Becker muscular dystrophy

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Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


X chromosome

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The sex chromosome present in both sexes of species in which the male is the heterogametic sex. Two copies of the X chromosome are present in each somatic cell of females and one copy is present in males.


DMD

A dystrophin that is encoded in the genome of human.


Range(s) of DNA sequences examined

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Haloperidol

A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4 and an N-linked p-fluorobutyrophenone moiety.


Prolactin | Serum or Plasma | Chemistry - challenge


hyperprolactinemia

Abnormally high level of prolactin in the blood.


An ATP-binding cassette sub-family D member 1 that is encoded in the genome of mouse.


Mutation Rate

The frequency of mutations in a sample.


adrenoleukodystrophy

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


Chronic hepatopathy due to metabolic defect


DNA analysis for drug metabolism or processing, variants and phenotypes, whole blood or buccal specimen


A breast cancer type 1 susceptibility protein that is encoded in the genome of human.


Intracellular Fluorescence Polarization Analysis

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Hybridization Barriers

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Sarcoma with BCOR genetic alterations

A group of rare primitive round cell sarcomas characterized by the presence of BCOR genetic alterations. This category includes sarcomas with BCOR-related gene fusions, most frequently BCOR-CCNB3, and sarcomas showing internal tandem duplication (BCOR-ITD).


BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome

An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer.


Woman

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congenital hypothyroidism

A thyroid hormone deficiency present from birth.


hypothyroidism due to iodide transport defect

A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.


COS-7 Cells

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von Willebrand disease type 2B

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


von Willebrand factor (vWf) Ag | Platelet poor plasma | Coagulation


A proprotein convertase subtilisin/kexin type 9 that is encoded in the genome of mouse.


hypercholesterolemia, autosomal dominant, type B

An autosomal dominant condition caused by mutation(s) in the APOB gene, encoding apolipoprotein B-100. It is characterized by hypercholesterolemia and abnormal low-density lipoproteins.


1. OSSABOW MINIATURE PIG WITH RDNA CONSTRUCT PCSK-D374Y INSERTED INTO COL21A1 LOCUS ON CHROMOSOME 7


SELENON-related myopathy

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.


Mallory Bodies Present

A morphologic finding indicating the presence of Mallory bodies in the liver parenchyma.  Mallory bodies are eosinophilic cytoplasmic inclusions in the hepatocytes.  They contain filaments and are present in the liver parenchyma of patients with various liver disorders including alcoholic liver disease, Wilson disease, and primary biliary cirrhosis.


Ovarian failure, in a subset of affected patients (ovarioleukodystrophy)


Epinephrine

The R-enantiomer of adrenaline. It is a hormone secreted by the adrenal glands resulting in the 'fight-or-flight' response.


myocardial stunning

Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.


Severe left ventricular systolic dysfunction


Trazodone

An N-arylpiperazine in which one nitrogen is substituted by a 3-chlorophenyl group, while the other is substituted by a 3-(3-oxo[1,2,4]triazolo[4,3-a]pyridin-2(3H)-yl)propyl group.


nigrostriatal tract

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The term nigrostriatal fibers refers to a dopaminergic fiber pathway connecting the substantia nigra with the striatum. It is not readily distinguished in myelin-stained cross-sections (Carpenter-83).


TGFBI

A transforming growth factor-beta-induced protein ig-h3 that is encoded in the genome of human.


lattice corneal dystrophy type I

Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.


granular corneal dystrophy type I

Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


ANKH

A progressive ankylosis protein that is encoded in the genome of human.


Pyrophosphoric acid

An acyclic phosphorus acid anhydride obtained by condensation of two molecules of phosphoric acid.


chondrocalcinosis

An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.


Distinct Procedural Service

biolink:Activity biolink:NamedThing biolink:ActivityAndBehavior biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


BRAF

A B-Raf proto-oncogene serine/threonine-protein kinase that is encoded in the genome of human.


melanoma

A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.


Finding of functional performance and activity


SLCO1B1 variant of uncertain significance


A protein that is a translation product of the human PLEKHG4 gene or a 1:1 ortholog thereof.


Abnormal actin polymerization and dynamics


Protein Aggregation, Pathological

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


cerebellar degeneration

Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.


ALG6-congenital disorder of glycosylation 1C

A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).


Cells

The smallest units of living structure capable of independent existence, composed of a membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid.


A dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase that is encoded in the genome of human.


Father (person)

biolink:Cohort biolink:StudyPopulation biolink:PopulationOfIndividualOrganisms biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:SubjectOfInvestigation biolink:ThingWithTaxon


primary cutaneous follicle center lymphoma

A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.


A chromosome band present on 14q


leg dermatosis

A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)


A chromosome band present on 18q


A chromosome band present on 9p


A cyclin-dependent kinase inhibitor 2A (human), isoforms h1, h2, h3, and h5.


methylation

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

The process in which a methyl group is covalently attached to a molecule.


Clinical Significance

A finding that has treatment or management implications for a patient's condition.


Ribavirin

A 1-ribosyltriazole that is the 1-ribofuranosyl derivative of 1,2,4-triazole-3-carboxamide. A synthetic guanosine analogue, it is an inhibitor of HCV polymerase and possesses a broad spectrum of activity against DNA and RNA viruses.


hemolytic anemia

Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.


anemia

A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.


Other unknown and unspecified cause of morbidity and mortality


Metoprolol

A propanolamine that is 1-(propan-2-ylamino)propan-2-ol substituted by a  4-(2-methoxyethyl)phenoxy group at position 1.


AMINO ACIDS/PROTEINS,PARENTERAL,WITH ADDED ELECTROLYTES


nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.


cytoplasm

The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.


anaerobic catabolism of pairs of amino acids


Cognitive functions

biolink:Behavior biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:OntologyClass biolink:ActivityAndBehavior biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


biolink:ClinicalAttribute biolink:Attribute biolink:NamedThing biolink:OntologyClass


Diminished mental function after chemotherapy.


Ndp

A norrin that is encoded in the genome of mouse.


Norrie disease

A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.


X-Linked Familial Exudative Vitreoretinopathy


A tyrosine-protein phosphatase non-receptor type 22 that is encoded in the genome of mouse.


A voltage-dependent calcium channel subunit alpha-2/delta-4 that is encoded in the genome of human.


cone dystrophy

An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.


A0A0G2Z2I7_STRAG Transcriptional regulator, Rga contains true premature stop codon (trembl)


Open Reading Frame

A sequence of nucleotides in that contains no termination codons and so can potentially translate as a polypeptide chain.


A retinoblastoma-associated protein that is encoded in the genome of human.


Haplotypes

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molecular testing for public health related pathogen including coronavirus


An interferon regulatory factor 6 that is encoded in the genome of human.


tooth agenesis

A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.


A fibroblast growth factor receptor 1 that is encoded in the genome of human.


gonadal agenesis

A congenital disorder characterized by the complete absence of gonadal tissue.


A homeobox protein MSX-1 that is encoded in the genome of human.


TGFA

A protransforming growth factor alpha that is encoded in the genome of human.


