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.


Mild intrauterine growth retardation

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

description: Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.


Increased sarcoplasmic glycogen

description: Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.


Difficulty walking backward

description: Reduced ability to walk (ambulate) in a backwards direction.


name: Bullet-shaped middle phalanx of the 3rd finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.


Grandiose delusion

description: False beliefs relating to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies).


name: Reduced circulating leukotriene C4 concentration

description: An abnormally decreased concentration of leukotriene C4 in the blood circulation.


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.


Hydropic placenta

description: An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.


Postductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.


name: Elevated circulating butyrylcarnitine concentration

description: Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.


name: Decreased muscle succinate dehydrogenase staining


Abnormal cardiac MRI

description: Abnormal results of a MRI for the heart.


Perioral eczema

description: A type of eczema that occurs in the lips and perioral area.


Premature chromatid separation

description: The presence of premature sister chromatid segregation.


Positive Romberg sign

description: The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.


Abnormal bulbus cordis morphology

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


Infection-associated lymphopenia

description: Decreased lymphocyte count during infections.


Corner fracture of metaphysis

description: Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.


name: Elevated CSF glial fibrillary acidic protein concentration

description: Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.


Striae distensae

description: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.


Sclerosis of 5th finger phalanx

description: An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Placenta increta

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


Blistering by anatomical location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.


Femoroacetabular impingement

description: Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.


name: Abnormality of the epiphysis of the femoral head

description: Any abnormality of the proximal epiphysis of the femur.


name: Ivory epiphysis of the proximal phalanx of the 2nd finger


Hypolysinemia

description: A decreased amount of lysine in the blood.


Giant melanosomes in melanocytes

description: The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.


Unusual parasitic infection

description: An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.


name: Increased neuronal autofluorescent lipopigment

description: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


name: Hypointensity of cerebral white matter on MRI

description: A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Focal lissencephaly

description: A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.


name: Increased anterioposterior diameter of thorax


Abnormal cerebellar peduncle morphology

description: An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.


Incomplete unilateral cleft lip

description: Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.


Hostility

description: Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults.


name: Modic type III vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.


Persistent patent ductus venosus

description: Persistence of blood flow through the ductus venosus for longer than the normal time after birth.


Shawl scrotum

description: Superior margin of the scrotum superior to the base of the penis.


name: Elevated circulating 3-methylhistidine concentration

description: Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.


Elevated urinary sulfatide level

description: The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.


Ivory epiphyses of the 5th finger

description: Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


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.


name: Bullet-shaped middle phalanx of the 2nd finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.


Positive perchlorate discharge test

description: An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.


name: Abnormal platelet dense granule secretion

description: Abnormal release of dense granules from platelets.


Spinal meningeal diverticulum

description: An outpouching of the spinal meninges.


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.


Pancreatic atrophy

description: Wasting (shrinking) of the pancreas.


Abnormality of the foot musculature

description: An anomaly of the musculature of foot.


Abnormality of the female genitalia

description: Abnormality of the female genital system.


Hypoglutamatemia

description: A decreased amount of glutamate in the blood.


Cutaneous abscess

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


Curved 5th toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the fifth toe.


name: Abnormal circulating free T4 concentration

description: A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.


Mesangial cell loss

description: Loss of mesangial cells segmentally or globally.


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.


name: Patchy reduction of bone mineral density

description: Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Perineal hypospadias

description: Hypospadias with location of the urethral meatus in the perineal region.


Abnormal blood glucose concentration

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


Red urine

description: An abnormal red color of the urine.


Abnormal CSF dopamine concentration

description: Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).


External genital hypoplasia

description: Underdevelopment of part or all of the external reproductive organs.


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.


Small distal femoral epiphysis

description: Reduced size of the Distal epiphysis of femur.


Increased hemoglobin oxygen affinity

description: An abnormal increase in the binding affinity of hemoglobin for oxygen.


Glomerular lipoprotein thrombus

description: Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.


Decreased urinary bile acid level

description: The amount of bile acids in the urine, normalized for urine concentration, is below the lower limit of normal.


Thin fingernail

description: Fingernail that appears thin when viewed on end.


Decreased urinary 1-methylhistidine

description: Decreased concentration of 1-methylhistidine in the urine.


name: Abnormal glomerular basement membrane texture

description: Anomalous appearance or structure of the surface of the glomerular basement membrane.


Overriding atrioventricular valve

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


Soft, doughy skin

description: A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.


Narrow internal auditory canal

description: Reduction in diameter of the internal auditory canal.


Open operculum

description: Underdevelopment of the operculum.


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


name: Increased proportion of CD4-positive T cells

description: An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.


Premature birth

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


name: Increased circulating interleukin 13 concentration

description: An increased concentration of interleukin-13 in the blood circulation.


name: Abnormality of the epiphyses of the 4th finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.


Underdeveloped nasolabial fold

description: Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).


name: Contracture of the proximal interphalangeal joint of the 4th finger

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


description: A type of ichthyosiform erythroderma with postnatal onset.


name: Increased circulating octadecanoate level

description: An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).


