Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


hypoalphalipoproteinemia

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

A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.


Hypocholesterolemia

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

An decreased concentration of cholesterol in the blood.


hypobetalipoproteinemia

A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.


epidermal retinol dehydrogenase 2

A protein that is a translation product of the human SDR16C5 gene or a 1:1 ortholog thereof.


epidermal retinol dehydrogenase 2 isoform 1 (human)

An epidermal retinol dehydrogenase 2 isoform 1 that is encoded in the genome of human.


epidermal retinol dehydrogenase 2 isoform h2 (human)

An epidermal retinol dehydrogenase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N3Y7-2.


ATP-dependent RNA helicase DHX30 isoform 1 (human)

An ATP-dependent RNA helicase DHX30 isoform 1 that is encoded in the genome of human.


DNA polymerase lambda

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


DNA polymerase lambda isoform h1 (human)

A DNA polymerase lambda (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGP5-1.


DNA polymerase lambda isoform h2 (human)

A DNA polymerase lambda (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGP5-2.


transmembrane protease serine 6 isoform h3 (human)

A transmembrane protease serine 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IU80-2.


GTPase KRas isoform 2A (human)

A GTPase KRas isoform 1 that is encoded in the genome of human.


GTPase KRas isoform 2B (human)

A GTPase KRas isoform 2 that is encoded in the genome of human.


Ras and Rab interactor 1

A protein that is a translation product of the human RIN1 gene or a 1:1 ortholog thereof.


Ras and Rab interactor 1 isoform hRIN1 (human)

A Ras and Rab interactor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13671-1.


Ras and Rab interactor 1 isoform hRIN1-delta (human)

A Ras and Rab interactor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13671-2.


Adrenal hypoplasia

Developmental hypoplasia of the adrenal glands.


serine/threonine-protein kinase PAK 3 isoform 2 (human)

A serine/threonine-protein kinase PAK 3 isoform 2 that is encoded in the genome of human.


inherited retinal dystrophy

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.


optic atrophy

A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.


entropion

The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)


lens disorder

A disease involving the lens of camera-type eye.


retinal disorder

Any disease or disorder of the retina.


Leber hereditary optic neuropathy

Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.


retinal degeneration

Degeneration of the retina.


progressive external ophthalmoplegia

A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)


optic choroid disorder

A disease involving the optic choroid.


retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.


eye disorder

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.


sodium/potassium/calcium exchanger 5, signal peptide removed form (human)

A sodium/potassium/calcium exchanger 5 (human) that has had the signal peptide removed. UniProtKB:Q71RS6, 30-500.


Rho GTPase-activating protein 32 isoform h3 (human)

A Rho GTPase-activating protein 32 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A7KAX9-3.


procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h2 (human)

A procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q02809-2.


ferritin light chain, initiator methionine removed form (human)

A ferritin light chain (human) that has had the initiator methionine removed. UniProtKB:P02792, 2-175.


FAD-linked sulfhydryl oxidase ALR isoform h2 (human)

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


Rho guanine nucleotide exchange factor 26 isoform h3 (human)

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


Rho guanine nucleotide exchange factor 26 isoform h1 (human)

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


Rho guanine nucleotide exchange factor 26 isoform h2 (human)

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


diacylglycerol lipase-alpha

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


dolichol-phosphate mannosyltransferase subunit 3

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


dolichol-phosphate mannosyltransferase subunit 3 isoform h2 (human)

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


dolichol-phosphate mannosyltransferase subunit 3 isoform h1 (human)

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


spinal cord disorder

A disease involving the spinal cord.


Abnormality of immune system physiology

A functional abnormality of the immune system.


Abnormal urinary electrolyte concentration

An abnormality in the concentration of electrolytes in the urine.


atopic eczema

A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.


Lacunar stroke

A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.


Abnormal mast cell morphology

Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.


Fetal anomaly

Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.


dermatitis

An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.


Moderate generalized osteoporosis

Moderate osteoporosis.


Organic aciduria

Excretion of non-amino organic acids in urine.


Abnormal urine phosphate concentration

An abnormal phosphate concentration in the urine.


Abnormality of the vasculature

An abnormality of the vasculature.


Abnormal circulating cholesterol concentration

Any deviation from the normal concentration of cholesterol in the blood circulation.


Abnormality of adrenal morphology

Any structural anomaly of the adrenal glands.


Generalized abnormality of skin

An abnormality of the skin that is not localized to any one particular region.


