name: Stage IIIA Choroidal and Ciliary Body Melanoma AJCC v8

description: Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0). T2c: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T2d: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T3b: Tumor size category 3 with ciliary body involvement. T3c: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T4a: Tumor size category 4 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis.  (AJCC 8th ed.)


name: tRNA pseudouridine(55) synthase activity

category: biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Catalysis of the reaction: uridine(55) in tRNA = pseudouridine(55) in tRNA.


isochorismate synthase activity

description: Catalysis of the reaction: chorismate = isochorismate.


name: hydroperoxy icosatetraenoate isomerase activity

description: A hydroperoxy icosatetraenoate = a hydroxy epoxy icosatrienoate.


name: 23S rRNA pseudouridine(955/2504/2580) synthase activity

description: Catalysis of the reaction: uridine(955/2504/2580) in 23S rRNA = pseudouridine(955/2504/2580) in 23S rRNA.


name: 5-(carboxyamino)imidazole ribonucleotide mutase activity

description: Catalysis of the reaction: 5-carboxyamino-1-(5-phospho-D-ribosyl)imidazole = 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate.


UDP-arabinopyranose mutase activity

description: Catalysis of the reaction: UDP-beta-L-arabinofuranose = UDP-beta-L-arabinopyranose.


description: Catalysis of the reaction: 2-(5'-methylthio)pentylmalate = 3-(5'-methylthio)pentylmalate.


methylaspartate mutase activity

description: Catalysis of the reaction: threo-3-methyl-L-aspartate = L-glutamate.


description: Catalysis of the reaction: glucose-1-phosphate = glucose-6-phosphate; using D-glucose as a cofactor.


description: Catalysis of the reaction: N-acetyl-alpha-D-glucosamine 1-phosphate = N-acetyl-D-glucosamine 6-phosphate.


squalene-hopene cyclase activity

description: Catalysis of the reaction: squalene = hop-22(29)-ene.


L-lysine 2,3-aminomutase activity

description: Catalysis of the reaction: L-lysine = (3S)-3,6-diaminohexanoate.


name: 23S rRNA pseudouridine(2604) synthase activity

description: Catalysis of the reaction: uridine(2604) in 23S rRNA = pseudouridine(2604) in 23S rRNA.


rRNA pseudouridine synthase activity

description: Catalysis of the reaction: a uridine in rRNA = a pseudouridine in rRNA. Conversion of uridine in an rRNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5.


isomaltulose synthase activity

description: Catalysis of the reaction: sucrose = 6-O-alpha-D-glucopyranosyl-D-fructofuranose.


name: mitochondrial tRNA pseudouridine(27/28) synthase activity

description: Catalysis of the reaction: uridine(27/28) in mitochondrial tRNA = pseudouridine(27/28) in mitochondrial tRNA.


name: tRNA pseudouridine(32) synthase activity

description: Catalysis of the reaction: uridine(32) in tRNA = pseudouridine(32) in tRNA.


name: D-sedoheptulose 7-phosphate isomerase activity

description: Catalysis of the reaction: D-sedoheptulose-7-phosphate = D-alpha,beta-D-heptose 7-phosphate.


lanosterol synthase activity

description: Catalysis of the reaction: (S)-2,3-epoxysqualene = lanosterol. This is a cyclization reaction that forms the sterol nucleus.


description: Catalysis of the reaction: 2-(3-methylthiopropyl)malate(2-) = 3-(3'-methylthio)propylmalate.


arabidiol synthase activity

description: Catalysis of the reaction: oxidosqualene + H2O = arabidiol ((13R,14R,17E)-malabarica-17,21-diene-3beta,14-diol).


chorismate mutase activity

description: Catalysis of the reaction: chorismate = prephenate.


name: 23S rRNA pseudouridine(1911/1915/1917) synthase activity

description: Catalysis of the reaction: uridine(1911/1915/1917) in 23S rRNA = pseudouridine(1911/1915/1917) in 23S rRNA.


3-(hydroxyamino)phenol mutase activity

description: Catalysis of the reaction: 3-hydroxyaminophenol = aminohydroquinone.


cycloartenol synthase activity

description: Catalysis of the reaction: (S)-2,3-epoxysqualene = cycloartenol.


thalianol synthase activity

description: Catalysis of the cyclization of 3(S)-oxidosqualene to (3S,13S,14R)-malabarica-8,17,21-trien-3-ol (thalianol).


pivalyl-CoA mutase activity

description: Catalysis of the reaction: pivalyl-CoA = 3-methylbutyryl-CoA.


cucurbitadienol synthase activity

description: Catalysis of the reaction: oxidosqualene = cucurbitadienol.


name: 16S rRNA pseudouridine(516) synthase activity

description: Catalysis of the reaction: uridine(516) in 16S rRNA = pseudouridine(516) in 16S rRNA.


beta-amyrin synthase activity

description: Catalysis of the reaction: (S)-2,3-epoxysqualene = beta-amyrin. This reaction is the cyclization and rearrangement of (S)-2,3-epoxysqualene (2,3-oxidosqualene) into beta-amyrin.


name: tRNA pseudouridine(13) synthase activity

description: Catalysis of the reaction: uridine(13) in tRNA = pseudouridine(13) in tRNA.


