tyrosine 2,3-aminomutase activity

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


snRNA pseudouridine synthase activity

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

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.


leucine 2,3-aminomutase activity

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


oxidosqualene cyclase activity

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


phosphopentomutase activity

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


baruol synthase activity

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

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


beta-galactosidase activity (lactose isomerization)

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


Catalysis of the reaction: maltose = trehalose.


2-methyleneglutarate mutase activity

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


21S rRNA pseudouridine(2819) synthase activity

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


2,3-bisphosphoglycerate-independent phosphoglycerate mutase activity

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


marneral synthase activity

Catalysis of the reaction: oxidosqualene = marneral.


phosphoglucosamine mutase activity

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


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


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

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


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

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


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


lysolecithin acylmutase activity

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


D-ribose pyranase activity

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


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


lupeol synthase activity

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


tRNA pseudouridine(65) synthase activity

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


23S rRNA pseudouridine(2605) synthase activity

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


D-lysine 5,6-aminomutase activity

Catalysis of the reaction: D-lysine = 2,5-diaminohexanoate.


phosphoenolpyruvate mutase activity

Catalysis of the reaction: phosphoenolpyruvate = 3-phosphonopyruvate.


tRNA pseudouridine synthase activity

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.


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


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


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.


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


precorrin-8X methylmutase activity

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


alpha-amyrin synthase activity

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

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


isobutyryl-CoA mutase activity

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


D-ornithine 4,5-aminomutase activity

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


23S rRNA pseudouridine(2457) synthase activity

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


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


methylmalonyl-CoA mutase activity

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


tRNA pseudouridine(38-40) synthase activity

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


beta-phosphoglucomutase activity

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


UDP-galactopyranose mutase activity

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


tRNA pseudouridine(31) synthase activity

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


mosaic trisomy 16

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

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.


double membrane vesicle viral factory outer membrane

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

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


double membrane vesicle viral factory membrane

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


double membrane vesicle viral factory inner membrane

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


Postneoadjuvant Therapy Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

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

Anemia associated with vitamin C deficiency.


Gastric Cardia Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the gastric cardia.


Partington syndrome

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

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


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


regulation of tolerance induction to tumor cell

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

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


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

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


negative regulation of response to tumor cell

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


negative regulation of immune response to tumor cell

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


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

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


positive regulation of T cell mediated immune response to tumor cell

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


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

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


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

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


negative regulation of tolerance induction to tumor cell

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


regulation of T cell mediated cytotoxicity directed against tumor cell target

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


negative regulation of T cell mediated immune response to tumor cell

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


positive regulation of tolerance induction to tumor cell

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


glucocorticoid deficiency 4

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


nasal hair

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

Hair in the nose.


morphological feature

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

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


bony projection

Anatomical projection that is composed of bone tissue.


barbed keratin-coated spine

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


distal limb integumentary appendage

A nail, hoof or claw.


strand of auchene hair

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

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


tail hair

A strand of hair that is part of a tail.


autopod hair

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


nail of manual digit 3

A nail that is part of a manual digit 3.


strand of wool

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


nail of pedal digit 2

A nail that is part of a pedal digit 2.


primary hair

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


toilet claw

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


strand of pubic hair

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

A nail that is part of a pedal digit 3.


keratin-coated spine

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


hair of trunk

A strand of hair that is part of a trunk.


nail of manual digit 2

A nail that is part of a manual digit 2.


strand of hair of face

A strand of hair that is part of a face.


strand of zigzag hair

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

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

A strand of hair that is part of a axilla.


nail of manual digit 4

A nail that is part of a manual digit 4.


vellus hair

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


pinna hair

A strand of hair that is part of a pinna.


nail of manual digit 1

A nail that is part of a manual digit 1.


strand of tylotrich hair

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

Anatomical projection that is composed of bone or cartilage tissue.


nail of pedal digit 5

A nail that is part of a pedal digit 5.


integumentary projection

Anatomical projection that is part of the integumentl system.


nail of manual digit 5

A nail that is part of a manual digit 5.


strand of pelage hair

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


cutaneous appendage

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

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


pes hair

A strand of hair that is part of a pes.


manus hair

A strand of hair that is part of a manus.


hair of scalp

Hair that grows on the scalp.


nail of manual digit

A nail that is part of a manual digit.


androgenic hair

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

A strand of hair that is part of a ventrum.


nail of pedal digit 1

A nail that is part of a pedal digit 1.


dorsal hair

A strand of hair that is part of a dorsum.


nail of pedal digit 4

A nail that is part of a pedal digit 4.


terminal hair

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


strand of awl hair

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

A strand of hair that is part of a head.


