autosomal recessive cutis laxa type 2B

description: Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.


RIN2 syndrome

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

description: RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.


name: cutis laxa, autosomal recessive, type 1d


PYCR1-related de Barsy syndrome

description: Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


autosomal recessive cutis laxa type 2A

description: An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.


autosomal recessive cutis laxa type 1

description: Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).


cutis laxa, autosomal dominant 2

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


autosomal recessive cutis laxa type 2C

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.


name: pancreatic alpha-amylase isoform h1 (human)

description: A pancreatic alpha-amylase (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:P04746-1.


calcium phosphate

A calcium salt composed of calcium and phosphate/diphosphate ions; present in milk and used for the mineralisation of calcified tissues.


Paratesticular Leiomyosarcoma

description: A leiomyosarcoma that arises from the paratesticular region.


name: mu-type opioid receptor isoform r7 (rat)

description: A mu-type opioid receptor (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:P33535-7.


Grade 2 Rash Pustular, CTCAE

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

description: Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)


Rash Pustular, CTCAE

description: A disorder characterized by a circumscribed and elevated skin lesion filled with pus.


Grade 3 Rash Pustular, CTCAE

description: IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated


Grade 5 Rectal Fistula, CTCAE

description: Death


name: cellular congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.


name: microcephaly 22, primary, autosomal recessive


name: chromosome Xp11.23-p11.22 duplication syndrome

description: A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.


chromosome X disorder

description: Chromosomal disorder in which chromosome X is affected.


name: paternal uniparental disomy of chromosome X


description: X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.


name: maternal uniparental disomy of chromosome X


name: X-linked diffuse leiomyomatosis-Alport syndrome

description: A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.


name: partial duplication of the long arm of chromosome X

description: Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.


name: partial monosomy of the short arm of chromosome X


Xq27.3q28 duplication syndrome

description: Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.


name: X-linked acrogigantism due to Xq26 microduplication


49,XXXYY syndrome

description: 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.


tetrasomy X

description: Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).


name: partial deletion of the long arm of chromosome X


Xq12-q13.3 duplication syndrome

description: Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.


Xp22.3 microdeletion syndrome

description: Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.


X small rings

description: X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.


name: atypical Norrie disease due to monosomy Xp11.3

description: Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.


distal Xq28 microduplication syndrome

description: Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.


description: X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.


name: partial duplication of the short arm of chromosome X


Vaginal Germ Cell Tumor

description: A germ tumor that arises from the vagina.


Vaginal Dermoid Cyst

description: A rare benign cystic teratoma that arises from the vagina. It presents as a slow growing cyst in the vaginal wall that contains sebaceous material and hair. The cyst is lined by squamous epithelium. Skin adnexal structures and sometimes smooth and skeletal muscle are present.


name: Grade 3 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


name: Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


name: Grade 2 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


name: Grade 5 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


name: Grade 4 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 2 Cecal Hemorrhage, CTCAE

description: Moderate symptoms; intervention indicated


name: voltage-dependent N-type calcium channel subunit alpha-1B isoform r1 (rat)

description: A voltage-dependent N-type calcium channel subunit alpha-1B (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:Q02294-1.


name: Grade 5 Uterus Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 2 Hypersomnia, CTCAE

description: Moderate increased need for sleep


Hypersomnia, CTCAE

description: A disorder characterized by characterized by excessive sleepiness during the daytime.


Grade 1 Hypersomnia, CTCAE

description: Mild increased need for sleep


Grade 3 Hypersomnia, CTCAE

description: Severe increased need for sleep


name: signal transducer and activator of transcription 5B phosphorylated form (human)

description: A signal transducer and activator of transcription 5B (human) that includes at least 1 phosphorylated residue. UniProtKB:P51692, MOD:00696.


name: Grade 3 Eye Disorders - Other, Specify, CTCAE

description: Severe or medically significant but not immediately sight-threatening; limiting self care ADL; decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200)


Grade 5 Colitis, CTCAE

description: Death


name: equilibrative nucleoside transporter 1 isoform h2 (human)

description: An equilibrative nucleoside transporter 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:Q99808-2.


name: heat shock cognate 71 kDa protein cysteinylated 2 (human)

description: A heat shock cognate 71 kDa protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-574 of the amino acid sequence represented by UniProtKB:P11142-1. Example: UniProtKB:P11142-1, Cys-574, MOD:00765.


name: autosomal dominant cerebellar ataxia, deafness and narcolepsy

description: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


Grade 1 Laryngeal Mucositis, CTCAE

description: Endoscopic findings only; mild discomfort with normal intake


name: Grade 1 Intraoperative Gastrointestinal Injury, CTCAE

description: Primary repair of injured organ/structure indicated


name: ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h1 (human)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family 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:Q13822-1.


name: ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h3 (human)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family 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:Q13822-3.


Grade 4 Pericarditis, CTCAE

description: Life-threatening consequences; urgent intervention indicated


name: serine/threonine-protein kinase ULK3 isoform 1 (human)

description: A serine/threonine-protein kinase ULK3 isoform 1 that is encoded in the genome of human.


name: serine/threonine-protein kinase ULK3 isoform 1 (mouse)

description: A serine/threonine-protein kinase ULK3 isoform 1 that is encoded in the genome of mouse.


vitamin B2

Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms).


epithelioid cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.


name: interferon-induced, double-stranded RNA-activated protein kinase cysteinylated 1 (human)

description: An interferon-induced, double-stranded RNA-activated protein kinase (human) that has been cysteinylated on the residue at the position equivalent to Cys-485 of the amino acid sequence represented by UniProtKB:P19525-1. Example: UniProtKB:P19525-1, Cys-485, MOD:00765.


name: Grade 2 Vein Infection with Unknown Absolute Neutrophil Count, CTCAE


renin-1 isoform 1, mature form (mouse)

A renin-1 isoform 1, mature form in mouse. UniProtKB:P06281-1, 72-402.


name: DNA polymerase subunit gamma-1 deaminated 2 (human)

description: A DNA polymerase subunit gamma-1 (human) that has been deaminated on the residue at the position equivalent to Asn-1171 of the amino acid sequence represented by UniProtKB:P54098. UniProtKB:P54098, Asn-1171, MOD:00684.


name: DNA polymerase subunit gamma-1 deaminated 1 (human)

description: A DNA polymerase subunit gamma-1 (human) that has been deaminated on the residue at the position equivalent to Gln-262 of the amino acid sequence represented by UniProtKB:P54098. UniProtKB:P54098, Gln-262, MOD:00685.


name: U5 small nuclear ribonucleoprotein 200 kDa helicase cysteinylated 4 (human)

description: A U5 small nuclear ribonucleoprotein 200 kDa helicase (human) that has been cysteinylated on the residue at the position equivalent to Cys-1278 of the amino acid sequence represented by UniProtKB:O75643-1. Example: UniProtKB:O75643-1, Cys-1278, MOD:00765.


