Juxta-Articular Myxoma

A rare myxoma that usually arises in an area close to a large joint.  Morphologically it resembles a cellular myxoma.  In contrast to an intramuscular myxoma, it is not associated with mutations of the GNAS gene.


Follicular Myxoma

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A cutaneous myxoma arising from the hair follicle.


Left atrial myxoma

A cardiac myxoma arising from the left atrium.


Cellular Myxoma

An intramuscular myxoma with increased cellularity and increased numbers of collagen fibers and blood vessels.


Grade 4 Leukoencephalopathy, CTCAE

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Life-threatening consequences; extensive T2/FLAIR hyperintensities, involving periventricular white matter involving most of susceptible areas of cerebrum +/- moderate to severe increase in SAS and/or moderate to severe ventriculomegaly


neurofibroma of spinal cord

A neurofibroma that arises from the spinal cord.


adult pure red cell aplasia

Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.


transient erythroblastopenia of childhood

An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.


Abnormal coronary artery physiology

Any anomaly of the function of a coronary artery.


Anti-U3 RNP antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.


Grade 4 Urinary Fistula, CTCAE

Life-threatening consequences; urgent invasive intervention indicated


Grade 3 Paresthesia, CTCAE

Severe symptoms; limiting self care ADL


dense deposit disease

Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.


Membranoproliferative Glomerulonephritis Type 3 (AQ)

Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy.


Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.


Locally Advanced Lung Small Cell Carcinoma

Lung small cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


large B-cell diffuse lymphoma of lacrimal gland

A diffuse large B-cell lymphoma that arises from the lacrimal gland.


intellectual disability, autosomal dominant 39

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.


A 16-hydroxy steroid in which the hydroxy group at position 16 has alpha-configuration.


catechol O-methyltransferase isoform Soluble (rat)

A catechol O-methyltransferase (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:P22734-2.


dextrocardia

A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.


(+)-Sulpiride

An optically active form of sulpiride having (R)-configuration. The active enantiomer of the racemic drug sulpiride.


organic anion

Any organic ion with a net negative charge.


Pyridoxal 5'-phosphate(2-)

The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate.


Salicylate

Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.


Pyridoxamine 5'-phosphate(1-)

An organophosphate oxoanion that is the conjugate base of pyridoxamine 5'-phosphate.


L-asparaginate

An optically active form of asparaginate having L-configuration.


alpha-amino-acid anion

An amino-acid anion obtained by deprotonation of any alpha-amino acid.


Carbamate

Any ester of carbamic acid or its N-substituted derivatives.


carboxylic acid anion

The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated.


Thiamine(1+) triphosphate(4-)

Trianion of thiamine(1+) diphosphate arising from deprotonation of the four OH groups of the triphosphate.


Dianion of pyridoxine 5'-phosphate.


Thiamine(1+) diphosphate(3-)

Dianion of thiamine(1+) diphosphate arising from deprotonation of the three OH groups of the diphosphate.


A pyridoxate that is the conjugate base of 4-pyridoxic acid, obtained by deprotonation of the carboxy group.


Thiamine phosphate

An organophosphate oxoanion that is the conjugate base of thiamine(1+) monophosphate(1-), arising from the deprotonation of the phosphate group. Major microspecies at pH 7.3.


Bone marrow vacuolated lymphocytes

The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.


Lymphoid hyperplasia

An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli.


Megakaryocyte dysplasia

The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.


Increased megakaryocyte colony forming unit count

Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.


Abnormal granulocytopoietic cell morphology

An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.


Abnormality of multiple cell lineages in the bone marrow


Myeloid maturation arrest

Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Bone marrow eosinophilia

Count of eosinophils in the bone marrow above the upper limit of normal.


Myelokathexis

Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Megaloblastic bone marrow

Abnormal increased number of megaloblasts in the bone marrow.


Bone marrow arrest at the promyelocytic stage

A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.


Increased megakaryocyte count

Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.


Granulocytic hypoplasia

Decreased number of granulocyte precursors in the bone marrow.


Increased micromegakaryocyte count

The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.


Megakaryocyte nucleus hypolobulation

The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.


Bone marrow maturation arrest

Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.


Abnormal megakaryocyte morphology

Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.


Abnormality of bone marrow stromal cells


Reduced bone-marrow pro-B cell count

A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.


Megakaryocyte nucleus hyperlobulation

The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.


Abnormal number of granulocyte precursors


Bone marrow xanthomatosis

Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Bone marrow hypercellularity

A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.


Reduced bone-marrow megakaryocyte size

Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.


Megakaryocytopenia

A reduced count of megakaryocytes.


Increased bone marrow iron

An increased amount of iron in the bone marrow.


Increased multinucleated megakaryocyte count

The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.


5'-AMP-activated protein kinase catalytic subunit alpha-2 unphosphorylated 1 (human)

A 5'-AMP-activated protein kinase catalytic subunit alpha-2 unphosphorylated 1 in human. UniProtKB:P54646, Thr-172, PR:000026291.


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform h2 (human)

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, 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:Q15118-2.


conjunctival vascular disorder

A disorder of the vasculature of the cornea.