Ureteral agenesis

description: Failure of the ureter to undergo development.


Abnormal musculoskeletal physiology

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


isolated cloverleaf skull syndrome

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

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.


Mild global developmental delay

description: A mild delay in the achievement of motor or mental milestones in the domains of development of a child.


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.


Late-onset proximal muscle weakness

description: Lack of strength of the proximal musculature occurring late in the clinical course.


Multiple prenatal fractures

description: The presence of bone fractures in the prenatal period that are diagnosed at birth or before.


name: Cytochrome C oxidase-negative muscle fibers

description: An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.


name: Abnormal circulating isoleucine concentration

description: Any deviation from the normal concentration of isoleucine in the blood circulation.


Focal pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.


name: Decreased circulating methylcobalamin concentration

description: The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.


Abnormal total iron binding capacity

description: Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.


name: Recurrent loss of toenails and fingernails

description: Repeated loss, or shedding, of the nails of the fingers and toes.


Renal neurofibroma

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


Z-band streaming

description: Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.


Anti Parvovirus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of parvovirus.


C1-C2 vertebral abnormality

description: Any abnormality of the atlas and the axis.


name: Absent epiphyses of the proximal phalanges of the hand


Abnormal rectum morphology

description: An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.


Irregularly spaced teeth

description: Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.


Bipartite patella

description: A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.


Reduced fibroblast surface marker level

description: Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.


name: Small epiphysis of the distal phalanx of the 2nd finger

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.


name: Partial duplication of the proximal phalanx of the 4th toe


Elevated urinary catecholamine level

description: The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.


Rectal duplication

description: A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.


name: Interlobular vein intima/media amyloidosis

description: Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


Abnormal pharynx physiology

description: A functional anomaly of the pharynx.


name: Anti-complement component C1q antibody positivity

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


name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger

description: Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.


name: Amplification of interpersonal communication

description: An increase in the tendency of a person to share information or emotions compared to that person's previous norms.


name: Focal aware motor seizure with negative myoclonus

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


Abnormal circulating iron concentration

description: The concentration of iron in the blood circulation is outside the limits of normal.


Abnormal hepatic echogenicity

description: Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).


Curved phalanges of the 5th finger

description: Curved phalanges of the 5th (little) finger.


Functional abnormality of the bladder

description: Dysfunction of the urinary bladder.


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


EMG: myotonic runs

description: Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).


Caudal interpedicular narrowing

description: Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.


Limited wrist movement

description: An abnormal limitation of the mobility of the wrist.


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.


Abnormal hepatocyte morphology

description: A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.


Pulmonary pseudocavity

description: A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.


Colonic varices

description: The presence of varices (enlarged and convoluted blood vessels) in the colon.


name: Positive CSF Borrelia burgdorferi nucleic acid test

description: Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


Hypoplastic pubic ramus

description: Underdevelopment of a ramus (branch) of the pubic bone.


Indeterminate ventricular axis

description: A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.


name: Abnormality of the epiphysis of the proximal phalanx of the 5th toe


name: Decreased circulating beta-mannosidase activity

description: Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.


Black pigment gallstones

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


Short distal phalanx of finger

description: Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.


Bowing of the arm

description: A bending or abnormal curvature affecting a long bone of the arm.


Abnormality of complement system

description: An abnormality of the complement system.


Drug-induced anaphylaxis

description: A form of anaphylaxis that is triggered by intake of drugs or medications.


name: Absent epiphysis of the middle phalanx of the 2nd toe


Proximal upper limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the arms.


Perihilar segmental glomerulosclerosis

description: Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.


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.


Hypocapnia in cord blood

description: Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.


Streaky metaphyseal sclerosis

description: The presence of streaks (bands) of abnormally increased density of metaphyseal bone.


Abnormal B cell morphology

description: A structural abnormality of B cells.


name: Sclerosis of the distal phalanx of the 5th finger


Defective interstrand cross-link repair

description: A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.


name: Fractured epiphysis of fourth metacarpal bone

description: A partial or complete breakage of the epiphysis of fourth metacarpal bone.


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.


Seminal vesicle hypoplasia

description: A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.


name: Multiple pulmonary interstitial hyalinized nodules

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


Glomerular karyhorrhectic debris

description: Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.


Abnormal shoulder physiology

description: Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.


name: Reduced circulating alpha-1,3-fucosyltransferase activity

description: Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation.


name: Abnormality of the costochondral junction

description: Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.


Tubularization of Bowman capsule

description: The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.


Serous pericardial effusion

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


Abnormal palmar dermatoglyphics

description: An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.


name: Prolonged bleeding following circumcision

description: Bleeding that persists for a longer than usual time following circumcision.


Bracket epiphyses of the 2nd finger

description: An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Decreased urine guanidinoacetic acid level

description: The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is below the lower limit of normal.


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.


Erythematous papule

description: A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.


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.


