBI:29999.


name: DNAA_STAA8 Chromosomal replication initiator protein DnaA (sprot)

description: A chromosomal replication initiator protein DnaA that is encoded in the genome of Staphylococcus aureus subsp. aureus NCTC 8325.


name: BAG5_RAT BAG family molecular chaperone regulator 5 (sprot)

description: A BAG family molecular chaperone regulator 5 that is encoded in the genome of rat.


name: BAG family molecular chaperone regulator 5 isoform 1 (rat)

description: A BAG family molecular chaperone regulator 5 isoform 1 that is encoded in the genome of rat.


uromodulin N-glycosylated 245 (human)

A uromodulin (human) that has been N-glycosylated at the residue equivalent to Asn-396 of the amino acid sequence represented by UniProtKB:P07911-1, in which the glycan structure is represented by GlyTouCan:G92974UU. Example: UniProtKB:P07911-1, Asn-396, MOD:00160~GNO:G92974UU.


A very long-chain omega-3 fatty acid that is hexacosanoic acid having five double bonds located at positions 11, 14, 17, 20, 23 (the 11Z,14Z,17Z,20Z,23Z-isomer).


Transient neonatal pustulosis

description: A benign, self-limited eruption of vesicles, pustules and macules seen in newborns. The fluid-filled lesions typically rupture and resolve within 48 hours while the macular lesions may persist for months.


name: ISDB_STAAR Iron-regulated surface determinant protein B (sprot)

description: An iron-regulated surface determinant protein B that is encoded in the genome of Staphylococcus aureus subsp. aureus MRSA252.


name: trafficking protein particle complex subunit 13 isoform h1 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-1.


name: TPC13_HUMAN Trafficking protein particle complex subunit 13 (sprot)

description: A trafficking protein particle complex subunit 13 that is encoded in the genome of human.


name: trafficking protein particle complex subunit 13 isoform h3 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-4.


name: trafficking protein particle complex subunit 13 isoform h5 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-7.


name: trafficking protein particle complex subunit 13 isoform h2 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-2.


name: trafficking protein particle complex subunit 13 isoform h4 (human)

description: A trafficking protein particle complex subunit 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A5PLN9-5.


name: O-phosphoseryl-tRNA(Sec) selenium transferase isoform h2 (human)

description: An O-phosphoseryl-tRNA(Sec) selenium transferase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HD40-2.


carboxylesterase 5A isoform h4 (human)

A carboxylesterase 5A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6NT32-4.


name: ataxin-2-like protein phosphorylated 2 (human)

description: An ataxin-2-like protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-306 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Ser-306, MOD:00046.


ataxin-2-like protein

A protein that is a translation product of the human ATXN2L gene or a 1:1 ortholog thereof.


name: ataxin-2-like protein phosphorylated 3 (human)

description: An ataxin-2-like protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-305 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Ser-305, MOD:00046.


name: ataxin-2-like protein isoform h6 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-6.


name: ataxin-2-like protein isoform m3 (mouse)

description: An ataxin-2-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7TQH0-3.


name: ataxin-2-like protein isoform h8 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-8.


name: ataxin-2-like protein isoform m2 (mouse)

description: An ataxin-2-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7TQH0-2.


name: ataxin-2-like protein deaminated 1 (human)

description: An ataxin-2-like protein (human) that has been deaminated on the residue at the position equivalent to Gln-716 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Gln-716, MOD:00685.


name: ataxin-2-like protein isoform m1 (mouse)

description: An ataxin-2-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7TQH0-1.


name: ataxin-2-like protein isoform h2 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-2.


name: ataxin-2-like protein isoform h5 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-5.


name: ataxin-2-like protein isoform h3 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-3.


name: ataxin-2-like protein phosphorylated 4 (human)

description: An ataxin-2-like protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-496 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Ser-496, MOD:00046.


name: ataxin-2-like protein methylated 2 (human)

description: An ataxin-2-like protein (human) that has been methylated on the residue at the position equivalent to Cys-135 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Cys-135, MOD:00660.