Abnormal circulating enzyme concentration or activity

Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


Abnormal cellular immune system morphology

An abnormality of the morphology or counts of the cells that make up the immune system.


hypogonadotropic hypogonadism

Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.


brain aneurysm

A congenital or acquired aneurysm within the cranium.


Abnormal bone structure

Any anomaly in the composite material or the layered arrangement of the bony skeleton.


Dyssynergia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.


adrenal gland disorder

A disease involving the adrenal gland.


Abnormal fetal cardiovascular physiology

Abnormal functionality of the fetal cardiovascular system.


bone Paget disease

A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.


Abnormality of the biliary system

An abnormality of the biliary system.


Abnormality of the immune system

An abnormality of the immune system.


Neoplasm of the anterior pituitary

A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


Increased urinary non-proteinogenic amino acid level

An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Impaired glucose tolerance

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


Alkalosis

Depletion of acid or accumulation base in the body fluids.


acidosis disorder

An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.


cutis laxa

Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.


Abnormal circulating sarcosine concentration

An deviation from the normal concentration of sarcosine in the blood circulation.


proximal renal tubular acidosis

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


Abnormal cell morphology

Any anomaly of cell structure.


trimethylaminuria

A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


male reproductive system neoplasm

A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


Abnormality of the genital system

An abnormality of the genital system.


Abnormal circulating glutamine family amino acid concentration

Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.


pituitary gland disorder

A disease involving the pituitary gland.


cardiovascular disorder

A disease involving the cardiovascular system.


Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system.


Hyperphosphaturia

An increased excretion of phosphates in the urine.


Abnormal enzyme concentration or activity

Concentration or activity of an enzyme is above or below the limits of normal.


Abnormal urinary non-proteinogenic amino acid level

Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Abnormality of mitochondrial metabolism

A functional anomaly of mitochondria.


46,XX disorder of sex development

Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.


Abnormal circulating carbohydrate concentration

A deviation from the normal concentration of a carbohydrate in the blood circulation.


Abnormal circulating nitrogen compound concentration

Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


periodontitis

An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.


Hyperglycinemia

An elevated concentration of glycine in the blood.


middle cerebral artery infarction

Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.


APUdoma

An endocrine tumor arising from an APUD cell.


lipodystrophy

A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.


Abnormality of higher mental function

Cognitive, psychiatric or memory anomaly.


Microprolactinoma

A pituitary prolactin cell adenoma of less than 10 mm diameter.


myopathy

A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.


Bartter syndrome

Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


Abnormal inflammatory response

Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


hematopoietic and lymphoid system neoplasm

Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003


ovarian gonadoblastoma

A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


Decreased body mass index

Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.


maligant granulosa cell tumor of ovary

An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


muscular dystrophy

Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.


agranulocytosis

A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.


osteochondrodysplasia

A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


Increased sulfur amino acid level in urine

An elevated level of a sulfur-containing amino acid in the urine.


citrullinemia

Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).


Abnormal thyroid morphology

A structural abnormality of the thyroid gland.


calcinosis

Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.


renal tubular acidosis

A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.


endocrine system disorder

A disease involving the endocrine system.


Increased urine proteinogenic amino acid derivative level

An elevated urine level of a compound that is derived from an amino acid.


hyperaldosteronism

Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.


Abnormal circulating non-proteinogenic amino acid concentration

Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


severe combined immunodeficiency

Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.


leukodystrophy

Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


Abnormal circulating ornithine concentration

Deviation from the normal concentration of ornithine in the blood circulation.


inborn mitochondrial myopathy

Myopathy caused by mitochondrial abnormalities.


Abnormality of the mitochondrion

An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.


central nervous system malformation

An abnormality of the nervous system.


congenital generalized lipodystrophy

An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.


central nervous system infectious disorder

An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


palsy

A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)


Abnormal uterine cervix morphology

An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


peripheral neuropathy

A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


Aplasia/Hypoplasia of the thyroid gland

Absence or underdevelopment of the thyroid gland.


inherited glutathione synthetase deficiency

Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


brain neoplasm

A neoplasm (disease) that involves the brain.


bone neoplasm

A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


xanthinuria

A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Abnormal CNS myelination

An abnormality of myelination of nerves in the central nervous system.


Abnormal nervous system morphology

A structural anomaly of the nervous system.


Abnormal circulating amino acid concentration

The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.


Abnormal morphology of female internal genitalia

An abnormality of the female internal genitalia.


Elevated urinary carboxylic acid

An increased amount of carboxylic acid in the urine.


ovarian cyst

A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods.


peripheral nervous system neoplasm

A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


Pontine ischemic lacunes

Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


parkinsonian disorder

A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.


