sodium- and chloride-dependent glycine transporter 2 isoform h1 (human)

A sodium- and chloride-dependent glycine transporter 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:Q9Y345-1.


Resectable Renal Cell Carcinoma

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

Renal cell carcinoma that is amenable to surgical resection.


alpha-2A adrenergic receptor isoform 1 (human)

An alpha-2A adrenergic receptor isoform 1 that is encoded in the genome of human.


alpha-2A adrenergic receptor isoform 1 (mouse)

An alpha-2A adrenergic receptor isoform 1 that is encoded in the genome of mouse.


urethral calculus

A concretion in the urethra.


prostate-specific antigen N-glycosylated 26 (human)

A prostate-specific antigen (human) that has been N-glycosylated at the residue equivalent to Asn-69 of the amino acid sequence represented by UniProtKB:P07288-1, in which the glycan structure is represented by GlyTouCan:G34306IB. Example: UniProtKB:P07288-1, Asn-69, MOD:00160~GNO:G34306IB.


retinitis pigmentosa 42

Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.


TDP-43 proteinopathy

Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.


4p16.3 microduplication syndrome

4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.


Grade 2 Liver Dysfunction or Failure by Clinical Classification, CTCAE

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


microtubule-associated protein tau isoform Tau-F phosphorylated 11 (human)

A microtubule-associated protein tau isoform Tau-F phosphorylated 11 in human. UniProtKB:P10636-8, Ser-214, MOD:00046|Thr-217, MOD:00047.


Intraocular Infection

Infection within the eye.


parasitic endophthalmitis

Infection of the epicondyles by a parasite.


A hydroxypolyether that is pentaethylene glycol in which one of the terminal hydrogens is replaced by a dodecyl group.


autoimmune vasculitis

An autoimmune form of vasculitis.


Cogan syndrome

Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.


Benign Epithelial Melanoses of the Conjunctiva

A group of benign, non-neoplastic lesions in the conjunctiva characterized by increased production of melanin without proliferation of conjunctival melanocytes.


Recurrent Breast Acinic Cell Carcinoma

The reemergence of acinic cell breast carcinoma after a period of remission.


immunoskeletal dysplasia with neurodevelopmental abnormalities


cranial nodular fasciitis

A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


Stage V Kidney Wilms Tumor

Wilms tumor that affects both kidneys at the same time. The tumor in each kidney is staged separately (National Wilms Tumor Study Group Staging System)


sodium channel subunit beta-1 isoform 1 (human)

A sodium channel subunit beta-1 isoform 1 that is encoded in the genome of human.


tyrosine-protein kinase ZAP-70 isoform 1 phosphorylated 1 (human)

A tyrosine-protein kinase ZAP-70 isoform 1 phosphorylated 1 in human.


tyrosine-protein kinase ZAP-70 isoform 1 (human)

A tyrosine-protein kinase ZAP-70 isoform 1 that is encoded in the genome of human.


tyrosine-protein kinase ZAP-70 phosphorylated 2 (human)

A tyrosine-protein kinase ZAP-70 (human) that has been post-translationally modified to include phosphotyrosine at positions 315 and 493 of the amino acid sequence represented by UniProtKB:P43403-1. Example: UniProtKB:P43403-1, Tyr-315/Tyr-493, MOD:00048.


tyrosine-protein kinase ZAP-70 phosphorylated 1 (human)

A tyrosine-protein kinase ZAP-70 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-319 of the amino acid sequence represented by UniProtKB:P43403-1. Example: UniProtKB:P43403-1, Tyr-319, MOD:00048.


tyrosine-protein kinase ZAP-70 isoform h3 (human)

A tyrosine-protein kinase ZAP-70 (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:P43403-3.


tyrosine-protein kinase ZAP-70 phosphorylated 3 (human)

A tyrosine-protein kinase ZAP-70 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-493 of the amino acid sequence represented by UniProtKB:P43403-1. Example: UniProtKB:P43403-1, Tyr-493, MOD:00048.


tyrosine-protein kinase ZAP-70 isoform 2 (human)

A tyrosine-protein kinase ZAP-70 isoform 2 that is encoded in the genome of human.


Grade 2 Pulmonary Edema, CTCAE

Moderate dyspnea on exertion; medical intervention indicated; limiting instrumental ADL


Grade 5 Neck Infection NOS Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


microtubule-associated protein tau isoform Tau-F phosphorylated 6 (human)

A microtubule-associated protein tau isoform Tau-F phosphorylated 6 in human. UniProtKB:P10636-8, Ser-416/Ser-422, MOD:00046|Thr-427, MOD:00047.


prostaglandin E2 receptor EP3 subtype isoform hEP3B (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-3.


prostanoid receptor

A rhodopsin-like G-protein coupled receptor that is a translation product of the human PTGDR, PTGDR2, PTGER1 to PTGER4, PTGFR, PTGIR, or TBXA2R genes, 1:1 orthologs thereof, or a semi-ortholog thereof. The active form binds prostanoids (prostaglandins and thromboxanes).


prostaglandin E2 receptor EP3 subtype isoform h12 (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-12.


prostaglandin F2-alpha receptor isoform h7 (human)

A prostaglandin F2-alpha receptor (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:P43088-7.


prostaglandin D2 receptor isoform h2 (human)

A prostaglandin D2 receptor (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:Q13258-2.


prostaglandin F2-alpha receptor

A prostanoid receptor that is a translation product of the human PTGFR gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin F2a. This receptor is particularly prevalent in the corpus luteum, but is expressed in other tissues also.


prostaglandin D2 receptor isoform h1 (human)

A prostaglandin D2 receptor (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:Q13258-1.


prostaglandin F2-alpha receptor isoform h4 (human)

A prostaglandin F2-alpha receptor (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:P43088-4.


prostaglandin E2 receptor EP3 subtype isoform Alpha (mouse)

A prostaglandin E2 receptor EP3 subtype isoform 1 that is encoded in the genome of mouse.


prostaglandin E2 receptor EP3 subtype isoform hEP3-IV (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-9.


prostaglandin E2 receptor EP3 subtype isoform hEP3E2 (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-11.


prostaglandin E2 receptor EP3 subtype isoform hEP3E (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-5.


prostaglandin F2-alpha receptor isoform h3 (human)

A prostaglandin F2-alpha receptor (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:P43088-3.


prostaglandin E2 receptor EP1 subtype isoform 1 (rat)

A prostaglandin E2 receptor EP1 subtype isoform 1 that is encoded in the genome of rat.


prostaglandin E2 receptor EP3 subtype isoform Alpha (rat)

A prostaglandin E2 receptor EP3 subtype isoform 1 that is encoded in the genome of rat.


prostaglandin E2 receptor EP1 subtype isoform 1 (mouse)

