Becker muscular dystrophy

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

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

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


Dmd

A dystrophin that is encoded in the genome of mouse.


DNA Sequence

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

The sequence of nucleotide residues along a DNA chain.


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.


PRL

A prolactin that is encoded in the genome of chicken.


response to luteinizing hormone

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

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a luteinizing hormone stimulus.


hyperprolactinemia

Abnormally high level of prolactin in the blood.


Phenotypic abnormality

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

A phenotypic abnormality.


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


Fluorescence identification test

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


Gene Alterations

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


hereditary breast ovarian cancer syndrome

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


Woman

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


congenital hypothyroidism

A thyroid hormone deficiency present from birth.


Nisch

A nischarin that is encoded in the genome of mouse.


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

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


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.


VWF

A von Willebrand factor that is encoded in the genome of human.


Blood Platelets

An irregular, disc-shaped element in the blood that assists in blood clotting. Platelets are not blood cells, they are fragments of large bone marrow cells called megakaryocytes.


immunoglobulin heavy constant mu

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


Parkinson disease

A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.


Bradykinesia

Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).


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.


hyperlipidemia

Elevated levels of lipids in the blood.


Kdr N1575Y

A sodium channel protein para sequence variant at position 1575 that has a Tyr residue at the position equivalent to Asn-1575 of the amino acid sequence represented by UniProtKB:Q94615-1.


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.


Selenon

A selenoprotein N that is encoded in the genome of mouse.


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.


sodium channel protein para sequence variant at position 989

A sodium channel protein para that has an amino acid residue that differs from the typically-observed Ser at the position equivalent to 989 of the amino acid sequence represented by UniProtKB:Q94615-1.


myocardial stunning

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


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.


Catalepsy

A nervous system disorder characterized by diminished responsiveness and consciousness, and rigidity of the body.


TGFBI

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


corneal granular dystrophy

A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.


Guanosine to Adenosine Transition Abnormality


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.


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.


solute carrier organic anion transporter family member 1B1

A solute carrier organic anion transporter family member that is a translation product of the human SLCO1B1 gene or a 1:1 ortholog thereof.


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


Interpersonal dynamics analysis

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


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.


congenital disorder of glycosylation, type ICC


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.


2q31.1 microdeletion syndrome

2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.


Father (person)

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


16q24.1 microdeletion syndrome

16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).


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.


primary cutaneous diffuse large B-cell lymphoma, Leg type

An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.


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


presenilin-2 sequence variant S130L (human)

A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Ser-130 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ser-130, CHEBI:30006.


hypertensive disorder

Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.


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.


hypertrophy of morphologic left ventricle


A transcription factor ETV6 that is encoded in the genome of human.


Neu-Laxova syndrome

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.


transcription factor ETV6

A protein that is a translation product of the human ETV6 gene or a 1:1 ortholog thereof.


neural nucleus

A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO).


Cytoplasm

That portion of the cell contained within the plasma membrane but excluding the nucleus.


ETS translocation variant 5

A protein that is a translation product of the human ETV5 gene or a 1:1 ortholog thereof.


Cognitive functions

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


cholinesterase activity

Catalysis of the reaction: an acylcholine + H2O = choline + a carboxylic acid anion.


amnestic disorder

Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.


cognitive disorder

A disease affects cognitive processes.


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


Fev

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


Retinopathy of prematurity stage 0

Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or immature. In Stage 0, there is no clear demarcation line between vascularized and non-vascularized retina.


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


juvenile dermatopolymyositis with organ involvement


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


opsin transport

The directed movement of an opsin (a G protein-coupled receptor of photoreceptor cells) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore.


cone dystrophy

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


Open Reading Frame

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


A T-box transcription factor TBX1 that is encoded in the genome of human.


Tietz syndrome

Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.


Phenotypic variability

A variability of phenotypic features.


Haplotypes

biolink:OrganismAttribute biolink:Attribute biolink:NamedThing biolink:OntologyClass


autosomal dominant genetic susceptibility


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


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.