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.


neurodegenerative disease

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


hyperprolinemia

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


Weight loss

Reduction of total body weight.


ectodermal dysplasia syndrome

The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.


familial hemolytic anemia

A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.


movement disorder

Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.


Abnormality of lipoprotein cholesterol concentration

An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.


Kaposi's sarcoma

A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).


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.


Slender build

Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.


Abnormal central motor function

An anomaly of the control or production of movement in the central nervous system.


Abnormality of skin physiology

Any abnormality of the physiological function of the skin.


adrenogenital syndrome

Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


dystonic disorder

A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.


Abnormality of amino acid metabolism

Abnormality of an amino acid metabolic process.


depressive disorder

A melancholy feeling of sadness and despair.


Abnormal male internal genitalia morphology

An abnormality of the male internal genitalia.


Abnormal cellular phenotype

An anomaly of cellular morphology or physiology.


bipolar disorder

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


craniosynostosis

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.


Abnormal bone ossification

Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.


Abnormality of vitamin metabolism

An anomaly in the metabolism of a vitamin.


leukopenia

A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.


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.


cranial nerve palsy

Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.


Impairment of fructose metabolism

An impairment of a fructose metabolic process.


Abnormal uterus morphology

Any anomaly of the structure of the uterus


vascular disorder

A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.


hemiplegia

Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.


Abnormal urine metabolite level

Any deviation from the normal amount of a metabolite in urine.


classic phenylketonuria

Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.


Abnormal circulating proteinogenic amino acid derivative concentration

Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.


Ischemic stroke

Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.


Abnormal circulating pyruvate family amino acid concentration

An abnormality of a pyruvate family amino acid metabolic process.


respiratory tract neoplasm

A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.


head and neck neoplasm

A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


hyperlipoproteinemia

An elevated concentration of lipoproteins.


Abnormality of the musculoskeletal system

An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


Abnormal circulating proteinogenic amino acid concentration

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


Abnormality of the integument

An abnormality of the integument, which consists of the skin and the superficial fascia.


Abnormality of urine homeostasis

An abnormality of the composition of urine or the levels of its components.


Abnormal circulating dicarboxylic acid concentration

Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.


cerebellar ataxia

A neurological syndrome characterised by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.


Abnormality of the peripheral nervous system

Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


uterine anomalies

An abnormality of the uterus.


Cervical neoplasm

A tumor (abnormal growth of tissue) of the uterine cervix.


Anterior hypopituitarism

A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


homocystinuria

An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.


ichthyosis

Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.


renal tubule disorder

A disease that involves the renal tubule.


Late onset atopic dermatitis

A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


digestive system neoplasm

A neoplasm (disease) that involves the digestive system.


frontotemporal dementia

Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.


Abnormal cerebral morphology

Any structural abnormality of the telencephalon, which is also known as the cerebrum.


lissencephaly spectrum disorders

The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.


Failure to thrive secondary to recurrent infections

Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.


tumor of uterus

A neoplasm (disease) that involves the uterus.


Abnormal circulating metabolite concentration

An abnormal level of an analyte measured in the blood.


thyroid gland disorder

A disease involving the thyroid gland.


Abnormal nervous system physiology

A functional anomaly of the nervous system.


primary ovarian failure

Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.


hyperekplexia

A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia


Insulin-dependent but ketosis-resistant diabetes

Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.


osteochondrosis

A condition that is characterized by defective bone growth that affects the growth centers of bone.


Abnormal circulating proline concentration

Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.


normocytic anemia

Anemia in which the red blood cell volume is normal.


Abnormality of the pituitary gland

An anomaly of the pituitary gland.


allergic disease

An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.


lysosomal storage disease with skeletal involvement


Abnormality of brain morphology

A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.


urticaria

A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.


Abnormal circulating alanine concentration

An abnormality of an alanine metabolic process.


Abnormality of skin morphology

Any morphological abnormality of the skin.


renal aminoaciduria

A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.


Decreased circulating cortisol level

Abnormally reduced concentration of cortisol in the blood.


ovarian neoplasm

A benign, borderline, or malignant neoplasm involving the ovary.


Aciduria

Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


disorder of methionine catabolism

An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.


cardiomyopathy

A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.


Abnormal cellular physiology

An abnormality in a cellular process.


ovarian disorder

A disease involving the ovary.


skeletal muscle disorder

A disease involving the skeletal muscle tissue.


autism spectrum disorder

A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.


Marchiafava-Bignami disease

Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.


Abnormal joint morphology

An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.


megaloblastic anemia

Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.


macrocytic anemia

Anemia that is characterized by increased red blood cell volume.