PMS2 Loss of Nuclear Expression

description: An indication that expression of PMS2 was not detected in the nuclei of cells in a sample.


primary hyperoxaluria type 2

description: Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.


name: Disseminated varicella zoster vaccine virus infection

description: A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella-zoster virus, Oka.


Gonadal Myoid Stromal Tumor

description: A rare, benign, well-circumscribed tumor that arises from the testis. It is characterized by the presence of fascicles of spindle cells showing muscle cell differentiation. It lacks sex cord differentiation.


name: ALK tyrosine kinase receptor sequence variant G881D, signal peptide removed form (human)

description: An ALK tyrosine kinase receptor (human) that has an Asp residue at the position equivalent to Gly-881 of the amino acid sequence represented by UniProtKB:Q9UM73 and that has had the signal peptide removed. UniProtKB:Q9UM73, 19-1620, Gly-881, CHEBI:29958.


name: hereditary hypotrichosis with recurrent skin vesicles

description: Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.


acquired lactic acidosis

description: An instance of lactic acidosis that is acquired during the lifetime of the individual.


isoprenoid

Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives.


carotene

Hydrocarbon carotenoids.


tetraterpenoid

Any terpenoid derived from a tetraterpene. The term includes compounds in which the C40 skeleton of the parent tetraterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


all-trans-retinyl octanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of octanoic acid with the hydroxy group of all-trans-retinol.


sesquiterpene lactone

Any member of a diverse class of complex, multicyclic phytochemicals showing a variety of skeleton arrangements and bioactivities, and having in common a sesquiterpenoid structure including a lactone ring.


triterpenoid

Any terpenoid derived from a triterpene. The term includes compounds in which the C30 skeleton of the parent triterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


cyclic monoterpene ketone

A cyclic terpene ketone in which the terpene specified is monoterpene.


tetracyclic diterpenoid

A diterpenoid with a tetracyclic skeleton.


monoterpene ketone

A terpene ketone derived from a monoterpene.


all-trans-3,4-didehydroretinoic acid

A retinoid obtained by 3,4-desaturation of beta-ionone ring of all-trans-retinoic acid


terpene

A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2].


sesquiterpenoid

Any terpenoid derived from a sesquiterpene. The term includes compounds in which the C15 skeleton of the parent sesquiterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


all-trans-retinyl dodecanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of dodecanoic (lauric) acid with the hydroxy group of all-trans-retinol.


acitretin

A retinoid that consists of 3,7-dimethylnona-2,4,6,8-tetraenoic acid having a 4-methoxy-2,3,6-trimethylphenyl group attached at position 9.


picrotoxane sesquiterpenoid

A group of sesquiterpenoids whose structure is based on a hexahydroindane skeleton, as exemplified by picrotin.


monoterpenoid

Any terpenoid derived from a monoterpene. The term includes compounds in which the C10 skeleton of the parent monoterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


xanthophyll

A subclass of carotenoids consisting of the oxygenated carotenes.


VITAMIN A2

A retinoid derived from 3,4-desaturation of the beta-ionone ring of all-trans-retinol.


retinol

A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraen-1-ol substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


retinoid

Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof.


tetraterpene

A C40 terpene.


all-trans-retinyl tetradecanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of tetradecanoic acid with the hydroxy group of all-trans-retinol.


carotenoid beta-end derivative

Any carotenoid derivative with an beta-end group


terpenoid

Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.


cyclic terpene ketone

An alicyclic ketone in which the carbocyclic ring structure forms part of a terpene skeleton.


(-)-CAMPHOR

The S-enantiomer of camphor.


CANNABIGEROLIC ACID

A dihydroxybenzoic acid that is olivetolic acid in which the hydrogen at position 3 is substituted by a geranyl group. A biosynthetic precursor to Delta(9)-tetrahydrocannabinol, the principal psychoactive constituent of the cannabis plant.


carotenoid

One of a class of tetraterpenoids (C40), formally derived from the acyclic parent, psi,psi-carotene by hydrogenation, dehydrogenation, cyclization, oxidation, or combination of these processes. This class includes carotenes, xanthophylls and certain compounds that arise from rearrangement of the skeleton of psi,psi-carotene or by loss of part of this structure. Retinoids are excluded.


terpene glycoside

A terpenoid in which one or more hydroxy functions are glycosylated.


retinyl ester

A carboxylic ester obtained by formal condensation of the hydroxy group of retinol with the carboxy group of any carboxylic acid.


retinoic acid

A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


all-trans-retinyl heptanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of heptanoic acid with the hydroxy group of all-trans-retinol.


all-trans-retinyl ester

A retintinyl ester in which all double bonds of the retinyl side-chain have trans-configuration.


terpene ketone

Any terpenoid which contains a keto group.


MENTHOL

Any secondary alcohol that is one of the eight possible diastereoisomers of 5-methyl-2-(propan-2-yl)cyclohexan-1-ol.


diterpenoid

Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


triterpenoid saponin

A terpene glycoside in which the terpene moiety is a triterpenoid.


CAMPHOR

The (R)- enantiomer of camphor.


cannabinerolic acid

A dihydroxybenzoic acid that is olivetolic acid in which the hydrogen at position 3 is substituted by a neryl group. A biosynthetic precursor to Delta(9)-tetrahydrocannabinol, the principal psychoactive constituent of the cannabis plant.


Duodenal Adenoma

description: A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous.


Benign Periampullary Neoplasm

description: A neoplasm that arises from the periampullary region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential..