(hydroxyamino)benzene mutase activity

description: Catalysis of the reaction: (hydroxyamino)benzene = 2-aminophenol.


name: tRNA pseudouridine(38/39) synthase activity

description: Catalysis of the reaction: uridine(38/39) in tRNA = pseudouridine(38/39) in tRNA.


o-hydroxylaminobenzoate mutase activity

description: Catalysis of the reaction: o-hydroxylaminobenzoate = 3-hydroxyanthranilate.


name: 23S rRNA pseudouridine(746) synthase activity

description: Catalysis of the reaction: uridine(746) in 23S rRNA = pseudouridine(746) in 23S rRNA.


L-tyrosine 2,3-aminomutase activity

description: Catalysis of the reaction: L-tyrosine = 3-amino-3-(4-hydroxyphenyl)propanoate.


snRNA pseudouridine synthase activity

description: Catalysis of the reaction: uridine in snRNA = pseudouridine in snRNA. Conversion of uridine in an snRNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5.


L-leucine 2,3-aminomutase activity

description: Catalysis of the reaction: L-leucine = (3R)-beta-leucine.


oxidosqualene cyclase activity

description: Catalysis of the cyclization of (S)-2,3-epoxysqualene to form a triterpene.


phosphopentomutase activity

description: Catalysis of the reaction: D-ribose 1-phosphate = D-ribose 5-phosphate.


baruol synthase activity

description: Catalysis of the reaction: (S)-2,3-epoxysqualene = baruol. Baruol is also known as D:B-Friedo-Baccharan-5,21-dien-3-ol.


intramolecular acyltransferase activity

description: Catalysis of the transfer of an acyl group from one position to another within a single molecule.


name: beta-galactosidase activity (lactose isomerization)

description: Catalysis of the reaction: alpha-lactose = beta-(1->6)-galactobiose.


description: Catalysis of the reaction: maltose = trehalose.


2-methyleneglutarate mutase activity

description: Catalysis of the reaction: 2-methyleneglutarate = 2-methylene-3-methylsuccinate.


name: 21S rRNA pseudouridine(2819) synthase activity

description: Catalysis of the reaction: uridine(2819) in 21S rRNA = pseudouridine(2819) in 21S rRNA.


name: 2,3-bisphosphoglycerate-independent phosphoglycerate mutase activity

description: Catalysis of the reaction: (2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate; this reaction does not require the cofactor 2,3-bisphosphoglycerate.


marneral synthase activity

description: Catalysis of the reaction: oxidosqualene = marneral.


phosphoglucosamine mutase activity

description: Catalysis of the reaction: alpha-D-glucosamine 1-phosphate = D-glucosamine 6-phosphate.


description: Catalysis of the reaction: 2-(4'-methylthio)butylmalate = 3-(4'-methylthio)butylmalate.


name: 9,12-octadecadienoate 8-hydroperoxide 8S-isomerase activity

description: Catalysis of the reaction: (8R,9Z,12Z)-8-hydroperoxyoctadeca-9,12-dienoate = (7S,8S,9Z,12Z)-7,8-dihydroxyoctadeca-9,12-dienoate.


description: Catalysis of the reaction: 4-carboxymethyl-4-methylbut-2-en-1,4-olide = 4-carboxymethyl-3-methylbut-2-en-1,4-olide.


camelliol C synthase activity

description: Catalyzes the reaction: (3S)-2,3-epoxy-2,3-dihydrosqualene = camelliol C.


description: Catalysis of the reaction: 2-(7'-methylthio)heptylmalate = 3-(7'-methylthio)heptylmalate.


lysolecithin acylmutase activity

description: Catalysis of the reaction: 1-acyl-sn-glycero-3-phosphocholine = 2-acyl-sn-glycero-3-phosphocholine.


D-ribose pyranase activity

description: Catalysis of the reaction: beta-D-ribopyranose = beta-D-ribofuranose.


description: Catalysis of the transfer of an amino group from one position to another within a single molecule.


lupeol synthase activity

description: Catalysis of the reaction: (S)-2,3-epoxysqualene = lupeol. This reaction is the cyclization of (S)-2,3-epoxysqualene (2,3-oxidosqualene) to lupeol.


name: tRNA pseudouridine(65) synthase activity

description: Catalysis of the reaction: uridine(65) in tRNA = pseudouridine(65) in tRNA.


name: 23S rRNA pseudouridine(2605) synthase activity

description: Catalysis of the reaction: uridine(2605) in 23S rRNA = pseudouridine(2605) in 23S rRNA.