Fatty casts

A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.


infiltrating bladder urothelial carcinoma sarcomatoid variant

An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.


infiltrating bladder urothelial carcinoma

An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.


lymphoma-like variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma with lymphoma-like features.


plasmacytoid variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma. It is characterized by plasmacytoid-like features.


microcystic variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma. It is characterized by microcysts formation. It is also associated with intracytoplasmic mucin deposits and calcification in cyst walls.


infiltrating bladder urothelial carcinoma, clear cell variant

An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.


nested variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma. It is characterized by a nested growth pattern.


micropapillary variant infiltrating bladder urothelial carcinoma

An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003


infiltrating bladder lymphoepithelioma-like carcinoma

Infiltrating carcinoma with lymphoepithelioma-like features that affects the bladder.


lipid-cell variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.


Cardiovascular System Signs and Symptoms


Innocent Pulmonary Systolic Murmur

An innocent murmur with a medium pitched, harsh character heard at the left middle and left upper sternal border that disappears with upright position. (ACC/AHA)


Innocent Murmur

A clinical finding in which turbulent flow is noted by auscultation that is not associated with any structural cardiac defects. (ACC/AHA)


Physiologic Pulmonary Artery Stenosis Murmur

An innocent murmur with a medium or high pitched, blowing character heard at the left middle sternal border that can also be heard at the same volume across the precordium and back that does not disappear with maneuvers but is only heard in infants less than six months of age. (ACC/AHA)


Stable angina

Angina pectoris which has not recently changed in frequency, duration or intensity. Stable angina pectoris is relieved by rest or administration or oral, sublingual or transdermal antianginal medications.


Pathologic Murmur

A clinical finding in which turbulent flow is noted by auscultation that is associated with a structural cardiac defect. (ACC/AHA)


Still's Murmur

An innocent murmur with a medium pitched, vibratory character heard at the apex, left lower sternal border, left middle sternal border, and right upper sternal border that disappears or becomes quieter and localizes to the left lower sternal border on upright position. (ACC/AHA)


Cardiovascular Manifestation

Patient complaints (symptoms), physical/laboratory findings(signs) related to the cardiovascular system.


Atypical angina

Angina pectoris which does not have associated classical symptoms of chest pain. Symptoms may include weakness, nausea, or sweating.


Venous Hum

An innocent murmur with a medium pitched, blowing character with diastolic accentuation heard at the right or left upper sternal border that disappears with jugular venous compression or supine position. (ACC/AHA)


Mammary Souffle

An innocent murmur with a medium or high pitched, blowing character with continuous flow with systolic accentuation heard over or above the breasts that disappears with compression of the breast tissue. (ACC/AHA)


Abnormal axonemal organization of respiratory motile cilia

Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.


Libman-Sacks endocarditis

An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


marantic endocarditis

Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).


subacute bacterial endocarditis

Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.


polyp of sphenoidal sinus

A polyp that involves the sphenoidal sinus.


cytokine receptor common subunit gamma, signal peptide removed form (human)

A cytokine receptor common subunit gamma (human) that has had the signal peptide removed. UniProtKB:P31785, 23-369.


Limited neck extension

Reduced abilty to move the head back towards the ceiling so that one is looking upwards.


Stiff neck

A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.


Nuchal rigidity

Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.


Limited neck flexion

Reduced abilty to lower the chin towards the chest by bending the neck.


Limited head rotation

Reduced range of motion turning the head side to side.


Limited lateral neck flexion

Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.


vitamin D-dependent rickets, type 1

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


Grade 3 Hearing Patients without Baseline Audiogram and Not Enrolled in a Monitoring Program, CTCAE


autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).


Periodic hypokalemic paresis

Episodes of muscle weakness associated with reduced levels of potassium in the blood.


periodic paralysis

Episodes of muscle weakness.


Grade 2 Biliary Tract Infection, CTCAE

Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)


hypotrichosis 3

Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.


acute hemorrhagic conjunctivitis

Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

Keratoconjunctivitis resulting from infection by adenoviruses.


Grade 5 Prostate Infection with Unknown Absolute Neutrophil Count, CTCAE


protein tyrosine phosphatase type IVA 3

A protein that is a translation product of the human PTP4A3 gene or a 1:1 ortholog thereof.


protein tyrosine phosphatase type IVA 3 isoform 1 (human)

A protein tyrosine phosphatase type IVA 3 isoform 1 that is encoded in the genome of human.


protein tyrosine phosphatase type IVA 3 isoform h2 (human)

A protein tyrosine phosphatase type IVA 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:O75365-2.


protein tyrosine phosphatase type IVA 3 isoform h3 (human)

A protein tyrosine phosphatase type IVA 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:O75365-3.


congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


spindle cell sarcoma

A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.


spindle cell synovial sarcoma

A synovial sarcoma characterized by the presence of a spindle cell component only.


intimal sarcoma

A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


childhood spindle cell rhabdomyosarcoma

A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


spindle cell liposarcoma

A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.


Abnormality of the alveolar ridges

Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.


Alveolar process hypoplasia

Underdevelopment of the alveolar process (also known as alveolar bone).


Bilateral alveolar cleft of maxilla

Nonmidline alveolar cleft of the maxilla.


Complete cleft maxillary alveolar ridge

Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.


Incomplete cleft maxillary alveolar ridge

Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.


Fibrous syngnathia

Complete or nearly complete soft tissue fusion of the alveolar ridges.


Cleft maxillary alveolar ridge

A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.