Atypical Type A Thymoma

description: A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis).


name: Pathologic Stage I Merkel Cell Carcinoma AJCC v8

description: Stage I includes: T1, N0, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)


LADD syndrome 1

description: Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.


cataract 44

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.


heme

A heme is any tetrapyrrolic chelate of iron.


heme b

A metalloprotoporphyrin in which the four pyrrole nitrogens of the protoporphyrin moiety are coordinated to iron. It is the most abundant of the heme compounds.


name: endothelin-converting enzyme 1 deaminated 3 (human)

description: An endothelin-converting enzyme 1 (human) that has been deaminated on the residue at the position equivalent to Asn-660 of the amino acid sequence represented by UniProtKB:P42892-1. Example: UniProtKB:P42892-1, Asn-660, MOD:00684.


name: dual specificity protein kinase CLK4 phosphorylated 1 (human)

description: A dual specificity protein kinase CLK4 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-303 of the amino acid sequence represented by UniProtKB:Q9HAZ1. UniProtKB:Q9HAZ1, Tyr-303, MOD:00048.


Cellular neurothekeoma

description: A nerve sheath myxoma with increased cellularity.


name: Grade 1 Ear and Labyrinth Disorders - Other, Specify, CTCAE

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


name: cutaneous undifferentiated pleomorphic sarcoma

description: An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.


anaplastic sarcoma of the kidney

description: A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.


5-fluoroanthranilic acid

An aminobenzoic acid that is anthranilic acid in which the hydrogen at position 5 on the phenyl ring is replaced by fluorine.


name: autosomal recessive limb-girdle muscular dystrophy type 2Q

description: Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.


name: leukotriene A-4 hydrolase hydroxylated 1 (human)

description: A leukotriene A-4 hydrolase (human) that has been hydroxylated on the residue at the position equivalent to Trp-425 of the amino acid sequence represented by UniProtKB:P09960-1. Example: UniProtKB:P09960-1, Trp-425, MOD:01622.


name: leukotriene A-4 hydrolase isoform h2 (human)

description: A leukotriene A-4 hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P09960-2.


name: leukotriene A-4 hydrolase isoform 1 (human)

description: A leukotriene A-4 hydrolase isoform 1 that is encoded in the genome of human.


name: leukotriene A-4 hydrolase isoform h3 (human)

description: A leukotriene A-4 hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P09960-3.


name: leukotriene A-4 hydrolase, initiator methionine removed form (human)

description: A leukotriene A-4 hydrolase (human) that has had the initiator methionine removed. UniProtKB:P09960, 2-611.


name: leukotriene A-4 hydrolase deaminated 1 (human)

description: A leukotriene A-4 hydrolase (human) that has been deaminated on the residue at the position equivalent to Asn-467 of the amino acid sequence represented by UniProtKB:P09960-1. Example: UniProtKB:P09960-1, Asn-467, MOD:00684.


name: leukotriene A-4 hydrolase isoform h4 (human)

description: A leukotriene A-4 hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P09960-4.


name: Barrett Esophagus-Indefinite for Dysplasia

description: A finding indicating the presence of Barrett esophagus in which technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts.


Gastrointestinal dysplasia

description: A finding indicating the presence of morphologic features of neoplasia in the epithelium of any part of the digestive system without evidence of invasion.  These features include architectural and cytological epithelial alterations.


name: High Grade Dysplasia in Ulcerative Colitis

description: A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Moderate dysplasia of colon

description: A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


name: Barrett Esophagus-Negative for Dysplasia

description: A finding indicating the presence of Barrett esophagus with regenerative changes only.


name: Barretts esophagus with high grade dysplasia

description: A finding indicating the presence of Barrett esophagus in which there is marked nuclear pleomorphism and loss of polarity, increased number of atypical mitotic figures, and crypt budding, branching, and crowding.


name: Crohn Disease-Associated Dysplasia of the Colorectum

description: A morphologic finding indicating the presence of dysplastic epithelial changes in an intestinal tissue sample that is affected by Crohn disease.


Negative for Gastric Dysplasia

description: A morphologic finding indicating the absence of dysplastic changes in the gastric mucosal epithelium.  It includes non-neoplastic inflammatory, reactive, or metaplastic pathologic processes.


name: Low Grade Dysplasia in Inflammatory Bowel Disease

description: A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


name: Ulcerative Colitis-Associated Dysplasia of the Colorectum

description: A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis.


Mild dysplasia of colon

description: A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


Barretts esophagus with dysplasia

description: Epithelial dysplasia that develops in Barrett esophagus. It is classified as low or high grade. When technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts, then the diagnosis of Barrett esophagus-indefinite for dysplasia is made.


name: Low Grade Dysplasia in Ulcerative Colitis

description: A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Gastric dysplasia

description: A intraepithelial neoplasia (dysplasia) that arises in either the native gastric mucosa or in metaplastic gastric epithelium.  It has a flat, polypoid or slightly depressed growth pattern.  It is graded as low grade (mild dysplasia) or high grade (moderate dysplasia and carcinoma in situ).  (WHO, 2000)


name: Inflammatory Bowel Disease-Associated Dysplasia of the Colorectum

description: A morphologic finding indicating the presence of colorectal epithelial dysplasia secondary to inflammatory bowel disease.


name: Barretts esophagus with low grade dysplasia

description: A finding indicating the presence of Barrett esophagus in which the crypts are preserved or mildly distorted.  There is nuclear elongation, mild pleomorphism and loss of polarity, mucin depletion, and increased number of mitotic figures.


Moderate dysplasia of rectum

description: A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Esophageal Columnar Dysplasia

description: A morphologic finding the replacement of the normal lower esophagus squamous epithelium with columnar epithelium.


Dysplasia of rectum

description: A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the rectal mucosa.  There is no evidence of invasion.


name: High Grade Dysplasia in Inflammatory Bowel Disease

description: A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Liver Dysplastic Foci

description: A morphologic finding indicating the presence of single or multiple foci of hepatocytes that exhibit dysplastic changes.  These microscopic foci measure less than 1 mm in diameter and are usually detected in cirrhotic livers.