A prostaglandin E2 receptor EP1 subtype isoform 1 that is encoded in the genome of mouse.


prostaglandin D2 receptor

A prostanoid receptor that is a translation product of the human PTGDR gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin D2 (PGD2). This receptor is found mainly in blood platelets, vascular smooth muscle, and nervous tissue. It is the least upiquitous of the prostanoid receptors, almost always occurring in association with other prostanoid receptor types.


prostaglandin E2 receptor EP2 subtype

A prostanoid receptor that is a translation product of the human PTGER2 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2 (PGE2). This receptor is expressed mediates various effects, including relaxation of vascular smooth muscles, nonacid secretion from epithelial cells, inhibition of mediator release from mast cells and basophils, and activation of sensory afferent nerves.


prostaglandin E2 receptor EP3 subtype isoform hEP3A (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-1.


prostaglandin E2 receptor EP3 subtype isoform Beta (mouse)

A prostaglandin E2 receptor EP3 subtype isoform 2 that is encoded in the genome of mouse.


thromboxane A2 receptor

A prostanoid receptor that is a translation product of the human TBXA2R gene or a 1:1 ortholog thereof. The preferred ligand is thromboxane A2. This receptor is found mainly in vascular smooth muscle, where it mediates vasoconstriction, in platelets, where it mediates aggregation, and in airway smooth muscle.


thromboxane A2 receptor isoform h2 (human)

A thromboxane A2 receptor (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:P21731-2.


prostaglandin D2 receptor DP2

A prostanoid receptor that is a translation product of the human PTGDR2 gene or a 1:1 ortholog thereof. The preferred ligand is 11-dehydro-thromboxane B2. This receptor is not closely related to the prostaglandin D2 receptor encoded by PGD2.


thromboxane A2 receptor isoform 1 (mouse)

A thromboxane A2 receptor isoform 1 that is encoded in the genome of mouse.


prostaglandin E2 receptor EP1 subtype

A prostanoid receptor that is a translation product of the human PTGER1 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2 (PGE2). This receptor has limited expression, although it is more evident in rodents than in other mammals.


prostacyclin receptor

A prostanoid receptor that is a translation product of the human PTGIR gene or a 1:1 ortholog thereof. The preferred ligand is prostacyclin (prostaglandin I2, PGI2). This receptor is widely distributed in blood platelets, vascular smooth muscle and nerve cells.


prostaglandin F2-alpha receptor isoform h1 (human)

A prostaglandin F2-alpha receptor (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:P43088-1.


prostaglandin E2 receptor EP3 subtype isoform hEP3-V (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-10.


prostaglandin E2 receptor EP3 subtype isoform hEP3-III (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-8.


prostaglandin F2-alpha receptor isoform h6 (human)

A prostaglandin F2-alpha receptor (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:P43088-6.


prostaglandin E2 receptor EP3 subtype isoform hEP3C (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-2.


prostaglandin E2 receptor EP3 subtype

A prostanoid receptor that is a translation product of the human PTGER3 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2 (PGE2). This receptor is the most ubiquitous of the prostaglandin E2 receptors, mediating contraction of gastrointestinal, uterine, and vascular smooth muscle, inhibition of neurotransmitter release from autonomic nerves, inhibition of lipolysis in adipocytes, inhibition of acid secretion from gastric mucosa, and inhibition of water reabsorption in kidney.


prostaglandin E2 receptor EP1 subtype isoform r2 (rat)

A prostaglandin E2 receptor EP1 subtype (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P70597-2.


prostaglandin E2 receptor EP3 subtype isoform hEP3G (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-7.


prostaglandin F2-alpha receptor isoform h5 (human)

A prostaglandin F2-alpha receptor (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:P43088-5.


prostaglandin E2 receptor EP4 subtype

A prostanoid receptor that is a translation product of the human PTGER4 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2. This receptor is not closely related to other prostaglandin E2 receptors.


prostaglandin E2 receptor EP3 subtype isoform hEP3D (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-4.


thromboxane A2 receptor isoform h1 (human)

A thromboxane A2 receptor (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:P21731-3.


prostaglandin E2 receptor EP3 subtype isoform hEP3F (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-6.


prostaglandin F2-alpha receptor isoform h2 (human)

A prostaglandin F2-alpha receptor (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:P43088-2.


prostaglandin E2 receptor EP3 subtype isoform Gamma (rat)

A prostaglandin E2 receptor EP3 subtype isoform 3 that is encoded in the genome of rat.


prostaglandin E2 receptor EP3 subtype isoform Beta (rat)

A prostaglandin E2 receptor EP3 subtype isoform 2 that is encoded in the genome of rat.


prostaglandin E2 receptor EP3 subtype isoform Gamma (mouse)

A prostaglandin E2 receptor EP3 subtype isoform 3 that is encoded in the genome of mouse.


prostaglandin F2-alpha receptor isoform 1 (mouse)

A prostaglandin F2-alpha receptor isoform 1 that is encoded in the genome of mouse.


upper aerodigestive tract neoplasm

Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)


Adenocarcinoma in multiple adenomatous polyps

Adenocarcinomas developing in gastrointestinal tract adenomas in patients with multiple adenomatous polyps.


Adenocarcinoma in adenomatous polyposis coli

Adenocarcinomas developing in colorectal adenomas in patients with a history of adenomatous polyposis coli. The mean age of development of adenocarcinoma is about 40 years.


childhood parosteal osteosarcoma

A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.


peripheral osteosarcoma

A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.


high grade surface osteosarcoma

A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.


Childhood Periosteal Osteosarcoma

A periosteal osteosarcoma occurring in childhood.


periosteal osteogenic sarcoma

An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.


juxtacortical osteosarcoma

A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.


sodium/myo-inositol cotransporter 2 isoform h1 (human)

A sodium/myo-inositol cotransporter 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:Q8WWX8-1.


Dull Chest Pain

The sensation of chest pain described as a mild or blunted discomfort.


Grade 2 Stomach Infection with Unknown Absolute Neutrophil Count, CTCAE


A reactive cutaneous proliferation of macrophages. It is characterized by the presence of giant cells with ground-glass cytoplasm. It presents with multiple cutaneous or mucosal papules or nodules.


Epididymal Melanotic Neuroectodermal Tumor

A rare neoplasm that arises from the epididymis and is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It usually occurs in infants and has a benign clinical course.


serine/threonine-protein kinase Nek9, initiator methionine removed phosphorylated 3 (human)

A serine/threonine-protein kinase Nek9 (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphoserine at positions 29, 750 and 869, and phosphothreonine at position 333 of the amino acid sequence represented by UniProtKB:Q8TD19. UniProtKB:Q8TD19, 2-979, Ser-29/Ser-750/Ser-869, MOD:00046|Thr-333, MOD:00047.