D-lysine 5,6-aminomutase activity

description: Catalysis of the reaction: D-lysine = (2R,5S)-2,5-diaminohexanoate and (3S)-3,6-diaminohexanoate = (3S,5S)-3,5-diaminohexanoate.


phosphoenolpyruvate mutase activity

description: Catalysis of the reaction: phosphoenolpyruvate = 3-phosphonopyruvate.


tRNA pseudouridine synthase activity

description: Catalysis of the reaction: tRNA uridine = tRNA pseudouridine. Conversion of uridine in a tRNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5.


description: Catalysis of the transfer of a hydroxyl group from one position to another within a single molecule.


description: Catalysis of the reaction: 2-(6'-methylthio)hexylmalate = 3-(6'-methylthio)hexylmalate.


description: Catalysis of the reaction: 4-[(1->4)-alpha-D-glucosyl](n-1)-D-glucose = 1-alpha-D-[(1->4)-alpha-D-glucosyl](n-1)-alpha-D-glucopyranoside.


description: Catalysis of the reaction: cobalt-precorrin 8 = cobyrinate.


precorrin-8X methylmutase activity

description: Catalysis of the reaction: precorrin-8X = hydrogenobyrinate.


alpha-amyrin synthase activity

description: Catalysis of the reaction: (S)-2,3-epoxysqualene = alpha-amyrin. This reaction is a cyclization and rearrangement of (S)-2,3-epoxysqualene (2,3-oxidosqualene) into alpha-amyrin.


2-acetolactate mutase activity

description: Catalysis of the reaction: 2-acetolactate = 3-hydroxy-3-methyl-2-oxobutanoate.


isobutyryl-CoA mutase activity

description: Catalysis of the reaction: isobutyryl-CoA = butanoyl-CoA.


D-ornithine 4,5-aminomutase activity

description: Catalysis of the reaction: D-ornithine = (2R,4S)-2,4-diaminopentanoate.


name: 23S rRNA pseudouridine(2457) synthase activity

description: Catalysis of the reaction: uridine(2457) in 23S rRNA = pseudouridine(2457) in 23S rRNA.


description: Catalysis of the reaction: (S)-4-amino-5-oxopentanoate = 5-aminolevulinate.


methylmalonyl-CoA mutase activity

description: Catalysis of the reaction: (R)-methylmalonyl-CoA = succinyl-CoA.


name: tRNA pseudouridine(38-40) synthase activity

description: Catalysis of the reaction: uridine(38/39/40) in tRNA = pseudouridine(38/39/40) in tRNA.


beta-phosphoglucomutase activity

description: Catalysis of the reaction: beta-D-glucose 1-phosphate = beta-D-glucose 6-phosphate.


UDP-galactopyranose mutase activity

description: Catalysis of the reaction: UDP-D-galactopyranose = UDP-D-galacto-1,4-furanose.


name: tRNA pseudouridine(31) synthase activity

description: Catalysis of the reaction: uridine(31) in tRNA = pseudouridine(31) in tRNA.


mosaic trisomy 16

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

description: Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.


name: double membrane vesicle viral factory outer membrane

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

description: The outer of the two endoplasmic reticulum-derived lipid bilayer membranes that bound a double membrane vesicle viral factory.


name: double membrane vesicle viral factory membrane

description: One of the two endoplasmic reticulum-derived lipid bilayer membranes that bound a double membrane vesicle viral factory.


name: double membrane vesicle viral factory inner membrane

description: The inner of the two endoplasmic reticulum-derived lipid bilayer membranes that bound a double membrane vesicle viral factory.


name: Postneoadjuvant Therapy Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIB includes: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Vitamin C deficiency anemia

description: Anemia associated with vitamin C deficiency.


Gastric Cardia Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the gastric cardia.


Partington syndrome

description: A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.


hydroxynaphthoquinone

Any naphthoquinone in which the naphthaoquinone moiety is substituted by at least one hydroxy group.


Any member of the class of 1,4-naphthoquinones in which the naphthoquinone moiety is substituted by at least one hydroxy group.


5-aminovalerate transaminase activity

description: Catalysis of the reaction: 2-oxoglutarate + 5-aminopentanoate = 5-oxopentanoate + L-glutamate.


description: Catalysis of the reaction: 3-octaprenyl-4-hydroxy benzoate = 2-octaprenylphenol + CO2.


name: regulation of tolerance induction to tumor cell

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

description: Any process that modulates the frequency, rate, or extent of tolerance induction to tumor cell.


name: negative regulation of natural killer cell mediated immune response to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immune response to a tumor cell.


name: negative regulation of response to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to tumor cell.


name: negative regulation of immune response to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune response to tumor cell.


name: positive regulation of T cell mediated cytotoxicity directed against tumor cell target

description: Any process that activates or increases the frequency, rate, or extent of T cell mediated cytotoxicity directed against a tumor cell target.


name: positive regulation of T cell mediated immune response to tumor cell

description: Any process that activates or increases the frequency, rate, or extent of a T cell mediated immune response to tumor cell.


name: negative regulation of T cell mediated cytotoxicity directed against tumor cell target

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated cytotoxicity directed against a tumor cell target.


name: negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated cytotoxicity directed against tumor cell target.


name: negative regulation of tolerance induction to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction to tumor cell.


name: regulation of T cell mediated cytotoxicity directed against tumor cell target

description: Any process that modulates the frequency, rate, or extent of T cell mediated cytotoxicity directed against a tumor cell target.


name: negative regulation of T cell mediated immune response to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of a T cell mediated immune response to tumor cell.


name: positive regulation of tolerance induction to tumor cell

description: Any process that activates or increases the frequency, rate, or extent of tolerance induction to tumor cell.