A cytochrome P450 2F1 that is encoded in the genome of human.


protein

An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof.


lung cancer

A malignant neoplasm involving the lung.


Succimer

A sulfur-containing carboxylic acid that is succinic acid bearing two mercapto substituents at positions 2 and 3. A lead chelator used as an antedote to lead poisoning.


Affective Disorders, Psychotic

The manifestation of psychotic symptoms, such as hallucinations or delusions, in the presence of a mood disorder.


TNMD

A tenomodulin that is encoded in the genome of human.


type 2 diabetes mellitus

A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.


A FERM domain-containing protein 7 that is encoded in the genome of human.


cone dystrophy with supernormal rod response

Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.


A voltage-gated potassium channel KCNV2 that is encoded in the genome of human.


Visual Acuity

Sharpness of vision, the ability to discern fine detail.


Arthritis (e.g., degenerative joint disease (DJD), osteoarthritis, and rheumatoid arthritis (RA))


An interferon regulatory factor 5 that is encoded in the genome of human.


mitochondrial DNA depletion syndrome 4a

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


A DNA polymerase subunit gamma-1 that is encoded in the genome of fruit fly.


DNA polymerase subunit gamma-1

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


Documented history of renal failure or baseline serum creatinine >= 4.0 mg/dl; renal transplant recipients are not considered to have preoperative renal failure, unless, since transplantation the cr has been or is 4.0 or higher


proteinuria

The presence of abnormal amounts of protein in the urine.


Sirolimus

A macrolide lactam isolated from Streptomyces hygroscopicus consisting of a 29-membered ring containing 4 trans double bonds, three of which are conjugated. It is an antibiotic, immunosupressive and antineoplastic agent.


A serine/threonine-protein kinase Sgk1 that is encoded in the genome of human.


nephrotic syndrome

A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.


Volume excess, primary renal sodium retention


renal fibrosis

A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.


uremia

A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.


comparative DNA analysis using multiple selected SNPS


A proton-coupled zinc antiporter SLC30A8 that is encoded in the genome of human.


Polycystic ovary syndrome of bilateral ovaries


monosomy

A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.


A protein diaphanous homolog 3 that is encoded in the genome of human.


IRIDA syndrome

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


AIDS, Clinical Trials on Patients with AIDS-Related Malignancies


Tenofovir Disoproxil Fumarate

A fumarate salt prepared from equimolar amounts of tenofovir disoproxil and fumaric acid. It is used in combination therapy for the treatment of HIV infection.


kidney failure

An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.


Patients on immune checkpoint inhibitor therapy


Tenofovir

A member of the class of phosphonic acids that is methylphosphonic acid in which one of the methyl hydrogens is replaced by a [(2R)-1-(6-amino-9H-purin-9-yl)propan-2-yl]oxy group. An inhibitor of HIV-1 reverse transcriptase, the bis(isopropyloxycarbonyloxymethyl) ester (disoproxil ester) prodrug is used as the fumaric acid salt in combination therapy for the treatment of HIV infection.


Irinotecan

A member of the class of pyranoindolizinoquinolines that is the carbamate ester obtained by formal condensation of the carboxy group of [1,4'-bipiperidine]-1'-carboxylic acid with the phenolic hydroxy group of (4S)-4,11-diethyl-4,9-dihydroxy-1H-pyrano[3',4':6,7]indolizino[1,2- hydrochloride]quinoline-3,14-dione. Used (in the form of its hydrochloride salt trihydrate) in combination with fluorouracil and leucovorin, for the treatment of patients with metastatic adenocarcinoma of the pancreas after disease progression following gemcitabine-based therapy. It is converted via hydrolysis of the carbamate linkage to its active metabolite, SN-38, which is ~1000 times more active.


systemic blood circulation

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


Fulminant Hepatic Failure with Cerebral Edema


brain edema

Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)


FUNCTIONS AND ABNORMAL FUNCTIONS OF THE KIDNEY AND URETER


A0A8S3QKA6_MYTED Nuclear factor 1 C-type,Nuclear factor 1 A-type,Nuclear factor 1 B-type,Nuclear factor 1 X-type,Nuclear factor 1 (trembl)


A0A8C2JBM6_CYPCA Nuclear factor of activated T cells 2b (trembl)


BMP receptor-regulated smad protein

A smad protein that mediates signal transduction through activation of bone morphogenetic protein (BMP) or anti-Mullerian hormone pathways.


Osteoblasts

Cells which secrete an extracellular matrix into which hydroxyapaetite crystals are deposited to form bone.


prostate cancer

A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.


Nitroglycerin

A nitroglycerol that is glycerol in which the hydrogen atoms of all three hydroxy groups are replaced by nitro groups. It acts as a prodrug, releasing nitric oxide to open blood vessels and so alleviate heart pain.


orthostatic hypotension

Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.


Ras activation upon Ca2+ influx through NMDA receptor (Homo sapiens)

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


skeletal muscle fiber differentiation

The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle fiber cell. Skeletal muscle fiber differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual skeletal muscle fibers fuse to form bigger myotubes and start to contract.


Hyperuricaemic nephropathy

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


Asenapine

A racemate consisting of equal amounts of (R,R)- and (S,S)-asenapine. Used as its maleate salt for the acute treatment of schizophrenia and acute treatment of manic or mixed episodes associated with bipolar I disorder with or without psychotic features.


schizophrenia

A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.


Adult T-cell leukemia/lymphoma in remission


Initiation of prolonged chemotherapy infusion, more than 8 hours, requiring use of implantable pump


A gap junction alpha-8 protein that is encoded in the genome of human.


Abnormal anterior eye segment morphology

An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).


ARX

A homeobox protein ARX that is encoded in the genome of human.


non-syndromic intellectual disability

An intellectual disability that is not part of a larger syndrome.


Mislocalization of ganglia in circular and longitudinal cell layers


Abnormal cellular phenotype

An anomaly of cellular morphology or physiology.


male infertility

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.


tat peptide (48-60), Human immunodeficiency virus 1


acute megakaryoblastic leukemia in down syndrome


A protein C-ets-2 that is encoded in the genome of human.


little c big D little e haplotype (finding)


Isoproterenol

A secondary amino compound that is noradrenaline in which one of the hydrogens attached to the nitrogen is replaced by an isopropyl group. A sympathomimetic acting almost exclusively on beta-adrenergic receptors, it is used (mainly as the hydrochloride salt) as a bronghodilator and heart stimulant for the management of a variety of cardiac disorders.


A member of the class of  benzodioxoles that is 1,3-benzodioxole substituted by a 2-(methylamino)propyl group at position 5.


sleep

Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain.


memory

The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).


A homer protein homolog 1 that is encoded in the genome of human.


Secondary motor complications develop in 50% of those on levodopa therapy


Dyskinesia

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.


Diazinon

A member of the class of  pyrimidines that is pyrimidine carrying an isopropyl group at position 2, a methyl group at position 6 and a (diethoxyphosphorothioyl)oxy group at position 4.


Crocin

A diester that is crocetin in which both of the carboxy groups have been converted to their gentiobiosyl esters. It is one of the water-soluble yellow-red pigments of saffron and is used as a spice for flavouring and colouring food. Note that in India, the term 'Crocin' is also used by GlaxoSmithKline as a brand-name for paracetamol.