Stage IV Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Esophageal Well Differentiated Squamous Cell Carcinoma

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


Clinical Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage I Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Cervical Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the cervical esophagus.


Clinical Stage II Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage II Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage IB Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage IB Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage IIIC Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Postneoadjuvant Therapy Stage III Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage I Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Esophageal Squamous Cell Carcinoma by AJCC v7 Stage

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


Pathologic Stage IA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Clinical Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Refractory Esophageal Squamous Cell Carcinoma

Esophageal squamous cell carcinoma that is resistant to treatment.


Pathologic Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Metastatic Esophageal Squamous Cell Carcinoma

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


Pathologic Stage IIA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Alcohol-Related Esophageal Squamous Cell Carcinoma

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.


Esophageal Squamous Cell Carcinoma by AJCC v8 Postneoadjuvant Therapy Stage

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


Pathologic Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


Unresectable Esophageal Squamous Cell Carcinoma

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


Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Clinical Stage III Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


Esophageal Poorly Differentiated Squamous Cell Carcinoma

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


Advanced Esophageal Squamous Cell Carcinoma

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


Clinical Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage IIB Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Thoracic Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the thoracic esophagus.


Esophageal Squamous Cell Carcinoma by AJCC v8 Pathologic Stage

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


Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma

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


Pathologic Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Clinical Stage I Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Pathologic Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage II Esophageal Squamous Cell Carcinoma AJCC v8

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


Distal Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the distal esophagus.


Locally Advanced Esophageal Squamous Cell Carcinoma

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


Esophageal Carcinoma Cuniculatum

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.


Stage IA Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage 0 Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Postneoadjuvant Therapy Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Clinical Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Pathologic Stage IIB Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage III Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage III Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Esophageal Squamous Cell Carcinoma by AJCC v8 Stage

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


Pathologic Stage II Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Esophageal Squamous Cell Carcinoma by AJCC v8 Clinical Stage

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


Postneoadjuvant Therapy Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

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

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.


Esophageal Moderately Differentiated Squamous Cell Carcinoma

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


Pathologic Stage I Esophageal Squamous Cell Carcinoma AJCC v8

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.)


idiopathic hypersomnia with long sleep time

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

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


external ectoderm

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


iridosome

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.


Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8

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.)


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


fallopian tube teratoma

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


fallopian tube germ cell tumor

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


fallopian tube benign neoplasm

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


fallopian tube leiomyoma

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

A cancer that involves the UBERON:0016632.


fallopian tube leiomyosarcoma

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


fallopian tube adenosarcoma

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

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

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

A sensation of discomfort or distress that is very unpleasant.


vesicle fusion with peroxisome

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


ER-dependent peroxisome organization

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


glyoxysome organization

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

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

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


Demodex folliculitis

A demodicidosis that involves the hair follicle.


demodicidosis

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

A demodicidosis that involves the sebaceous gland.


Mold or Dust Allergy

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


hypersensitivity reaction disease

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)

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


Processed Food Allergy

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


Shellfish allergy

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


Dog Allergy

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


Venomous Ant Bite Allergy

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

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


type III hypersensitivity disease

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

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


Contact hypersensitivity

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

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


Dairy or Lactose Intolerance Allergy

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


Hypersensitivity reaction mediated by antibody

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


Blast Phase Myeloproliferative Neoplasm

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

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

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

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


gonococcal infection of joint

Arthritis caused by bacterial infection with Neisseria gonorrhoeae.


sclerema neonatorum

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

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


Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

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

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


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


limb

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

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


forelimb wing

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


hind flipper

Hindlimb that is used to propel an animal through water.


right forelimb

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


left hindlimb

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


left forelimb

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


alpha-mannosidosis

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


beta-mannosidosis

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.


anemia, nonspherocytic hemolytic, due to G6PD deficiency

An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with 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.