Abnormal parotid gland morphology

description: Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.


Fractured middle phalanx of manus

description: A partial or complete breakage of the middle phalanx of manus.


name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger


Thumb contracture

description: Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.


decubitus ulcer

description: Death of tissue due to external pressure.


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.


name: Elevated circulating L-alloisoleucine concentration

description: Abnormally increased concentration of L-alloisoleucine in the blood circulation.


Pseudoepiphysis of the thumb

description: A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.


name: Osteolytic defects of the proximal phalanx of the 5th finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.


Abnormality of the tarsal bones

description: An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.


Small superior frontal cortex

description: Reduced size of the superior frontal portion of the cerebral cortex.


Deep neck abscess

description: An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces.


Abnormal diaphysis morphology

description: An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.


Torn meniscus

description: A tear in the cartilaginous pad (meniscus) of the knee.


Podocyte microvillous transformation

description: Cytoplasmic projections into the urinary space from the luminal side of the podocyte.


Reduced CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.


Apocrine hidrocystoma

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


name: Anomalous hepatic venous drainage into the left atrium

description: An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.


name: Elevated urinary ureidoisobutyric acid level

description: The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.


Storage in hepatocytes

description: Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.


name: Aplasia of the musculature of the pelvis

description: Absence of the musculature of the pelvis.


Reduced hepatic urocanase activity

description: Activity of urocanase in the liver below the lower limit of normal.


Sternal pit

description: A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.


Infra-aortic superior vena cava

description: The superior vena cava passes below the aortic arch.


name: Short proximal phalanx of the 3rd finger

description: Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.


name: Oligoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


name: Absent epiphysis of the distal phalanx of the 2nd toe


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


Low plasma citrulline

description: A decreased concentration of citrulline in the blood.


name: Enlarged epiphyses of the proximal phalanges of the hand


Recurrent bronchitis

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


Mesomelic arm shortening

description: Shortening of the middle parts of the arm in relation to the upper and terminal segments.


name: Elevated circulating insulin:C-peptide ratio

description: Increased ratio of insulin to C-peptide in the blood circulation.


Impaired folate absorption

description: Reduced ability to absorb folate in the diet. This finding can be measured by a folic acid loading test in which blood concentration of folate is measured after oral administration of folic acid.


name: Complete duplication of the distal phalanx of the 4th finger

description: Complete duplication of the distal phalanx of ring finger.


Focal undressing automatism seizure

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


Abnormal CSF methionine concentration

description: Any deviation from the normal concentration of methionine in the cerebrospinal fluid.


name: Congenital malformation of the right heart

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


Hyperplasia of midface

description: Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face


Generalized microdontia

description: A generalized form of microdontia.


Interrupted aortic arch type B

description: Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.


Agenesis of maxillary premolar

description: Agenesis of maxillary premolar.


Multiple lentigines

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


Forearm

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


Secondary Caesarian section

description: Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.


name: Positive bloodstream pathogen-specific antibody positivity

description: Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies).


name: Fragmentation of the epiphyses of the phalanges of the hand

description: Fragmented appearance of the epiphyses of the phalanges of the fingers.


Oral synechia

description: Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.


Crescent-shaped iliac bone

description: Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.


Decreased hip abduction

description: Reduced ability to move the femur outward to the side.


name: Supraventricular tachycardia with an accessory connection mediated pathway

description: Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.


name: Abnormality of the proximal phalanx of the thumb

description: An anomaly of the shape or form of the proximal phalanx of the thumb.


name: Enlarged epiphysis of the proximal phalanx of the 3rd finger

description: Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.


Depressed glabella

description: Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.


Absent middle phalanx of 4th finger

description: Absence of the middle phalanx of the ring (4th) finger.


Flatulence

description: Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.


Brown tumor

description: A brown tumor is a bone lesion that results from bony resorption by excess osteoclastic activity, and replacement by fibrous tissue and giant cells. Brown tumor is an uncommon pathognomonic sign of hyperparathyroidism.


Feculent vomiting

description: Vomiting of material that is of fecal origin.


Diamond-Blackfan anemia 12

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


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: 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: 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 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 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 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 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: Stage IIIA Gestational Trophoblastic Tumor AJCC v7

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


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


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.


diacylglycerol lipase-alpha

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


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.


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: 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: 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.


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).


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 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 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 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: 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.


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.


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.


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.


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 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.


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.


1-acylglycerone 3-phosphate

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


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: 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.


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: 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.