Grade 4 Cecum Stricture or Stenosis, CTCAE


Grade 5 Cecum Stricture or Stenosis, CTCAE


Grade 3 Cecum Stricture or Stenosis, CTCAE


Grade 1 Cecum Stricture or Stenosis, CTCAE


Grade 2 Cecum Stricture or Stenosis, CTCAE


facial nerve neoplasm

A neoplasm involving a facial nerve.


facial neuralgia

Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.


geniculate ganglionitis

Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.


familial isolated deficiency of vitamin E

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.


hypertriglyceridemia 1

A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.


NIK deficiency

A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).


transient retinal arterial occlusion

A partial, temporary occlusion of the retinal artery.


Hepatic Arterial Occlusion

An occlusion of the hepatic artery.


Efferent Arteriolar Hyalinosis

The deposition of hyaline material in the wall of the efferent arterioles.


aortic disorder

Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)


Systemic Arterial Hypertensive Disorder

Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source.


coronary atherosclerosis

Atherosclerosis of the coronary vasculature.


Three Vessel Coronary Disease

There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in three coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery and greater than or equal to 50% stenosis in the right coronary artery). (ACC)


generalized atherosclerosis

Atherosclerosis that is not localized.


arterial occlusion

Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.


partial arterial retinal occlusion

A partial occlusion of the retinal artery.


Infectious Arteritis

A bacterial or viral infectious process affecting an artery.


Overlap Necrotizing Arteritis

A necrotizing arteritis that exhibits characteristic features of several distinct vascular disorders.


vasculitis due to ADA2 deficiency

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.


Necrotizing Arteritis

An arteritis characterized by the presence of inflammation and necrosis in the arterial wall.


Double coronary vessel disease

There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in two coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery). (ACC)


cerebral atherosclerosis

Atherosclerosis of the cerebral vasculature.


arteriolosclerosis

The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.


Monckeberg arteriosclerosis

A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.


One Vessel Coronary Disease

There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in one coronary artery. (ACC)


cutaneous polyarteritis nodosa

Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.


Generalised arteriosclerosis

Arteriosclerosis that is not localized.


Significant Arterial Dissection

A dissection that impairs flow. This includes Type C (a persisting contrast medium extravasation) in the presence of ischemia, Type D (a spiral filling defect with delayed but complete distal flow), Type E (persistent filling defect with delayed antegrade flow) and Type F (filling defect with impaired flow and total occlusion).


Hyaline arteriolosclerosis

The deposition of hyaline material in the wall of the arterioles.


granulomatous angiitis

Inflammation of the arteries that is characterized by the presence of granulomas.


Femoropopliteal Occlusive Disease

An occlusive disease of the femoropopliteal vascular system.


endarteritis

Inflammation of the arterial intima.


Lung Radiation Injury

Radiation injury of the pulmonary system.


middle ear cholesterol granuloma

As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.


Cholesterol granuloma

A cystic inflammatory lesion that is comprised of fluids, lipids, and cholesterol crystals, and which is surrounded by a fibrous lining.


Bronchospasm, Exercise-Induced

Sudden contraction of the smooth muscles of the bronchial wall that occurs during or following exercise.


Drug-induced cutaneous lupus erythematosus

A reaction to a drug characterized by skin findings common to lupus including photosensitivity and butterfly rash; typically it resolves after drug discontinuation.


lupus erythematosus tumidus

Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.


protein kinase C alpha type, initiator methionine removed phosphorylated 1 (human)

A protein kinase C alpha type (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphothreonine at position 497 of the amino acid sequence represented by UniProtKB:P17252. UniProtKB:P17252, 2-672, Thr-497, MOD:00047.


hematopoietic prostaglandin D synthase, initiator methionine removed form (human)

A hematopoietic prostaglandin D synthase (human) that has had the initiator methionine removed. UniProtKB:O60760, 2-199.


clear cell sarcoma

A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.


Childhood Clear Cell Sarcoma of Soft Parts

A clear cell sarcoma of soft tissue occurring in children.


Metastatic Clear Cell Sarcoma of Soft Tissue

A clear cell sarcoma of soft tissue that has spread from the original site of growth to other anatomic sites.


Advanced Clear Cell Sarcoma of Soft Tissue

A clear cell sarcoma of soft tissue that has spread extensively to other anatomic sites or is no longer responding to treatment.


Recurrent Clear Cell Sarcoma of Soft Tissue

The reemergence of clear cell sarcoma of soft tissue after a period of remission.


Refractory Clear Cell Sarcoma of Soft Tissue

Clear cell sarcoma of soft tissue that is resistant to treatment.


homeodomain-interacting protein kinase 2 isoform h1 (human)

A homeodomain-interacting protein kinase 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:Q9H2X6-1.


homeodomain-interacting protein kinase 2

A protein that is a translation product of the human HIPK2 gene or a 1:1 ortholog thereof.


homeodomain-interacting protein kinase 2 isoform h2 (human)

A homeodomain-interacting protein kinase 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:Q9H2X6-2.


homeodomain-interacting protein kinase 2 isoform h3 (human)

A homeodomain-interacting protein kinase 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:Q9H2X6-3.


homeodomain-interacting protein kinase 2 phosphorylated form (human)

A homeodomain-interacting protein kinase 2 (human) that includes at least one phosphorylated residue. UniProtKB:Q9H2X6, MOD:00696.


COG4-congenital disorder of glycosylation

COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.


primary cutaneous gamma/delta-positive T-cell lymphoma

Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.


succinate-semialdehyde dehydrogenase, mitochondrial isoform h1 (human)

A succinate-semialdehyde dehydrogenase, mitochondrial (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:P51649-1.


fatty acid-binding protein 5 isoform 1 (human)

A fatty acid-binding protein 5 isoform 1 that is encoded in the genome of human.


fatty acid-binding protein 5, initiator methionine removed form (human)

A fatty acid-binding protein 5 (human) that has had the initiator methionine removed. UniProtKB:Q01469, 2-135.


Grade 4 Periorbital Infection, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 1 Carbon Monoxide Diffusing Capacity Decreased, CTCAE

3-5 units below LLN; for follow-up, a decrease of 3-5 units (ml/min/mm Hg) below the baseline value; asymptomatic and intervention not indicated


Locally Advanced Unresectable Gastric Adenocarcinoma

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


Metastatic Unresectable Carcinoma

A carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


Metastatic Unresectable Basal Cell Carcinoma

A basal cell carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


Locally Advanced Unresectable Esophageal Adenocarcinoma

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


Locally Advanced Unresectable Colorectal Adenocarcinoma

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


Locally Advanced Unresectable Gastroesophageal Junction Adenocarcinoma

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


Locally Advanced Unresectable Pancreatic Adenocarcinoma

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


Metastatic Unresectable Gastric Adenocarcinoma

A gastric adenocarcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


Locally Advanced Unresectable Triple-Negative Breast Carcinoma

Triple-negative breast 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 Unresectable Colon Adenocarcinoma

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


Locally Advanced Unresectable Basal Cell Carcinoma

A basal cell 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 Unresectable Carcinoma

A 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 Unresectable Prostate Adenocarcinoma

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


Locally Advanced Unresectable Breast Carcinoma

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


Unresectable Castration-Resistant Prostate Carcinoma

Castration-resistant prostate carcinoma that is not amenable to surgical resection.