LDLR

A low-density lipoprotein receptor that is encoded in the genome of human.


Fentanyl

A monocarboxylic acid amide resulting from the formal condensation of the aryl amino group of N-phenyl-1-(2-phenylethyl)piperidin-4-amine with propanoic acid.


Midazolam

An imidazobenzodiazepine that is 4H-imidazo[1,5-a][1,4]benzodiazepine which is substituted by a methyl, 2-fluorophenyl and chloro groups at positions 1, 6 and 8, respectively.


Dehydroepiandrosterone

An androstanoid that is androst-5-ene substituted by a beta-hydroxy group at position 3 and an oxo group at position 17. It is a naturally occurring steroid hormone produced by the adrenal glands.


A0A224X814_9HEMI Putative discoidin domain receptor ddr1 (trembl)


Imatinib

A benzamide obtained by formal condensation of the carboxy group of 4-[(4-methylpiperazin-1-yl)methyl]benzoic acid with the primary aromatic amino group of 4-methyl-N(3)-[4-(pyridin-3-yl)pyrimidin-2-yl]benzene-1,3-diamine. Used (as its mesylate salt) for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours.


Ponatinib

A benzamide obtained by the formal condensation of the carboxy group of 3-(imidazo[1,2-b]pyridazin-3-ylethynyl)-4-methylbenzoic acid with the anilino group of 4-[(4-methylpiperazin-1-yl)methyl]-3-(trifluoromethyl)aniline. It is a multi-target tyrosine kinase inhibitor that targets ABL, SRC, FGFR, and others and was designed to overcome the resistance of BCR-ABL mutation to imatinib, in particular the gatekeeper mutation ABL(T315I).


A secondary carboxamide resulting from the formal condensation of the carboxy group of 4-[(4-ethylpiperazin-1-yl)methyl]-3-(trifluoromethyl)benzoic acid with the amino group of 5-(5-amino-2-methylphenoxy)-1,3-dihydro-2H-indol-2-one. It is a potent inhibitor of discoidin domain receptor tyrosine kinase 1 and 2 (DDR1/2) with IC50 = 105 nM and 413 nM, respectively.


Betaine

The amino acid betaine derived from glycine.


A signal transducer and activator of transcription 3 that is encoded in the genome of human.


Q7KJ42_DROME Pro-apoptotic Bcl-2/Bax-like protein (trembl)


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


A vasoactive intestinal polypeptide receptor 2 that is encoded in the genome of mouse.


Fucosylated Umbilical Cord Blood Regulatory T Cells


INTRAUTERINE GROWTH RETARDATION SUSPECTED


glomerulosclerosis

A hardening of the kidney glomerulus caused by scarring of the blood vessels.


An angiotensin II receptor 2 that is encoded in the genome of human.


Epidermal cells

An epithelial cell of the outer most layer of the skin.


Rete ridge elongation

Increased length of the rete rdiges of the epidermis.


I8U3U2_ASPO3 Nuclear transport receptor LGL2 (trembl)


ERBB signaling pathway

The series of molecular signals initiated by binding of a ligand to a member of the ERBB family of receptor tyrosine kinases on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


A growth arrest and DNA damage-inducible protein GADD45 alpha that is encoded in the genome of human.


Autologous MGMTP140K Lentiviral Vector-transduced HSCs

A preparation of autologous CD34+ hematopoietic stem cells (HSCs) transduced with a lentiviral-based proviral vector encoding for MGMTP140K, a mutant version of the human DNA repair protein O6-alkylguanine-DNA methyltransferase (MGMT), with potential protective activity against myelosuppression. MGMTP140K is resistant to the MGMT inhibitor O6-benzylguanine (O6BG; BG). Upon administration of the autologous MGMTP140K lentiviral vector-transduced HSCs back into the patient, the HSCs expressing the BG-resistant mutant MGMT protein could, when used in combination with BG, protect the hematopoietic system against the hematopoietic toxicity of BG by enabling normal methyltransferase activity. This protects hematopoiesis and allows for temozolomide (TMZ) and BG chemotherapy without myelosuppression. MGMT repairs TMZ-induced DNA methylation. The MGMT inhibitor BG depletes MGMT and thereby maximizes TMZ-mediated anti-tumor response. The depletion of MGMT in hematopoietic cells leads to unacceptable bone marrow toxicity.


VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors


Cancer Stem Cells

A malignant cell which may derive from mutations in normal stem cells. Cancer stem cells proliferate and give rise to other malignant cells. They may be present in very small numbers in the tumor and may not be present in all tumors. Many investigators believe that cancer stem cells cause relapse of the tumor and that novel cancer therapies should specifically target those cells.


RBC adhesion to endothelial/subendothelial adhesion molecules, whole blood, normoxic


Lactate

A hydroxy monocarboxylic acid anion that is the conjugate base of lactic acid, arising from deprotonation of the carboxy group.


Aldosterone measurement, high salt diet, urine


transient infantile hypertriglyceridemia and hepatosteatosis


non-alcoholic steatohepatitis

Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.


podocyte foot

biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A cell projection of a podocyte (glomerular visceral epithelial cell) forming a foot-like structure projecting from a podocyte primary projection, that wraps around capillaries of a renal glomerulus. Adjacent feet (pedicels) interdigitate, leaving thin filtration slits between them, which are covered by slit diaphragms.


cellular respiration

The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration).


High glucose concentration peritoneal dialysis solution


A myogenic factor 5 that is encoded in the genome of human.


fetal cardiomyocyte

A fetal and neonatal heart cell that undergoes proliferation and is not yet terminally differentiated into a binucleate or a multinucleate cardiac myocyte.


AKT kinase

A protein that has a core domain composition consisting of a PH domain (Pfam:PF00169), Protein kinase domain (Pfam:PF00069) and a Protein kinase C terminal domain (Pfam:PF00433). Mammals have three genes encoding AKT1, AKT2 and AKT3. The second messenger phosphatidylinositol-3,4,5-trisphosphate [PIP(3)], product of phosphatidylinositol 3-kinase, acts largely through its role as a kinase activator. Binding of the pleckstrin domain to PIP(3) results in its targeting to the plasma membrane. Full activity is gained only after phosphorylation at two sites.


A fibroblast growth factor receptor 2 that is encoded in the genome of human.


A transcription factor SOX-2 that is encoded in the genome of human.


transmembrane receptor protein tyrosine kinase signaling pathway

The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.


cancer

A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.


A DNA helicase MCM8 that is encoded in the genome of chicken.


Rad52 DNA Repair and Recombination Protein


Microtubules

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. (from LocusLink)


Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation


Neurons

Any of the conducting cells of the nervous system. A typical neuron consists of a cell body, containing the nucleus and the surrounding cytoplasm (perikaryon); several short radiating processes (dendrites); and one long process (the axon), which terminates in twiglike branches (telodendrons) and may have branches (collaterals) projecting along its course.