name: ataxin-2-like protein methylated 1 (human)

description: An ataxin-2-like protein (human) that has been methylated on the residue at the position equivalent to Cys-58 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Cys-58, MOD:00660.


name: ataxin-2-like protein deaminated 2 (human)

description: An ataxin-2-like protein (human) that has been deaminated on the residue at the position equivalent to Gln-308 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Gln-308, MOD:00685.


name: ataxin-2-like protein methylated 3 (human)

description: An ataxin-2-like protein (human) that has been methylated on the residue at the position equivalent to Arg-417 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Arg-417, MOD:00658.


name: ataxin-2-like protein isoform h9 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-9.


name: ataxin-2-like protein isoform h1 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-1.


name: ATX2L_HUMAN Ataxin-2-like protein (sprot)

description: An ataxin-2-like protein that is encoded in the genome of human.


ataxin-2 homolog isoform c (worm)

An ataxin-2 homolog (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:G5ED29-3.


ataxin-2 homolog isoform b (worm)

An ataxin-2 homolog (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:G5ED29-2.


name: ataxin-2-like protein isoform h7 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-7.


ATX2_CAEEL Ataxin-2 homolog (sprot)

An ataxin-2-like protein that is encoded in the genome of worm.


name: ataxin-2-like protein deaminated 3 (human)

description: An ataxin-2-like protein (human) that has been deaminated on the residue at the position equivalent to Asn-263 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Asn-263, MOD:00684.


name: ataxin-2-like protein isoform h4 (human)

description: An ataxin-2-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWM7-4.


name: ATX2L_MOUSE Ataxin-2-like protein (sprot)

description: An ataxin-2-like protein that is encoded in the genome of mouse.


ataxin-2 homolog isoform a (worm)

An ataxin-2 homolog (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:G5ED29-1.


A nitramine that is N,N-bis(2-hydroxypropyl)nitrosamine in which the nitroso group has undergone formal oxidation to the corresponding nitro group. A potent pancreatic carcinogen.


thyroid hormone metabolism, abnormal 1

description: A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.


permanent congenital hypothyroidism

description: Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.


peripheral hypothyroidism

description: Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.


name: hypothyroidism due to deficient transcription factors involved in pituitary development or function

description: Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.


congenital nongoitrous hypothyroidism 6

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.


name: peripheral resistance to thyroid hormones

description: Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


name: hypothyroidism, congenital, nongoitrous, 7


congenital nongoitrous hypothyroidism 3

description: A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.


name: X-linked central congenital hypothyroidism with late-onset testicular enlargement

description: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.


name: sperm flagellar protein 2 isoform 3 (rat)

description: A sperm flagellar protein 2 isoform 3 that is encoded in the genome of rat.


sperm flagellar protein 2

A protein that is a translation product of the human SPEF2 gene or a 1:1 ortholog thereof.


name: sperm flagellar protein 2 isoform m4 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-4.


name: sperm flagellar protein 2 isoform r1 (rat)

description: A sperm flagellar protein 2 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9R095-1.


name: SPEF2_RAT Sperm flagellar protein 2 (sprot)

description: A sperm flagellar protein 2 that is encoded in the genome of rat.


sperm flagellar protein 2 isoform 3

A sperm flagellar protein 2 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-3 or a 1:1 ortholog thereof.


name: SPEF2_MOUSE Sperm flagellar protein 2 (sprot)

description: A sperm flagellar protein 2 that is encoded in the genome of mouse.


name: sperm flagellar protein 2 isoform r2 (rat)

description: A sperm flagellar protein 2 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9R095-2.


name: sperm flagellar protein 2 isoform h2 (human)

description: A sperm flagellar protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-2.


name: sperm flagellar protein 2 isoform h1 (human)

description: A sperm flagellar protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-1.


name: sperm flagellar protein 2 isoform 3 (human)

description: A sperm flagellar protein 2 isoform 3 that is encoded in the genome of human.


name: sperm flagellar protein 2 isoform h4 (human)

description: A sperm flagellar protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9C093-4.


name: sperm flagellar protein 2 isoform m3 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-3.


name: sperm flagellar protein 2 isoform m2 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-2.


name: SPEF2_HUMAN Sperm flagellar protein 2 (sprot)

description: A sperm flagellar protein 2 that is encoded in the genome of human.


name: sperm flagellar protein 2 isoform m1 (mouse)

description: A sperm flagellar protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C9J3-1.


ketotriose derivative

A triose derivative that is formally obtained from ketotriose.