Locally Advanced Unresectable Renal Cell Carcinoma

A renal cell 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 Unresectable HER2-Negative Breast Carcinoma

HER2-negative breast 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 Unresectable Cervical Adenocarcinoma

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


Locally Advanced Unresectable Lung Non-Small Cell Squamous Carcinoma

A non-small cell squamous carcinoma of the lung that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable HER2-Positive Breast Carcinoma

HER2-positive breast 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 Unresectable Fallopian Tube Carcinoma

Fallopian tube 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 Unresectable Hormone Receptor-Positive Breast Carcinoma

Hormone receptor-positive breast 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 Unresectable Prostate Carcinoma

A prostatic 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 Unresectable Cervical Carcinoma

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


Stage IA Uterine Sarcoma AJCC v7

Stage IA includes: T1a, N0, M0.  T1a: For leiomyosarcoma and endometrial stromal sarcoma: tumor 5 cm or less in greatest dimension.  For adenosarcoma: tumor limited to endometrium/endocervix.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


tonsil neoplasm

A neoplasm (disease) that involves the tonsil.


benign neoplasm of tonsil

A benign neoplasm that involves the tonsil.


tonsillar lipoma

A benign adipose tissue neoplasm of the tonsils.


Grade 5 Gastrointestinal Fistula, CTCAE

Death


Eccrine angiomatous hamartoma

A rare, congenital skin lesion consisting of a proliferation of eccrine glands with a vascular stroma. It presents as a flesh-colored, hyperhidrotic, painful papule or plaque appearing at birth or during childhood.


plantar fibromatosis

A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.


hereditary painful callosities

Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.


Grade 2 Palpitations, CTCAE

Intervention indicated


X-linked sideroblastic anemia with ataxia

A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.


Grade 4 Colonic Perforation, CTCAE

Life-threatening consequences; urgent intervention indicated


Undifferentiated Juvenile Idiopathic Arthritis

A category of juvenile idiopathic arthritis that does not fulfill any single category or has criteria for more than one category.


magnetite nanoparticle

A nanoparticle consisting of magnetite, Fe(2+)Fe(3+)2O4.


Stage IVB Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage IVB includes: T0, N3, M0. T0: No evidence of primary tumor. N3: Metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-); or metastases in a single ipsilateral cervical lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral cervical lymph nodes, any size and ENE(+) in any node. M0: No distant metastasis. (AJCC 8th Ed.)


Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy by AJCC v8 Stage

A term that refers to the staging of unknown primary tumor (except for EBV-related and HPV-related tumors) and metastatic cervical adenopathy according to the American Joint Committee on Cancer, 8th edition.


Stage IVA Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage IVA includes: T0, N2, M0. T0: No evidence of primary tumor. N2: Metastasis in a single ipsilateral or contralateral cervical lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVC Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage IVC includes: T0, Any N, M1. T0: No evidence of primary tumor. M1: Distant metastasis. (AJCC 8th Ed.)


Stage III Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage III includes: T0, N1, M0. T0: No evidence of primary tumor. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). M0: No distant metastasis. (AJCC 8th Ed.)


Recurrent Metastatic Merkel Cell Carcinoma

The reemergence of a metastatic Merkel cell carcinoma after a period of remission.


Recurrent Metastatic Malignant Neoplasm

The reemergence of a metastatic malignant neoplasm after a period of remission.


Recurrent Metastatic Melanoma

The reemergence of metastatic melanoma after a period of remission.


Recurrent Carcinoma of Unknown Primary

The reemergence of carcinoma from an unknown primary after a period of remission.


Recurrent Metastatic Digestive System Carcinoma

The reemergence of a metastatic digestive system carcinoma after a period of remission.


Recurrent Pseudomyxoma Peritonei

The reemergence of pseudomyxoma peritonei after a period of remission.


Recurrent Metastatic Malignant Neoplasm in the Leptomeninges

The reemergence of a metastatic malignant neoplasm in the leptomeninges after a period of remission.


Recurrent Metastatic Gastric Carcinoma

The reemergence of metastatic gastric carcinoma after a period of remission.


Recurrent Metastatic Skin Squamous Cell Carcinoma

The reemergence of a metastatic skin squamous cell carcinoma after a period of remission.


Grade 2 Sinus Intra-Operative Injury, CTCAE


nuclear receptor ROR-gamma isoform 1 (human)

A nuclear receptor ROR-gamma (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:P51449-1.


nuclear receptor ROR-gamma isoform h2 (human)

A nuclear receptor ROR-gamma (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:P51449-2.


Mitochondrially Inherited Nonsyndromic Sensorineural Deafness

A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes.


Deafness due to Connexin 26 Gene Anomaly

Congenital deafness caused by mutations in the gene GJB2 (deafness gene).


Complete neonatal hearing loss

Complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


Neonatal hearing loss

Partial or complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


autosomal recessive nonsyndromic hearing loss 1A

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.


central hearing loss

Hearing loss resulting from disorders of the central nervous system auditory pathways.


autosomal recessive nonsyndromic hearing loss 49

An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.


autosomal dominant nonsyndromic hearing loss 36

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


Hearing Loss, Functional

Hearing loss in the absence of auditory system pathology.


autosomal recessive nonsyndromic hearing loss 36

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.


autosomal recessive nonsyndromic hearing loss 28

An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.


Partial neonatal hearing loss

Partial loss of the ability to detect or understand sounds present in an infant within its first month after birth.


autosomal recessive nonsyndromic hearing loss 39

An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.


noise induced hearing loss

A condition in which a person loses the ability to hear due to exposure to high intensity sound.


autosomal dominant nonsyndromic hearing loss 41

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.


hearing loss, X-linked 4

Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.


X-linked hereditary sensory and autonomic neuropathy with hearing loss

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.