Neuronal migration defect

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


activation of hypoxia-inducible factor-1alpha signaling pathway


Increased expression of interferon-stimulated genes


mitochondrial outer membrane permeabilization during apoptotic cell death


NPAS4 regulates expression of target genes (Danio rerio)


Thiamine pyrophosphate measurement

biolink:Procedure biolink:NamedThing biolink:ActivityAndBehavior biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


Product substitution issue brand to generic

biolink:Phenomenon biolink:NamedThing biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


Decreased arylsulfatase A (ARSA) activity in urine, leukocytes, fibroblasts


phenylketonuria

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.


Clinical Outcomes in Routine Evaluation 10 clinical score


beta-1 adrenergic receptor

A beta adrenergic receptor that is a translation product of the human ADRB1 gene or a 1:1 ortholog thereof.


beta-2 adrenergic receptor

A beta adrenergic receptor that is a translation product of the human ADRB2 gene or a 1:1 ortholog thereof.


Terbutaline

A member of the class of phenylethanolamines that is catechol substituted at position 5 by a 2-(tert-butylamino)-1-hydroxyethyl group.


Methyldopa

A derivative of L-tyrosine having a methyl group at the alpha-position and an additional hydroxy group at the 3-position on the phenyl ring.


Deletions in the AMER1 gene destabilize the destruction complex (Homo sapiens)


cardiovascular surgery result: angina more severe


Deletions identified by in situ hybridization (ISH)


cardiovascular surgery result: angina less severe


Alpha-1-Fetoprotein^^adjusted for multiple gestations


A0A077H1I5_HUMAN VLCAD (Fragment) (trembl)


very long chain acyl-CoA dehydrogenase deficiency

An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.


very long-chain fatty acid beta-oxidation

A fatty acid beta-oxidation pathway acting on a very long chain fatty acid, a fatty acid with an aliphatic tail of 22 or more carbons. The partway stars with the conversion of an acyl-CoA to a trans-2-enoyl-CoA, catalyzed by acyl-CoA oxidase; the electrons removed by oxidation pass directly to oxygen and produce hydrogen peroxide, which is cleaved by peroxisomal catalases. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and ends when only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively).


Very long chain acyl-coenzyme A (CoA) dehydrogenase (VLCAD), leukocyte enzyme activity, whole blood


A mu-type opioid receptor that is encoded in the genome of human.


A chromosome band present on 6q


developmental delay, behavioral abnormalities, and neuropsychiatric disorders


ataxia - telangiectasia variant

Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.


ATM

A serine-protein kinase ATM that is encoded in the genome of human.


Absent distal and middle phalanges (severe phenotype)


J3SCR7_CROAD Myotonic dystrophy kinase (trembl)


WHYMPI significant-other responses subscale: distracting responses


An NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial that is encoded in the genome of human.


ring chromosome 1

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.


An NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial that is encoded in the genome of human.


ring chromosome 11

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.


An NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial that is encoded in the genome of human.


mitochondrial complex I deficiency

A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.


An ammonium ion derivative that is the conjugate acid of pethidine, obtained from the protonation of the piperidine moiety. It is the major microspecies at pH 7.3.


Central Nervous System Necrotic Lesion

A necrotic process affecting the brain and/or spinal cord.


Carbamazepine

A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.


Vigabatrin

A gamma-amino acid having a gamma-vinyl GABA structure. It is an irreversible inhibitor of gamma-aminobutyric 664 acid transaminase


Valproic Acid

A branched-chain saturated fatty acid that comprises of a propyl substituent on a pentanoic acid stem.


insulin secretion

The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects.


Antigen Processing and Presentation Pathway


Polish population

biolink:PopulationOfIndividualOrganisms biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:SubjectOfInvestigation biolink:ThingWithTaxon


Family History of High-Risk Germline Mutations


hereditary breast/ovarian cancer - BRCA1


A Ras-related protein Rab-6C that is encoded in the genome of human.


MCF-7 Cells

biolink:Cell biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

An adenocarcinoma cell line established in 1970 from the pleural effusion of a 69 year old Caucasian female patient with breast carcinoma.


Orthotopic transplantation of whole liver


Unspecified diabetes mellitus with end-stage renal disease [ESRD]


Creatinine | Serum or Plasma | Chemistry - challenge


chronic kidney disease

Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.


IVD Panels, Human Genetics, Eye Disorder, Retinopathy, Retinitis Pigmentosa, Autosomal Recessive, Mutation


glioma susceptibility

An inherited susceptibility or predisposition to developing glioma.


A gap junction beta-2 protein that is encoded in the genome of human.


mental and growth retardation with amblyopia


Hormone Resistance

A finding indicating decreased tissue sensitivity to a hormone.


Ganciclovir

An oxopurine that is  guanine substituted by a [(1,3-dihydroxypropan-2-yl)oxy]methyl group at position 9. Ganciclovir is an antiviral drug used to treat or prevent AIDS-related cytomegalovirus infections.


Foscarnet

Phosphoric acid in which one of the hydroxy groups is replaced by a carboxylic acid group. It is used as the trisodium salt as an antiviral agent in the treatment of cytomegalovirus retinitis (CMV retinitis, an inflamation of the retina that can lead to blindness) and as an alternative to ganciclovir for AIDS patients who require concurrent antiretroviral therapy but are unable to tolerate ganciclovir due to haematological toxicity.


Cidofovir

Cytosine substituted at the 1 position by a 3-hydroxy-2-(phosphonomethoxy)propyl group (S configuration). A nucleoside analogue, it is an injectable antiviral used for the treatment of cytomegalovirus (CMV) retinitis in AIDS patients.


Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.


atrial fibrillation

A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)


Endocrine Therapy Toxicity

Indicates that a toxicity adverse effect has been experienced during endocrine drug treatment.


Pseudohermaphrodite, male with adrenocortical disorder


A 3-oxo-5-alpha-steroid 4-dehydrogenase 2 that is encoded in the genome of human.


Dumbbell-shaped bilobed neutrophil nuclei (compound heterozygote)


mesonephric interstitial fibroblast development

The process whose specific outcome is the progression of a mesonephric interstitial fibroblast over time, from its formation to the mature structure.


Gitelman syndrome

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.


A solute carrier family 12 member 3 that is encoded in the genome of human.


factor V deficiency

A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


urinary bladder cancer

A primary or metastatic malignant neoplasm involving the bladder.


Cyclophosphamide

A phosphorodiamide that is 1,3,2-oxazaphosphinan-2-amine 2-oxide substituted by two 2-chloroethyl groups at the amino nitrogen atom.


22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


A0A4W6F0F8_LATCA Replication timing regulatory factor 1 (trembl)


A0A656KFU4_BLUGR Calmodulin Ca++ binding protein (trembl)


A transient receptor potential cation channel subfamily V member 6 that is encoded in the genome of human.


thyroid hormone resistance syndrome

An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.


An endothelin-1 that is encoded in the genome of human.


Morphine

A morphinane alkaloid that is a highly potent opiate analgesic psychoactive drug. Morphine acts directly on the central nervous system (CNS) to relieve pain but has a high potential for addiction, with tolerance and both physical and psychological dependence developing rapidly. Morphine is the most abundant opiate found in Papaver somniferum (the opium poppy).


myocardial infarction

Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.