glucocorticoid deficiency 4

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.


nasal hair

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

description: Hair in the nose.


morphological feature

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

description: A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology.


bony projection

description: Anatomical projection that is composed of bone tissue.


barbed keratin-coated spine

description: A keratin-coated spine that is tipped with a barb.


distal limb integumentary appendage

description: A nail, hoof or claw.


strand of auchene hair

description: A truncal hair that has a single constriction and bend about midway along the hair shaft, and contains two or more air cells in the medulla.


strand of duvet hair

description: A strand of hair from the fine underhair of the coat.


tail hair

description: A strand of hair that is part of a tail.


autopod hair

description: A strand of hair that is part of a autopod region.


nail of manual digit 3

description: A nail that is part of a manual digit 3.


strand of wool

description: A strand of pelage hair that is crimped and grows in clusters.


nail of pedal digit 2

description: A nail that is part of a pedal digit 2.


primary hair

description: Very thin, soft, usually unpigmented, downy hair that is sometimes found on the body of a fetal or new-born human.


toilet claw

description: A specialized claw or nail on the foot of certain primates, used for personal grooming.


strand of pubic hair

description: A hair in the frontal genital area of adolescent and adult humans, located on and around the sex organs, the crotch, and sometimes at the top of the inside of the thighs, in the pubic region around the pubis bone.


nail of pedal digit 3

description: A nail that is part of a pedal digit 3.


keratin-coated spine

description: A modified strand of hair covered in a keratin coat, as found in porcupines and hedgehogs.


hair of trunk

description: A strand of hair that is part of a trunk.


nail of manual digit 2

description: A nail that is part of a manual digit 2.


strand of hair of face

description: A strand of hair that is part of a face.


strand of zigzag hair

description: A truncal hair that has two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla.


strand of guard hair

description: A long, straight truncal hair that contains two air cells in the medulla[MP]. A strand of hair from the top layer consisting of longer, often coarser, straight shafts of hair that stick out through the underfur. This is usually the visible layer for most mammals and contains most of the pigmentation.


strand of axillary hair

description: A strand of hair that is part of a axilla.


nail of manual digit 4

description: A nail that is part of a manual digit 4.


vellus hair

description: Short, thin, slight-colored, and barely noticeable hair that develops on most of a person's body during childhood.


pinna hair

description: A strand of hair that is part of a pinna.


nail of manual digit 1

description: A nail that is part of a manual digit 1.


strand of tylotrich hair

description: A single large hair, surrounded by neurovascular tissue at the level of the sebaceous gland, with a hair follicle innervated by a hair-tylotrich neuron (CL:1001436), a rapidly acting mechanoreceptor.


skeletal element projection

description: Anatomical projection that is composed of bone or cartilage tissue.


nail of pedal digit 5

description: A nail that is part of a pedal digit 5.


integumentary projection

description: Anatomical projection that is part of the integumentl system.


nail of manual digit 5

description: A nail that is part of a manual digit 5.


strand of pelage hair

description: A strand of hair that is part of a coat of hair.


cutaneous appendage

description: Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales.


unbarbed keratin-coated spine

description: A keratin-coated spine that is lacks a barbed end.


pes hair

description: A strand of hair that is part of a pes.


manus hair

description: A strand of hair that is part of a manus.


hair of scalp

description: Hair that grows on the scalp.


nail of manual digit

description: A nail that is part of a manual digit.


androgenic hair

description: The terminal hair that develops on the human body during and after puberty. It is differentiated from the head hair and less visible vellus hair, which is much finer and lighter in color.


ventral hair

description: A strand of hair that is part of a ventrum.


nail of pedal digit 1

description: A nail that is part of a pedal digit 1.


dorsal hair

description: A strand of hair that is part of a dorsum.


nail of pedal digit 4

description: A nail that is part of a pedal digit 4.


terminal hair

description: Thick and long hair, as compared with vellus hair growing elsewhere.


strand of awl hair

description: A truncal hairs that is straight, but shorter than a guard hair, and contain two or more air cells in the medulla.


hair of head

description: A strand of hair that is part of a head.


name: Stage IV Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IV includes: Any T, Any N, M1, Any G, Tumor location: Any.  M1: Distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Esophageal Well Differentiated Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of prominent keratinization and low mitotic activity.


name: Clinical Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IV includes: IVA: (T4, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4: Tumor invades 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. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: T0-2, N0, M0. T0: No evidence of primary tumor. 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: Cervical Esophagus Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the cervical esophagus.


name: Clinical Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: (T2, N0-1, M0); (T3, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage II includes: IIA (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X); IIB (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any).  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Stage IB Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IB includes: (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage IB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IB includes: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Stage IIIC Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIIC includes: (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any).  T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  N3: Metastasis in seven or more regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Postneoadjuvant Therapy Stage III Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage III includes: IIIA: (T0-2, N1, M0); IIIB: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage I Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage I includes: IA (T1, N0, M0, G1, GX, Tumor location: Any); IB (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Esophageal Squamous Cell Carcinoma by AJCC v7 Stage

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


name: Pathologic Stage IA Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Clinical Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIA includes: (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Refractory Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that is resistant to treatment.


name: Pathologic Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Metastatic Esophageal Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the esophagus and has metastasized to another anatomic site.


name: Pathologic Stage IIA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIA includes: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Alcohol-Related Esophageal Squamous Cell Carcinoma

description: An esophageal carcinoma that results from alcohol consumption.  The alcohol-related esophageal carcinomas are always of squamous cell type.  There is no association between alcohol consumption and esophageal adenocarcinomas.