Sensory hearing loss

Hearing loss caused by damage to the cochlea in the inner ear.


severe intellectual disability-progressive spastic diplegia syndrome

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.


hand dermatosis

Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.


pyromania

A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


arthus reaction

A localized vasculitis resulting from deposition of antibody-antigen complexes.


amyloid-beta precursor protein O-glycosylated 6 (human)

An amyloid-beta precursor protein (human) that has been O-glycosylated at the residue equivalent to Thr-367 of the amino acid sequence represented by UniProtKB:P05067-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05067-1, Thr-367, MOD:00005~GNO:G43417UB.


Grade 1 Intraoperative Venous Injury, CTCAE

Primary repair of injured organ/structure indicated


Intraoperative Venous Injury, CTCAE

A finding of damage to a vein during a surgical procedure.


Grade 2 Intraoperative Venous Injury, CTCAE

Partial resection of injured organ/structure indicated


Grade 4 Intraoperative Venous Injury, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 3 Intraoperative Venous Injury, CTCAE

Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL


Grade 5 Intraoperative Venous Injury, CTCAE

Death


Grade 1 Genitourinary Stoma Prolapse, CTCAE


Testicular Mixed Choriocarcinoma and Teratoma

A malignant mixed germ cell tumor arising from the testis.  It is characterized by the presence of a teratomatous component and malignant syncytiotrophoblastic cells.


eyelid degenerative disorder

A neurodegenerative disease that involves the eyelid.


B-cell antigen receptor complex-associated protein beta chain, signal peptide removed form (human)

A B-cell antigen receptor complex-associated protein beta chain (human) that has had the signal peptide removed. UniProtKB:P40259, 29-229.


B-cell antigen receptor complex-associated protein beta chain, signal peptide removed phosphorylated 1 (human)

A B-cell antigen receptor complex-associated protein beta chain (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 196 and 207 of the amino acid sequence represented by UniProtKB:P40259. UniProtKB:P40259, 29-229, Tyr-196/Tyr-207, MOD:00048.


hyperphosphatasia with intellectual disability syndrome 2

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.


potassium voltage-gated channel subfamily D member 3 isoform 2 (human)

A voltage-gated potassium channel KCND3 isoform 2 that is encoded in the genome of human.


potassium voltage-gated channel subfamily D member 3 isoform 2 (mouse)

A voltage-gated potassium channel KCND3 isoform 2 that is encoded in the genome of mouse.


External Prosthetic Device Pain

Pain that is associated with an external artificial replacement device.


Grade 4 Trachea Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


benign neoplasm of endometrium

A benign neoplasm that involves the endometrium.


Malignant nasopharyngeal neoplasm recurrent

The reemergence of a nasopharyngeal malignant neoplasm after a period of remission.


superoxide dismutase [Mn], mitochondrial, transit peptide removed form (human)

A superoxide dismutase [Mn], mitochondrial (human) that has had the transit peptide removed. UniProtKB:P04179, 25-222.


Lymphoma of kidney

A lymphoma that arises from the kidney. There is no evidence of a systemic lymphoproliferative disorder.


Peritoneal Histiocytic Nodule

A nodule in the peritoneum composed of benign histiocytes.


cholane derivative

Any steroid (or derivative) based on a cholane skeleton.


A steroid compound with a structure based on a 24-carbon (cholane) skeleton.


interleukin-1 alpha isoform 1 myristoylated 2 (human)

An interleukin-1 alpha isoform 1 myristoylated 2 in human. UniProtKB:P01583-1, Lys-82, MOD:00087.


interleukin-1 alpha isoform 1 myristoylated 1 (human)

An interleukin-1 alpha isoform 1 myristoylated 1 in human. UniProtKB:P01583-1, Lys-83, MOD:00087.


interleukin-1 alpha isoform 1 (human)

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


interleukin-1 alpha isoform 1 cleaved 1 (human)

An interleukin-1 alpha isoform 1 cleaved 1 in human. UniProtKB:P01583-1, 113-271.


follicular dendritic cell sarcoma of mediastinum

A rare follicular dendritic cell sarcoma that affects the structures of the mediastinum.


streptococcus pneumoniae discitis

Discitis caused by infection with Streptococcus pneumoniae.


vitamin K-dependent gamma-carboxylase isoform 1 (human)

A vitamin K-dependent gamma-carboxylase isoform 1 that is encoded in the genome of human.


atrial septal defect 9

Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.


Ewing sarcoma of bone

A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.


acute hypotension

Acute form of hypotension (disease).


Pancreatic Mucinous-Cystic Neoplasm, High Grade

A non-invasive mucinous cystic neoplasm that arises from the pancreas and is characterized by the presence of severe dysplasia.  The neoplastic columnar mucin-producing epithelial cells form papillae with irregular branching and budding.  There is nuclear stratification, prominent nucleoli, and cellular pleomorphism.  Mitotic activity is present and the mitoses may be atypical.


Parenteral Nutrition - Associated Cholestasis

Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage.


Recurrent Intrahepatic Cholestasis

Reappearance of cholestasis caused by obstruction within the liver.


Genital rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the female genital tract. It is characterized by the presence of small nucleated rhabdomyoblasts within a fibrous and myxoid stroma.


Benign Skeletal Muscle Neoplasm

A benign mesenchymal neoplasm arising from skeletal muscle tissue.


Extracardiac Rhabdomyoma

A benign mesenchymal neoplasm that shows mature skeletal muscle differentiation.


Central Nervous System Rhabdomyoma

A benign mesenchymal neoplasm arising from the central nervous system.  It consists of mature skeletal muscle tissue.


Intermediate Rhabdomyoma

A morphologic variant of fetal rhabdomyoma characterized by the presence of spindle cell myoblasts and strap-like skeletal muscle cells.


Vulvar Rhabdomyoma

A rare benign polypoid skeletal muscle neoplasm arising from the vulva. It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Fetal rhabdomyoma

A rare benign mesenchymal neoplasm arising from skeletal muscle. It is characterized by the presence of immature spindle and polygonal cells within a scant myxoid stroma. It usually develops in the head and neck region of young children.


Paratesticular Rhabdomyoma

A rhabdomyoma that arises from the paratesticular region.


Vaginal Rhabdomyoma

A rare benign polypoid skeletal muscle neoplasm arising from the vagina.  It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Adult Extracardiac Rhabdomyoma

A benign mesenchymal neoplasm arising from skeletal muscle and occurring in adults.


Classic Rhabdomyoma

A morphologic variant of fetal rhabdomyoma characterized by the presence of a prominent myxoid stroma and primitive skeletal spindle cells.


Mediastinal Rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the mediastinum.