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


Tgfa

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


lung cancer

A malignant neoplasm involving the lung.


amyloid-beta precursor protein sequence variant V715M (human)

An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Val-715 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-715, CHEBI:16044.


non-alcoholic steatohepatitis

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


Body Mass Index Finding

The result of a body mass index measurement.


TNMD

A tenomodulin that is encoded in the genome of human.


Increased adipose tissue

An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).


diabetes mellitus

A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.


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


inactivation of X chromosome by genomic imprinting

Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex by genomic imprinting.


chromosome X;autosome translocation syndrome


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 mouse.


rheumatoid arthritis

A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.


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


autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.


Depletion of mitochondrial DNA

A genetically heterogenous group of disorders characterized by low mitochondrial DNA in specific tissues resulting in impaired energy production.


DNA polymerase subunit gamma-1

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


exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 3'-phosphomonoesters

Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end to yield 3' phosphomonoesters.


proteinuria

The presence of abnormal amounts of protein in the urine.


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.


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.


Green Tea Extract-based Antioxidant Supplement


polycystic ovaries-urethral sphincter dysfunction syndrome

Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.


17alpha-hydroxy steroid

The alpha-stereoisomer of 17-hydroxy steroid.


Chromosomes, Human, Pair 3

The designation for each member of the third largest human autosomal chromosome pair. Chromosome 3 spans almost 200 million base pairs and represents about 6.5% of the total DNA in normal diploid cells.


monosomy

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


Aunip

An aurora kinase A and ninein-interacting protein that is encoded in the genome of mouse.


HTT

A huntingtin that is encoded in the genome of human.


A transmembrane protease serine 6 that is encoded in the genome of mouse.


BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F486S


trypsinogen activation

The proteolytic processing of trypsinogen to the active form, trypsin.


Tenofovir disoproxil

An organic phosphonate that is the disoproxil ester of tenofovir. A prodrug for tenofovir, an HIV-1 reverse transcriptase inhibitor, tenofovir disoproxil is used as the fumaric acid salt 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.


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.


Hepatic encephalopathy in fulminant hepatic failure


intracranial hypertension

A finding characterized by increased cerebrospinal fluid pressure within the skull.


nuclear factor 1 B-type

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


Prostate Undifferentiated Carcinoma

An invasive prostate carcinoma characterized by the presence of undifferentiated malignant cells.


bone morphogenetic protein 2

A bone morphogenetic protein that is a translation product of the human BMP2 gene or a 1:1 ortholog thereof.


BMP receptor-regulated smad protein

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


FGFR3 gene G380R amino acid substitutions


prostate cancer/brain cancer susceptibility


prostate cancer

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


calcium ion homeostasis

Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell.


skeletal muscle fiber development

The process whose specific outcome is the progression of the skeletal muscle fiber over time, from its formation to the mature structure. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast.


nephrosis

Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.


Non-radioactive contrast imaging material, not otherwise classified, per study


cervical intraepithelial neoplasia

Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


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.


Psychotic symptom rating scales total score


Extrapyramidal Disorder, CTCAE

A disorder characterized by abnormal, repetitive, involuntary muscle movements, frenzied speech and extreme restlessness.


T-cell leukemia

A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.


hereditary motor and sensory neuropathy

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


neutrophil

Granular leukocytes having a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.


patient receiving potent antiretroviral therapy for six months or longer


Drug resistance to antiretroviral therapy


Alzheimer disease

A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.


central core myopathy

An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.


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


intellectual disability

A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.


protein

A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome.


A protein patched homolog 1 that is encoded in the genome of mouse.


Mthfr

A methylenetetrahydrofolate reductase (NADPH) that is encoded in the genome of mouse.


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.


inability to conceive due to male infertility


tat Gene Products, Human Immunodeficiency Virus


An indoleamine 2,3-dioxygenase 1 that is encoded in the genome of human.


lipopolysaccharide-induced tumor necrosis factor-alpha factor

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


Mood disorder due to known physiological condition with depressive features


Down syndrome

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.