1-tetradecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as tetradecyl


1-dodecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as dodecyl


A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as (9Z,12Z,15Z)-octadecatrienyl.


1-arachidonoylglycerone 3-phosphate

A 1-acylglycerone 3-phosphate in which the acyl group is specified as arachidonoyl.


1-palmitylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as palmityl (hexadecyl).


1-pentadecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as pentadecyl


An O-alkylglycerone that is the mono-ethyl ether of 1,3-dihydroxyacetone.


1-octadecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as octadecyl.


1-oleylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as oleyl


1-oleoylglycerone 3-phosphate

A 1-acylglycerone 3-phosphate in which the acyl group is specified as oleoyl.


1-alkylglycerone 3-phosphate

A glycerone 3-phosphate having an unspecified O-alkyl substituent at the 1-position.


1-linoleoylglycerone 3-phosphate

A 1-acylglycerone 3-phosphate in which the acyl group is specified as linoleoyl.


A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as (9Z,12Z)-octadecadienyl.


An O-alkylglycerone that consists of glycerone bearing a single O-methyl substituent.


1-heptadecylglycerone 3-phosphate

A 1-alkylglycerone 3-phosphate in which the alkyl group is specified as heptadecyl.


name: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 deaminated 1 (human)

description: An N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 (human) that has been deaminated on the residue at the position equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:Q9NY97-1. Example: UniProtKB:Q9NY97-1, Asn-219, MOD:00684.


name: sialic acid-binding Ig-like lectin 11 isoform h2 (human)

description: A sialic acid-binding Ig-like lectin 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96RL6-2.


name: desumoylating isopeptidase 1 cysteinylated 1 (human)

description: A desumoylating isopeptidase 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-108 of the amino acid sequence represented by UniProtKB:Q6ICB0. UniProtKB:Q6ICB0, Cys-108, MOD:00765.


name: DESI1_HUMAN Desumoylating isopeptidase 1 (sprot)

description: A desumoylating isopeptidase 1 that is encoded in the genome of human.


name: desumoylating isopeptidase 1 deaminated 1 (human)

description: A desumoylating isopeptidase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-5 of the amino acid sequence represented by UniProtKB:Q6ICB0. UniProtKB:Q6ICB0, Asn-5, MOD:00684.


name: desumoylating isopeptidase 1 isoform 1 (human)

description: A desumoylating isopeptidase 1 isoform 1 that is encoded in the genome of human.


(R)-3-methyl-2-oxovaleric acid

The (R)-enantiomer of 3-methyl-2-oxovaleric acid.


name: 45 kDa calcium-binding protein isoform 1 (rat)

description: A 45 kDa calcium-binding protein isoform 1 that is encoded in the genome of rat.


A triacylglycerol 42:2 in which the acyl groups at positions 1, 2 and 3 are specified as octanoyl, hexadecenoyl and octadecenoyl respectively.


triacylglycerol 42:2

A triglyceride in which the three acyl groups contain a total of 42 carbons and 2 double bonds.


name: Aly/REF export factor 2 isoform m2 (mouse)

description: An Aly/REF export factor 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9JJW6-2.