Alveolar ridge overgrowth

Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

One sided alveolar cleft of the maxilla.


cervical fibroepithelial polyp

A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


lathosterolosis

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


sterol biosynthesis disorder

An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.


desmosterolosis

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


Greenberg dysplasia

A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.


X-linked chondrodysplasia punctata 2

A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


X-linked chondrodysplasia punctata

X-linked form of chondrodysplasia punctata.


CHILD syndrome

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 1

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.


Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.


cholesterol biosynthetic process disease

A disease that has its basis in the disruption of cholesterol biosynthetic process.


hyperimmunoglobulinemia D with periodic fever

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).


Recurrent Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted

The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.


xeroderma pigmentosum, autosomal dominant, mild


neuronopathy, distal hereditary motor, type 5A


T-lymphocyte activation antigen CD86 isoform h6 (human)

A T-lymphocyte activation antigen CD86 (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:P42081-6.


Pfeiffer syndrome type 3

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.


Pfeiffer syndrome

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


Pfeiffer syndrome type 2

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.


Pfeiffer syndrome type 1

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.


Grade 4 Colon or Cecum or Appendix Fistula, CTCAE


3p- syndrome

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.


partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.


Increased lymphocyte apoptosis

A elevation in the rate of apoptosis in lymphocytes.


Reduced CD95-induced lymphocyte apoptosis

Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.


Abnormal lymphocyte apoptosis

A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.


Decreased lymphocyte apoptosis

A reduction in the rate of apoptosis in lymphocytes.


Small intestinal lymphoplasmacytic infiltrate

Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.


Grade 2 Hypomagnesemia, CTCAE

<1.2-0.9 mg/dL; <0.5-0.4 mmol/L


severe X-linked mitochondrial encephalomyopathy

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.


Heberden's node

Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.


hereditary multiple osteochondromas

A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.


bilateral acute depigmentation of the iris

Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.


nephrotic syndrome, type 12

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


Childhood Small Intestinal Carcinoma

A small intestinal carcinoma occurring in childhood.


Childhood Malignant Small Intestinal Neoplasm

A rare malignant small intestinal neoplasm that occurs during childhood.


Childhood Small Intestinal Leiomyosarcoma

A small intestinal leiomyosarcoma occurring in childhood.


Absence of subcutaneous fat

Lack of subcutaneous adipose tissue.


Loss of truncal subcutaneous adipose tissue

Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.


combined oxidative phosphorylation defect type 9

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.


trifunctional purine biosynthetic protein adenosine-3 isoform Short (human)

A trifunctional purine biosynthetic protein adenosine-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:P22102-2.


Hyperinsulinism in the Infant of a Diabetic Mother

Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.


Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


Complete Hearing Loss

Total inability to hear sounds in one or both ears.


acinar prostate mucinous adenocarcinoma

A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.


Grade 5 Ureter Stricture or Stenosis, CTCAE


malignant struma ovarii

An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).


teratoma with malignant transformation

A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.


CAMOS syndrome

CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.


Increased proportion of exhausted T cells

An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.


NADH dehydrogenase [ubiquinone] 1 subunit C2

A protein that is a translation product of the human NDUFC2 gene or a 1:1 ortholog thereof.


NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3 (human)

An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-1.


NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 5 (human)

An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-3.


NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 4 (human)

An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-2.


sebaceous basal cell carcinoma

A basal cell carcinoma of the skin that is characterized by sebaceous differentiation.


DNA-directed RNA polymerase subunit beta

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


DNA-directed RNA polymerase subunit beta isoform 1 (Escherichia coli K-12)

A DNA-directed RNA polymerase subunit beta isoform 1 that is encoded in the genome of Escherichia coli K-12.


DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 (Escherichia coli K-12)

A DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 in Escherichia coli K-12. UniProtKB:P0A8V2-1, Lys-1022/Lys-1200, MOD:00064.


G protein-coupled receptor kinase 6 isoform GRK6A (human)

A G protein-coupled receptor kinase 6 isoform 1 that is encoded in the genome of human.


Mitral valve leaflet calcification

Deposition of calcium salts in the leaflets (cusps) of the mitral valve.


Cleft anterior mitral valve leaflet

Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.


Supramitral ring

A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.


Mitral annular calcification

Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.


Mitral chordae tendinae rupture

Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.


Short chordae tendineae of the mitral valve

Abnormally short chordae tendineae of the mitral valve.


mitral atresia disorder

A congenital heart defect characterized by the complete atresia of the mitral valve.


Abnormal mitral valve annulus morphology

Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Myxomatous mitral valve degeneration

Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.


Mitral valve arcade

Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.


congenital mitral stenosis

Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure.


Abnormal mitral valve leaflet morphology

Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.


Abnormal morphology of the chordae tendinae of the mitral valve

A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.


Parachute mitral valve

Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.


Dilatation of the mitral annulus

An increase in the diameter of the ring (annulus) of the mitral valve.


Abnormal mitral valve morphology

Any structural anomaly of the mitral valve.


double-orifice mitral valve

The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.


Elongated chordae tendinae of the mitral valve

Abnormal increased in length of the chordae tendinae of the mitral valve.


testicular seminoma

A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.


tubular variant testicular seminoma

A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.


pseudoglandular variant testicular seminoma

A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.


spermatocytic seminoma

A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.


cribriform variant testicular seminoma

A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.