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Postneoadjuvant Therapy Stage

description: A term that refers to the postneoadjuvant therapy staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Unresectable Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that is not amenable to surgical resection.


name: Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIIB includes: T3, N2, M0, Any G, Tumor location: Any. T3: Tumor invades adventitia. N2: Metastasis in 3-6 regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Clinical Stage III Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage III includes: (T3, N1, M0); (T1-3, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. 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: Postneoadjuvant Therapy Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


name: Esophageal Poorly Differentiated Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of basal-like malignant squamous cells that form nests, often associated with central necrosis.


name: Advanced Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment


name: Clinical Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Stage IIB Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIB includes: (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any).  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  M0: No distant metastasis.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Thoracic Esophagus Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the thoracic esophagus.


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Pathologic Stage

description: A term that refers to the pathologic staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma that arises from squamous epithelial cells infected with human papillomavirus.


name: Pathologic Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Clinical Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: T1, N0-1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. 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 IIIA Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Postneoadjuvant Therapy Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: T3, N0, M0. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Esophagus Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the distal esophagus.


name: Locally Advanced Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Esophageal Carcinoma Cuniculatum

description: An extremely rare, well-differentiated squamous cell carcinoma that arises from the esophagus. It is characterized by the presence of hyperkeratosis, acanthosis, dyskeratosis, keratin-filled cysts, koilocyte-like cells, intraepithelial neutrophils, and focal cytologic atypia.


name: Stage IA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IA includes: T1, N0, M0, G1, GX, Tumor location: Any. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIIA includes: (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Stage 0 Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage 0 includes: Tis (HGD), N0, M0, G1, GX, Tumor location: Any.  Tis: High-grade dysplasia.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Postneoadjuvant Therapy Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IVA includes: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. 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 IVA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IVA includes: (T4, N0-2, M0); (Any T, N3, M0). T4: Tumor invades 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. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIB includes: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIA includes: T0-2, N1, M0. T0: No evidence of primary tumor. 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. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage III Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage III includes: IIIA (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any); IIIB (T3, N2, M0, Any G, Tumor location: Any); IIIC (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any).  T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  N3: Metastasis in seven or more regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage III Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Stage

description: A term that refers to the staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: IIA: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle); IIB: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Clinical Stage

description: A term that refers to the clinical staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Postneoadjuvant Therapy Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IV includes: IVA: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Esophageal Spindle Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of a spindle-cell carcinomatous component.  Crossly it has a polypoid appearance and usually arises from the middle or lower third of the esophagus.


name: Esophageal Moderately Differentiated Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of variable morphologic characteristics that include areas of prominent and poor keratinization.


name: Pathologic Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: IA: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any); IB: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: idiopathic hypersomnia with long sleep time

description: Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.


Senior-Loken syndrome 5

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.


external ectoderm

description: The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm.


iridosome

description: A tissue-specific, membrane-bounded cytoplasmic organelle within which purines crystalize in reflective stacks. Iridosomes are synthesized in iridophore cells and are silver, gold or iridescent in appearance.


name: Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8

description: Stage IA includes: T1 or T2, N0, M0, Low Mitotic Rate. T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)


description: Catalysis of the reaction: acetyl-CoA + phosphinothricin = H+ + coenzyme A(4-) + N-acetylphosphinatothricinate.


fallopian tube teratoma

description: A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.


fallopian tube germ cell tumor

description: A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.


fallopian tube benign neoplasm

description: A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.


fallopian tube leiomyoma

description: A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


cancer of isthmus of fallopian tube

description: A cancer that involves the UBERON:0016632.


fallopian tube leiomyosarcoma

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


fallopian tube adenosarcoma

description: An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.


fallopian tube endometrioid tumor

description: A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


Hurting Pain

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

description: A sensation of discomfort or distress that is very unpleasant.


vesicle fusion with peroxisome

description: The joining of the lipid bilayer membrane around a vesicle with the lipid bilayer membrane around the peroxisome.


ER-dependent peroxisome organization

description: A process of peroxisome organization in which assembly or arrangement of constituent parts takes place in the endoplasmic reticulum.


glyoxysome organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the glyoxysome. A glyoxysome is a microbody that contains the enzymes of the glyoxylate pathway.


peroxisome inheritance

description: The acquisition of peroxisomes by daughter cells from the mother cell after replication. In Saccharomyces cerevisiae, the number of peroxisomes cells is fairly constant; a subset of the organelles are targeted and segregated to the bud in a highly ordered, vectorial process. Efficient segregation of peroxisomes from mother to bud is dependent on the actin cytoskeleton, and active movement of peroxisomes along actin filaments is driven by the class V myosin motor protein, Myo2p.


ER-dependent peroxisome localization

description: A process in which a protein is transported to, or maintained at, a location in a peroxisome via the endoplasmic reticulum.