Grade 4 Intraoperative Musculoskeletal Injury, CTCAE

Life-threatening consequences; urgent intervention indicated


atrial septal defect 7

Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.


mesenteric lymphadenitis

Inflammation of the mesenteric lymph nodes.


trihydroxyflavanone

A hydroxyflavanone carrying three hydroxy substituents.


amyloidosis, primary localized cutaneous, 1

Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.


familial primary localized cutaneous amyloidosis


amyloidosis, primary localized cutaneous, 3


amyloidosis, primary localized cutaneous, 2


Stage IB Fallopian Tube Cancer AJCC v6 and v7

Stage IB includes: T1b, N0, M0.  T1b: Tumor limited to both tubes, without penetrating the serosal surface; no ascites.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Grade 1 Subcutaneous Emphysema, CTCAE

Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated


Subcutaneous Emphysema, CTCAE

A disorder characterized by air in the subcutaneous tissue.


Grade 2 Subcutaneous Emphysema, CTCAE

Moderate; minimal, local or noninvasive intervention indicated


Grade 3 Subcutaneous Emphysema, CTCAE

Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL


Expanding aneurysm

Expansion of aneurysm.


Grade 3 Vaginal Pain, CTCAE

Severe pain; limiting self care ADL


Vaginal Pain, CTCAE 5.0

A disorder characterized by a sensation of marked discomfort in the vagina.


Grade 2 Vaginal Pain, CTCAE

Moderate pain; limiting instrumental ADL


Grade 1 Vaginal Pain, CTCAE

Mild pain


Grade 1 Abdominal Distension or Bloating, CTCAE


lutropin-choriogonadotropic hormone receptor isoform Long (human)

A lutropin-choriogonadotropic hormone receptor (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:P22888-1.


follicular atrophoderma-basal cell carcinoma


BMP receptor type-1B isoform 1 phosphorylated 1 (human)

A BMP receptor type-1B isoform 1 phosphorylated 1 in human.


Metastatic Malignant Abdominal Neoplasm

A malignant neoplasm that arises from the abdomen and has spread from its original site of growth to another anatomic site.


Advanced Malignant Abdominal Neoplasm

A malignant neoplasm that arises from the abdomen and has spread extensively to other anatomic sites or is no longer responding to treatment.


sick sinus syndrome 2, autosomal dominant

Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.


20q11.2 microduplication syndrome

20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.


potassium-transporting ATPase alpha chain 1, initiator methionine removed form (human)

A potassium-transporting ATPase alpha chain 1 (human) that has had the initiator methionine removed. UniProtKB:P20648, 2-1035.


brachydactyly type E2

Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.


immunodeficiency 32B

A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.


organosulfonic ester

An ester resulting from the formal condensation of the hydroxy group of an alcohol, phenol, heteroarenol, or enol with an organosulfonic acid.


methanesulfonate ester

An organosulfonic ester resulting from the formal condensation of methanesulfonic acid with the hydroxy group of an alcohol, phenol, heteroarenol, or enol.


arenesulfonate ester

An organosulfonic ester resulting from the formal condensation of an arenesulfonic acid with the hydroxy group of an alcohol, enol, phenol or heteroarenol.


congenital narrowing of cervical spinal canal

Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.


atrial natriuretic peptide receptor 2 isoform Long (human)

An atrial natriuretic peptide receptor 2 isoform 1 that is encoded in the genome of human.


Vas deferens perforation

A rupture in the wall of the vas deferens.


phosphoserine aminotransferase isoform 1 (human)

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


Retinoblastoma, diffuse

A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy.


5-hydroxytryptamine receptor 3B isoform h2 (human)

A 5-hydroxytryptamine receptor 3B (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:O95264-2.


5-hydroxytryptamine receptor 3B

A 5-HT3 receptor protein that is a translation product of the human HTR3B gene or a 1:1 ortholog thereof.


5-hydroxytryptamine receptor 3B, signal peptide removed form (human)

A 5-hydroxytryptamine receptor 3B (human) that has had the signal peptide removed. UniProtKB:O95264, 22-441.


5-hydroxytryptamine receptor 3B isoform h1 (human)

A 5-hydroxytryptamine receptor 3B (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:O95264-1.


mesocestoidiasis

An disease or disorder caused by infection with Mesocestoides.


Refractory Vaginal Squamous Cell Carcinoma

Vaginal squamous cell carcinoma that is resistant to treatment.


dual specificity protein kinase TTK isoform h1 (human)

A dual specificity protein kinase TTK (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:P33981-1.


dual specificity protein kinase TTK

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


TTK activation loop and P+1 loop phosphorylated form (human)

A dual specificity protein kinase TTK (human) that has been phosphorylated on one of three sites within the activation loop and on a Thr residue in the P+1 loop. Example: UniProtKB:P33981-1, (Thr-675, MOD:00047 or Thr-676, MOD:00047 or Ser-677, MOD:00046)|Thr-686, MOD:00047.


TTK activation loop-phosphorylated form (human)

A dual specificity protein kinase TTK (human) that has been phosphorylated on one of three sites within the activation loop, at positions equivalent to Thr-675 or Thr-676 or Ser-677 of the amino acid sequence represented by UniProtKB:P33981-1. Example: UniProtKB:P33981-1, (Thr-675, MOD:00047 or Thr-676, MOD:00047)|Ser-677, MOD:00046.


dual specificity protein kinase TTK isoform h2 (human)

A dual specificity protein kinase TTK (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:P33981-2.


dual specificity protein kinase TTK phosphorylated 1 (human)

A dual specificity protein kinase TTK (human) that has been phosphorylated on the residue at the position equivalent to Thr-676 of the amino acid sequence represented by UniProtKB:P33981-1. Example: UniProtKB:P33981-1, Thr-676, MOD:00047.


fibrous meningioma

A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.


Larsen-like syndrome, B3GAT3 type

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.


primary ciliary dyskinesia 13

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.


2:1 Atrioventricular Block by ECG Finding

An electrocardiographic finding of a supraventricular rhythm where the ratio of impulses generated above the atrioventricular node to the number of impulses conducted through to the ventricles is 2:1. This is manifested on the ECG as 2 P waves per QRS complex. (CDISC)


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial

A protein that is a translation product of the human PDK3 gene or a 1:1 ortholog thereof.


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial isoform h1 (human)

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (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:Q15120-1.


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial isoform 2 (human)

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial isoform 2 that is encoded in the genome of human.


Myeloblasts 10-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Myeloblasts 5-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Factor V Inactivation

Presence of inactivating antibodies to factor V in the blood.


acquired factor V deficiency

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


Gallbladder Adenoma, Intestinal-Type

An adenoma that arises from the gallbladder and is associated with intestinal-type differentiation.


neoplastic polyp

A term that includes all polypoid growth from the inner lining of the mucous membrane.


Cervical Microglandular Polyp

A benign endocervical polypoid epithelial hyperplasia characterized by the presence of tightly packed glandular structures. It is usually seen in women on oral contraceptive therapy and during pregnancy.


tubular adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubular architectural pattern.