Abnormal leukocyte morphology

An abnormality of leukocytes.


distal renal tubular acidosis

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


immunodeficiency disease

Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.


nervous system cancer

A primary or metastatic malignant neoplasm involving the nervous system.


Abnormal circulating branched chain amino acid concentration

Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.


Abnormal circulating lysine concentration

Any deviation from the normal concentration of lysine in the blood circulation.


skin disorder

Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.


pseudohypoaldosteronism

An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.


prostate neoplasm

A neoplasm (disease) that involves the prostate gland.


malignant endocrine neoplasm

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


Abnormality of digestive system morphology

A structural anomaly of the digestive system.


Abnormal CSF metabolite concentration

Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


narcolepsy

A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.


Hypercholesterolemia

An increased concentration of cholesterol in the blood.


Abnormality of prenatal development or birth

An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


Abnormal urine carboxylic acid level

Any deviation from the normal concentration of a carboxylic acid in the urine.


hypolipoproteinemia

Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).


Cachexia

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.


dementia

Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.


Osteoporotic tarsals

Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


primary aldosteronism

An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.


hyperlipidemia

Elevated levels of lipids in the blood.


galactosemia

Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.


generalized lipodystrophy

Almost complete absence of subcutaneous and/or visceral adipose tissue.


epilepsy

A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.


Azotemia

An increased concentration of nitrogen compounds in the blood.


Abnormality of the abdominal organs

An abnormality of the viscera of the abdomen.


xanthomatosis

A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


combined immunodeficiency

A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


Eunuchoid habitus

A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.


Abnormal circulating lipid concentration

Any deviation from the normal concentration of a lipid in the blood circulation.


hematologic disorder

A disease involving the hematopoietic system.


hypogonadism

A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.


Abnormal leukocyte count

Number of leukocytes per volume of blood beyond normal limits.


Neoplasm by anatomical site

Neoplasm categorized according to the anatomical site of origin of the neoplasm.


Abnormal skeletal morphology

An abnormality of the form, structure, or size of the skeletal system.


arthritic joint disease

An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.


Neoplasm of the genitourinary tract

A tumor (abnormal growth of tissue) of the genitourinary system.


methylmalonic acidemia

A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.


Abnormality of the male genitalia

Abnormality of the male genital system.


Abnormal LDL cholesterol concentration

Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.


Osteoporosis of vertebrae

Osteoporosis affecting predominantly the vertebrae.


Abnormal myeloid leukocyte morphology

An abnormality of myeloid leukocytes.


Abnormal circulating glycine concentration

Any deviation from the normal concentration of glycine in the blood circulation.


lymphoproliferative syndrome

A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).


osteonecrosis

A none disease characterized by death of bone tissue due to a lack of blood supply.


Abnormal myeloid cell morphology

Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


adrenocortical insufficiency

An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


glutaric aciduria

An increased concentration of glutaric acid in the urine.


progressive bulbar palsy

Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


sideroblastic anemia

A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.


Abnormal urine pH

A deviation of urine pH from the normal range of 4.5 to 7.8.


juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).


cerebellar degeneration

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


46,XY disorder of sex development

Differences of sex development in individuals with 46,XY karyotype.


neuroendocrine neoplasm

Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).


pituitary tumor

A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.


Glycopeptiduria

Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.


Macroprolactinoma

A pituitary prolactin cell adenoma of more than 10 mm diameter.


Abnormality of folate metabolism

An abnormality of the metabolism of folic acid, which is also known as vitamin B9.


Abnormal internal genitalia

An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


Small for gestational age

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


lymphoma

A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.


Abnormal cardiovascular system physiology

Abnormal functionality of the cardiovascular system.


Abnormality of bone mineral density

This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


neoplasm

A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.


primary hyperoxaluria

A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.


skin vascular disease

A disease that involves the superficial vasculature.


prostate cancer

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


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.


hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


basal ganglia disorder

A disease involving the basal ganglia.


lactic acidosis

Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.


mastocytosis

A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.


Abnormal circulating glycerol level

Any deviation from the normal concentration of glycerol in the blood.


psychotic disorder

An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.


B-cell neoplasm

A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.


histidinuria due to a renal tubular defect

An increased concentration of histidine in the urine.


Abnormal neuron morphology

A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Abnormal reproductive system morphology

A structural or developmental anomaly of any of the tissues involved in the genital system.


Abnormality of the skeletal system

An abnormality of the skeletal system.


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.


Acidemia

An abnormally low blood pH (usually defined as less than 7.35).