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


A secreted Ly-6/uPAR-related protein 1 that is encoded in the genome of human.


Non-synonymous STAT Family Gene Mutation


systemic lupus erythematosus

An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.


Neurological Signs and Symptoms

A term that refers to the clinical manifestations resulting from pathologic processes that affect the central and peripheral nervous system.


Cardiotoxicity

Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue.


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.


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.


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


Parkinsonism with favorable response to dopaminergic medication

Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.


Dyskinesia

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


Visual hallucination

Visual perception in the absence of a visual stimulus.


diazine

The parent structure of the diazines.


MAP kinase activity

Catalysis of the reaction: protein + ATP = protein phosphate + ADP. This reaction is the phosphorylation of proteins. Mitogen-activated protein kinase; a family of protein kinases that perform a crucial step in relaying signals from the plasma membrane to the nucleus. They are activated by a wide range of proliferation- or differentiation-inducing signals; activation is strong with agonists such as polypeptide growth factors and tumor-promoting phorbol esters, but weak (in most cell backgrounds) by stress stimuli.


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.


Akinesia

Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.


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 discoidin domain-containing receptor 1 that is encoded in the genome of human.


tyrosine-protein kinase ABL2

A protein that is a translation product of the human ABL2 gene or a 1:1 ortholog thereof.


NTRK1 Overexpression Positive

An indication that overexpression of NTRK1 has been detected in a sample.


calbindin

A protein that is a translation product of the human CALB1 gene or a 1:1 ortholog thereof.


Abnormality of mitochondrial metabolism

A functional anomaly of mitochondria.


Betaine

The amino acid betaine derived from glycine.


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


protein bax

A protein that is a translation product of the Escherichia coli K-12 bax gene or a 1:1 ortholog thereof.


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.


vasoactive intestinal polypeptide receptor 2

A VIP and PACAP receptor that is a translation product of the human VIPR2 gene or a 1:1 ortholog thereof.


LDHA

An L-lactate dehydrogenase A chain that is encoded in the genome of human.


PC-3 cell line

An adenocarcinoma cell line established in 1979 from a bone metastasis from a 62 year old Caucasian male patient with stage IV prostate carcinoma.


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 mouse.


ERBB2-ERBB3 signaling pathway

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

The series of molecular signals initiated by binding of a ligand to a ERBB3 receptor on the surface of a cell, followed by transmission of the signal by a heterodimeric complex of ERBB2 and ERBB3. ERBB2, which does not bind any known ligand, is activated through formation of a heterodimer with another ligand-activated ERBB family member such as ERBB3. ERBB3 also has impaired kinase activity and relies on ERBB2 for activation and signal transmission.


epidermis morphogenesis

The process in which the anatomical structures of the epidermis are generated and organized. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.


Rete ridge flattening

Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


LLGL scribble cell polarity complex component 2

A protein that is a translation product of the human LLGL2 gene or a 1:1 ortholog thereof.


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


hematopoietic stem cell

A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119.


Megakaryocytic leukaemia without mention of remission


angiogenesis

Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.


D-glucose

A glucose with D-configuration.


Lactic Acid

A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.


TOR signaling

The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors.


Symbiosis

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


A heat shock protein HSP 90-beta that is encoded in the genome of human.


Injury of kidney

Trauma to the kidney.


Protein Interaction Domain Inhibitor Therapy


11-beta-hydroxysteroid dehydrogenase 1

A protein that is a translation product of the human HSD11B1 gene or a 1:1 ortholog thereof.


Portal inflammation

Infiltration of portal fields by inflammatory cells.


podocyte

A specialized kidney epithelial cell, contained within a glomerulus, that contains "feet" that interdigitate with the "feet" of other podocytes.


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).


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


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


respiratory basal cell

A basal cell in the respiratory tract.


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.