Patchy sclerosis of the middle phalanx of the 4th finger

Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.


Sclerosis of the middle phalanx of the 4th finger


serotransferrin N-glycosylated 35 (human)

A serotransferrin (human) that has been N-glycosylated at the residue equivalent to Asn-630 of the amino acid sequence represented by UniProtKB:P02787-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P02787-1, Asn-630, MOD:00160~GNO:G36191CD.


immunoglobulin heavy constant gamma 1

A protein that is a translation product of the human IGHG1 gene or a 1:1 ortholog thereof.


immunoglobulin heavy constant gamma 1 N-glycosylated 32 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G60923RB.


immunoglobulin heavy constant gamma 1 N-glycosylated 40 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G72791KH. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G72791KH.


immunoglobulin heavy constant gamma 1 N-glycosylated 30 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G59626AS.


immunoglobulin heavy constant gamma 1 N-glycosylated 47 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G85582CB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G85582CB.


immunoglobulin heavy constant gamma 1 N-glycosylated 51 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G90734RJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G90734RJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 5 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G08293MJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 21 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G44953PJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G44953PJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 52 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G95865ZB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G95865ZB.


immunoglobulin heavy constant gamma 1 N-glycosylated 33 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G61855PQ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G61855PQ.


immunoglobulin heavy constant gamma 1 N-glycosylated 25 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G52162PS. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G52162PS.


immunoglobulin heavy constant gamma 1 N-glycosylated 17 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G35029YA. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G35029YA.


immunoglobulin heavy constant gamma 1 N-glycosylated 34 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G65184UU. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G65184UU.


immunoglobulin heavy constant gamma 1 N-glycosylated 14 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G25987BV. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G25987BV.


immunoglobulin heavy constant gamma 1 N-glycosylated 10 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G12580WI.


immunoglobulin heavy constant gamma 1 N-glycosylated 18 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G36191CD.


immunoglobulin heavy constant gamma 1 N-glycosylated 7 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G10339FR. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G10339FR.


immunoglobulin heavy constant gamma 1 N-glycosylated 6 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G09197ZW. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G09197ZW.


immunoglobulin heavy constant gamma 1 N-glycosylated 8 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G10486CT.


immunoglobulin heavy constant gamma 1 N-glycosylated 16 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G30159WR. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G30159WR.


immunoglobulin heavy constant gamma 1 N-glycosylated 44 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G83555HU.


immunoglobulin heavy constant gamma 1 N-glycosylated 35 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G72790NZ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G72790NZ.


immunoglobulin heavy constant gamma 1 N-glycosylated 13 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G25520XG. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G25520XG.


immunoglobulin heavy constant gamma 1 N-glycosylated 23 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G49955PK. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G49955PK.


immunoglobulin heavy constant gamma 1 N-glycosylated 50 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G88725PI. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G88725PI.


immunoglobulin heavy constant gamma 1 N-glycosylated 36 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G67324HN. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G67324HN.


immunoglobulin heavy constant gamma 1 N-glycosylated 37 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G68318VE. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G68318VE.


immunoglobulin heavy constant gamma 1 N-glycosylated 3 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G02886BB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G02886BB.


immunoglobulin heavy constant gamma 1 N-glycosylated 48 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G85740DB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G85740DB.


immunoglobulin heavy constant gamma 1 N-glycosylated 9 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G11254FL. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G11254FL.


immunoglobulin heavy constant gamma 1 N-glycosylated 31 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G59937CP. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G59937CP.


immunoglobulin heavy constant gamma 1 N-glycosylated 20 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G40834TG. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G40834TG.


immunoglobulin heavy constant gamma 1 N-glycosylated 11 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G22674CI. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G22674CI.


immunoglobulin heavy constant gamma 1 N-glycosylated 22 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G45504EY. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G45504EY.


immunoglobulin heavy constant gamma 1 N-glycosylated 28 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G57317CE.


immunoglobulin heavy constant gamma 1 N-glycosylated 46 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G83646BJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G83646BJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 24 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G50073PQ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G50073PQ.


immunoglobulin heavy constant gamma 1 N-glycosylated 43 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G80858MF. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G80858MF.


immunoglobulin heavy constant gamma 1 N-glycosylated 42 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G80475RE. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G80475RE.


immunoglobulin heavy constant gamma 1 N-glycosylated 49 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G88374WZ.


immunoglobulin heavy constant gamma 1 N-glycosylated 2 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G02815KT. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G02815KT.


immunoglobulin heavy constant gamma 1 N-glycosylated 27 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G72787SB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G72787SB.


immunoglobulin heavy constant gamma 1 N-glycosylated 19 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G39213VZ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G39213VZ.


immunoglobulin heavy constant gamma 1 N-glycosylated 15 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G28603RA. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G28603RA.


immunoglobulin heavy constant gamma 1 N-glycosylated 4 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G57776ZU. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G57776ZU.


immunoglobulin heavy constant gamma 1 N-glycosylated 1 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G00912UN.


immunoglobulin heavy constant gamma 1 N-glycosylated 45 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G83633GK. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G83633GK.


immunoglobulin heavy constant gamma 1 N-glycosylated 26 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G54600FO. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G54600FO.


immunoglobulin heavy constant gamma 1 N-glycosylated 41 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G78059CC.


immunoglobulin heavy constant gamma 1 N-glycosylated 12 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G25079LO. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G25079LO.


eIF-2-alpha kinase GCN2 isoform h1 (human)

An eIF-2-alpha kinase GCN2 (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:Q9P2K8-1.