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


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


establishment of cell polarity regulating cell shape

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

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

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


facio-acoustic VII-VIII preganglion complex


vagus X ganglion

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


glossopharyngeal ganglion

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


superior vagus X ganglion

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


vestibular ganglion

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.


glossopharyngeal-vagus IX-X preganglion complex


inferior glossopharyngeal IX ganglion

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

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

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

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


vestibulo-cochlear VIII ganglion complex


cochlear ganglion

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.


acoustico-facial VII-VIII ganglion complex


glossopharyngeal-vagus IX-X ganglion complex


heritable pulmonary arterial hypertension

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

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


female germ-line stem cell asymmetric division

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.


symmetric division of skeletal muscle satellite stem cell

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.


skeletal muscle satellite stem cell asymmetric division

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.


male germline stem cell symmetric division

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.


female germline stem cell symmetric division

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

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


symmetric stem cell division

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.


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

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


disease

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


sporadic adult-onset ataxia of unknown etiology

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.


hypogonadotropic hypogonadism 13 with or without anosmia

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


craniosynostosis arthrogryposis cleft palate


baclofen withdrawal syndrome

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.


hereditary thrombocytopenia and hematologic cancer predisposition syndrome

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.


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

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

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

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

Paralysis of the abducens nerve.


classic congenital adrenal hyperplasia

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

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


Guillain-Barre syndrome, familial

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.


neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


associative visual agnosia

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


polydactyly of an index finger, unilateral


congenital generalized lipodystrophy type 1

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


pedophilia

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


inflammatory disease

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


intellectual disability, autosomal recessive 29


necrotizing sialometaplasia

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

A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

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

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.


autosomal recessive non-syndromic intellectual disability

Autosomal recessive form of non-syndromic intellectual disability.


trisomy 21

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


mirror movements 1 and/or agenesis of the corpus callosum

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

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

Infections with viruses of the family flaviviridae.


endometrioid stromal and related neoplasms

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.


short stature with microcephaly and distinctive facies


panic disorder without agoraphobia

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

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

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

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

A neoplasm involving a oculomotor nerve.


haemophilus meningitis

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

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.


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

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

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


precocious puberty, central, 2

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


infiltrating angiolipoma

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


radiation sensitivity/chromosome instability syndrome, autosomal dominant


malignant migrating partial seizures of infancy

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.


hereditary sensory and autonomic neuropathy

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


Lewis-Sumner syndrome

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.


autosomal recessive congenital ichthyosis 4A

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


late latent syphilis

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


NAA10-related syndrome

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

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.


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

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.


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.


intellectual disability, autosomal recessive 58

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


hypertension, pregnancy-induced

A hypertensive disorder that develops during pregnancy.


hyperlipoproteinemia, type 1D

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


megalencephalic leukoencephalopathy with subcortical cysts 1


pelvic dysplasia-arthrogryposis of lower limbs syndrome


early T cell progenitor acute lymphoblastic leukemia

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

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


allergic bronchopulmonary aspergillosis

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

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


uterine corpus carcinofibroma

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.


non-recovering obstetric brachial plexus lesion


complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

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.


spastic paraplegia 80, autosomal dominant


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


disorder of gluconeogenesis

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


focal segmental glomerulosclerosis 9

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


congenital anomalies of kidney and urinary tract 3


intellectual developmental disorder, autosomal dominant 72

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

A disease involving the hypoglossal nerve.


eccrine acrospiroma

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.


lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

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


monosomy 21

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.


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

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.


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

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.


familial hyperinflammatory lymphoproliferative immunodeficiency


lissencephaly spectrum disorder with complex brainstem malformation

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

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

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


sciatic neuropathy

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)


axial spondylometaphyseal dysplasia

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


centrifugal lipodystrophy

Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.


torsion dystonia 17

A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


familial bicuspid aortic valve

A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).


immunodeficiency 76

An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


autosomal recessive pseudohypoaldosteronism type 1

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.


congenital heart defects, multiple types, 3


seminal vesicle acute gonorrhea

Acute form of gonococcal seminal vesiculitis.


hyperparathyroidism 2 with jaw tumors

An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


hereditary angioedema with normal C1inh not related to F12 or PLG variant


trench fever

An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.


ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.


encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


infectious disease, non-human animal

Infectious disease that occurs in non-human animals.


opisthorchiasis

Infection with flukes of the genus Opisthorchis.


chromosome 13 disorder

Chromosomal disorder in which chromosome 13 is affected.


st. Louis encephalitis

A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)


adult onset pityriasis rubra pilaris

A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.


inflammatory myofibroblastic tumor

A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.


chronic pain syndrome

Chronic form of disorder involving pain.


neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


combined oxidative phosphorylation deficiency 28

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


metachromatic leukodystrophy, adult form


undifferentiated connective tissue syndrome

An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.


peroxisome biogenesis disorder due to PEX11B defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

A cataract that has material basis in mutation in the region 14q22-q23.


autosomal recessive congenital ichthyosis 4B

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.


testicular sex cord-stromal neoplasm

A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.


neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


primary ciliary dyskinesia 23

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


transient pseudohypoaldosteronism

Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.


neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


immunodeficiency 115 with autoinflammation


Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


morphine dependence

Strong dependence, both physiological and emotional, upon morphine.


podoconiosis

A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


mitochondrial complex 1 deficiency, nuclear type 4


uterine corpus endometrial stromal sarcoma

A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


inflammatory leiomyosarcoma

A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


ciliary dyskinesia, primary, 48, without situs inversus


retinitis pigmentosa 3

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


myotonic dystrophy

An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.


acrocephalopolysyndactyly

A common presentation of craniosynostosis and polysyndactyly.


microcephaly, seizures, and developmental delay


chromosome 8, trisomy

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


familial rhabdoid tumor

A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


cataract 10 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


atrial fibrillation, familial, 3

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


B-lymphoblastic leukemia/lymphoma with IAMP21

A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.


autoimmune disorder of musculoskeletal system

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


retinitis pigmentosa 46

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


sporadic hemiplegic migraine

A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.


methemoglobinemia due to deficiency of methemoglobin reductase


focal dermal hypoplasia

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


basal ganglia calcification, idiopathic, 8, autosomal recessive


dry age related macular degeneration

Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


Lelis syndrome

Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


hereditary spastic paraplegia 53

A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.


symmetrical thalamic calcifications

Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.


hereditary sensory neuropathy X-linked

A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.


chronic pulmonary heart disease

Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.


autosomal recessive nonsyndromic hearing loss 88

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.


combined oxidative phosphorylation deficiency

A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.


GUCY2D-related dominant retinopathy

A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.


exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.


myeloid neoplasm associated with PDGFRA rearrangement

A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.


neoplasm with perivascular epithelioid cell differentiation

A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.


urachal sinus

Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.


hereditary spastic paraplegia 2

Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.


triopia

A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


mirror agnosia

An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.


Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.


Reoviridae infectious disease

Infections produced by reoviruses, general or unspecified.


Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.


methylcobalamin deficiency type cblG

Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.


Hao-Fountain syndrome due to 16p13.2 microdeletion

A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.


mesothelial neoplasm

A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003


thoracic disk degenerative disorder

Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.


duplication/inversion 15q11

Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.


trigeminal autonomic cephalalgia

A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.


urethra leiomyoma

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


granulomatous endometritis

Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.


Oguchi disease-2

Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.


avian influenza

Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.


cytophagic histiocytic panniculitis

Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


tetrasomy 5p

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).


aminoacylase 1 deficiency

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


GUCY2D-related recessive retinopathy

A retinopathy caused by biallelic variants in the GUCY2D gene.


hypouricemia, familial renal, due to tubular hypersecretion


painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acquired motor neuron disease

An instance of motor neuron disease that is acquired during the lifetime of the individual.


acromesomelic dysplasia, Campailla Martinelli type


autosomal dominant Charcot-Marie-Tooth disease type 2K

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.


coronary artery disease, autosomal dominant 2

Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


agenesis of the superior vena cava

Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.


chronic rheumatic pericarditis

Chronic form of rheumatic pericarditis.


nasal cavity inverting papilloma

A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.


neuronal ceroid lipofuscinosis 8

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.