Demodex folliculitis

description: A demodicidosis that involves the hair follicle.


demodicidosis

description: Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.


demodicidosis of sebaceous gland

description: A demodicidosis that involves the sebaceous gland.


Mold or Dust Allergy

description: An allergic reaction triggered by exposure to airborne allergens expressed by dust mites or molds.


hypersensitivity reaction disease

description: An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.


Cat allergy (disorder)

description: An allergic reaction triggered by exposure to allergens expressed by cats, includes allergenic factors found in feline saliva and dander.


Processed Food Allergy

description: An allergic reaction triggered by exposure to allergens found in processed foods.


Shellfish allergy

description: An allergic reaction triggered by exposure to allergens found in foods containing molluscs, crustaceans or echinoderms.


Dog Allergy

description: An allergic reaction triggered by exposure to allergens expressed by dogs, includes allergenic factors found in canine saliva and dander.


Venomous Ant Bite Allergy

description: An allergic reaction triggered by exposure to ant venom, usually as a result of being bitten by a fire ant (Solenopsis spp.).


Allergy to fruit

description: An allergic reaction triggered by exposure to foodborne allergens found in fruit.


type III hypersensitivity disease

description: Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.


Allergy to bee venom

description: An allergic reaction triggered by being exposed to bee venom following a bee sting.


Contact hypersensitivity

description: Contact hypersensitivity is an inflammatory response induced by antigen-reactive T cells that are exposed to antigen on the skin surface (epidermis).  Poison ivy is a frequent cause of such reactivity, due to the urushiol from the plant, as are a variety of antigens derived from industrial exposure (e.g. rubber, chromate, nickel).  These antigens induce the appearance of Th1-like T cells, which presumably produce IFN to activate macrophages.


Wasp Sting Allergy

description: An allergic reaction triggered by being exposed to wasp venom following a wasp sting.


Dairy or Lactose Intolerance Allergy

description: An allergic reaction triggered by exposure to allergens found in foods containing lactose or other dairy components.


name: Hypersensitivity reaction mediated by antibody

description: A hypersensitivity reaction mediated by antibodies formed against cell surface antigens.


Blast Phase Myeloproliferative Neoplasm

description: Transformation of a myeloproliferative neoplasm into acute myeloid leukemia, typically via accelerated phase myeloproliferative neoplasm. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


Blast Phase Primary Myelofibrosis

description: Transformation of primary myelofibrosis into acute myeloid leukemia, typically via accelerated phase primary myelofibrosis. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


Kasabach-Merritt syndrome

description: Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.


gonococcal synovitis

description: An synovitis (disease) caused by infection with Neisseria gonorrhoeae.


gonococcal infection of joint

description: Arthritis caused by bacterial infection with Neisseria gonorrhoeae.


sclerema neonatorum

description: A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.


glycine formimidoyltransferase activity

description: Catalysis of the reaction: 5-formimidoyltetrahydrofolate + glycine = (6S)-5,6,7,8-tetrahydrofolate + N-formimidoylglycine.


name: Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Fracture of Long Bone Related to Birth

description: An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


limb

description: A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts.


right hindlimb

description: A hindlimb that is on the right side of a pelvic complex.


forelimb wing

description: Forelimb that is used to produce lift for flight through the air.


hind flipper

description: Hindlimb that is used to propel an animal through water.


right forelimb

description: A forelimb that is on the right side of a pectoral complex.


left hindlimb

description: A hindlimb that is on the left side of a pelvic complex.


left forelimb

description: A forelimb that is on the left side of a pectoral complex.


alpha-mannosidosis

description: Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.


beta-mannosidosis

description: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.


name: anemia, nonspherocytic hemolytic, due to G6PD deficiency

description: Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


name: anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


name: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


name: establishment of cell polarity regulating cell shape

description: Any cellular process that results in the specification or formation of a polarized intracellular organization or cell growth pattern that regulates the shape of a cell.


inferior vagus X ganglion

description: The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve).


ganglion of central nervous system

description: A ganglion that is part of a central nervous system [Automatically generated definition].


name: facio-acoustic VII-VIII preganglion complex


vagus X ganglion

description: The group of sensory neuron cell bodies associated with the vagus nerve.


glossopharyngeal ganglion

description: The group of neuron cell bodies associated with the ninth cranial nerve.


superior vagus X ganglion

description: The upper ganglion of the vagus nerve located at the jugular foramen.


vestibular ganglion

description: The ganglion of the vestibular nerve. It contains the cell bodies of the bipolar primary afferent neurons whose peripheral processes form synaptic contact with hair cells of the vestibular sensory end organs[WP,unvetted]. Distributed to the maculae of the utricle and saccule and to the ampullary crests of the semicircular ducts. The vestibular fibers arise in bipolar cells in the vestibular ganglion in the internal acoustic meatus.


name: glossopharyngeal-vagus IX-X preganglion complex


inferior glossopharyngeal IX ganglion

description: The lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve[MP]. It is situated in a depression in the lower border of the petrous portion of the temporal bone[WP].