Grade 5 Hematosalpinx, CTCAE

Death


bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1 (human)

A bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1 that is encoded in the genome of human.


serine/threonine-protein kinase Nek2 isoform h3 (human)

A serine/threonine-protein kinase Nek2 (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:P51955-3.


Orocutaneous fistula

An abnormal communication between the skin and the oral cavity.


Myeloblasts 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts 10 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 10 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 60 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts More than 60 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts More than 20 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 20-30 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Lymphoblasts 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


Blasts More than 10 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Myeloblasts 10 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


sodium- and chloride-dependent GABA transporter 1 isoform 1 (rat)

A sodium- and chloride-dependent GABA transporter 1 isoform 1 that is encoded in the genome of rat.


Segmental peripheral demyelination

A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.


Patchy demyelination of subcortical white matter

Patchy loss of myelin from nerve fibers in the central nervous system.


Abnormal central microtubular pair morphology of respiratory motile cilia

A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.


Absent central microtubular pair morphology of respiratory motile cilia

Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.


Symmetrical progressive peripheral demyelination

A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Diffuse demyelination of the cerebral white matter

A diffuse loss of myelin from nerve fibers in the central nervous system.


Abnormal respiratory motile cilium morphology

Abnormal arrangement of the structures of the motile cilium.


A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.


Symmetric peripheral demyelination

A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Asymmetric peripheral demyelination

Loss of myelin from peripheral nerves in a pattern that differs between right and left.


Spinal cord posterior columns myelin loss


Cerebral hypomyelination

Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.


Absent inner dynein arms

Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


Absent inner and outer dynein arms

Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


CNS demyelination

A loss of myelin from nerve fibers in the central nervous system.


Diffuse peripheral demyelination

A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Dynein arm defect of respiratory motile cilia

An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.


Severe demyelination of the white matter

A severe loss of myelin from nerve fibers in the central nervous system.


Absent outer dynein arms

Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


Peripheral demyelination

A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Absent respiratory ciliary axoneme radial spokes

Absence of the radial spokes of the axoneme of the respiratory cilium.


Sensory axonal neuropathy

An axonal neuropathy of peripheral sensory nerves.


vitamin K-dependent protein C N-glycosylated 25 (human)

A vitamin K-dependent protein C (human) that has been N-glycosylated at the residue equivalent to Asn-355 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan structure is represented by GlyTouCan:G42440OJ. Example: UniProtKB:P04070-1, Asn-355, MOD:00160~GNO:G42440OJ.


Stage II Urethral Cancer AJCC v7

Stage II includes: T2, N0, M0.  T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Urethral Cancer by AJCC v7 Stage

A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 7th edition.


Stage I Urethral Cancer AJCC v7

Stage I includes: T1, N0, M0.  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)


Stage 0 Urethral Cancer AJCC v7

Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0); (Tis pu, N0, M0); (Tis pd, N0, M0).  Ta: Noninvasive papillary, polypoid, or verrucous carcinoma.  Tis: Carcinoma in situ.  Tis pu: Carcinoma in situ, involvement of the prostatic urethra.  Tis pd: Carcinoma in situ, involvement of the prostatic ducts.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


carcinoma in situ of urethra

A in situ carcinoma that involves the urethra.


Stage IV Urethral Cancer AJCC v7

Stage IV includes: (T4, N0, M0); (T4, N1, M0); (Any T, N2, M0), (Any T, Any N, M1).  T4: Tumor invades other adjacent organs.  N0: No regional lymph node metastasis.  N1: Metastasis in a single lymph node 2 cm or less in greatest dimension.  N2: Metastasis in a single lymph node more than 2 cm in greatest dimension, or in multiple lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis.  (AJCC 7th ed.)


Stage 0a Urethral Cancer AJCC v7

Stage 0a includes: Ta, N0, M0.  Ta: Noninvasive papillary, polypoid, or verrucous carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage III Urethral Cancer AJCC v7

Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0), (T3, N1, M0).  T1: Tumor invades subepithelial connective tissue.  T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle.  T3: Tumor invades any of the following: corpus cavernosum, beyond prostatic capsule, anterior vagina, bladder neck.  N1: Metastasis in a single lymph node 2 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Gallbladder Undifferentiated Carcinoma, Spindle and Giant Cell Type

An undifferentiated carcinoma that arises from the gallbladder.  It is characterized by the presence of spindle and giant malignant cells, including osteoclast-like giant cells.


Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 5 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 2 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 4 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 3 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 1 Duodenal Obstruction, CTCAE

Asymptomatic; clinical or diagnostic observations only; intervention not indicated


A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.


Optic ataxia

Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.


Chronic active Epstein-Barr virus infection

Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.


FGFR2B Overexpression

An indication that overexpression of FGFR2B has been detected in a sample.


Aplastic nasopharyngeal adenoids

Absence of the nasopharyngeal adenoids as a developmental defect.


chondrodysplasia punctata, brachytelephalangic, autosomal


autosomal dominant chondrodysplasia punctata

Autosomal dominant form of chondrodysplasia punctata.


chondrodysplasia punctata, tibial-metacarpal type


Broad phalanges of the hand

Increased width of the phalanges of the hand.