Abnormal forebrain morphology

An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Abnormality of the urinary system

An abnormality of the urinary system.


Abnormal cerebrospinal fluid morphology

An abnormality of the cerebrospinal fluid (CSF).


Failure to thrive

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


Abnormal biliary tract morphology

A structural abnormality of the biliary tree.


Abnormal circulating valine concentration

Any deviation from the normal circulation of valine in the blood circulation.


Phenotypic abnormality

A phenotypic abnormality.


hypoaldosteronism disease

Abnormally low levels of aldosterone in the blood.


female reproductive system neoplasm

A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


Severe generalized osteoporosis

Severe degree of osteoporosis.


Abnormal myelination

Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


hypopituitarism

A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.


arthropathy

Any disorder of the joints.


Abnormal circulating aspartate family amino acid concentration

Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


Abnormal circulating carboxylic acid concentration

Any deviation from the normal concentration of a carboxylic acid in the blood circulation.


Abnormal homeostasis

An anomaly in the processes involved in the maintenance of an internal equilibrium.


Abnormality of the urinary system physiology


Abnormal circulating histidine concentration

An abnormality of a histidine metabolic process.


intracranial hypertension

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


Abnormal fetal physiology

Any functional anomaly of the fetus.


hyperostosis

Excessive thickening of bone.


obesity disorder

A disorder involving an excessive amount of body fat.


Abnormal endocrine morphology

Any anomaly of the structure of an organ ofthe endocrine system.


Osteoporotic metatarsal

Decrease in mass and density of the metatarsal bones.


Abnormal metabolism

An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


disorder of sexual differentiation

A congenital disorder characterized by abnormalities in the development of the sexual characteristics.


telangiectasia macularis eruptiva perstans


Increased inflammatory response

A abnormal increase in the inflammatory response to injury or infection.


Abnormal circulating protein concentration

An abnormal level of a circulating protein in the blood.


Abnormality of the hypothalamus-pituitary axis

Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.


3-methylglutaconic aciduria

A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.


nutritional disorder

Any condition related to a disturbance between proper intake and utilization of nourishment.


vitamin B12 deficiency

A disease characterized by low serum levels of vitamin B12, either inherited or acquired.


skin neoplasm

A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.


paraplegia

Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.


brain disorder

A disease affecting the brain or part of the brain.


D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.


autoimmune disease

A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).


Abnormal granulocyte morphology

Any structural abnormality or abnormal count of granulocytes.


Abnormality of body weight

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


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.


Abnormal prostate morphology

An abnormality of the prostate.


central nervous system disorder

A disease involving the central nervous system.


Abnormal circulating serine family amino acid concentration

Any deviation from the normal concentration of a serine family amino acid in the blood circulation.


Abnormality of the diencephalon

An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


Reduced bone mineral density

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


motor neuron disorder

A disease involving the motor neuron.


peripheral nervous system disorder

A disease involving the peripheral nervous system.


Abnormality of acid-base homeostasis

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


dilated cardiomyopathy

Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.


Abnormal glucose homeostasis

Abnormality of glucose homeostasis.


hypertrophic cardiomyopathy

A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.


Abnormality of the female genitalia

Abnormality of the female genital system.


chondrodysplasia punctata

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


Increased proteinogenic amino acid level in urine

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


Abnormality of adrenal physiology

A functional abnormality of the adrenal glands.


Atypical behavior

An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities.


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

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


carboxylesterase 5A isoform h4 (human)

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


permanent congenital hypothyroidism

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


syndromic hypothyroidism

A hypothyroidism that is part of a larger syndrome.


ketotriose derivative

A triose derivative that is formally obtained from ketotriose.


1-alkylglycerone 3-phosphate

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


1-acylglycerone 3-phosphate

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


argininosuccinate lyase, initiator methionine removed form (human)

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


2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, transit peptide removed form (human)

A 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P21953, 51-392.


metabotropic glutamate receptor 4

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


metabotropic glutamate receptor 4 isoform h4 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-4.


metabotropic glutamate receptor 4 isoform h1 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-1.


metabotropic glutamate receptor 4 isoform h2 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-2.


metabotropic glutamate receptor 4 isoform h3 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-3.


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

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


metabotropic glutamate receptor 4 isoform h5 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-5.


proton channel OTOP1

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


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

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


Childhood Ovarian Mixed Germ Cell Tumor

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


ovarian mixed germ cell neoplasm

An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.


adhesion G protein-coupled receptor L1

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


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

An adhesion G protein-coupled receptor L1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O94910-2.


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

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


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

An adhesion G protein-coupled receptor L1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O94910-1.