DNA helicase MCM8

A protein that is a translation product of the human MCM8 gene or a 1:1 ortholog thereof.


A G1/S-specific cyclin-D1 that is encoded in the genome of human.


CRD domain binding

Binding to a CRD (context dependent regulatory) domain, a domain of about 130 residues that is the most divergent region among the LEF/TCF proteins.


tubulin alpha-1A chain

A tubulin that is a translation product of the human TUBA1A gene or a 1:1 ortholog thereof.


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)


A protein that is a translation product of the Tuba1a gene in mouse.


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.


glial cell

A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons.


neuron migration

The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.


tubulin alpha-8 chain

A tubulin that is a translation product of the human TUBA8 gene or a 1:1 ortholog thereof.


activation of hypoxia-inducible factor-1alpha signaling pathway


hypoxia-inducible factor 1-alpha

A protein that is a translation product of the human HIF1A gene or a 1:1 ortholog thereof.


Increased Apoptosis

Increase in the amount of apoptosis.


programmed cell death

A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell.


negative regulation of hypoxia-inducible factor-1alpha signaling pathway

Any process that stops, prevents or reduces the frequency, rate or extent of hypoxia-inducible factor-1alpha signaling pathway.


Arsa

An arylsulfatase A that is encoded in the genome of mouse.


metachromatic leukodystrophy, adult form


arylsulfatase activity

Catalysis of the reaction: a phenol sulfate + H2O = a phenol + sulfate.


atypical pervasive developmental disorder with residual state


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.


Phenylalaninuria

Increased level of phenylalanine in urine.


SFPQ

A splicing factor, proline- and glutamine-rich that is encoded in the genome of human.


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.


hypotensive disorder

Blood pressure that is abnormally low.


Methyldopa, centrally acting adntiadrenergic agents


Corticosteroid and/or corticosteroid derivative therapy


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.


Catalysis of the reaction: a very-long-chain 2,3-saturated fatty acyl-CoA + H+ + oxidized [electron-transfer flavoprotein] = a very-long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein]. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22.


CoA + hexadecanal + NAD(+) = H(+) + hexadecanoyl-CoA + NADH


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


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


T2M1_MORSP Type II restriction enzyme MspI (sprot)

A DNA restriction-modification endonuclease that is a translation product of the mspIR gene in Moraxella sp.


psychiatric disorder

A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.


ataxia telangiectasia

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.


Atm

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


low grade histological differentiation, well to moderately differentiated


Transcript Variant Negative

An indication that variant transcripts were not detected in a sample.


Nefopam

A racemate comprising equal amounts of (R)- and (S)-nefopam. The  hydrochloride is a centrally acting non-opiate analgesic commonly used for the treatment of moderate to severe pain.


DMPK

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


monoatomic ion homeostasis

Any process involved in the maintenance of an internal steady state of monoatomic ions within an organism or cell. Monatomic ions (also called simple ions) are ions consisting of exactly one atom.


voltage-gated calcium channel protein

A voltage-gated ion channel protein that has voltage-gated calcium channel activity. A voltage-gated calcium channel enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


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


Chromosomes, Human, Pair 1

The designation for each member of the largest human autosomal chromosome pair. Chromosome 1 spans about 247 million nucleotide base pairs and represents about 8% of the total DNA in normal diploid cells.


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


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


Chromosomes, Human, Pair 5

The designation for each member of the fifth largest human autosomal chromosome pair. Chromosome 5 spans about 181 million base pairs and represents almost 6% of the total DNA in normal diploid cells.


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.


Meperidine

A piperidinecarboxylate ester that is piperidine which is substituted by a methyl group at position 1 and by phenyl and ethoxycarbonyl groups at position 4. It is an analgesic which is used for the treatment of moderate to severe pain, including postoperative pain and labour pain.


Increased Central Nervous System Organized Electrical Activity


Lamotrigine

A member of the class of 1,2,4-triazines in which the triazene skeleton is substituted by amino groups at positions 3 and 5, and by a 2,3-dichlorophenyl group at position 6.