Indefinite for Gastric Dysplasia

description: A term used to describe an ambiguous morphologic pattern in the gastric mucosa, when there is doubt whether the findings represent a non-neoplastic or neoplastic pathologic process.


Mild dysplasia of rectum

description: A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Moderate esophageal dysplasia

description: A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the epithelium of the esophageal mucosa. There is no evidence of invasion.


peroxisome biogenesis disorder 7B

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: hypoxia-inducible factor 1-alpha inhibitor cysteinylated 1 (human)

description: A hypoxia-inducible factor 1-alpha inhibitor (human) that has been cysteinylated on the residue at the position equivalent to Cys-226 of the amino acid sequence represented by UniProtKB:Q9NWT6. UniProtKB:Q9NWT6, Cys-226, MOD:00765.


dioctophymiasis

description: A disease caused by infection with Dioctophyme renale.


Enoplea infectious disease

description: Infections with nematodes of the order enoplida.


Trichinella spiralis infectious disease

description: An disease or disorder caused by infection with Trichinella spiralis.


name: heterotaxy, visceral, 10, autosomal, with male infertility


name: malignant central nervous system mesenchymal, non-meningothelial neoplasm

description: A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.


name: central nervous system melanocytic neoplasm

description: A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.


name: central nervous system extraskeletal osteosarcoma

description: An osteosarcoma arising from the brain or spinal cord.


diencephalic cancer

description: A cancer involving a diencephalon.


meningeal melanomatosis

description: A meningeal melanoma with secondary diffuse meningeal spread. (WHO)


name: rhabdoid tumor predisposition syndrome 2

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.


cerebral sarcoma

description: A sarcoma involving a telencephalon.


cerebral lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.


name: primary intracranial sarcoma, DICER1-mutant

description: A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.


meningeal sarcoma

description: A rare sarcoma arising from the meninges.


malignant leptomeningeal tumor

description: A primary or metastatic malignant tumor involving the leptomeninges.


anaplastic meningioma

description: A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).


skin meningioma

description: A meningioma (disease) that involves the zone of skin.


parasagittal meningioma

description: A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.


choroid plexus meningioma

description: A meningioma that affects the choroid plexus.


intraventricular meningioma

description: A meningioma that affects the ventricles of the brain.


spinal meninges cancer

description: A malignant neoplasm involving the meninx of spinal cord.


name: primary melanoma of the central nervous system

description: A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.


pineal gland cancer

description: Abnormal malignant growth of the cells that comprise the pineal parenchyma.


adult leptomeningeal melanoma

description: A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.


cerebral hemisphere cancer

description: A cancer that involves the cerebral hemisphere.


childhood brain stem neoplasm

description: A neoplasm that affects the brain stem and occurs during childhood.


cerebellopontine angle embryonal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.


lateral ventricle meningioma

description: A meningioma that affects the lateral ventricle of the brain.


primary skin meningioma

description: A rare extracranial meningioma that arises from the skin.


malignant carotid body paraganglioma

description: A carotid body paraganglioma that metastasizes to other anatomic sites.


brainstem cancer

description: A primary or metastatic malignant neoplasm that affects the brain stem.


meningeal melanocytoma

description: A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.


paragangliomas 5

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.


frontal convexity meningioma

description: A meningioma that affects the frontal sulcus.


infratentorial cancer

description: Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.


central nervous system sarcoma

description: A sarcoma that arises from the central nervous system.


name: cerebral primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.


cancer of cerebellum

description: A cancer that involves the cerebellum.


name: intracranial extraskeletal myxoid chondrosarcoma

description: An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.


intracerebral cystic meningioma

description: A cystic meningioma that grows within the cerebral hemispheres.


cerebral ventricle cancer

description: A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.


name: embryonal tumor with multilayered rosettes

description: A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.


thalamic cancer

description: A cancer involving a dorsal plus ventral thalamus.


parietal lobe cancer

description: A malignant neoplasm involving the parietal lobe


cerebral convexity meningioma

description: A meningioma that affects the cerebral sulcus.


pituitary cancer

description: A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.


leptomeningeal sarcoma

description: A sarcoma arising from the leptomeninges.


brain sarcoma

description: A sarcoma arising from the brain.


diffuse meningeal melanocytosis

description: A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)


cerebral meningioma

description: A meningioma that affects the cerebral hemispheres.


central nervous system rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.


leptomeningeal melanoma

description: A melanoma that arises from leptomeningeal melanocytes.


malignant jugulotympanic paraganglioma

description: A jugulotympanic paraganglioma that metastasizes to other anatomic sites.


sarcomatosis of the meninges

description: A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.


central nervous system angiosarcoma

description: A malignant vascular neoplasm arising from the brain, spinal cord or meninges.


choroid plexus cancer

description: A malignant neoplasm involving the choroid plexus


paragangliomas 4

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.


malignant tumor of meninges

description: A cancer that involves the meningeal cluster.


central nervous system leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.


paragangliomas 2

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.


pediatric leptomeningeal melanoma

description: A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.


name: central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.


name: receptor tyrosine-protein kinase erbB-2 sequence variant R896H, signal peptide removed form (human)

description: A receptor tyrosine-protein kinase erbB-2 (human) that has a His residue at the position equivalent to Arg-896 of the amino acid sequence represented by UniProtKB:P04626-1 and that has had the signal peptide removed. Example: UniProtKB:P04626-1, 23-1255, Arg-896, CHEBI:29979.


name: transient receptor potential cation channel subfamily M member 4 isoform r1 (rat)

description: A transient receptor potential cation channel subfamily M member 4 (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:Q9ESQ5-1.


name: transient receptor potential cation channel subfamily M member 4 isoform r2 (rat)

description: A transient receptor potential cation channel subfamily M member 4 (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:Q9ESQ5-2.


retinitis pigmentosa 27

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.


name: protein delta homolog 1 O-glycosylated 2 (human)

description: A protein delta homolog 1 (human) that has been O-glycosylated at the residue equivalent to Thr-269 of the amino acid sequence represented by UniProtKB:P80370-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P80370-1, Thr-269, MOD:00005~GNO:G43417UB.