superior glossopharyngeal IX ganglion

description: The upper ganglion of the glossopharyngeal nerve[MP]. is situated in the upper part of the groove in which the glossopharyngeal nerve is lodged during its passage through the jugular foramen. It is very small, and is usually regarded as a detached portion of the inferior ganglion.


vestibulocochlear ganglion

description: The group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia.


cranial ganglion

description: The groups of nerve cell bodies associated with the twelve cranial nerves.


name: vestibulo-cochlear VIII ganglion complex


cochlear ganglion

description: The group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)[MP]. distributed to the hair cells of the spiral organ. The cochlear fibers arise in bipolar cells in the spiral ganglion in the modiolus.


name: acoustico-facial VII-VIII ganglion complex


name: glossopharyngeal-vagus IX-X ganglion complex


name: heritable pulmonary arterial hypertension

description: Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


left ovary

description: An ovary that is part of a left side of organism [Automatically generated definition].


name: female germ-line stem cell asymmetric division

description: The self-renewing division of a germline stem cell in the female gonad, to produce a daughter stem cell and a daughter germ cell, which will divide to form the female gametes.


name: symmetric division of skeletal muscle satellite stem cell

description: The symmetric division of a skeletal muscle satellite stem cell, resulting in two skeletal muscle satellite stem cells. This process is involved in amplification of the pool of these cells.


name: skeletal muscle satellite stem cell asymmetric division

description: The asymmetric division of a skeletal muscle satellite stem cell to produce two daughter cells, one of which is destined to differentiate and the other to be a quiescent cell that restocks the satellite cell pool.


name: male germline stem cell symmetric division

description: The symmetric division of a male germline stem cell to produce two male germline stem cells. An example of this is found in mammalian spermatogonial stem cells, some proportion of which divide symmetrically, so amplifying the population. The choice between asymmetric and symmetric division in this case appears to be internal and stochastic.


name: female germline stem cell symmetric division

description: Division of a female germline stem cell to produce two germline stem cells of the same type as the parent.


germline stem cell symmetric division

description: Division of a germline stem cell to produce two germline stem cells of the same type as the parent.


symmetric stem cell division

description: Symmetric division of a stem cell to produce two stem cells of the same type as the parent. Symmetric stem cell division is necessary for amplification of stem cell populations in the absence of sources of stem cells external to an existing population.


name: skeletal muscle satellite stem cell asymmetric division involved in skeletal muscle regeneration

description: Skeletal muscle satellite cell asymmetric division that occurs during a process in which damaged muscle tissue is being rebuilt.


denitrification pathway

description: The reduction of nitrate to dinitrogen by four reactions; each intermediate is transformed to the next lower oxidation state; also part of cellular bioenergetics; the nitrogen compounds can serve as terminal acceptors for electron transport phosphorylation in place of oxygen.


folic acid deficiency anemia

description: Anemia caused by folate deficiency.


name: neural crest cell migration involved in heart formation

description: The characteristic movement of a cell from the dorsal ridge of the neural tube towards the heart and that contributes to heart formation.


mesenchymal cell migration

description: The orderly movement of a mesenchymal cell from one site to another, often during the development of a multicellular organism.


name: dorsolateral trunk neural crest cell migration

description: The movement of trunk neural crest cells from the neural tube, travelling dorso-laterally into the ectoderm and continuing toward the ventral midline of the belly. These migrating trunk neural crest cells become melanocytes, the melanin-forming pigment cells.


name: mesenchymal cell migration involved in limb bud formation

description: The orderly movement of a mesenchymal cell from one site to another that will contribute to the formation of a limb bud.


name: neural crest cell migration involved in sympathetic nervous system development

description: Any neural crest cell migration that is involved in sympathetic nervous system development.


octopamine receptor activity

description: Combining with the biogenic amine octopamine to initiate a change in cell activity. Octopamine is found in both vertebrates and invertebrates and can have properties both of a hormone and a neurotransmitter and acts as an adrenergic agonist.


complement-mediated synapse pruning

description: Synaptic pruning mediated by complement system signaling.


Childhood Acute Eosinophilic Leukemia

description: An acute eosinophilic leukemia occurring in children.


trisomy 8q

description: Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.


chromosome 8 disorder

description: Chromosomal disorder in which chromosome 8 is affected.


name: partial duplication of the short arm of chromosome 8

description: Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


chromosome 8, trisomy

description: A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.


name: chromosome 8Q12.1-q21.2 deletion syndrome


monosomy chromosome 8

description: A chromosomal disorder consisting of the absence of one chromosome 8.


8q22.1 microdeletion syndrome

description: The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


8p23.1 duplication syndrome

description: 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).


name: partial deletion of the long arm of chromosome 8

description: Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


8p23.1 microdeletion syndrome

description: 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.


distal trisomy 8q

description: Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).


name: partial deletion of the short arm of chromosome 8

description: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


name: partial duplication of the long arm of chromosome 8


mesomelia-synostoses syndrome

description: A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.


mosaic trisomy 8

description: Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.


chromosome 8q21.11 deletion syndrome

description: Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.


8p11.2 deletion syndrome

description: 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.


8q12 microduplication syndrome

description: The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.


name: 8p inverted duplication/deletion syndrome

description: 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


trisomy 8p

description: Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.


CIC-rearranged sarcoma

description: An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.