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

An Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9ULH1-2.


hexokinase-1 isoform 1 (human)

A hexokinase-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P19367-1.


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

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


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

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


perilipin-3 isoform h1 (human)

A perilipin-3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60664-1.


oxidized purine nucleoside triphosphate hydrolase

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


oxidized purine nucleoside triphosphate hydrolase isoform hp18 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-4.


oxidized purine nucleoside triphosphate hydrolase isoform hp21 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-3.


oxidized purine nucleoside triphosphate hydrolase isoform hp22 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-2.


oxidized purine nucleoside triphosphate hydrolase isoform hp26 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-1.


phosphatidylcholine transfer protein isoform h2 (human)

A phosphatidylcholine transfer protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UKL6-2.


phosphatidylcholine transfer protein

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


phosphatidylcholine transfer protein isoform 1 (human)

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


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

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


oxygen radical

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


leucine-rich repeat serine/threonine-protein kinase 1

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


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

A leucine-rich repeat serine/threonine-protein kinase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q38SD2-2.


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

A leucine-rich repeat serine/threonine-protein kinase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q38SD2-1.


ribokinase

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


ribokinase isoform h1 (human)

A ribokinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H477-1.


ribokinase isoform h2 (human)

A ribokinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H477-2.


synaptic vesicle glycoprotein 2B isoform 1 (human)

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


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

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


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

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


Rho-associated protein kinase 1 isoform 1 (human)

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


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

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


a disintegrin and metalloproteinase with thrombospondin motifs 13 isoform h1 (human)

An a disintegrin and metalloproteinase with thrombospondin motifs 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q76LX8-1.


melanotransferrin isoform 1 (human)

A melanotransferrin isoform 1 that is encoded in the genome of human.


DNA replication licensing factor MCM2

A protein that is a translation product of the human MCM2 gene or a 1:1 ortholog thereof.


DNA replication licensing factor MCM2, initiator methionine removed form (human)

A DNA replication licensing factor MCM2, initiator methionine removed form in human. UniProtKB:P49736, 2-904.


DNA replication licensing factor MCM2 phosphorylated 1 (human)

A DNA replication licensing factor MCM2 (human) that has been phosphorylated at Ser-108. UniProtKB:P49736, Ser-108, MOD:00046.


DNA replication licensing factor MCM2 isoform 1 (human)

A DNA replication licensing factor MCM2 isoform 1 that is encoded in the genome of human.


Locally Advanced Endometrial Carcinoma

Endometrial carcinoma that has spread to nearby tissues or lymph nodes.


Locally Advanced Endometrial Adenocarcinoma

Endometrial adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Locally Advanced Unresectable Endometrial Carcinoma

Endometrial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Endometrial Endometrioid Adenocarcinoma

Endometrial endometrioid adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Benzethonium Chloride

A (synthetic) quaternary ammonium salt that is benzyldimethylamine in which the nitrogen is quaternised by a 2-{2-[p-(2,4,4-trimethylpentan-2-yl)phenoxy]ethoxy}ethyl group, with chloride as the counter-ion. An antiseptic and disinfectant, it is active against a broad spectrum of bacteria, fungi, moulds and viruses.


A cholesterol ester in which the acyl group contains 20 carbons in total and 4 double bonds.


disulfide

Compounds of structure RSSR'.


D-Cystine

The D-enantiomer of cystine.


L-Homocystine

A homocystine in which both chiral centres have L configuration.


organic disulfide

Compounds of structure RSSR in which R and R' are organic groups.


homocystines

A non-proteinogenic alpha-amino acid obtained by oxidative dimerisation of homocysteine and its derivatives.


naphthylmethanol

A primary alcohol that is methanol in which one of the methyl hydrogens has been replaced by a naphthyl or a substituted naphthyl group.


protein-tyrosine sulfotransferase 1 isoform 1 (human)

A protein-tyrosine sulfotransferase 1 isoform 1 that is encoded in the genome of human.


vascular cell adhesion protein 1 O-glycosylated 3 (human)

A vascular cell adhesion protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-81 of the amino acid sequence represented by UniProtKB:P19320-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P19320-1, Thr-81, MOD:00005~GNO:G43417UB.


serine/threonine-protein kinase receptor R3 sequence variant L285F (human)

A serine/threonine-protein kinase receptor R3 (human) that has a Phe residue at the position equivalent to Leu-285 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-285, CHEBI:29997.


tryptophan--tRNA ligase, cytoplasmic, initiator methionine removed form (human)

A tryptophan--tRNA ligase, cytoplasmic (human) that has had the initiator methionine removed. UniProtKB:P23381, 2-471.