Factor XIII Inactivation

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


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

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


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.


name: cystathionine gamma-lyase cysteinylated 1 (human)

description: A cystathionine gamma-lyase (human) that has been cysteinylated on the residue at the position equivalent to Cys-109 of the amino acid sequence represented by UniProtKB:P32929-1. Example: UniProtKB:P32929-1, Cys-109, MOD:00765.


adenosine 5'-phosphoramidate

The phosphoramadite analogue of AMP.


spinal intradural arachnoid cysts

description: Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.


intracranial arachoid cyst

description: A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.


name: AFG3-like protein 2 deaminated 1 (human)

description: An AFG3-like protein 2 (human) that has been deaminated on the residue at the position equivalent to Asn-706 of the amino acid sequence represented by UniProtKB:Q9Y4W6. UniProtKB:Q9Y4W6, Asn-706, MOD:00684.


name: AFG3-like protein 2 acetylated 1 (human)

description: An AFG3-like protein 2 (human) that has been acetylated on the residue at the position equivalent to Lys-710 of the amino acid sequence represented by UniProtKB:Q9Y4W6. UniProtKB:Q9Y4W6, Lys-710, MOD:00723.


protein mab-21-like 2 isoform 1 (human)

A protein mab-21-like 2 isoform 1 that is encoded in the genome of human.


name: Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma

description: A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma.


name: mitochondrial amidoxime-reducing component 1, initiator methionine removed form (human)

description: A mitochondrial amidoxime-reducing component 1 (human) that has had the initiator methionine removed. Example: UniProtKB:Q5VT66-1, 2-337.


name: cAMP-regulated phosphoprotein 21 isoform h5 (human)

description: A cAMP-regulated phosphoprotein 21 (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:Q9UBL0-5.


name: spermatogenesis-associated protein 22 isoform h2 (human)

description: A spermatogenesis-associated protein 22 (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:Q8NHS9-2.


name: spermatogenesis-associated protein 22 isoform h1 (human)

description: A spermatogenesis-associated protein 22 (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:Q8NHS9-1.


name: spermatogenesis-associated protein 22 isoform h3 (human)

description: A spermatogenesis-associated protein 22 (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:Q8NHS9-3.


name: leucine-rich repeat-containing protein 55 isoform 1 (human)

description: A leucine-rich repeat-containing protein 55 isoform 1 that is encoded in the genome of human.


A 17alpha-hydroxy-C21-steroid that is cortisol in which the 4-5 double bond has undergone formal hydrogenation to give the corresponding 5beta- steroid.


sorting nexin-2 isoform 1 (human)

A sorting nexin-2 isoform 1 that is encoded in the genome of human.


metabotropic glutamate receptor 4

A metabotropic glutamate receptor protein that is a translation product of the human GRM4 gene or a 1:1 ortholog thereof.


name: metabotropic glutamate receptor 4 isoform h4 (human)

description: A metabotropic glutamate receptor 4 (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:Q14833-4.


name: metabotropic glutamate receptor 4 isoform h1 (human)

description: A metabotropic glutamate receptor 4 (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:Q14833-1.


name: metabotropic glutamate receptor 4 isoform h2 (human)

description: A metabotropic glutamate receptor 4 (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:Q14833-2.


name: metabotropic glutamate receptor 4 isoform h3 (human)

description: A metabotropic glutamate receptor 4 (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:Q14833-3.


name: metabotropic glutamate receptor 4, signal peptide removed form (human)

description: A metabotropic glutamate receptor 4 (human) that has had the signal peptide removed. UniProtKB:Q14833, 33-912.


name: metabotropic glutamate receptor 4 isoform h5 (human)

description: A metabotropic glutamate receptor 4 (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:Q14833-5.


retinitis pigmentosa 50

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.


distal trisomy 9q

description: Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.


proton channel OTOP1

A protein that is a translation product of the human OTOP1 gene or a 1:1 ortholog thereof.


name: proton channel OTOP1 phosphorylated 1 (human)

description: A proton channel OTOP1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-382 of the amino acid sequence represented by UniProtKB:Q7RTM1. UniProtKB:Q7RTM1, Ser-382, MOD:00046.


tapasin cysteinylated 2 (human)

A tapasin (human) that has been cysteinylated on the residue at the position equivalent to Cys-315 of the amino acid sequence represented by UniProtKB:O15533-1. Example: UniProtKB:O15533-1, Cys-315, MOD:00765.


name: inositol-3-phosphate synthase 1 methylated 1 (human)

description: An inositol-3-phosphate synthase 1 (human) that has been methylated on the residue at the position equivalent to Cys-437 of the amino acid sequence represented by UniProtKB:Q9NPH2-1. Example: UniProtKB:Q9NPH2-1, Cys-437, MOD:00660.


name: collagen alpha-1(I) chain isoform 1 (human)

description: A collagen alpha-1(I) chain isoform 1 that is encoded in the genome of human.


name: paraneoplastic antigen Ma1 isoform 1 (human)

description: A paraneoplastic antigen Ma1 isoform 1 that is encoded in the genome of human.