Childhood CIC-Rearranged Sarcoma

description: A CIC-rearranged sarcoma that occurs during childhood.


name: Central Nervous System CIC-Rearranged Sarcoma

description: A rare, undifferentiated, high grade small round cell sarcoma that arises from the central nervous system. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 resulting in CIC gene fusion with different gene partners.


CIC-DUX4L Sarcoma

description: An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4L gene on chromosome 10. The translocation results in CIC-DUX4L, t(10;19)(q26;q13) fusions.


artery of upper lip

description: The superior labial artery (superior labial branch of facial artery) is larger and more tortuous than the inferior labial artery. It follows a similar course along the edge of the upper lip, lying between the mucous membrane and the Orbicularis oris, and anastomoses with the artery of the opposite side. It supplies the upper lip, and gives off in its course two or three vessels which ascend to the nose; a septal branch ramifies on the nasal septum as far as the point of the nose, and an alar branch supplies the ala of the nose.


disease

description: A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


name: sporadic adult-onset ataxia of unknown etiology

description: Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.


name: hypogonadotropic hypogonadism 13 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


name: craniosynostosis arthrogryposis cleft palate


baclofen withdrawal syndrome

description: Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.


name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

description: The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.


name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

description: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


acute pharyngitis

description: An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.


benign melanocytic skin nevus

description: A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.


abducens nerve palsy

description: Paralysis of the abducens nerve.


classic congenital adrenal hyperplasia

description: A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.


brittle cornea syndrome 2

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.


Guillain-Barre syndrome, familial

description: A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


associative visual agnosia

description: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.


name: polydactyly of an index finger, unilateral


name: congenital generalized lipodystrophy type 1

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


pedophilia

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.


inflammatory disease

description: A disease involving a pathogenic inflammatory response in the anatomical structure.


name: intellectual disability, autosomal recessive 29


necrotizing sialometaplasia

description: A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.


dendritic cell sarcoma

description: A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

description: Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.


cyanide-induced parkinsonism

description: Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.


name: autosomal recessive non-syndromic intellectual disability

description: Autosomal recessive form of non-syndromic intellectual disability.


trisomy 21

description: A chromosomal disorder consisting of the presence of an extra chromosome 21.


name: mirror movements 1 and/or agenesis of the corpus callosum

description: A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).


5-fluorouracil poisoning

description: 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.


Flaviviridae infectious disease

description: Infections with viruses of the family flaviviridae.


name: endometrioid stromal and related neoplasms

description: A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.


name: short stature with microcephaly and distinctive facies


panic disorder without agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.


prostate neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.


Al Gazali Khidr Prem Chandran syndrome

description: A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.


acute quadriplegic myopathy

description: Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.


oculomotor nerve neoplasm

description: A neoplasm involving a oculomotor nerve.


haemophilus meningitis

description: Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.


nonsyndromic congenital nail disorder 1

description: Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.


name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

description: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.


seminal vesicle tumor

description: A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.


precocious puberty, central, 2

description: Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


infiltrating angiolipoma

description: An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.


name: radiation sensitivity/chromosome instability syndrome, autosomal dominant


hemi-myeloschisis

description: A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis 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 myeloschisis.


name: malignant migrating partial seizures of infancy

description: A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.


name: hereditary sensory and autonomic neuropathy

description: An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.


Lewis-Sumner syndrome

description: A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.


name: autosomal recessive congenital ichthyosis 4A

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.


late latent syphilis

description: Latent syphilis when infection was acquired more than twelve months previously.


NAA10-related syndrome

description: Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.


vernal keratoconjunctivitis

description: Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

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


description: Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.


name: intellectual disability, autosomal recessive 58

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.


hypertension, pregnancy-induced

description: A hypertensive disorder that develops during pregnancy.


hyperlipoproteinemia, type 1D

description: Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


name: megalencephalic leukoencephalopathy with subcortical cysts 1


name: pelvic dysplasia-arthrogryposis of lower limbs syndrome


name: early T cell progenitor acute lymphoblastic leukemia

description: T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.


UROD-related inherited porphyria

description: Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.


allergic bronchopulmonary aspergillosis

description: Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.


endocrine tuberculosis

description: Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.


uterine corpus carcinofibroma

description: An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.


name: non-recovering obstetric brachial plexus lesion


name: complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

description: A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.


name: spastic paraplegia 80, autosomal dominant


name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


disorder of gluconeogenesis

description: An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.


vascular parkinsonism

description: A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.


focal segmental glomerulosclerosis 9

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.


name: congenital anomalies of kidney and urinary tract 3


name: intellectual developmental disorder, autosomal dominant 72

description: An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.


hypoglossal nerve disorder

description: A disease involving the hypoglossal nerve.


eccrine acrospiroma

description: A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.


name: lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

description: An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).


monosomy 21

description: Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.


name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

description: Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.


name: growth delay due to insulin-like growth factor type 1 deficiency

description: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


name: familial hyperinflammatory lymphoproliferative immunodeficiency


name: lissencephaly spectrum disorder with complex brainstem malformation

description: A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).


WT limb-blood syndrome

description: WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.


fetal akinesia deformation sequence 1

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.


sciatic neuropathy

description: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)