Broad distal phalanx of the thumb

Increased width of the distal phalanx of thumb.


Broad 1st metacarpal

Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Spatulate thumbs

Spoon-shaped, broad thumbs.


Broad hallux phalanx

An increase in width in one or more phalanges of the big toe.


Broad middle phalanx of the 4th finger

Increased width of the middle phalanx of the 4th finger.


Broad metatarsal

Increased side-to-side width of a metatarsal bone.


Broad phalanges of the 3rd finger

Increased width of the phalanges of the 3rd finger.


Broad proximal phalanx of the 3rd finger

Increased width of the proximal phalanx of the 3rd finger.


Broad middle phalanx of the 2nd finger

Increased width of the middle phalanx of the second finger.


Broad radial metaphysis

Increase in width (breadth) of the radial metaphysis.


Broad clavicles

Increased width (cross-sectional diameter) of the clavicles.


Broad distal phalanx of finger

Abnormally wide (broad) distal phalanx of finger.


Broad first metatarsal

Increased side-to-side width of the first metatarsal bone.


Broad distal phalanx of the hallux

An increase in width of the distal phalanx of the big toe.


Broad phalanx

Increased side-to-side width of one or more phalanges of the fingers or toes.


Bulbous tips of toes

An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.


Broad phalanges of the 4th finger

Increased width of the phalanges of the 4th finger.


Broad phalanx of the toes

Increased width of phalanx of one or more toes.


Broad proximal phalanges of the hand

Increased width of the proximal phalanges of the finger.


Broad ulna

Increased width of the ulna.


Broad proximal phalanx of the hallux

Increased width of proximal phalanx of big toe.


Broad middle phalanx of finger

Increased width of the middle phalanx of finger.


Broad proximal phalanx of the thumb

Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Broad distal phalanx of the 5th finger

Increased width of the distal phalanx of the 5th finger.


Broad metacarpals

Abnormally broad metacarpal bones.


Broad proximal phalanx of the 4th finger

Increased width of the proximal phalanx of the 4th finger.


Broad distal phalanx of the 4th finger

Increased width of the distal phalanx of the 4th finger.


Broad proximal phalanx of the 5th finger

Increased width of the proximal phalanx of the 5th finger.


Expanded phalanges with widened medullary cavities


Broad proximal phalanx of toe

An increase in width of one ore more proximal toe phalanges.


Increased fibular diameter

Increased width of the cross sectional diameter of the fibula.


Broad phalanges of the 5th finger

Increased width of the phalanges of the 5th finger.


Broad middle phalanx of the 5th finger

Increased width of the middle phalanx of the 5th finger.


Broad radius

Increased width of the radius.


Broad middle phalanx of the 3rd finger

Increased width of the middle phalanx of the 3rd finger.


Broad proximal phalanx of the 2nd finger

Increased width of the proximal phalanx of the 2nd finger.


Broad distal phalanx of the toes

Increased width of the distal phalanx of toe of one or more toes.


Broad distal phalanx of the 2nd finger

Increased width of the distal phalanx of the 2nd finger.


Broad distal phalanx of the 3rd finger

Increased width of the distal phalanx of the 3rd finger.


Broad distal phalanges of all fingers

Abnormally wide (broad) distal phalanx of finger of all fingers.


Broad thumb

Increased thumb width without increased dorso-ventral dimension.


Abnormal sixth cranial nerve morphology

Any structural abnormality of the abducens nerve.


hemoglobin D disease

Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).


solute carrier family 2, facilitated glucose transporter member 2 isoform h2 (human)

A solute carrier family 2, facilitated glucose transporter member 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:P11168-2.


functioning pituitary gland neoplasm

A hormone producing pituitary gland tumor, associated with a hormonal syndrome.


TSH producing pituitary tumor

An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.


TSH-secreting pituitary adenoma

A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.


functioning pituitary gland adenoma

A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.


Nelson syndrome

A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.


malignant thyroid stimulating hormone producing neoplasm of pituitary gland

A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.


functioning gonadotropic adenoma

Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).


Stage II Acral Lentiginous Melanoma AJCC v6 and v7

Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0).  T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration.  T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration.  T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration.  T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration.  T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration.  N0: No regional lymph node metastases.  M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Ed.)


Grade 2 Neck Pain, CTCAE

Moderate pain; limiting instrumental ADL


cyclin-dependent kinase 8 isoform 1 (human)

A cyclin-dependent kinase 8 isoform 1 that is encoded in the genome of human.


serine/threonine-protein kinase tousled-like 1 isoform 1 (human)

A serine/threonine-protein kinase tousled-like 1 isoform 1 that is encoded in the genome of human.


progressive relapsing multiple sclerosis

A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.


Cutaneous stenosis of the external auditory canal


Metastatic Malignant Neoplasm to the Thyroid

A malignant neoplasm either directly extending to the thyroid gland from adjacent structures (e.g. pharynx, larynx, esophagus, cervical lymph nodes), or spreading to the thyroid gland from distant anatomic sites, most frequently kidney, lung, uterus, breast, and skin.  The majority of cases are carcinomas, lymphomas, and melanomas.