Stage I Ureter Cancer AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage I Renal Pelvis and Ureter Cancer AJCC v8


name: Charcot-Marie-Tooth disease axonal type 2S

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.


name: Stage III Intermediate Grade Adult Non-Hodgkin's Lymphoma


variola minor infection

description: A orthopoxvirus that causes a milder clinical syndrome than smallpox.


name: PRKAR1A-Inactivated Pigmented Epithelioid Melanocytoma

description: A pigmented epithelioid melanocytoma that is associated with PRKAR1A gene inactivation.


Timothy syndrome type 2

description: Classical Timothy syndrome without cutaneous syndactyly.


long QT syndrome 9

description: Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.


Timothy syndrome type 1

description: Classical Timothy syndrome with cutaneous syndactyly.


long QT syndrome 10

description: Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.


Jervell and Lange-Nielsen syndrome 1

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


long QT syndrome 6

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.


Timothy syndrome, atypical type

description: Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.


Jervell and Lange-Nielsen syndrome 2

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


long QT syndrome 13

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.


long QT syndrome 15

description: Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.


Timothy syndrome, classic type

description: Classic form of Timothy syndrome, includes all features of generic.


name: ectopia lentis 2, isolated, autosomal recessive

description: An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.


Stage IIIC Eyelid Carcinoma AJCC v7

description: Stage IIIC includes: T4, Any N, M0.  T4: Tumor is not resectable due to extensive invasion of ocular, orbital, craniofacial structures, or brain.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIA Eyelid Carcinoma AJCC v8

description: Stage IIA includes: T2b-c, T3, N0, M0: T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Eyelid Carcinoma AJCC v7

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v7

description: Stage IIIB includes: Any T, N1, M0.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v7

description: Stage II includes: T3a, N0, M0.  T3a: Tumor more than 20 mm in greatest dimension.  Or, any tumor that invades adjacent ocular or orbital structures.  Or, any T with perineural tumor invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IC Eyelid Carcinoma AJCC v7

description: Stage IC includes: T2b, N0, M0.  T2b: Tumor more than 10 mm, but not more than 20 mm in greatest dimension.  Or, tumor involves full thickness of the eyelid.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v8

description: Stage IIIB includes: Any T, N2, M0. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Eyelid Carcinoma AJCC v8

description: Stage I includes: IA: T1, N0, M0; IB: T2a, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Basal cell carcinoma of eyelid

description: A basal cell carcinoma that arises from the eyelid.


Stage IIIA Eyelid Carcinoma AJCC v8

description: Stage IIIA includes: Any T, N1, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v7

description: Stage IB includes: T2a, N0, M0.  T2a: Tumor more than 5 mm, but not more than 10 mm in greatest dimension.  Or, any tumor that invades the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IV Eyelid Carcinoma AJCC v7

description: Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis.  (AJCC 7th ed.)


Stage IIB Eyelid Carcinoma AJCC v8

description: Stage IIB includes: T4, N0, M0. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Eyelid Carcinoma by AJCC v8 Stage

description: A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin).  (from AJCC 8th Ed.)


Stage 0 Eyelid Carcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIA Eyelid Carcinoma AJCC v7

description: Stage IIIA includes: T3b, N0, M0.  T3b: Complete tumor resection requires enucleation, exenteration, or bone resection.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Eyelid Carcinoma by AJCC v7 Stage

description: A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 7th edition.


Stage IA Eyelid Carcinoma AJCC v7

description: Stage IA includes: T1, N0, M0.  T1: Tumor 5 mm or less in greatest dimension.  No invasion of the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v8

description: Stage II includes: IIA: T2b-c, T3, N0, M0; IIB: T4, N0, M0. T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Eyelid Carcinoma AJCC v8

description: Stage III includes: IIIA: Any T, N1, M0; IIIB: Any T, N2, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v8

description: Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IA Eyelid Carcinoma AJCC v8

description: Stage IA includes: T1, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IV Eyelid Carcinoma AJCC v8

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


name: protein mono-ADP-ribosyltransferase PARP14 deaminated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP14 (human) that has been deaminated on the residue at the position equivalent to Gln-733 of the amino acid sequence represented by UniProtKB:Q460N5-6. Example: UniProtKB:Q460N5-6, Gln-733, MOD:00685.


spina bifida cystica

description: A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


posterior meningocele

description: Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.


true myelomeningocele

description: A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).


name: saccular spinal dysraphism with a stalk to the dome

description: A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).


hemi-myelomeningocele

description: A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.


non-terminal myelocystocele

description: A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.


papillary meningioma of the cerebellum

description: A papillary meningioma that affects the cerebellum.


name: Stage II Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage II includes: T2, N0, M0. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Non-Neoplastic Dental Disorder

description: A non-neoplastic disorder that affects the teeth and/or the periodontal tissues.  Representative examples include odontoma, enamel hypoplasia, and periodontitis.


Cemento-osseous dysplasia

description: A non-neoplastic fibro-osseous lesion of the tooth-bearing regions of the gnathic bones. It is characterized by a variably cellular fibrous stroma with areas of swirling and/or loose collagen. Within the stroma are mineralizing tissues consisting of osteoid, bone, and cementum-like material. As the lesions mature, they become increasingly calcified. (WHO 2017)


acute pericementitis

description: An acute inflammatory process that affects the tissues that surround and support the teeth.


suppurative periapical periodontitis

description: Localized collection of pus in the tissues that enclose the root of a tooth.


Odontoma, Compound

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It usually affects children and adolescents. It is characterized by the presence of tooth-like structures. Treatment consists of local excision. Recurrences have not been reported.


Periodontal infection

description: An infectious process affecting the tissues that surround and support the teeth.


Dental disorders congenital

description: A non-neoplastic dental disorder that is present at birth.


Dental pain and sensation disorders

description: A term that refers to disorders that result in pain and abnormal sensation in the teeth and/or periodontal tissues.


florid cemento-osseous dysplasia

description: Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.


Gigantiform Cementoma

description: An extremely rare, benign, rapidly progressing fibro-osseous lesion that arises from the jaws as a multifocal expansile growth in children or adolescents. It results in significant deformity, orbital distortion, and possible airway involvement. An autosomal dominant inheritance has been proposed. Histologically, it is characterized by the presence of immature bony trabeculae and cementum-like calcifications within a hypercellular fibroblastic stroma. It shares morphological features with florid cemento-osseous dysplasia, but in florid cemento-osseous dysplasia the degree of expansion is less prominent and patients are usually older.