UDP-glucose:glycoprotein glucosyltransferase 1, signal peptide removed form (human)

A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that has had the signal peptide removed. UniProtKB:Q9NYU2, 43-1555.


UDP-glucose:glycoprotein glucosyltransferase 1 isoform h2 (human)

A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NYU2-2.


UDP-glucose:glycoprotein glucosyltransferase 1 isoform h1 (human)

A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NYU2-1.


late cornified envelope protein 2C

A late cornified envelope protein that is a translation product of the human LCE2C gene or a 1:1 ortholog thereof.


putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform h2 (human)

A putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UET6-2.


andrastin B

A 17-oxo steroid that is andrastin C in which a hydrogen of the methyl group at position 19 has been replaced by a hydroxy group. A farnesyltransferase inhibitor produced by Penicillium roqueforti, a filamentous fungus involved in the ripening of several kinds of blue cheeses.


15-hydroxy steroid

A hydroxy steroid carrying a hydroxy group at position 15.


Ganolucidic acid D

A tetracyclic triterpenoid isolated from the spores of Ganoderma lucidum.


Progesterone in which the hydrogen at the 15beta position is substituted by a hydroxy group.


andrastin A

A 19-oxo steroid that is that is andrastin B in which the hydroxy group at position 19 has been oxidised to give the corresponding aldehyde. A farnesyltransferase inhibitor produced by Penicillium roqueforti, a filamentous fungus involved in the ripening of several kinds of blue cheeses.


andrastin D

A 3-oxo steroid that is andrastin C in which the acetoxy group at the 3beta position has undergone formal oxidative cleavage to afford the corresponding 3-oxo derivative. A farnesyltransferase inhibitor produced by Penicillium roqueforti, a filamentous fungus involved in the ripening of several kinds of blue cheeses.


A 3beta-hydroxysteroid consisting of 3beta-hydroxy-5alpha-cholest-8(14)-ene having an additional hydroxy group at the 15beta-position.


15alpha-hydroxy steroid

A 15-hydroxy steroid in which the hydroxy group at position 15 has an alpha-configuration.


andrastin F

A 17-oxo steroid that is andrastin D in which the keto group at position 3 has undergone formal reduction to give the corresponding 3beta-hydroxy compound.


A 17-oxo steroid that is estrone substituted by an alpha-hydroxy group at position 15.


andrastin C

A 17-oxosteroid that is 17-oxo-5beta,9beta,10alpha,13alpha-androsta-11,15-dieneandroxta-11,15-diene which is substituted by an acetoxy group at the 3beta position, methyl groups at the 4, 4, 8, 12, and 16 positions, a methoxycarbonyl group at position 14, and a hydroxy group at position 15. A farnesyltransferase inhibitor produced by Penicillium roqueforti, a filamentous fungus involved in the ripening of several kinds of blue cheeses.


A 3-hydroxy steroid that is 17beta-estradiol substituted by an alpha-hydroxy group at position 15.


An androstanoid that is testosterone substituted by a alpha-hydroxy group at position 15. A natural product found in Daphnia magna exposed to the biocide tributyltin.


andrastin E

A 17-oxo steroid that is andrastin D in which the keto group at position 3 has undergone formal reduction to give the corresponding 3alpha-hydroxy compound.


A 3beta-hydroxysteroid consisting of 3beta-hydroxy-5alpha-cholestane having an additional hydroxy group at the 15beta-position.


dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1 (human)

A dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2 that is encoded in the genome of human.


serine/threonine-protein kinase Nek10 isoform h1 (human)

A serine/threonine-protein kinase Nek10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZWH5-1.


chymotrypsin-like elastase family member 3B N-glycosylated 7 (human)

A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G27919IH. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G27919IH.


delta-1-pyrroline-5-carboxylate synthase isoform Short (human)

A delta-1-pyrroline-5-carboxylate synthase isoform 2 that is encoded in the genome of human.


pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform h2 (human)

A pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92620-2.


endogenous depression

Depression which is considered strictly biological.


smad4 sequence variant G352R (human)

A mothers against decapentaplegic homolog 4 (human) that has an Arg residue at the position equivalent to Gly-352 of the amino acid sequence represented by UniProtKB:Q13485. UniProtKB:Q13485, Gly-352, CHEBI:29952.


N-acyl-L-phenylalanine

Any N-acyl-L-amino acid obtained by the formal N-acylation of L-phenylalanine.