ARTOCARPIN

A trihydroxyflavone that is flavone substituted by hydroxy groups at positions 5, 2', and 4', a methoxy group at position 7, a prenyl group at position 3 and a (1E)-3-methylbut-1-enyl group at position 6. Isolated from Artocarpus heterophyllus and Artocarpus integrifolia, it exhibits antineoplastic activity.


name: SYC_SCHPO Probable cysteine--tRNA ligase (sprot)

description: A cysteine--tRNA ligase, cytoplasmic that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: negative regulation of toll-like receptor 2 signaling pathway

category: biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 2 signaling pathway.


name: regulation of toll-like receptor 2 signaling pathway

description: Any process that modulates the frequency, rate, or extent of toll-like receptor 2 signaling pathway.


name: positive regulation of toll-like receptor 2 signaling pathway

description: Any process that activates or increases the frequency, rate, or extent of toll-like receptor 2 signaling pathway.


name: argininosuccinate lyase, initiator methionine removed form (human)

description: An argininosuccinate lyase (human) that has had the initiator methionine removed. UniProtKB:P30566, 2-484.


name: BTB/POZ domain-containing protein KCTD14

description: A protein that is a translation product of the human KCTD14 gene or a 1:1 ortholog thereof.


name: KCD14_HUMAN BTB/POZ domain-containing protein KCTD14 (sprot)

description: A BTB/POZ domain-containing protein KCTD14 that is encoded in the genome of human.


aquaporin-5 isoform 1 (rat)

An aquaporin-5 isoform 1 that is encoded in the genome of rat.


AQP5_RAT Aquaporin-5 (sprot)

An aquaporin-5 that is encoded in the genome of rat.


Factor XIII Inactivation

description: Presence of inactivating antibodies to factor XIII in the blood.


acquired factor XIII deficiency

description: An acquired coagulation disorder due to reduced levels and activity of factor XIII.


name: NLP30_CAEEL Neuropeptide-like protein 30 (sprot)

description: A protein that is a translation product of the nlp-30 gene in worm.


name: SPARC-like protein 1 O-glycosylated 8 (human)

description: A SPARC-like protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:Q14515-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q14515-1, Thr-31, MOD:00005~GNO:G53434XO.


name: BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 cysteinylated 2 (human)

description: A BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-210 of the amino acid sequence represented by UniProtKB:Q13829-1. Example: UniProtKB:Q13829-1, Cys-210, MOD:00765.


protein BEX4 isoform 1 (rat)

A protein BEX4 isoform 1 that is encoded in the genome of rat.


protein BEX4

A protein that is a translation product of the human BEX4 gene or a 1:1 ortholog thereof.


BEX4_HUMAN Protein BEX4 (sprot)

A protein BEX4 that is encoded in the genome of human.


protein BEX4 cysteinylated 1 (human)

A protein BEX4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-117 of the amino acid sequence represented by UniProtKB:Q9NWD9. UniProtKB:Q9NWD9, Cys-117, MOD:00765.


protein BEX4 isoform 1 (mouse)

A protein BEX4 isoform 1 that is encoded in the genome of mouse.


BEX4_MOUSE Protein BEX4 (sprot)

A protein BEX4 that is encoded in the genome of mouse.


BEX4_RAT Protein BEX4 (sprot)

A protein BEX4 that is encoded in the genome of rat.


protein BEX4 isoform 1

A protein BEX4 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9CWT2-1 or a 1:1 ortholog thereof.


name: SPAT2_MOUSE Spermatogenesis-associated protein 2 (sprot)

description: A spermatogenesis-associated protein 2 that is encoded in the genome of mouse.


name: spermatogenesis-associated protein 2 isoform m1 (mouse)

description: A spermatogenesis-associated protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K004-1.


name: spermatogenesis-associated protein 2 isoform m2 (mouse)

description: A spermatogenesis-associated protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K004-2.


name: WDR83_RAT WD repeat domain-containing protein 83 (sprot)

description: A mitogen-activated protein kinase organizer 1 that is encoded in the genome of rat.


name: VPS27_CANAL Vacuolar protein sorting-associated protein 27 (sprot)

description: A protein that is a translation product of the VPS27 gene in Candida albicans SC5314.


A phenylalkylamine that is benzene in which one of the hydrogens is substituted by a 3-aminopropyl group.