Periodontal Abscess

description: An acute purulent bacterial infection that arises from the tissues that surround and support the teeth.


Dental and Periodontal Infection

description: An infectious process that affects the teeth and/or the periodontal tissues.


chronic periodontitis

description: A chronic inflammatory process that affects the tissues that surround and support the teeth.


Segmental Odontomaxillary Dysplasia

description: A developmental abnormality that is characterized by segmental enlargement in the premolar/molar region of the maxilla and associated with dento-osseous abnormalities.


Periapical Cemento-Osseous Dysplasia

description: Cemento-osseous dysplasia affecting the apical areas of mandibular anterior teeth. (WHO 2017)


Chronic pericoronitis

description: Long-term inflammation of the gingiva surrounding the crown of a tooth, usually of an incompletely erupted tooth.


Dental Developmental Disorder

description: A disorder of the teeth arising during odontogenesis.


Complex odontoma

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It is one of the most common odontogenic tumors and it usually affects children, adolescents, and young adults. It is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur.


Hypotensive Shock

description: Shock resulting from abnormally low blood pressure.


name: tissue-type plasminogen activator N-glycosylated 79 (human)

description: A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-483 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G02000AU. Example: UniProtKB:P00750-1, Asn-483, MOD:00160~GNO:G02000AU.


name: Polymorphic lymphoproliferative disorder following transplant

description: A clonal B-cell lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a polymorphic B-cell infiltrate composed of small and medium sized lymphocytes, immunoblasts, and plasma cells. In some cases, reduction of the immunosuppression therapy may lead to regression of the lesions. In other cases the lesions may progress to lymphoma.


name: Refractory Polymorphic Post-Transplant Lymphoproliferative Disorder

description: A polymorphic post-transplant lymphoproliferative disorder that does not respond to treatment.


name: Recurrent Polymorphic Post-Transplant Lymphoproliferative Disorder

description: The reemergence of polymorphic post-transplant lymphoproliferative disorder after a period of remission.


name: tyrosine-protein phosphatase non-receptor type 11 phosphorylated 1 (human)

description: A tyrosine-protein phosphatase non-receptor type 11 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-546 of the amino acid sequence represented by UniProtKB:Q06124. UniProtKB:Q06124, Tyr-546, MOD:00048.


Grade 2 Postoperative Hemorrhage, CTCAE

description: Moderate bleeding requiring transfusion < 2 units (10 cc/kg for pediatrics) of pRBCs


name: congenital hypotrichosis with juvenile macular dystrophy

description: A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.


name: poly [ADP-ribose] polymerase 2 ADP-ribosylglutamate form (human)

description: A poly [ADP-ribose] polymerase 2 (human) that includes at least one ADP-ribosylated glutamic acid. UniProtKB:Q9UGN5, MOD:00300.


name: protein kinase C epsilon type isoform 1 (human)

description: A protein kinase C epsilon isoform 1 that is encoded in the genome of human.


Grade 3 Vaginal Infection, CTCAE

description: IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated


name: Pathologic Stage IIIA Gastric Cancer AJCC v8

description: Stage IIIA includes: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs.  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. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Gastric Cancer by AJCC v8 Stage

description: A term that refers to the staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


name: Postneoadjuvant Therapy Stage III Gastric Cancer AJCC v8

description: Stage III includes: (T4a, N1, M0); (T3, N2, M0); (T2, N3, M0); (T4b, N0, M0); (T4b, N1, M0); (T4a, N2, M0); (T3, N3, M0); (T4b, N2, M0); (T4b, N3, M0); (T4a, N3, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. 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.)


Clinical Stage 0 Gastric Cancer AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IVB Gastric Cancer AJCC v8

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


name: Pathologic Stage IIIB Gastric Cancer AJCC v8

description: Stage IIIB includes: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIA Gastric Cancer AJCC v8

description: Stage IIA includes: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. 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.)


name: Clinical Stage III Gastric Cancer AJCC v8

description: Stage III includes: (T3, N1, N2, or N3, M0); (T4a, N1, N2, or N3, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). 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.)


name: Pathologic Stage IIIC Gastric Cancer AJCC v8

description: Stage IIIC includes: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IV Gastric Cancer AJCC v8

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


name: Clinical Stage IIA Gastric Cancer AJCC v8

description: Stage IIA includes: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0). 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. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage I Gastric Cancer AJCC v8

description: Stage I includes: (T1, N0, M0); (T2, N0, M0); (T1, N1, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IVA Gastric Cancer AJCC v8

description: Stage IVA includes: (T4b, Any N, M0): T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Gastric Cancer AJCC v8

description: Stage IIB includes: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral 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. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage II Gastric Cancer AJCC v8

description: Stage II includes: (T3, N0, M0); (T2, N1, M0); (T1, N2, M0); (T4a, N0, M0); (T3, N1, M0); (T2, N2, M0); (T1, N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral 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. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage II Gastric Cancer AJCC v8

description: Stage II includes: IIA: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0); IIB: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral 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. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage I Gastric Cancer AJCC v8

description: Stage I includes: (T1, N0, M0); (T2, N0, M0). 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. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Postneoadjuvant Therapy Stage

description: A term that refers to the postneoadjuvant therapy staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage IA Gastric Cancer AJCC v8

description: Stage IA includes: (T1, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage II Gastric Cancer AJCC v8

description: Stage II includes: IIA: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0); IIB: (T3, N0, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral 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. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IIB Gastric Cancer AJCC v8

description: Stage IIB includes: (T3, N0, M0); (T4a, N0, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IV Gastric Cancer AJCC v8

description: Stage IV includes: IVA: (T4b, Any N, M0); IVB: (Any T, Any N, M1). T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Pathologic Stage

description: A term that refers to the pathologic staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage I Gastric Cancer AJCC v8

description: Stage I includes: IA: (T1, N0, M0); IB: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage III Gastric Cancer AJCC v8

description: Stage III includes: IIIA: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0); IIIB: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0); IIIC: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. 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. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IB Gastric Cancer AJCC v8

description: Stage IB includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Clinical Stage

description: A term that refers to the clinical staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage 0 Gastric Cancer AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage IV Gastric Cancer AJCC v8