A0A0F7SKR1_PHARH Alkyl hydroperoxide reductase, thiol specific antioxidant and related enzymes (trembl)


Nail Changes

Alteration of the normal characteristics of the fingernails or toenails. Examples include thickening, thinning, deformity, and separation from the nail bed.


Valdecoxib

A member of the class of isoxazoles that is isoxazole which is substituted at positions 3, 4 and 5 by phenyl, p-sulfamoylphenyl and methyl groups, respectively. A selective cyclooxygenase 2-inhibitor, it used as a nonsteroidal anti-inflammatory drug (NSAID) for the treatment of arthritis from 2001 until 2005, when it was withdrawn following concerns of an associated increased risk of heart attack and stroke.


Nonsteroidal antiinflammatory drugs | Blood | Drug toxicology


Presence of systemic lupus erythematosus [SLE] inhibitor


nephritis

Inflammation of renal tissue.


A CD72 molecule that is encoded in the genome of human.


A protein phosphatase Slingshot homolog 1 that is encoded in the genome of human.


disseminated superficial actinic porokeratosis

Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.


hepatitis C virus infection

A viral infection caused by the hepatitis C virus.


HCV Genotype Finding

The determination of the genotype of hepatitis c virus in a blood sample.


Sustained Virologic Response

A finding of aviremia at a predetermined time point after the end of planned or actual treatment.


familial long QT syndrome

A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.


Lidocaine

The monocarboxylic acid amide resulting from the formal condensation of N,N-diethylglycine with 2,6-dimethylaniline.


atrioventricular block

A heart block that is initiated in the atrioventricular node.


Mexiletine

An aromatic ether which is 2,6-dimethylphenyl ether of 2-aminopropan-1-ol.


ventricular tachycardia

A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)


A beta-1 adrenergic receptor that is encoded in the genome of human.


A prostate and breast cancer overexpressed gene 1 protein that is encoded in the genome of human.


liver and spleen

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


PAROTID PROLINE-RICH SALIVARY PROTEIN Pc


Short Tandem Repeat

Area of repetitive DNA within the genome consisting of multiple, end-to-end copies of a short DNA sequence usually comprised of di-, tri-, or tetranucleotide repeat units.


Renal Function

Pertaining to the physiologic processes of the kidneys.


Azithromycin

A macrolide antibiotic useful for the treatment of bacterial infections.


Bernard-Soulier syndrome

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


A platelet glycoprotein IX that is encoded in the genome of human.


Cytomegalovirus gene mutations detected:Prid:Pt:Isolate:Nom


primary central nervous system lymphoma

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


Breast cancer 2 (BRCA2) full analysis for detection of deletion and duplication variants


breast cancer

A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.


ovarian cancer

A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.


Injection, morphine sulfate, preservative-free for epidural or intrathecal use, 10 mg


Cerebrospinal fluid globulin above reference range


tropical spastic paraparesis

Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.


spinal cord ischemia

Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.


Amiodarone

A member of the class of 1-benzofurans that is 1-benzofuran substituted by a butyl group at position 2 and a 4-[2-(diethylamino)ethoxy]-3,5-diiodobenzoyl group at position 3. It is a  cardiovascular drug used for the treatment of cardiac dysrhythmias.


Low back pain

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


skin cancer

A malignant neoplasm involving the zone of skin


UV-induced skin damage, susceptibility to


A transferrin receptor protein 2 that is encoded in the genome of human.


Myelodysplastic Syndrome with Somatic Mutations

A myelodysplastic syndrome characterized by the presence of a point mutation in one of the following genes, TP53, EZH2, ETV6, RUNX1, and ASXL1. These gene mutations are independent predictors of poor prognosis.


primary hyperparathyroidism

Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.


MEN1 gene mutation analysis limited to known familial mutations


A collagen alpha-1(VII) chain that is encoded in the genome of human.


Adrenal mass

A swelling or enlargment localized to the adrenal gland. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


pheochromocytoma

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


ACE

An angiotensin-converting enzyme that is encoded in the genome of human.


gastric cancer

A primary or metastatic malignant neoplasm involving the stomach.


metastatic malignant neoplasm in the lymph nodes

The spread of a malignant neoplasm to the lymph nodes.


Atrial Fibrillation, CTCAE

A disorder characterized by a dysrhythmia without discernible P waves and an irregular ventricular response due to multiple reentry circuits. The rhythm disturbance originates above the ventricles.


Warfarin

A racemate comprising equal amounts of (R)- and (S)-warfarin. Extensively used as both an anticoagulant drug and as a pesticide against rats and mice.


type 1 diabetes mellitus

A chronic condition characterized by minimal or absent production of insulin by the pancreas.


endocrine system

Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity.


RN shift report for one patient

biolink:Activity biolink:NamedThing biolink:ActivityAndBehavior biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


Succinylcholine

A quaternary ammonium ion that is the bis-choline ester of succinic acid.


malignant hyperthermia of anesthesia

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


Rigid bronchoscopic removal of foreign body


Multiplex Amplifiable Probe Hybridization


conversion from previous gastric anastomosis to jejunum


Nicotine

A 3-(1-methylpyrrolidin-2-yl)pyridine in which the chiral centre has S-configuration. The naturally occurring and most active enantiomer of nicotine, isolated from Nicotiana tabacum.


anxiety

Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.


Caffeine

A trimethylxanthine in which the three methyl groups are located at positions 1, 3, and 7. A purine alkaloid that occurs naturally in tea and coffee.


dimenhydrinate / niacin / pentylenetetrazole


Monoallelic Mutation Positive

An indication that a mutation has been detected in only one allele of a gene.


Wolfram syndrome

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).


A0A6C1EBQ4_SACPS Phosphatidylinositol 4,5-bisphosphate levels regulator protein (trembl)


PEMT

A phosphatidylethanolamine N-methyltransferase that is encoded in the genome of human.


phosphatidylcholine

A glycerophosphocholine that is glycero-3-phosphocholine bearing two acyl substituents at positions 1 and 2.


non-alcoholic fatty liver disease

A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.


Vancomycin

A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile.


tubular adenocarcinoma

An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.


A period circadian protein homolog 2 that is encoded in the genome of human.


Secondary Protein Structure

The specific 3-dimensional folded protein structure that is determined by the hydrogen bonds formed between amino acids in the polypeptide chain.


Morning Sickness

The nausea and vomiting that accompanies early pregnancy.


organic circadian rhythm sleep disorder, advanced sleep phase type


Polish Pediatric Leukemia/Lymphoma Study Group


Frequent loss of heterozygosity at 6q24-q27


An oligophrenin-1 that is encoded in the genome of human.


Mental retardation, mild (carrier females)


Raloxifene

A member of the class of 1-benzothiophenes that is 1-benzothiophene in which the hydrogens at positions 2, 3, and 6 have been replaced by p-hydroxyphenyl, p-[2-(piperidin-1-yl)ethoxy]benzoyl, and hydroxy groups, respectively.


A carboxypeptidase B2 that is encoded in the genome of mouse.


venous thromboembolism

Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.