A synthetic phenylalanine derivative consisting of a 1:1 diatereoisomeric mixture of ochratoxin A and its isochromenyl C-3 epimer.


Rho guanine nucleotide exchange factor 18 isoform h2 (human)

A Rho guanine nucleotide exchange factor 18 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZSZ5-5.


glycine receptor subunit alpha-3 isoform Alpha-3K (human)

A glycine receptor subunit alpha-3 isoform 2 that is encoded in the genome of human.


neuropeptide Y receptor

A rhodopsin-like G-protein coupled receptor that is a translation product of the human NPY1R, NPY2R, or NPY4R to NPY6R genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


neuropeptide Y receptor type 4 isoform 1 (human)

A neuropeptide Y receptor type 4 isoform 1 that is encoded in the genome of human.


neuropeptide Y receptor type 2

A neuropeptide Y receptor that is a translation product of the human NPY2R gene or a 1:1 ortholog thereof.


neuropeptide Y receptor type 5

A neuropeptide Y receptor that is a translation product of the human NPY5R gene or a 1:1 ortholog thereof.


neuropeptide Y receptor type 4 isoform 1 (rat)

A neuropeptide Y receptor type 4 isoform 1 that is encoded in the genome of rat.


neuropeptide Y receptor 6

A neuropeptide Y receptor that is a translation product of the mouse Npy6r gene or a 1:1 ortholog thereof.


neuropeptide Y receptor type 4

A neuropeptide Y receptor that is a translation product of the human NPY4R gene or a 1:1 ortholog thereof. The preferred ligand is pancreatic polypeptide.


neuropeptide Y receptor type 1

A neuropeptide Y receptor that is a translation product of the human NPY1R gene or a 1:1 ortholog thereof. The preferred ligands are neuropeptides Y and YY.


solute carrier family 22 member 1 isoform h2 (human)

A solute carrier family 22 member 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O15245-2.


dedicator of cytokinesis protein 11

A protein that is a translation product of the human DOCK11 gene or a 1:1 ortholog thereof.


dedicator of cytokinesis protein 11 isoform 1 (human)

A dedicator of cytokinesis protein 11 isoform 1 that is encoded in the genome of human.


transient receptor potential cation channel subfamily V member 3 isoform A (human)

A transient receptor potential cation channel TRPV3 isoform A that is encoded in the genome of human.


lactadherin isoform h4 (human)

A lactadherin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q08431-4.


A frizzled-like G-protein coupled receptor that is a translation product of the human FZD10 gene or a 1:1 ortholog thereof.


frizzled-10, signal peptide removed form (human)

A frizzled-10 (human) that has had the signal peptide removed. UniProtKB:Q9ULW2, 21-581.


autoimmune disorder of endocrine system

A hypersensitivity reaction type II disease that involves the endocrine system.


xylulose kinase isoform h2 (human)

A xylulose kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75191-2.


xylulose kinase isoform 1 (human)

A xylulose kinase isoform 1 that is encoded in the genome of human.


Abediterol

A quinolone that is 8-hydroxyquinolin-2(1H)-one which carries a 2-{[6-(2,2-difluoro-2-phenylethoxy)hexyl]amino}-1-hydroxyethyl group at position 5. It is a long acting beta2-adrenoceptor agonist currently in development for the treatment of chronic obstructive pulmonary disease (COPD) and asthma.


kininogen-1 N-glycosylated 12 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P01042-1, Asn-205, MOD:00160~GNO:G06247RL.


kininogen-1 O-glycosylated 22 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-137 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P01042-1, Thr-137, MOD:00005~GNO:G58001LT.


kininogen-1 O-glycosylated 48 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-546 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P01042-1, Thr-546, MOD:00005~GNO:G53434XO.


kininogen-1 O-glycosylated 6 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-150 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P01042-1, Ser-150, MOD:00002~GNO:G58001LT.


kininogen-1 O-glycosylated 30 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-400 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P01042-1, Thr-400, MOD:00005~GNO:G53434XO.


kininogen-1 N-glycosylated 16 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G40926MX. Example: UniProtKB:P01042-1, Asn-205, MOD:00160~GNO:G40926MX.


kininogen-1 N-glycosylated 37 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-48 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01042-1, Asn-48, MOD:00160~GNO:G59626AS.


kininogen-1 O-glycosylated 2 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-150 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P01042-1, Ser-150, MOD:00002~GNO:G17015OC.


kininogen-1 O-glycosylated 10 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-577 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P01042-1, Ser-577, MOD:00002~GNO:G17015OC.