Childhood Ovarian Mixed Germ Cell Tumor

description: A mixed germ cell tumor that arises from the ovary and occurs in children.


adhesion G protein-coupled receptor L1

A calcium-independent alpha-latrotoxin receptor that is a translation product of the human ADGRL1 gene or a 1:1 ortholog thereof.


name: adhesion G protein-coupled receptor L1 phosphorylated 1 (human)

description: An adhesion G protein-coupled receptor L1 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-731 of the amino acid sequence represented by UniProtKB:O94910-1. Example: UniProtKB:O94910-1, Tyr-731, MOD:00048.


name: adhesion G protein-coupled receptor L1 O-glycosylated 1 (human)

description: An adhesion G protein-coupled receptor L1 (human) that has been O-glycosylated at the residue equivalent to Thr-464 of the amino acid sequence represented by UniProtKB:O94910-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O94910-1, Thr-464, MOD:00005~GNO:G43417UB.


name: adhesion G protein-coupled receptor L1 isoform h1 (human)

description: An adhesion G protein-coupled receptor L1 (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:O94910-1.


name: adhesion G protein-coupled receptor L1 phosphorylated 2 (human)

description: An adhesion G protein-coupled receptor L1 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-326 of the amino acid sequence represented by UniProtKB:O94910-1. Example: UniProtKB:O94910-1, Tyr-326, MOD:00048.


name: adhesion G protein-coupled receptor L1 isoform h2 (human)

description: An adhesion G protein-coupled receptor L1 (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:O94910-2.


name: adhesion G protein-coupled receptor L1 cysteinylated 1 (human)

description: An adhesion G protein-coupled receptor L1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-83 of the amino acid sequence represented by UniProtKB:O94910-1. Example: UniProtKB:O94910-1, Cys-83, MOD:00765.


name: translation initiation factor eIF2B subunit delta methylated 1 (human)

description: A translation initiation factor eIF2B subunit delta (human) that has been methylated on the residue at the position equivalent to Cys-444 of the amino acid sequence represented by UniProtKB:Q9UI10-1. Example: UniProtKB:Q9UI10-1, Cys-444, MOD:00660.


name: Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform h1 (human)

description: An Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 (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:Q9ULH1-2.


A octadecanoid that is (10E,15Z)-octadecadienoic acid carrying three hydroxy substituents at positions 9, 12 and 13.


hexokinase-1 isoform 1 (human)

A hexokinase-1 (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:P19367-1.


name: collagen alpha-2(VI) chain methylated 1 (human)

description: A collagen alpha-2(VI) chain (human) that has been methylated on the residue at the position equivalent to Cys-777 of the amino acid sequence represented by UniProtKB:P12110-1. Example: UniProtKB:P12110-1, Cys-777, MOD:00660.


name: hydroxymethylglutaryl-CoA synthase, cytoplasmic cysteinylated 1 (human)

description: A hydroxymethylglutaryl-CoA synthase, cytoplasmic (human) that has been cysteinylated on the residue at the position equivalent to Cys-237 of the amino acid sequence represented by UniProtKB:Q01581. UniProtKB:Q01581, Cys-237, MOD:00765.


name: retinol dehydrogenase 5 sequence variant A294P (human)

description: A retinol dehydrogenase 5 (human) that has a Pro residue at the position equivalent to Ala-294 of the amino acid sequence represented by UniProtKB:Q92781. UniProtKB:Q92781, Ala-294, CHEBI:50342.


name: G-protein coupled receptor family C group 5 member D isoform h3 (human)

description: A G-protein coupled receptor family C group 5 member D (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:Q9NZD1-3.


name: G-protein coupled receptor family C group 5 member D isoform h1 (human)

description: A G-protein coupled receptor family C group 5 member D (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:Q9NZD1-1.


name: G-protein coupled receptor family C group 5 member D isoform 2 (human)

description: A G-protein coupled receptor family C group 5 member D isoform 2 that is encoded in the genome of human.


name: histone H4, initiator methionine removed acetylated 1 (human)

description: A histone H4 (human) that has had the initiator methionine removed and that has been acetylated at the position equivalent to Lys-17 of the amino acid sequence represented by UniProtKB:P62805. UniProtKB:P62805, 2-103, Lys-17, MOD:00064.


name: Metastatic malignant neoplasm to pituitary gland

description: A malignant neoplasm metastasizing to the pituitary gland from another anatomic site.  The vast majority are carcinomas usually arising from the breast, lung, and gastrointestinal tract.


name: Metastatic Malignant Neoplasm in the Sellar Region

description: A malignant neoplasm that has metastasized to the sellar region from another anatomic site.


name: transcriptional enhancer factor TEF-4 isoform h1 (human)

description: A transcriptional enhancer factor TEF-4 (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:Q15562-1.


name: partner and localizer of BRCA2 sequence variant E384* (human)

description: A partner and localizer of BRCA2 (human) that has has been truncated after the position equivalent to Leu-383 of the amino acid sequence represented by UniProtKB:Q86YC2. UniProtKB:Q86YC2, 1-383.


name: collagen alpha-1(I) chain, signal peptide removed 3-hydroxy-proline and 4-hydroxy-proline form (human)

description: A collagen alpha-1(I) chain (human) that has had the signal peptide removed and that includes at least one 3-hydroxy-proline and at least one 4-hydroxy-proline. UniProtKB:P02452, 23-1464, MOD:00038|MOD:00039.