Metastatic malignant neoplasm to neck

A malignant neoplasm that has spread to the neck region from a malignancy in a local or distant anatomic site.


Metastatic malignant neoplasm to parathyroid gland

A malignant neoplasm either directly extending to the parathyroid glands from adjacent anatomic structures, or spreading to the parathyroid glands from distant anatomic sites, most frequently breast, lung, kidney, soft tissues, and skin.


Neck Carcinoma of Unknown Primary

A carcinoma that has metastasized to the neck region from an unknown primary anatomic site.


Metastatic malignant neoplasm to nasopharynx

A malignant neoplasm that has spread to the nasopharynx from another anatomic site.


Metastatic malignant neoplasm to oropharynx

A malignant neoplasm that has spread to the oropharynx from another anatomic site.


Metastatic malignant neoplasm to hypopharynx

A malignant neoplasm that has spread to the hypopharynx from another anatomic site.


Metastatic malignant neoplasm to larynx

A malignant neoplasm that has spread to the larynx from another anatomic site.


Neck Squamous Cell Carcinoma of Unknown Primary

A squamous cell carcinoma that has metastasized to the neck region from an unknown primary anatomic site.


Metastatic malignant neoplasm to pharynx

A malignant neoplasm that has spread to the pharynx from another anatomic site.


Recurrent Neck Squamous Cell Carcinoma of Unknown Primary

The reemergence of metastatic squamous cell carcinoma of unknown primary in the neck region after a period of remission.


Hypoplastic iris stroma

Underdevelopment of the stroma of iris.


icosanoid

Any member of the group of signalling molecules arising from oxidation of the three C20 essential fatty acids (EFAs) icosapentaenoic acid (EPA), arachidonic acid (AA) and dihomo-gamma-linolenic acid (DGLA).


Prostaglandin

Naturally occurring compounds derived from the parent C20 acid, prostanoic acid.


prostanoid

The family of natural prostaglandins and prostaglandin-like compounds including prostacyclins and thromboxanes.


Brown-Vialetto-van Laere syndrome 1

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.


Pelvic girdle amyotrophy

Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.


Amyotrophy of the musculature of the pelvis

Muscular atrophy affecting the muscles of the pelvis.


intravascular fasciitis

A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. 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 IV Major Salivary Gland Carcinoma with Metastasis

Stage IV carcinoma of the major salivary glands with regional lymph nodes and/or distant metastases.


Cervical Micropapillary Adenocarcinoma

A rare, invasive adenocarcinoma that arises from the cervix and is characterized by a micropapillary architecture.


A steroid glucosiduronic acid that is calcitriol in which the hydroxy hydrogen at position 25 has been replaced by a beta-D-glucuronyl residue.


Late Stillbirth

Delivery of a dead fetus greater than 28 weeks gestational age and/or greater than 1,000 grams birth weight.


Pathologic Stage IVB Gastroesophageal Junction Adenocarcinoma AJCC v8

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


Gastroesophageal Junction Adenocarcinoma by AJCC v8 Pathologic Stage

A term that refers to the pathologic staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.


Pathologic Stage IIIB Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IIIB includes: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IA Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IA includes: (T1a, N0, M0, G1); (T1a, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)


Pathologic Stage IIIA Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IIIA includes: (T1, N2, M0, Any G); (T2, N1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage 0 Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage 0 includes: Tis, N0, M0, GN/A. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)


Pathologic Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IIA includes: (T2, N0, M0, G3); (T2, N0, M0, GX). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


Pathologic Stage I Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage I includes: IA: (T1a, N0, M0, G1); (T1a, N0, M0, GX); IB: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX); IC: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


Pathologic Stage II Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage II includes: IIA: (T2, N0, M0, G3); (T2, N0, M0, GX); IIB: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


Pathologic Stage III Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage III includes: IIIA: (T1, N2, M0, Any G); (T2, N1, M0, Any G); IIIB: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IC Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IC includes: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


Pathologic Stage IVA Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IVA includes: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIB Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IIB includes: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IV Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IV includes: IVA: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G); IVB: (Any T, Any N, M1, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Pathologic Stage IB Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IB includes: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. (AJCC 8th ed.)


Refractory High Grade Burkitt-Like Lymphoma

High grade B-cell lymphoma Burkitt-like lymphoma resistant to treatment.


Recurrent High Grade Burkitt-Like Lymphoma

The reemergence of high grade B-cell lymphoma Burkitt-like lymphoma after a period of remission.


Stage II High Grade Adult Non-Hodgkin's Lymphoma


Stage II High Grade Burkitt-Like Lymphoma

Stage II NHL means involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)


High Grade B-Cell Non-Hodgkin's Lymphoma


Stage I High Grade Burkitt-Like Lymphoma

Stage I NHL means involvement of a single lymph node region (I) or localized involvement of a single extralymphatic organ or site (IE). (from PDQ)


Recurrent High Grade Adult Non-Hodgkin's Lymphoma


Stage IV High Grade Adult Non-Hodgkin's Lymphoma


Stage IV High Grade Burkitt-Like Lymphoma

Stage IV NHL means disseminated (multifocal) involvement of one or more extralymphatic sites with or without associated lymph node involvement or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (from PDQ)


Stage III High Grade Adult Non-Hodgkin's Lymphoma


Stage I High Grade Adult Non-Hodgkin's Lymphoma


Stage III High Grade Burkitt-Like Lymphoma

Stage III NHL means involvement of lymph node regions on both sides of the diaphragm (III) that may also be accompanied by localized involvement of an extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or both (IIIS+E). (from PDQ)


High Grade Burkitt-Like Lymphoma

A high grade B-cell lymphoma showing greater pleomorphism in nuclear size and shape than the classical Burkitt lymphoma.