Precancerous Polyp

A polyp with severe dysplastic features.


villous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a villous architectural pattern.


adenomatous polyp of stomach

A neoplastic polyp that arises from the stomach. It is associated with intestinal-type differentiation. The presence of high grade dysplasia and a size of more than 2 cm are factors that increase the risk of malignant transformation.


Ampulla of Vater Tubular Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia.


polyp of middle ear

A benign polypoid growth in the middle ear.


Ampulla of Vater Villous Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.


Adenomatous Polyps

A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum..


Endocervical polyp

A polyp that arises from the endocervix. It is characterized by the presence of endocervical glands and a fibrovascular stroma.


Fallopian Tube Endometrioid Polyp

An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium.  It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy.


Colorectal Adenomatous Polyp

A polypoid adenoma that arises from and protrudes into the lumen of the colon or rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


Adenoma of ampulla of Vater

An adenoma that arises from the ampulla of Vater and resembles the adenomas of the small and large intestines.  Morphologically, according to the growth pattern, it may be classified as tubular, tubulovillous, or villous.  Dysplasia is always present.  Jaundice may be an early symptom.


Adenomatous polyp of rectum

A polypoid adenoma that arises from and protrudes into the lumen of the rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


polyposis

A condition characterized by the presence of numerous polyps.


Intestinal-type adenoma

An adenoma that arises from the glandular epithelium of the gastrointestinal tract and is associated with intestinal-type differentiation.


tubulovillous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubulovillous architectural pattern.


polyp of external auditory canal

A polyp that involves the external acoustic meatus.


Eosinophilic granulomatous polyp

A benign, often polypoid, hypocellular fibroblastic neoplasm with a predilection for the stomach and ileum, containing a prominent inflammatory infiltrate, especially eosinophils. (WHO 2019)


tubulopapillary adenoma of gallbladder

A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019)


myxoid/round cell liposarcoma

Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.


ovarian myxoid liposarcoma

A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.


round cell liposarcoma

A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.


Vaginal Cancer by AJCC v8 Stage

A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.)


Stage III Vaginal Cancer AJCC v8

Stage III includes: (T1-T3, N1, M0); (T3, N0, M0). T1: Tumor confined to the vagina. T2: Tumor invading paravaginal tissues but not to pelvic sidewall. T3: Tumor extending to the pelvic sidewall and/or involving the lower third of the vagina and/or causing hydronephrosis or nonfunctioning kidney. N0: No regional lymph node metastasis. N1: Pelvic or inguinal lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IV Vaginal Cancer AJCC v8

Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)


Stage II Vaginal Cancer AJCC v8

Stage II includes: IIA: T2a, N0, M0; IIB: T2b, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIA Vaginal Cancer AJCC v8

Stage IIA includes: T2a, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIB Vaginal Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVB Vaginal Cancer AJCC v8

Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)


von Willebrand factor N-glycosylated 32 (human)

A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P04275-1, Asn-666, MOD:00160~GNO:G88374WZ.


calcitonin receptor isoform h1 (human)

A calcitonin receptor (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:P30988-2.


calcitonin receptor protein

A rhodopsin-like G-protein coupled receptor that is a translation product of the human CALCR or CALCRL genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


calcitonin receptor

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


calcitonin gene-related peptide type 1 receptor

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


calcitonin receptor isoform h6 (human)

A calcitonin receptor (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:P30988-6.


calcitonin receptor isoform h5 (human)

A calcitonin receptor (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:P30988-5.


calcitonin receptor isoform h4 (human)

A calcitonin receptor (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:P30988-4.


calcitonin gene-related peptide type 1 receptor, signal peptide removed form (human)

A calcitonin gene-related peptide type 1 receptor (human) that has had the signal peptide removed. UniProtKB:Q16602, 23-461.


calcitonin receptor isoform h2 (human)

A calcitonin receptor (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:P30988-1.


calcitonin receptor isoform h3 (human)

A calcitonin receptor (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:P30988-3.


NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform 1 (human)

An NAD-dependent deacetylase sirtuin-5 isoform 1 that is encoded in the genome of human.


Pyridoxamine phosphate

A vitamin B6 phosphate that is the  phosphoric ester derivative of pyridoxamine.


Pyridoxamine

A monohydroxypyridine that is pyridine substituted by a hydroxy group at position 3, an aminomethyl group at position 4, a hydroxymethyl group at position 5 and a methyl group at position 2. The 4-aminomethyl form of vitamin B6, it is used (in the form of the hydrochloride salt) for treatment of diabetic nephropathy.


cAMP-dependent protein kinase catalytic subunit alpha isoform 1 (cow)

A cAMP-dependent protein kinase catalytic subunit alpha isoform 1 that is encoded in the genome of cow.


cAMP-dependent protein kinase catalytic subunit alpha isoform 1, initiator methionine removed phosphorylated 1 (cow)

A cAMP-dependent protein kinase catalytic subunit alpha isoform 1, initiator methionine removed phosphorylated 1 in cow. UniProtKB:P00517-1, 2-351, Ser-11/Ser-339, MOD:00046|Thr-198, MOD:00047.


Decreased Corpora Lutea

A decrease in the number of corpora lutea within the ovary.


Prostate Stromal Proliferation of Uncertain Malignant Potential

A neoplastic lesion that arises from the prostate gland stroma.  Morphologic characteristics include hypercellular stroma with scattered atypical cells, prominent overgrowth of the prostatic stroma, or changes resembling benign phyllodes tumor.  The majority of cases do not have an aggressive clinical course.  A minority of cases however, may progress to stromal sarcoma.


Grade 5 Appendicitis Perforated, CTCAE

Death


tibial muscular dystrophy

A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.


Meyerson Nevus

A benign melanocytic nevus surrounded by eczematous changes.


Metastatic malignant neoplasm to supraclavicular lymph nodes

The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes.


Metastatic Malignant Neoplasm in the Regional Lymph Nodes

The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes.


Breast Carcinoma Metastatic in the Lymph Nodes

A carcinoma that arises from the breast and has spread to the lymph nodes.


Metastatic malignant neoplasm to mediastinal lymph nodes

The spread of a malignant neoplasm to the mediastinal lymph nodes from an adjacent or distant anatomic site.


Prostate Carcinoma Metastatic in the Lymph Nodes

A carcinoma that arises from the prostate gland and has spread to the lymph nodes.


Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes

A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes.