A hepatocyte nuclear factor 6 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.


tumor rejection antigen P815A

A protein that is a translation product of the mouse Trap1a gene or a 1:1 ortholog thereof.


response to insulin

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.


C-type lectin domain family 4 member M

A protein that is a translation product of the human CLEC4M gene or a 1:1 ortholog thereof.


A C-type lectin domain family 4 member K that is encoded in the genome of human.


antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent

The process in which an antigen-presenting cell expresses a peptide antigen of exogenous origin on its cell surface in association with an MHC class I protein complex following intracellular transport via a TAP (transporter associated with antigen processing) pathway. The peptide is typically a fragment of a larger exogenous protein which has been degraded within the cell and is dependent on TAP transport from the cytosol to ER for association with the MHC class I molecule. Class I here refers to classical class I molecules.


aporphine alkaloid

Any benzylisoquinoline alkaloid that has a structure based on 4H-dibenzo[de,g]quinoline or its 3-methyl derivative.


Injection of alcohol into sympathetic nerve


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


MCF-7 Cells

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


end stage renal failure

Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.


creatinine

A lactam obtained by formal cyclocondensation of creatine. It is a metabolite of creatine.


chronic renal failure syndrome

Impairment of the renal function due to chronic kidney damage.


Patient receiving peritoneal dialysis (ESRD)


amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.


Alsing syndrome

An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.


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


HNSHA due to decreased adenosine deaminase activity


serine/threonine-protein kinase ULK1

A protein that is a translation product of the human ULK1 gene or a 1:1 ortholog thereof.


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.


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)


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


Biallelic Mutation Positive

An indication that a mutation has been detected in both alleles of a single gene.


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.


Mutation Rate

The frequency of mutations in a sample.


Lysosomal alpha-1,4-glucosidase deficiency - juvenile onset


factor V deficiency

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


A coagulation factor V that is encoded in the genome of mouse.


urinary bladder cancer

A primary or metastatic malignant neoplasm involving the bladder.


velocardiofacial syndrome

A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.


Nucleoplasm

The nuclear contents other than the nucleolus.


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


camalexin binding

Binding to camalexin.


voltage-gated potassium channel KCNV2 sequence variant S256W (human)

A potassium voltage-gated channel subfamily V member 2 (human) that has a Trp residue at the position equivalent to Ser-256 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Ser-256, CHEBI:29954.


channel activity

Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules.


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.


presenilin-1 sequence variant I238M (human)

A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-238 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-238, CHEBI:16044.


Dansyllysine

An L-lysine derivative with a dansyl group at the N(6)-position.


A protein that is a translation product of the human EDN1 gene or a 1:1 ortholog thereof.


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


obesity disorder

A disorder involving an excessive amount of body fat.


myocardial infarction

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


thiol peroxidase

A protein that is a translation product of the Escherichia coli K-12 tpx gene or a 1:1 ortholog thereof.


Pathological Conditions, Signs and Symptoms


serum paraoxonase/arylesterase 1

A protein that is a translation product of the human PON1 gene or a 1:1 ortholog thereof.


coronary artery disorder

Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)


insect-type acetylcholinesterase sequence variant at position 119

An insect-type acetylcholinesterase that has an amino acid residue that differs from the typically-observed Gly at the position equivalent to 119 of the amino acid sequence represented by UniProtKB:P04058-1.


CD72 molecule

A protein that is a translation product of the human CD72 gene or a 1:1 ortholog thereof.


nephritis

Inflammation of renal tissue.


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


adenylosuccinate lyase isoform 1

An adenylosuccinate lyase that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P0AB89-1 or a 1:1 ortholog thereof.


DNER

A delta and Notch-like epidermal growth factor-related receptor that is encoded in the genome of human.


Dengue vaccine, quadrivalent, live, 3 dose schedule, for subcutaneous use


hepatitis C virus infection

A viral infection caused by the hepatitis C virus.