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


polyazaalkane

Any azaalkane in which two or more carbons in the chain are replaced by nitrogen.


tyrosine-protein kinase Fer

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


name: tyrosine-protein kinase Fer isoform 1 (human)

description: A tyrosine-protein kinase Fer (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:P16591-1.


name: tyrosine-protein kinase Fer isoform 3 (human)

description: A tyrosine-protein kinase Fer isoform 3 that is encoded in the genome of human.


name: tyrosine-protein kinase Fer isoform h2 (human)

description: A tyrosine-protein kinase Fer (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:P16591-2.


name: ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1 (human)

description: A ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1 that is encoded in the genome of human.


name: Esophageal Atresia/Tracheoesophageal Fistula Type C

description: A type of esophageal atresia (EA) / tracheoesophageal fistula (TEF) in which the upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF, which accounts for approximately 85 percent of cases.


name: diamine acetyltransferase 1 isoform 1 (human)

description: A diamine acetyltransferase 1 isoform 1 that is encoded in the genome of human.


name: diamine acetyltransferase 1 methylated 1 (human)

description: A diamine acetyltransferase 1 (human) that has been methylated on the residue at the position equivalent to Cys-54 of the amino acid sequence represented by UniProtKB:P21673. UniProtKB:P21673, Cys-54, MOD:00660.


name: eIF-2-alpha kinase GCN2 isoform h2 (human)

description: 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:Q9P2K8-2.


Grade 4 Gallbladder Obstruction, CTCAE

description: Life-threatening consequences; urgent operative intervention indicated


name: Childhood Sclerosing Epithelioid Fibrosarcoma

description: A sclerosing epithelioid fibrosarcoma that occurs during childhood.


Sclerosing Epithelioid Fibrosarcoma

description: A well-circumscribed malignant fibroblastic neoplasm that usually arises from the soft tissue. It is characterized by the presence of nests of malignant epithelioid fibroblasts and sclerotic collagen stroma formation.


serine/threonine-protein kinase PRKX

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


name: cAMP-dependent protein kinase catalytic subunit PRKX deaminated 1 (human)

description: A cAMP-dependent protein kinase catalytic subunit PRKX (human) that has been deaminated on the residue at the position equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P51817. UniProtKB:P51817, Asn-177, MOD:00684.


Tracheoarterial Fistula

description: An erosion through the tracheal wall into an artery.


Testicular Myeloid Sarcoma

description: A rare myeloid sarcoma that arises from the testis. At presentation the involvement is usually unilateral.


Phosphaturic mesenchymal tumor, benign

description: A phosphaturic mesenchymal tumor with benign histologic features.  It may recur locally but does not metastasize.  Complete excision is curative.


name: ribosomal protein S6 kinase beta-1 isoform 1 phosphorylated 1 (human)

description: A ribosomal protein S6 kinase beta-1 isoform 1 phosphorylated 1 in human. UniProtKB:P23443-1, Ser-441/Ser-447, MOD:00046|Thr-444, MOD:00047.


name: fibroblast growth factor receptor 2 isoform 1 sequence variant A315T, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 isoform 1 (human) that has a Thr residue at the position equivalent to Ala-315 of the amino acid sequence represented by UniProtKB:P21802-1 and that has had the signal peptide removed. UniProtKB:P21802-1, 22-821, Ala-315, CHEBI:30013.


name: vertebral, cardiac, renal, and limb defects syndrome 3


name: congenital vertebral-cardiac-renal anomalies syndrome


name: vertebral, cardiac, renal, and limb defects syndrome 1


name: vertebral, cardiac, renal, and limb defects syndrome 2


Grade 1 Neonatal Rash, AE

description: An adverse event in a newborn characterized by localized rash.


name: cyclin-dependent kinase 9 phosphorylated 1 (human)

description: A cyclin-dependent kinase 9 (human) that has been phosphorylated on the residue at the position equivalent to Thr-186 of the amino acid sequence represented by UniProtKB:P50750-1. Example: UniProtKB:P50750-1, Thr-186, MOD:00047.


age related macular degeneration 1

description: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.


name: TGF-beta receptor type-1 sequence variant R414*, signal peptide removed phosphorylated 1 (human)

description: A TGF-beta receptor type-1 (human) that has has been truncated after the position equivalent to Arg-413 of the amino acid sequence represented by UniProtKB:P36897-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Ser-165, Thr-185, Thr-186, Ser-187, Ser-189, and Ser-191. Example: UniProtKB:P36897-1, 34-413, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047.


Jejunal Melanoma

description: A melanoma that arises from the jejunum.


Jejunal Carcinoma

description: A carcinoma that arises from the jejunum.


name: tumor necrosis factor isoform 1 myristoylated 1 (human)

description: A tumor necrosis factor isoform 1 myristoylated 1 in human. UniProtKB:P01375-1, Lys-19/Lys-20, MOD:00087.


Grade 4 Vasovagal Reaction, CTCAE

description: Life-threatening consequences; urgent intervention indicated


African histoplasmosis

description: An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.


name: Histoplasma capsulatum infectious disease

description: An disease or disorder caused by infection with Histoplasma capsulatum.


histoplasmosis meningitis

description: An infectious meningitis caused by infection with Histoplasma capsulatum.


histoplasmosis retinitis

description: An retinitis caused by infection with Histoplasma capsulatum.


macular corneal dystrophy

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


Fuchs' endothelial dystrophy

description: Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.


gelatinous drop-like corneal dystrophy

description: Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.


Mounier-Kuhn syndrome

description: Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.


genochondromatosis type 1

description: Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.


genochondromatosis type 2

description: Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.


name: vitamin K-dependent gamma-carboxylase deaminated 2 (human)

description: A vitamin K-dependent gamma-carboxylase (human) that has been deaminated on the residue at the position equivalent to Asn-525 of the amino acid sequence represented by UniProtKB:P38435-1. Example: UniProtKB:P38435-1, Asn-525, MOD:00684.