POLG

A DNA polymerase subunit gamma-1 that is encoded in the genome of human.


A0A9J6EQD5_RHIMP Catalytically inactive chitinase-like lectin (trembl)


nuclear-transcribed mRNA catabolic process, nonsense-mediated decay

The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins.


molecular diagnostics mutation identification by allele-specific transcription


A cytochrome P450 4V2 that is encoded in the genome of human.


Bietti crystalline corneoretinal dystrophy

Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.


migraine disorder

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


Summary of interaction between genetic variants


Platelet concentrate, pooling (procedure)


Height often shorter than unaffected family members


congenital microcoria

Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.


MYOC

A myocilin that is encoded in the genome of human.


juvenile open angle glaucoma

Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.


glaucoma

Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.


Inos

An inositol-3-phosphate synthase 1 that is encoded in the genome of fruit fly.


open-angle glaucoma

Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.


Microsatellite Repeat

A variety of simple di-, tri-, tetra-, and pentanucleotide tandem repeats that are dispersed in the euchromatic arms of most chromosomes.


Domperidone

1-[3-(Piperidin-1-yl)propyl]-1,3-dihydro-2H-benzimidazol-2-one in which the 4-position of the piperidine ring is substituted by a 5-chloro-1,3-dihydro-2H-benzimidazol-2-on-1-yl group. A dopamine antagonist, it is used as an antiemetic for the short-term treatment of nausea and vomiting, and to control gastrointestinal effects of dopaminergic drugs given in the management of parkinsonism. The free base is used in oral suspensions, while the maleate salt is used in tablet preparations.


restless legs syndrome

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


Ritanserin

A thiazolopyrimidine that is 5H-[1,3]thiazolo[3,2-a]pyrimidin-5-one which is substituted at position 7 by a methyl group and at position 6 by a 2-{4-[bis(4-fluorophenyl)methylidene]piperidin-1-yl}ethyl group. A potent and long-acting seratonin (5-hydroxytryptamine, 5-HT) antagonist of the subtype 5-HT2 (Ki = 0.39 nM), it is used in the treatment of a variety of disorders including anxiety, depression and schizophrenia. It has little sedative action.


casirivimab + imdevimab administration and post-administration monitoring


Multifocal Glioblastomas

The occurrence of multiple and independent glioblastomas that are unrelated to inherited neoplastic syndromes.


A cellular tumor antigen p53 that is encoded in the genome of human.


PTEN

A phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN that is encoded in the genome of human.


EGFR

An epidermal growth factor receptor that is encoded in the genome of human.


glioblastoma

The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)


A testis-specific Y-encoded-like protein 1 that is encoded in the genome of human.


sudden infant death syndrome

Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene.


Lynch syndrome

An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.


prefrontal cortex

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia.


colorectal cancer

A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.


breast immunostaining for haptoglobin-related protein


cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


epidermolysis bullosa simplex due to plakophilin deficiency

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.


Desmosomes

Desmosomes are intercellular anchoring junctions that anchor intermediate filaments at membrane-associated plaques in adjoining cells.  Desmosomes assemble in response to cell-cell contact and raised levels of extracellular calcium. Sensitivity to calcium levels is lost as desmosomes mature.


Methadone

A ketone that is heptan-3-one substituted by a dimethylamino group at position 6 and two phenyl groups at position 4.


Tempol

A member of the class of aminoxyls that is TEMPO carrying a hydroxy substituent at position 4. It is a radical scavenger which exhibits anti-inflammatory and analgesic properties.


Atorvastatin

A dihydroxy monocarboxylic acid that is a member of the drug class known as statins, used primarily for lowering blood cholesterol and for preventing cardiovascular diseases.


Dexamethasone

A fluorinated steroid that is 9-fluoropregna-1,4-diene substituted by hydroxy groups at positions 11, 17 and 21, a methyl group at position 16 and oxo groups at positions 3 and 20. It is a synthetic member of the class of  glucocorticoids.


Superoxide dismutase | Plasma | Chemistry - non-challenge


GAC codon-amino acid adaptor activity

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

A triplet codon-amino acid adaptor activity that recognizes a GAC codon.


A sodium-dependent phosphate transport protein 2C that is encoded in the genome of human.


hereditary hypophosphatemic rickets with hypercalciuria

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.


Deletions in the AXIN1 gene prevent expression of AXIN1 protein (Homo sapiens)


Chlorpromazine

A substituted phenothiazine in which the ring nitrogen at position 10 is attached to C-3 of an N,N-dimethylpropanamine moiety.


Eslicarbazepine acetate

The acetate ester, with S configuration, of licarbazepine. An anticonvulsant, it is approved for use in Europe and the United States as an adjunctive therapy for epilepsy.


An interleukin-1 beta that is encoded in the genome of human.


gastric adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the stomach


A polyglutamine-binding protein 1 that is encoded in the genome of human.


autism, susceptibility to, X-linked 2

A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).


BCOR

A BCL-6 corepressor that is encoded in the genome of human.


proximal tubule

In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO].


Q64SN4_BACFR Putative cysteine proteases (trembl)


famililal cerebral cavernous malformations

A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.


Potassium and Magnesium Depletion Gene Anomaly Detection Reagents


Idiopathic intracranial hypertension with papilledema


Transplant Recipients

biolink:Cohort biolink:StudyPopulation biolink:PopulationOfIndividualOrganisms biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:SubjectOfInvestigation biolink:ThingWithTaxon


skin carcinoma

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


Neonatal infections (excl congenital infections)


Nonketotic hyperglycinemia (glycine encephalopathy)


Valproate

A branched-chain saturated fatty acid anion that is the conjugate base of valproic acid.


Lysine

An L-alpha-amino acid; the L-isomer of lysine.


Olanzapine

A benzodiazepine that is 10H-thieno[2,3-b][1,5]benzodiazepine substituted by a methyl group at position 2 and a 4-methylpiperazin-1-yl group at position 4.


Risperidone

A member of the class of pyridopyrimidines that is 2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one carrying an additional 2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl group at position 2.


Weight Gain, CTCAE

A finding characterized by an unexpected or abnormal increase in overall body weight; for pediatrics, greater than the baseline growth curve.


ENG

An endoglin that is encoded in the genome of human.


A0A4D6AQW1_9CAUD Transcriptional regulation (trembl)


A disrupted in schizophrenia 1 protein that is encoded in the genome of human.


A nuclear distribution protein nudE homolog 1 that is encoded in the genome of human.


A cytochrome P450 1A1 that is encoded in the genome of human.


Cryptosporidium sp. deer mouse genotype III (W1)


PARKINSON DISEASE, AGE OF ONSET, MODIFIER


5-HIAA (5-Hydroxyindoleacetic Acid) Determination Reagents


Testosterone propionate

An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5..


aggression and violence motivation

biolink:Behavior biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:OntologyClass biolink:ActivityAndBehavior biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


inherited neurodegenerative disorder

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


Instruct patient, particularly elderly patients, about actions to prevent hypothermia from cold exposure


cyclooxygenase 2 inhibitor

A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2.


Acetaminophen

A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group.