Sustained Virologic Response

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


long QT syndrome

A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.


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 mouse.


cardiovascular disorder

A disease involving the cardiovascular system.


breast cancer prognostic gene signature assay panel


acute glomerulonephritis with interstitial nephritis


Renal Function

Pertaining to the physiologic processes of the kidneys.


Azithromycin

A macrolide antibiotic useful for the treatment of bacterial infections.


Complete disruption of kidney parenchyma


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.


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


A protein S100-A14 that is encoded in the genome of mouse.


lymphosarcoma

An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.


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.


A protein that is a translation product of the YJR149W gene in yeast.


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).


positive regulation of NMDA glutamate receptor activity

Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity.


Finding of cerebrospinal fluid: globulin level


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-sensitive syndrome

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


hereditary hemochromatosis

An inherited metabolic disorder characterized by iron accumulation in the tissues.


Hfe

A hereditary hemochromatosis protein that is encoded in the genome of mouse.


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


Genetic susceptibility to multiple endocrine neoplasia [MEN]


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.


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


Finding

Clinical, laboratory or molecular evidence, or absence of evidence of disease.


Adrenal Mass

An abnormal growth in the adrenal gland.


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.


Hypertensive episode

An episode of elevated blood pressure.


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.


Urinary Tract Cancer TNM Finding v8

A finding about one or more characteristics of urinary tract cancer, following the rules of the TNM AJCC v8 classification system.


patient is age 65 or older female, considered high risk for future fall


stroke disorder

A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.


type 1 diabetes mellitus

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


Hemoglobin Beta Heterozygous Hemoglobin E Plus Insufficiency Genotype

A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B+) and the other copy has an HBB mutation that produces a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE). This genotype is associated with beta thalassemia intermedia.


Parecoxib

An N-acylsulfonamide resulting from the formal condensation of valdecoxib with propionic acid. It is a prodrug for valdecoxib.


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


A DNA mismatch repair protein Mlh1 that is encoded in the genome of mouse.


A solute carrier family 2, facilitated glucose transporter member 2 that is encoded in the genome of mouse.


A wolframin that is encoded in the genome of human.


Functional Assessment of Chronic Illness Therapy-Dyspnea Scale 33 Item Bank Questionnaire


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).


diabetes insipidus, nephrogenic, X-linked


PEMT

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


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.


Toxic nephropathy

Toxicity that impairs or damages the kidney. This condition is often caused by the administration of a pharmaceutical agent that causes damage to the kidney.


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


T-Cells and Natural Killer Cells Absent B-Cells Normal

A hematology test result indicating that a subject has a normal amount of B-cells but both T-cells and natural killer cells are either absent or found at abnormally low amounts.


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


tissue-type plasminogen activator proteolytic cleavage product

A tissue-type plasminogen activator that has been processed by proteolytic cleavage.


POLG

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


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.


Lysyl threonine

A dipeptide formed from L-lysine and L-threonine residues.


migraine disorder

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


Serotonin

A primary amino compound that is the 5-hydroxy derivative of tryptamine.


comparative DNA analysis using multiple selected SNPS


A DNA mismatch repair protein Msh2 that is encoded in the genome of mouse.


TGF-beta receptor type-1 sequence variant N267H (human)

A TGF-beta receptor type-1 (human) that has a His residue at the position equivalent to Asn-267 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asn-267, CHEBI:29979.


Patchy osteosclerosis

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


primary bone dysplasia with increased bone density


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.


A nitric oxide synthase, brain that is encoded in the genome of mouse.


primary angle-closure glaucoma

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


d(TCAACCGATTTCGGTTAC)

A single-stranded DNA oligonucleotide comprised of four deoxyadenosine, five deoxycytidine, six thymidine and three deoxyguanosine residues connected by 3'->5' phosphodiester linkages in the sequence T-C-A-A-C-C-G-A-T-T-T-C-G-G-T-T-A-C.