Patchy sclerosis of the proximal phalanx of the 3rd toe


Stage IVB Esophageal Squamous Cell Carcinoma


sodium/nucleoside cotransporter 1 isoform h2 (human)

A sodium/nucleoside cotransporter 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:O00337-2.


lymphangioleiomyomatosis

A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.


chronic sphenoidal sinusitis

Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


A phytocannabinoid that is Delta(9)-tetrahydrocannabinol in which the C-11 methyl has been fully oxidised to a carboxy group. Further enzymatic oxidation product of 11-hydroxy-Delta(9)-tetrahydrocannabinol.


short transient receptor potential channel 6 isoform h1 (human)

A short transient receptor potential channel 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y210-1.


short transient receptor potential channel 6

A transient receptor potential cation channel TRPC3/6/7 that is a translation product of the human TRPC6 gene or a 1:1 ortholog thereof.


short transient receptor potential channel 6 isoform h3 (human)

A short transient receptor potential channel 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y210-3.


short transient receptor potential channel 6 N-glycosylated 2 (human)

A short transient receptor potential channel 6 (human) that has been N-glycosylated at the residue equivalent to Asn-473 of the amino acid sequence represented by UniProtKB:Q9Y210-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:Q9Y210-1, Asn-473, MOD:00160~GNO:G12580WI.


short transient receptor potential channel 6 N-glycosylated 1 (human)

A short transient receptor potential channel 6 (human) that has been N-glycosylated at the residue equivalent to Asn-473 of the amino acid sequence represented by UniProtKB:Q9Y210-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:Q9Y210-1, Asn-473, MOD:00160~GNO:G08293MJ.


short transient receptor potential channel 6 isoform h2 (human)

A short transient receptor potential channel 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y210-2.


Benign Nasolacrimal Duct Neoplasm

A non-metastasizing neoplasm that arises from the lacrimal duct.


Hodgkin lymphoma, nodular sclerosis, cellular phase

A nodular sclerosis Hodgkin lymphoma characterized by the presence of lacunar cells, nodular growth, and the absence of fibrosis.


troponin C, slow skeletal and cardiac muscles isoform 1 (human)

A troponin C, slow skeletal and cardiac muscles isoform 1 that is encoded in the genome of human.


Unresectable Cervical Adenosquamous Carcinoma

Cervical adenosquamous carcinoma that is not amenable to surgical resection.


Scapular winging

Abnormal protrusion of the scapula away from the surface of the back.


splicing factor 3B subunit 3 isoform h3 (human)

A splicing factor 3B subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15393-3.


Vesicovaginal fistula

The presence of a fistula connecting the urinary bladder to the vagina.


Rectoperineal fistula

The presence of a fistula between the perineum and the rectum.


Urethrovaginal fistula

The presence of a fistula between the vagina and the urethra.


H-type rectovestibular fistula

Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.


Perineal fistula

The presence of a fistula between the bowel and the perineum.


Anoperineal fistula

The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.


Urachus fistula

Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.


Rectourethral fistula

An abnormal connection (fistula) between the rectum and the urethra.


Rectovaginal fistula

The presence of a fistula between the vagina and the rectum.


Rectoureteral fistula

An abnormal connection (fistula) between the rectum and the ureter.


Rectovestibular fistula

A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.


Rectal fistula

The presence of a fistula affecting the rectum.


Bladder fistula

The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.


Colovesical fistula

An aberrant, pathological communication between the colon and the bladder.


Urethral fistula

The presence of an abnormal connection between the urethra and another organ or the skin.


Rectovesical fistula

An aberrant, pathological communication between the rectum and the bladder.


Grade 5 Pulmonary Hypertension, CTCAE

Death


Recurrent Unspecified Lung Carcinoma

Lung carcinoma that has re-emerged after a period of remission.


Large cell lung cancer recurrent

The reemergence of large cell lung carcinoma after a period of remission.


Recurrent Lung Non-Small Cell Squamous Carcinoma

The reemergence of lung squamous non-small cell carcinoma after a period of remission.


Recurrent Bronchogenic Carcinoma

The reemergence of bronchogenic carcinoma after a period of remission.


Recurrent Lung Non-Squamous Non-Small Cell Carcinoma

The reemergence of non-squamous non-small cell lung carcinoma after a period of remission.


Adenosquamous cell lung cancer recurrent

The reemergence of adenosquamous lung carcinoma after a period of remission.


Lung adenocarcinoma recurrent

The re-emergence of lung adenocarcinoma after a period of remission.


Small cell lung cancer recurrent

The reemergence of small cell carcinoma of the lung after a period of remission.


Lung squamous cell carcinoma recurrent

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


Recurrent Extensive Stage Lung Small Cell Carcinoma

Extensive stage small cell lung carcinoma that has reemerged after a period of remission.


pituitary gland basophilic carcinoma

A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.