name: collagen alpha-1(I) chain, signal peptide removed 5-hydroxy-lysine, 3-hydroxy-proline and 4-hydroxy-proline form (human)

description: A collagen alpha-1(I) chain (human) that has had the signal peptide removed and that includes at least one 5-hydroxy-lysine, at least one 3-hydroxy-proline and at least one 4-hydroxy-proline. UniProtKB:P02452, 23-1464, MOD:00037|MOD:00038|MOD:00039.


name: PHD finger protein 13 methylated 1 (human)

description: A PHD finger protein 13 (human) that has been methylated on the residue at the position equivalent to Cys-235 of the amino acid sequence represented by UniProtKB:Q86YI8. UniProtKB:Q86YI8, Cys-235, MOD:00660.


name: band 4.1-like protein 2 methylated 3 (human)

description: A band 4.1-like protein 2 (human) that has been methylated on the residue at the position equivalent to Cys-488 of the amino acid sequence represented by UniProtKB:O43491-1. Example: UniProtKB:O43491-1, Cys-488, MOD:00660.


perilipin-3 isoform h1 (human)

A perilipin-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:O60664-1.


syntaxin-binding protein 4

A protein that is a translation product of the human STXBP4 gene or a 1:1 ortholog thereof.


name: syntaxin-binding protein 4 isoform h2 (human)

description: A syntaxin-binding protein 4 (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:Q6ZWJ1-2.


name: syntaxin-binding protein 4 isoform h1 (human)

description: A syntaxin-binding protein 4 (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:Q6ZWJ1-1.


name: syntaxin-binding protein 4 methylated 1 (human)

description: A syntaxin-binding protein 4 (human) that has been methylated on the residue at the position equivalent to Cys-265 of the amino acid sequence represented by UniProtKB:Q6ZWJ1-1. Example: UniProtKB:Q6ZWJ1-1, Cys-265, MOD:00660.


ATPase WRNIP1 isoform h2 (human)

An ATPase WRNIP1 (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:Q96S55-2.


name: DNA damage-inducible transcript 4 protein cysteinylated 2 (human)

description: A DNA damage-inducible transcript 4 protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-140 of the amino acid sequence represented by UniProtKB:Q9NX09. UniProtKB:Q9NX09, Cys-140, MOD:00765.


name: DNA damage-inducible transcript 4 protein cysteinylated 1 (human)

description: A DNA damage-inducible transcript 4 protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-54 of the amino acid sequence represented by UniProtKB:Q9NX09. UniProtKB:Q9NX09, Cys-54, MOD:00765.


name: DNA damage-inducible transcript 4 protein methylated 1 (human)

description: A DNA damage-inducible transcript 4 protein (human) that has been methylated on the residue at the position equivalent to Cys-140 of the amino acid sequence represented by UniProtKB:Q9NX09. UniProtKB:Q9NX09, Cys-140, MOD:00660.


name: DNA damage-inducible transcript 4 protein phosphorylated 1 (human)

description: A DNA damage-inducible transcript 4 protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-223 of the amino acid sequence represented by UniProtKB:Q9NX09. UniProtKB:Q9NX09, Ser-223, MOD:00046.


name: DNA damage-inducible transcript 4 protein phosphorylated 2 (human)

description: A DNA damage-inducible transcript 4 protein (human) that has been phosphorylated on the residue at the position equivalent to Thr-25 of the amino acid sequence represented by UniProtKB:Q9NX09. UniProtKB:Q9NX09, Thr-25, MOD:00047.


name: DNA damage-inducible transcript 4 protein methylated 2 (human)

description: A DNA damage-inducible transcript 4 protein (human) that has been methylated on the residue at the position equivalent to Cys-93 of the amino acid sequence represented by UniProtKB:Q9NX09. UniProtKB:Q9NX09, Cys-93, MOD:00660.


name: oxidized purine nucleoside triphosphate hydrolase

description: A protein that is a translation product of the human NUDT1 gene or a 1:1 ortholog thereof.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp18 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (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:P36639-4.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp21 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (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:P36639-3.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp22 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (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:P36639-2.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp26 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (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:P36639-1.


name: phosphatidylcholine transfer protein isoform h2 (human)

description: A phosphatidylcholine transfer 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:Q9UKL6-2.


phosphatidylcholine transfer protein

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


name: phosphatidylcholine transfer protein deaminated 1 (human)

description: A phosphatidylcholine transfer protein (human) that has been deaminated on the residue at the position equivalent to Gln-182 of the amino acid sequence represented by UniProtKB:Q9UKL6-1. Example: UniProtKB:Q9UKL6-1, Gln-182, MOD:00685.


name: phosphatidylcholine transfer protein isoform 1 (human)

description: A phosphatidylcholine transfer protein isoform 1 that is encoded in the genome of human.


name: E3 ubiquitin-protein ligase ZNRF3, signal peptide removed ubiquitinated form (human)

description: An E3 ubiquitin-protein ligase ZNRF3 (human) that has had the signal peptide removed and that includes at least one ubiquitinated lysine. UniProtKB:Q9ULT6, 56-936, MOD:01148.


name: dual specificity tyrosine-phosphorylation-regulated kinase 2 ubiquitinated form (human)

description: A dual specificity tyrosine-phosphorylation-regulated kinase 2 (human) that includes at least one ubiquitinated lysine. UniProtKB:Q92630, MOD:01148.