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.


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 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.


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


AChE1 F331W

An insect-type acetylcholinesterase sequence variant at position 331 that has a Trp residue at the position equivalent to Phe-331 of the amino acid sequence represented by UniProtKB:P04058-1.


A regulator of G-protein signaling 4 that is encoded in the genome of human.


schizophrenia 3

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


intrachromosomal DNA recombination

The process of DNA recombination occurring within a single chromosome.


Alu Element

A family of short interspersed nuclear elements found in the human genome that are substrates for the Arthrobacter luteus restriction endonuclease. Alu elements are highly conserved within primate genomes and have been used in the investigation of human population genetics, primate and human evolution, and human diseases, including cancer.


reciprocal meiotic recombination

The cell cycle process in which double strand breaks are formed and repaired through a single or double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity.


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

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

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


Phosphatase and Tensin Homolog Staining Method


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.


CFTR

A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of human.


respiratory airway

An airway through which respiratory air passes in organisms.


Ectodermal dysplasia and sensorineural deafness syndrome


desmosome

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

A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism.


A plakophilin-1 that is encoded in the genome of mouse.


Dextromethadone

A 6-(dimethylamino)-4,4-diphenylheptan-3-one that has (S)-configuration. It is the less active enantiomer of methadone and has very little activity on opioid receptors and mainly responsible for the inhibition of hERG K+ channels and thus for cardiac toxicity. The drug is currently under clinical development for the treatment of major depressive disorder.


Nitroarginine

An L-arginine derivative that is L-arginine in which the terminal nitrogen of the guanidyl group is replaced by a nitro group.


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.


A hepatocyte nuclear factor 4-alpha that is encoded in the genome of mouse.


A hepatocyte nuclear factor 4-alpha that is encoded in the genome of human.


Mitochondrial 1555 A to G mutation positive


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


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.


Porphyria-like reaction to poison and/or environmental toxin


A D(2) dopamine receptor that is encoded in the genome of human.


gastric adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the stomach


LI-FRAUMENI SYNDROME 1, 1-BP INS, 151C (allelic variant)


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


SEIZURES AND LACTIC ACIDOSIS, 2-BP DEL, 9205TA (MTATP6)


This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.


Bcor

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


microphthalmia, Lenz type

A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.


epithelial cell of proximal tubule

An epithelial cell of the proximal tubule of the kidney.


thiol

An organosulfur compound in which a thiol group, -SH, is attached to a carbon atom of any aliphatic or aromatic moiety.


cerebral cavernous malformation

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


aldosterone-producing adenoma with seizures and neurological abnormalities

An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.


Skin neoplasms malignant and unspecified (excl melanoma)


Cytosine to Thymidine Transition Abnormality


Skin lesion

A localized pathological or traumatic structural change, damage, deformity, or discontinuity of skin.


Infection

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


Valproic Acid

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


acute encephalopathy with biphasic seizures and late reduced diffusion

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.


meningococcal infection

Infections with bacteria of the species neisseria meningitidis.


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.


Weight Gain, CTCAE

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


Human Platelet Antigen 6 genotyping (HPA-6w), ITGB3 (integrin, beta 3 [platelet glycoprotein IIIa, antigen CD61] [GPIIIa]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant, HPA-6a/b (R489Q)


Eng

An endoglin that is encoded in the genome of mouse.


smad4 sequence variant E330G (human)

A mothers against decapentaplegic homolog 4 (human) that has a Gly residue at the position equivalent to Glu-330 of the amino acid sequence represented by UniProtKB:Q13485. UniProtKB:Q13485, Glu-330, CHEBI:29947.


transcription coactivator activity

A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.


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


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.


Testosterone propionate

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


dementia of Alzheimer's type with late onset without behavioral disturbance


purine-containing compound metabolic process

The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof.


neurodegenerative disease

A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.


cyclooxygenase 2 inhibitor

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


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.


mixture

A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind.


cerebral degeneration

A neurodegenerative disease that involves the telencephalon.


macrocephaly-autism syndrome

An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.