A 1-glycosyltriazole in which the glycosyl residue is specified as ribosyl.


name: Adverse Event Attributed to Investigational New Drug

description: An indication that an adverse event is causally related to the use of an investigational new drug (IND).


name: phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform sequence variant R38S (human)

description: A phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform (human) that has a Ser residue at the position equivalent to Arg-38 of the amino acid sequence represented by UniProtKB:P42336. UniProtKB:P42336, Arg-38, CHEBI:29999.


beta adrenergic receptor

An adrenoceptor protein whose active form binds adrenaline and related compounds and whose activity is mediated by G proteins that cause activation of adenylate cyclase.


name: beta-1 adrenergic receptor isoform 1 (mouse)

description: A beta-1 adrenergic receptor isoform 1 that is encoded in the genome of mouse.


name: beta-1 adrenergic receptor isoform 1 (rat)

description: A beta-1 adrenergic receptor isoform 1 that is encoded in the genome of rat.


name: beta-3 adrenergic receptor isoform A (mouse)

description: A beta-3 adrenergic receptor isoform 1 that is encoded in the genome of mouse.


beta-3 adrenergic receptor

A beta adrenergic receptor that is a translation product of the human ADRB3 gene or a 1:1 ortholog thereof.


name: beta-2 adrenergic receptor phosphoserine form (human)

description: A beta-2 adrenergic receptor (human) that includes at least one phosphorylated serine. UniProtKB:P07550, MOD:00046.


beta-1 adrenergic receptor

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


name: beta-1 adrenergic receptor phosphorylated 1 (human)

description: A beta-1 adrenergic receptor (human) that has been phosphorylated at Ser-312. UniProtKB:P08588, Ser-312, MOD:00046.


name: beta-2 adrenergic receptor ubiquitinated form (human)

description: A beta-2 adrenergic receptor (human) that includes at least one ubiquitinated lysine. UniProtKB:P07550, MOD:01148.


beta-2 adrenergic receptor

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


name: beta-2 adrenergic receptor phosphorylated 1 (human)

description: A beta-2 adrenergic receptor (human) that has been phosphorylated at Tyr-141. UniProtKB:P07550, Tyr-141, MOD:00048.


name: beta-3 adrenergic receptor isoform B (mouse)

description: A beta-3 adrenergic receptor (mouse) 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:P25962-2.


name: beta-3 adrenergic receptor isoform 1 (rat)

description: A beta-3 adrenergic receptor isoform 1 that is encoded in the genome of rat.


Stage IV Adult Hodgkin Lymphoma

description: Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.


name: Esophageal squamous cell carcinoma recurrent

description: An esophageal squamous cell carcinoma which has reappeared after a period of remission or after presumed treatment.


benign neoplasm of lacrimal gland

description: A benign neoplasm that involves the lacrimal gland.


lacrimal gland neoplasm

description: A neoplasm (disease) that involves the lacrimal gland.


lacrimal gland cancer

description: A malignant neoplasm involving the lacrimal gland.


name: vasoactive intestinal polypeptide receptor 1 isoform Long (human)

description: A vasoactive intestinal polypeptide receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P32241-2.


Grade 1 Hypercalcemia, CTCAE

description: Corrected serum calcium of >ULN-11.5 mg/dL; >ULN-2.9 mmol/L; Ionized calcium >ULN-1.5 mmol/L


name: phosphatidylinositol 3-kinase catalytic subunit type 3 deaminated 3 (human)

description: A phosphatidylinositol 3-kinase catalytic subunit type 3 (human) that has been deaminated on the residue at the position equivalent to Gln-620 of the amino acid sequence represented by UniProtKB:Q8NEB9. UniProtKB:Q8NEB9, Gln-620, MOD:00685.


Stargardt disease 4

description: Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.


name: vitamin K-dependent protein C N-glycosylated 3 (human)

description: A vitamin K-dependent protein C (human) that has been N-glycosylated at the residue equivalent to Asn-139 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan structure is represented by GlyTouCan:G32246SI. Example: UniProtKB:P04070-1, Asn-139, MOD:00160~GNO:G32246SI.


Sporadic Cylindroma

description: A cylindroma occurring as a solitary sporadic lesion.


name: Grade 1 Muscle Intra-Operative Injury, CTCAE


name: histone deacetylase 1 cysteinylated 1 (human)

description: A histone deacetylase 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-151 of the amino acid sequence represented by UniProtKB:Q13547. UniProtKB:Q13547, Cys-151, MOD:00765.


name: Closed fracture of mandible, multiple sites

description: A traumatic break in two or more places in the mandible that does not involve a break in the adjacent skin.


name: Descending Colon Neuroendocrine Tumor G1

description: A well differentiated, low grade neuroendocrine neoplasm that arises from the descending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


Elevated Alpha-Hydroxyglutarate

description: A finding indicating elevated concentrations of alpha-hydroxyglutarate in a sample.


Grade 1 Dyspnea, CTCAE

description: Shortness of breath with moderate exertion


20q11.2 microdeletion syndrome

description: 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.


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

description: A sodium- and chloride-dependent glycine transporter 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y345-1.


name: Resectable Clear Cell Renal Cell Carcinoma

description: Clear cell renal cell carcinoma that is amenable to surgical resection.


Resectable Renal Cell Carcinoma

description: Renal cell carcinoma that is amenable to surgical resection.


name: alpha-2A adrenergic receptor isoform 1 (human)

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


name: alpha-2A adrenergic receptor isoform 1 (mouse)

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


urethral calculus

description: A concretion in the urethra.


name: prostate-specific antigen N-glycosylated 26 (human)

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


retinitis pigmentosa 42

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


TDP-43 proteinopathy

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


name: C-X-C chemokine receptor type 4 phosphorylated 2 (human)

description: A C-X-C chemokine receptor type 4 (human) that has been phosphorylated on the residue at the position equivalent to Ser-339 of the amino acid sequence represented by UniProtKB:P61073. UniProtKB:P61073, Ser-339, MOD:00046.


4p16.3 microduplication syndrome

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


name: Grade 2 Liver Dysfunction or Failure by Clinical Classification, CTCAE