Naproxen

A methoxynaphthalene that is 2-methoxynaphthalene substituted by a carboxy ethyl group at position 6. Naproxen is a non-steroidal anti-inflammatory drug commonly used for the reduction of pain, fever, inflammation  and stiffness caused by conditions such as osteoarthritis, kidney stones, rheumatoid arthritis, psoriatic arthritis, gout, ankylosing spondylitis, menstrual cramps, tendinitis, bursitis, and for the treatment of primary dysmenorrhea. It works by inhibiting both the COX-1 and COX-2 enzymes.


Celecoxib

A member of the class of pyrazoles that is 1H-pyrazole which is substituted at positions 1, 3 and 5 by 4-sulfamoylphenyl, trifluoromethyl and p-tolyl groups, respectively. A cyclooxygenase-2 inhibitor, it is used in the treatment of arthritis.


Quinine

A cinchona alkaloid that is cinchonidine in which the hydrogen at the 6-position of the quinoline ring is substituted by methoxy.


Multiple premature ventricular complexes


Encounter for 11-12 year old well child visit


intellectual developmental disorder with macrocephaly, seizures, and speech delay


Developmental delay

Failure to meet, or late achievement of developmental milestones.


serotonin secretion, neurotransmission

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

The regulated release of serotonin by a cell, in which released serotonin acts as a neurotransmitter.


Psychogenic syncope

A condition in which syncope occurs due to a conversion disorder. (ACC/AHA)


Buprenorphine

A morphinane alkaloid that is 7,8-dihydromorphine 6-O-methyl ether in which positions 6 and 14 are joined by a -CH2CH2- bridge, one of the hydrogens of the N-methyl group is substituted by cyclopropyl, and a hydrogen at position 7 is substituted by a 2-hydroxy-3,3-dimethylbutan-2-yl group. It is highly effective for the treatment of opioid use disorder and is also increasingly being used in the treatment of chronic pain.


Short QTc Interval

An electrocardiographic finding of a QT interval corrected for heart rate that is shorter than the lower limit of normal. Thresholds for different age, gender, and patient populations exist. (CDISC)


A bone morphogenetic protein 5 that is encoded in the genome of human.


short stature with nonspecific skeletal abnormalities


Cell therapy for scleroderma of hands using patient's own fat cells


Myocardial Performance Index

A calculated result that uses the following formula to quantify both systolic and diastolic ventricular function: MPI = IVCT + IVRT) / V ET, in which IVCT is isovolumetric contraction time, IVRT is isovolumetric relaxation time, and V ET is ventricular ejection time.


myocardial ischemia

A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).


Dobutamine

A  catecholamine that is 4-(3-aminobutyl)phenol in which one of the hydrogens attached to the nitrogen is substituted by a 2-(3,4-dihydroxyphenyl)ethyl group. A beta1-adrenergic receptor agonist that has cardiac stimulant action without evoking vasoconstriction or tachycardia, it is used as the hydrochloride to increase the contractility of the heart in the management of acute heart failure.


van der Woude syndrome 2

Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.


Anti-centromere antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


Increase in TLR2+ (603028)/TLR4- (603030) granulocytes


innate immune receptor activity

Receiving a signal and transmitting it in a cell to initiate an innate immune response.


urolithiasis

Stone(s) within the urinary tract.


adaptive behavior treatment by protocol patient group


A phospholipid hydroperoxide glutathione peroxidase that is encoded in the genome of human.


Common arterial trunk and common origin of pulmonary arteries


Neonatal hearing impairment

An abnormality that affects hearing within the first month after birth. It may or may not result in hearing loss.


Gap junction protein, beta 6, 30kDa, connexin 30 (GJB6) gene analysis for detection of 309kb (del[GJB6-D13S1830]) variant


G C G T T T G C T C T T C T T C T T G C G (phosphorothioate linkage)


FGFR3 gene G380R amino acid substitutions


A0A916KE06_PICAB SQUAMOSA BINDING PROTEIN-LIKE1 acrocona mutant allele (trembl)


Lamivudine

A monothioacetal that consists of cytosine having a (2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl moiety attached at position 1. An inhibitor of HIV-1 reverse transcriptase, it is used as an antiviral in the treatment of AIDS and hepatitis B.


HIV indeterminate (infants of undetermined HIV status born of HIV-infected mothers) (HIV)


Ritonavir

An L-valine derivative that is L-valinamide in which alpha-amino group has been acylated by a [(2-isopropyl-1,3-thiazol-4-yl)methyl]methylcarbamoyl group and in which a hydrogen of the carboxamide amino group has been replaced by a (2R,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl group. A CYP3A inhibitor and antiretroviral drug from the protease inhibitor class used to treat HIV infection and AIDS, it is often used as a fixed-dose combination with another protease inhibitor, lopinavir. Also used in combination with dasabuvir sodium hydrate, ombitasvir and paritaprevir (under the trade name Viekira Pak) for treatment of chronic hepatitis C virus genotype 1 infection as well as cirrhosis of the liver.


cholesteryl ester

A sterol ester obtained by formal condensation of the carboxy group of any carboxylic acid with the 3-hydroxy group of cholesterol.


A paired box protein Pax-9 that is encoded in the genome of human.


focal dermal hypoplasia

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


PORCN

A protein-serine O-palmitoleoyltransferase porcupine that is encoded in the genome of human.


Mismatch Repair Deficiency

A finding indicating that a cellular sample has high microsatellite instability and/or a functional loss of a protein involved in the DNA mismatch repair process.


Treatment related acute myeloid leukaemia

An acute myeloid leukemia arising as a result of the mutagenic effect of chemotherapy agents and/or ionizing radiation.  (WHO, 2001)


SELP

A P-selectin that is encoded in the genome of human.


An interleukin-1 receptor-associated kinase 1 that is encoded in the genome of human.


Bupivacaine

A racemate composed of equimolar amounts of dextrobupivacaine and levobupivacaine. Used (in the form of its hydrochloride hydrate) as a local anaesthetic.


An acetylcholine receptor subunit beta that is encoded in the genome of human.


RAPSN

A 43 kDa receptor-associated protein of the synapse that is encoded in the genome of human.


congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.


fetal akinesia deformation sequence 2

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.


RNASEL

A 2-5A-dependent ribonuclease that is encoded in the genome of human.


A0A151ZHH1_TIELA RNaseL inhibitor-like protein (trembl)


A bone morphogenetic protein 4 that is encoded in the genome of mouse.


L7R9Z1_9TELE Gonadotropin subunit LHbeta (trembl)


B8NAI7_ASPFN p38 MAPK, putative (trembl)


Amikacin

An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group.


tumor lysis syndrome

A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.


hypertensive encephalopathy

Encephalopathy resulting from hypertension.


A protein that is a translation product of the CHX10 gene in Arabidopsis thaliana.


biolink:ClinicalAttribute biolink:Attribute biolink:NamedThing biolink:OntologyClass


BAP1 Loss of Function Mutation Positive

An indication that expression of BAP1 with a loss of function mutation has been detected in a sample.