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


pappalysin-1 deaminated 4 (human)

A pappalysin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-547 of the amino acid sequence represented by UniProtKB:Q13219. UniProtKB:Q13219, Asn-547, MOD:00684.


pappalysin-1 phosphorylated 1 (human)

A pappalysin-1 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-355 of the amino acid sequence represented by UniProtKB:Q13219. UniProtKB:Q13219, Tyr-355, MOD:00048.


pappalysin-1 deaminated 2 (human)

A pappalysin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-1487 of the amino acid sequence represented by UniProtKB:Q13219. UniProtKB:Q13219, Asn-1487, MOD:00684.


pappalysin-1 deaminated 5 (human)

A pappalysin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-1465 of the amino acid sequence represented by UniProtKB:Q13219. UniProtKB:Q13219, Asn-1465, MOD:00684.


pappalysin-1 deaminated 3 (human)

A pappalysin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-390 of the amino acid sequence represented by UniProtKB:Q13219. UniProtKB:Q13219, Asn-390, MOD:00684.


pappalysin-1 deaminated 1 (human)

A pappalysin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-1324 of the amino acid sequence represented by UniProtKB:Q13219. UniProtKB:Q13219, Asn-1324, MOD:00684.


Esophageal Dysphagia

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


oxygen radical

An inorganic radical in which a free electron resides on one or more oxygen atoms of an oxygen species.


cullin-7 deaminated 2 (human)

A cullin-7 (human) that has been deaminated on the residue at the position equivalent to Gln-244 of the amino acid sequence represented by UniProtKB:Q14999-1. Example: UniProtKB:Q14999-1, Gln-244, MOD:00685.


A 1,2-diacyl-sn-glycerol in which both the acyl groups are specified as arachidonoyl.


name: Stage IC Fallopian Tube Cancer AJCC v6 and v7

description: Stage IC includes: T1c, N0, M0.  T1c: Tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


name: leucine-rich repeat serine/threonine-protein kinase 1

description: A protein that is a translation product of the human LRRK1 gene or a 1:1 ortholog thereof.


name: leucine-rich repeat serine/threonine-protein kinase 1 isoform h2 (human)

description: A leucine-rich repeat serine/threonine-protein kinase 1 (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:Q38SD2-2.


name: leucine-rich repeat serine/threonine-protein kinase 1 isoform h1 (human)

description: A leucine-rich repeat serine/threonine-protein kinase 1 (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:Q38SD2-1.


sennetsu fever

description: A disease caused by infection with Neorickettsia sennetsu.


Anaplasmataceae infectious disease

description: Infections with bacteria of the family anaplasmataceae.


human monocytic ehrlichiosis

description: A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.


human granulocytic ehrlichiosis

description: A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.


Neorickettsia infectious disease

description: A disease caused by infection with Neorickettsia.


PHD finger protein 6 isoform h4 (human)

A PHD finger protein 6 (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:Q8IWS0-4.


ribokinase

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


ribokinase isoform h1 (human)

A ribokinase (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:Q9H477-1.


ribokinase isoform h2 (human)

A ribokinase (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:Q9H477-2.


A monovalent inorganic anion that consists of triphosphoric acid in which one of the five OH groups has been deprotonated.


name: synaptic vesicle glycoprotein 2B isoform 1 (human)

description: A synaptic vesicle glycoprotein 2B isoform 1 that is encoded in the genome of human.


pyoureter

description: An abscess that is located in the ureter.


name: histone H3.1, initiator methionine removed trimethylated 2 (human)

description: A histone H3.1 (human) that has had the initiator methionine removed and that has been trimethylated at the position equivalent to Lys-5 of the amino acid sequence represented by UniProtKB:P68431. UniProtKB:P68431, 2-136, Lys-5, MOD:00083.


name: Refractory Fallopian Tube Clear Cell Adenocarcinoma

description: Fallopian tube clear cell adenocarcinoma that is resistant to treatment.