Developmental delay

Failure to meet, or late achievement of developmental milestones.


A synaptotagmin-14 that is encoded in the genome of mouse.


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.


electrocardiogram: corrected QTc interval


bone morphogenetic protein 4

A bone morphogenetic protein that is a translation product of the human BMP4 gene or a 1:1 ortholog thereof.


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


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).


pericardial fluid immunoelectrophoresis IgG index


van der Woude syndrome

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.


EXXXY peptide residues(1-)

-L-Glu-L-Xxx-L-Xxx-L-Xxx-L-Tyr-


Crohn disease

A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.


PRAME Positive

An indication that PRAME expression has been detected in a sample.


BCHE, K VARIANT, ALA539THR (allelic variant)


A superoxide dismutase [Mn], mitochondrial that is encoded in the genome of mouse.


urolithiasis

Stone(s) within the urinary tract.


group

A defined linked collection of atoms or a single atom within a molecular entity.


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


normal breast-like subtype of breast carcinoma

A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.


genotyping for lamivudine susceptibility


cholestane ester

Any steroid ester based on a cholestane skeleton.


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


anodontia

Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.


focal facial dermal dysplasia

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


PORCN

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


Wnt signaling pathway

The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.


mismatch repair

A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination.


acute therapy-related myelogenous leukemia


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 mouse.


Bupivacaine

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


Pain

An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.


A prostaglandin G/H synthase 2 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.


BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1187A>C Mutation


synaptic receptor adaptor activity

The binding activity of a molecule that provides a physical support bridging a synaptic signaling receptor and a downstream signaling molecule.


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.


lissencephaly type 3-familial fetal akinesia sequence syndrome

Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.


RNASEL

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


Fshb

A follitropin subunit beta that is encoded in the genome of mouse.


LHB

A lutropin subunit beta that is encoded in the genome of human.


map kinase p38

A protein that is a serine/threonine-specific protein kinase that responds to extracellular stimuli (environmental stress, pro-inflammatory cytokines and lipopolysaccharide) and regulates cellular activities such as gene expression, mitosis, differentiation, and cell survival/apoptosis. The activated form phosphorylates target substrates on Ser or Thr residues followed by a proline. A distinguishing feature is the conserved sequence TxY.


FH

A fumarate hydratase, mitochondrial that is encoded in the genome of human.


linear skin defects with multiple congenital anomalies

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


fumaric aciduria

Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


A visual system homeobox 2 that is encoded in the genome of human.


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.


sodium channel protein para sequence variant at position 1575

A sodium channel protein para that has an amino acid residue that differs from the typically-observed Asn at the position equivalent to 1575 of the amino acid sequence represented by UniProtKB:Q94615-1.


intervertebral disk degenerative disorder

Any disease of a degenerative nature that affects the intervertebral disk.


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.


aspartate family amino acid

An L-alpha-amino acid which is L-aspartic acid or any of the essential amino acids biosynthesised from it (asparagine, lysine, methionine, threonine and isoleucine). A closed class.


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.


anthracycline

Anthracyclines are polyketides that have a tetrahydronaphthacenedione ring structure attached by a glycosidic linkage to the amino sugar daunosamine.


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.


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.


brachial plexus neuritis

An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.


Toxicariasis of the central nervous system


impaired renal function disease

Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.


Renal Tubule Damage

Damage to the renal tubules.


CPTAC Bladder Urothelial Carcinoma Baseline Form


SP4_MOUSE Transcription factor Sp4 (sprot)

A transcription factor Sp4 that is encoded in the genome of mouse.


urinary bladder neoplasm

A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003


Evoked-potential graphic recording system


Penicillin G

Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6.


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.


receptor signaling pathway via JAK-STAT

Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins.


nonautoimmune hyperthyroidism without thyrotoxic crisis or storm