Double Pituitary Neuroendocrine Tumors of Distinct Lineages

Pituitary neuroendocrine tumors composed of adenohypopheseal cells of two lineages or a null cell tumor in combination with a lineage-specific pituitary neuroendocrine tumor in the same gland.


growth hormone-producing pituitary gland adenoma

An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.


Loss of Heterozygosity (LOH) Detection Reagents


Schmorl's node

A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.


congestive heart failure

Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.


Tacrolimus

A macrolide lactam containing a 23-membered lactone ring, originally isolated from the fermentation broth of a Japanese soil sample that contained the bacteria Streptomyces tsukubaensis.


Everolimus

A macrocyclic lactone that is rapamycin in which the hydroxy group attached to the cyclohexyl moiety has been converted into the corresponding 2-hydroxyethyl ether. It is an immunosuppressant and antineoplastic agent.


hyperlipidemia

Elevated levels of lipids in the blood.


Renal Tubule Damage

Damage to the renal tubules.


Hyperchromasia of renal tubular epithelial cells

At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.


Curcumin

A beta-diketone that is methane in which two of the hydrogens are substituted by feruloyl groups. A natural dyestuff found in the root of Curcuma longa.


Apoptosis

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


A transcription factor Sp3 that is encoded in the genome of chicken.


bladder benign neoplasm

A benign abnormal growth of the cells that comprise the bladder.


Urethane

A carbamate ester obtained by the formal condensation of ethanol with carbamic acid. It has been found in alcoholic beverages.


Penicillin G potassium

Organic potassium salt of benzylpenicillin.


Interictal epileptiform activity

Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.


A transcription factor GATA-4 that is encoded in the genome of human.


congenital heart disease

A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.


ventricular septal defect

The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.


A0A7Y8ISD3_UNCSY ThaI family type II restriction endonuclease (trembl)


Familial non-autoimmune autosomal dominant hyperthyroidism


hyperthyroidism

Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.


dystrophin

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


Homogentisic acid

A dihydroxyphenylacetic acid having the two hydroxy substituents at the 2- and 5-positions.


HGD

A homogentisate 1,2-dioxygenase that is encoded in the genome of human.


alkaptonuria

A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 that is encoded in the genome of human.


nephrotic syndrome, type 3

Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


Diffuse mesangial sclerosis with ocular abnormalities


A neurofibromin that is encoded in the genome of human.


ovarian serous cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.


TP53 gene targeted mutation analysis | Blood or Tissue | Mutations


craniosynostosis with ocular abnormalities and hallucal defects


Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor with Microinvasion

A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic serous epithelial cells, atypia, and microinvasion of the ovarian stroma.


Decreased diastolic blood pressure

Abnormal decrease in diastolic blood pressure.


Susceptibility to human papillomavirus (HPV) genotypes


A P2X purinoceptor 7 that is encoded in the genome of human.


A chromosome band present on 12q


bipolar disorder

A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.


osteogenesis imperfecta type 3

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).


A forkhead box protein F2 that is encoded in the genome of human.


cleft palate

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


coagulation factor IX, human 1 UNT / coagulation factor X, human 1 UNT / factor VII, human 1 UNT / protein C, human 1 UNT / protein S, human 1 UNT / prothrombin, human 1 UNT Injection


Metronidazole

A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death.


macular corneal dystrophy

Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


A carbohydrate sulfotransferase 6 that is encoded in the genome of human.


keratan sulfate metabolic process

The chemical reactions and pathways involving keratan sulfate, a glycosaminoglycan with repeat units consisting of beta-1,4-linked D-galactopyranosyl-beta-(1,4)-N-acetyl-D-glucosamine 6-sulfate and with variable amounts of fucose, sialic acid and mannose units; keratan sulfate chains are covalently linked by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylose to peptidyl-threonine or serine residues.


GNPTG

An N-acetylglucosamine-1-phosphotransferase subunit gamma that is encoded in the genome of human.


GNPTG-mucolipidosis

A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


A0A0L8VR08_9SACH UPF3p Component of the nonsense-mediated mRNA decay (NMD) pathway (trembl)


Aberrantly Conducted Complexes by ECG Finding

An electrocardiographic finding of abnormal QRS complex(es) that are supraventricular in origin, and that are wide secondary to aberrant AV conduction. (CDISC)


DGUOK

A deoxyguanosine kinase, mitochondrial that is encoded in the genome of human.


A0A0U5G217_ASPCI Putative Complex: FZO1 of S. cerevisiae is part of a larger protein complex of 800 kDa (trembl)


purine deoxyribonucleoside

A deoxyribonucleoside containing a purine base.


heart

A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ.


JUN kinase activity

Catalysis of the reaction: JUN + ATP = JUN phosphate + ADP. This reaction is the phosphorylation and activation of members of the JUN family, a gene family that encodes nuclear transcription factors.


A0A9P6VR23_9HELO Akt phosphorylation enhancer (trembl)


asthma

A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.


Hypomorphic RAG1 Deficiency

A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.


Non-small cell lung cancer recurrent

The re-emergence of non-small cell lung carcinoma after a period of remission.


Phosphorylated RAC Serine/Threonine Kinase Family Protein


An adenosine receptor A2a that is encoded in the genome of human.


autism

Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.


multidrug-resistant tuberculosis

A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.


Hallucinogens (LSD, acid, mushrooms, PCP, Special K, ecstasy, etc.)


Cocaine

A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca.


Levofloxacin

An optically active form of ofloxacin having (S)-configuration; an inhibitor of bacterial topoisomerase IV and DNA gyrase.


cytochrome P450 1A2

A protein that is a translation product of the human CYP1A2 gene or a 1:1 ortholog thereof.


antibiotic sensitivity studies to levofloxacin


Pilocarpine

The (+)-enantiomer of pilocarpine.


A2NU73_PIG Porcine muscarinic acetylcholine receptor (mAChR) (trembl)


A voltage-dependent L-type calcium channel subunit alpha-1S that is encoded in the genome of human.


hypokalemic periodic paralysis

Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.


TP53 Overexpression Positive

An indication that overexpression of TP53 has been detected in a sample.


cholangiocarcinoma

A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.


HIV Seroconversion

An indication that HIV antibodies have developed and become detectable in the serum.


A forkhead box protein P3 that is encoded in the genome of human.


psoriasis

An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.


Hemoglobin Alpha cis-Deletion Genotype

A genetic finding indicating that one copy of chromosome 16 has two functional copies of the hemoglobin alpha (HBA) genes and the other copy of has no functional HBA genes. This genotype is associated with the alpha thalassemia trait.


Dothideomycetes sp. genotype 924 JMUR-2014


small cell carcinoma

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


adenocarcinoma

A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.


cognition

The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.


Fluoxetine

A racemate comprising equimolar amounts of (R)- and (S)-fluoxetine. A selective serotonin reuptake inhibitor (SSRI), it is used (generally as the hydrochloride salt) for the treatment of depression (and the depressive phase of bipolar disorder), bullimia nervosa, and obsessive-compulsive disorder.


Phenylephrine

A member of the class of the class of phenylethanolamines that is (1R)-2-(methylamino)-1-phenylethan-1-ol carrying an additional hydroxy substituent at position 3 on the phenyl ring.