A D-glucosylsphingosine(1+) obtained by protonation of the amino group of any beta-D-glucosylsphingosine; major species at pH 7.3.


name: Rho-associated protein kinase 1 isoform 1 unmodified form (human)

description: A Rho-associated protein kinase 1 isoform 1 unmodified form in human.


name: Rho-associated protein kinase 1 deaminated 1 (human)

description: A Rho-associated protein kinase 1 (human) that has been deaminated on the residue at the position equivalent to Gln-787 of the amino acid sequence represented by UniProtKB:Q13464. UniProtKB:Q13464, Gln-787, MOD:00685.


name: Rho-associated protein kinase 1, initiator methionine removed form (human)

description: A Rho-associated protein kinase 1 (human) that has had the initiator methionine removed. UniProtKB:Q13464, 2-1354.


name: Rho-associated protein kinase 1 deaminated 2 (human)

description: A Rho-associated protein kinase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-644 of the amino acid sequence represented by UniProtKB:Q13464. UniProtKB:Q13464, Asn-644, MOD:00684.


name: Rho-associated protein kinase 1 isoform 1 (human)

description: A Rho-associated protein kinase 1 isoform 1 that is encoded in the genome of human.


name: Rho-associated protein kinase 1 isoform 1 cleaved 1 (human)

description: A Rho-associated protein kinase 1 isoform 1 cleaved 1 in human. UniProtKB:Q13464-1, 1-1113.


name: Rho-associated protein kinase 1 phosphorylated 1 (human)

description: A Rho-associated protein kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1301 of the amino acid sequence represented by UniProtKB:Q13464. UniProtKB:Q13464, Ser-1301, MOD:00046.


name: butyrophilin subfamily 3 member A2, signal peptide removed form (human)

description: A butyrophilin subfamily 3 member A2 (human) that has had the signal peptide removed. Example: UniProtKB:P78410-1, 30-334.


spermatogenesis-associated protein 25

A protein that is a translation product of the human SPATA25 gene or a 1:1 ortholog thereof.


name: CYFIP-related Rac1 interactor B isoform h2 (human)

description: A CYFIP-related Rac1 interactor B (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:Q9NUQ9-2.


CYFIP-related Rac1 interactor B

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


name: CYFIP-related Rac1 interactor B, initiator methionine removed form (human)

description: A CYFIP-related Rac1 interactor B (human) that has had the initiator methionine removed. UniProtKB:Q9NUQ9, 2-324.


name: CYFIP-related Rac1 interactor B isoform 1 (human)

description: A CYFIP-related Rac1 interactor B isoform 1 that is encoded in the genome of human.


name: CYFIP-related Rac1 interactor B deaminated 1 (human)

description: A CYFIP-related Rac1 interactor B (human) that has been deaminated on the residue at the position equivalent to Gln-131 of the amino acid sequence represented by UniProtKB:Q9NUQ9-1. Example: UniProtKB:Q9NUQ9-1, Gln-131, MOD:00685.


A single-stranded DNA oligonucleotide comprising two 2'-deoxyguanosine residues connected by a 3'->5 linkage and with a phosphoric group at the 5'-terminus.


interleukin-17B isoform 1 (human)

An interleukin-17B isoform 1 that is encoded in the genome of human.


name: atrial natriuretic peptide receptor 1, signal peptide removed form (human)

description: An atrial natriuretic peptide receptor 1 (human) that has had the signal peptide removed. UniProtKB:P16066, 33-1061.


name: brain-derived neurotrophic factor isoform h1 (human)

description: A brain-derived neurotrophic factor (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:P23560-1.


name: next to BRCA1 gene 1 protein isoform h1 (human)

description: A next to BRCA1 gene 1 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:Q14596-1.


next to BRCA1 gene 1 protein

A protein that is a translation product of the human NBR1 gene or a 1:1 ortholog thereof.


name: next to BRCA1 gene 1 protein deaminated 2 (human)

description: A next to BRCA1 gene 1 protein (human) that has been deaminated on the residue at the position equivalent to Asn-935 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Asn-935, MOD:00684.


name: next to BRCA1 gene 1 protein phosphorylated 1 (human)

description: A next to BRCA1 gene 1 protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-116 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Ser-116, MOD:00046.


name: next to BRCA1 gene 1 protein deaminated 1 (human)

description: A next to BRCA1 gene 1 protein (human) that has been deaminated on the residue at the position equivalent to Gln-916 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Gln-916, MOD:00685.


name: next to BRCA1 gene 1 protein deaminated 4 (human)

description: A next to BRCA1 gene 1 protein (human) that has been deaminated on the residue at the position equivalent to Asn-945 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Asn-945, MOD:00684.


name: next to BRCA1 gene 1 protein deaminated 3 (human)

description: A next to BRCA1 gene 1 protein (human) that has been deaminated on the residue at the position equivalent to Gln-933 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Gln-933, MOD:00685.


name: next to BRCA1 gene 1 protein isoform h2 (human)

description: A next to BRCA1 gene 1 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:Q14596-2.


name: next to BRCA1 gene 1 protein cysteinylated 2 (human)

description: A next to BRCA1 gene 1 protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-739 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Cys-739, MOD:00765.


name: next to BRCA1 gene 1 protein methylated 1 (human)

description: A next to BRCA1 gene 1 protein (human) that has been methylated on the residue at the position equivalent to Cys-533 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Cys-533, MOD:00660.