Dextro-Transposition of the Great Vessels with Intact Ventricular Septum

A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles.


death-associated protein kinase

A protein that is a translation product of the human DAPK1, DAPK2, or DAPK3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


death-associated protein kinase 2 isoform 1 (human)

A death-associated protein kinase 2 isoform 1 that is encoded in the genome of human.


death-associated protein kinase 3 isoform h2 (human)

A death-associated protein kinase 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:O43293-2.


death-associated protein kinase 3

A death-associated protein kinase that is a translation product of the human DAPK3 gene or a 1:1 ortholog thereof.


death-associated protein kinase 3 isoform 1 (human)

A death-associated protein kinase 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:O43293-1.


death-associated protein kinase 2

A death-associated protein kinase that is a translation product of the human DAPK2 gene or a 1:1 ortholog thereof.


death-associated protein kinase 1 isoform h2 (human)

A death-associated 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:P53355-2.


death-associated protein kinase 1 isoform h4 (human)

A death-associated 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:P53355-4.


death-associated protein kinase 1 phosphorylated 1 (human)

A death-associated protein kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-289 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Ser-289, MOD:00046.


death-associated protein kinase 2 isoform h2 (human)

A death-associated protein kinase 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:Q9UIK4-2.


death-associated protein kinase 1 isoform h3 (human)

A death-associated 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:P53355-3.


death-associated protein kinase 1 isoform 1 (human)

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


death-associated protein kinase 1

A death-associated protein kinase that is a translation product of the human DAPK1 gene or a 1:1 ortholog thereof.


death-associated protein kinase 3 phosphorylated 1 (human)

A death-associated protein kinase 3 (human) that has been phosphorylated on several Ser residues via activation by DAPK1. UniProtKB:O43293, Ser-309/Ser-311/Ser-312/Ser-318/Ser-326, MOD:00046.


Grade 3 Neck Soft Tissue Necrosis, CTCAE

Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)


Grade 3 Peripheral Motor Nerve NOS Intra-Operative Injury, CTCAE


Central Nervous System Teratoma with Malignant Transformation

A central nervous system teratoma characterized by the presence of a malignant component. The malignant component most often is sarcomatous (rhabdomyosarcoma or undifferentiated sarcoma) or carcinomatous (squamous cell carcinoma or adenocarcinoma).


Sellar Teratoma with Malignant Transformation

A teratoma with malignant transformation that arises from or adjacent to the sellar region.


HIV wasting syndrome

Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).


Stage IA1 Cervical Cancer

Stage IA1 includes: T1a1, N0, M0.  T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 mm or less in horizontal spread.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA Cervical Cancer AJCC v6 and v7

Stage IA includes: IA (T1a, N0, M0); IA1 (T1a1, N0, M0); IA2 (T1a2, N0, M0).  T1a: Invasive carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 or less horizontal spread.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA2 Cervical Cancer

Stage IA2 includes: T1a2, N0, M0.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Machado-Joseph disease type 2

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.


Machado-Joseph disease

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


Machado-Joseph disease type 4

A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.


Machado-Joseph disease type 3

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.


Machado-Joseph disease type 5

A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.


Machado-Joseph disease type 1

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.


DNA polymerase eta

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


DNA polymerase eta isoform 1 (human)

A DNA polymerase eta (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:Q9Y253-1.


DNA polymerase eta isoform h2 (human)

A DNA polymerase eta (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:Q9Y253-2.


DNA polymerase eta ubiquitinated 1 (human)

A DNA polymerase eta (human) that has been post-translationally modified to include ubiquitinated lysine at positions 682, 686, 694 and 709 of the amino acid sequence represented by UniProtKB:Q9Y253. UniProtKB:Q9Y253, Lys-682/Lys-686/Lys-694/Lys-709, MOD:01148.


Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease

Acute graft versus host disease occurring in the gastrointestinal tract that is resistant to treatment with steroids.


Grade 1 Respiratory Tract Hemorrhage NOS, CTCAE


ephrin type-A receptor 1 isoform h2 (human)

An ephrin type-A receptor 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:P21709-2.


ephrin type-A receptor 1 isoform h1 (human)

An ephrin type-A receptor 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:P21709-1.


ephrin type-A receptor 1 isoform h3 (human)

An ephrin type-A receptor 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:P21709-3.


ephrin type-A receptor 1, signal peptide removed form (human)

An ephrin type-A receptor 1 (human) that has had the signal peptide removed. UniProtKB:P21709, 26-976.


high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform hPDE9A2 (human)

A high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A (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:O76083-2.


NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2, initiator methionine removed form (human)

An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (human) that has had the initiator methionine removed. UniProtKB:O43678, 2-99.


parotid disorder

A disease involving the parotid gland.


parotid gland neoplasm

A neoplasm (disease) that involves the parotid gland.


benign neoplasm of parotid gland

A benign neoplasm that involves the parotid gland.


Shock From Lead

Unintended electric shock from patient leads.


voltage-dependent L-type calcium channel subunit alpha-1C isoform h5 (human)

A voltage-dependent L-type calcium channel subunit alpha-1C (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:Q13936-5.


ectopic Cushing syndrome

Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.


ACTH-independent adrenal Cushing syndrome, somatic


ACTH-independent macronodular adrenal hyperplasia 1


Cushing syndrome due to macronodular adrenal hyperplasia

A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


ACTH-independent macronodular adrenal hyperplasia 2

Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.


ACTH-dependent Cushing syndrome

Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).


ACTH-independent Cushing syndrome

Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).


von Willebrand factor N-glycosylated 9 (human)

A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G29279QO. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G29279QO.


tissue-type plasminogen activator N-glycosylated 24 (human)

A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-152 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G92570PJ. Example: UniProtKB:P00750-1, Asn-152, MOD:00160~GNO:G92570PJ.


small conductance calcium-activated potassium channel protein 1 isoform 2 (human)

A small conductance calcium-activated potassium channel protein 1 isoform 2 that is encoded in the genome of human.


calcium-activated calmodulin-binding potassium channel alpha subunit

A calcium-activated potassium channel protein that has amino- and carboxyl-terminal intracellular domains separated by a domain containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. They are subunits of the small conductance calcium-activated channels. SK channels are independent of voltage and gated solely by intracellular calcium. These membrane channels are heteromeric complexes that comprise pore-forming alpha-subunits and the calcium-binding protein calmodulin. Calmodulin binds to the SK channel through the Calmodulin binding domain (Pfam:PF02888), which is located in an intracellular region of the alpha-subunit immediately carboxy-terminal to the pore. Channel opening is triggered when calcium binds the EF hands in the N-lobe of calmodulin. These channels play a crucial role in hyperpolarizing the membrane potential of excitable and nonexcitable cells.


intermediate conductance calcium-activated potassium channel protein 4 isoform 1 (human)

An intermediate conductance calcium-activated potassium channel protein 4 isoform 1 that is encoded in the genome of human.


small conductance calcium-activated potassium channel protein 1

A calcium-activated calmodulin-binding potassium channel alpha subunit that is a translation product of the human KCNN1 gene or a 1:1 ortholog thereof.