Pathologic Stage I Gastric Cancer AJCC v8

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


Pathologic Stage III Gastric Cancer AJCC v8

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

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


Pathologic Stage IB Gastric Cancer AJCC v8

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


Gastric Cancer by AJCC v8 Clinical Stage

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


Pathologic Stage 0 Gastric Cancer AJCC v8

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


Postneoadjuvant Therapy Stage IV Gastric Cancer AJCC v8

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


polyazaalkane

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


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

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


tyrosine-protein kinase Fer

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


tyrosine-protein kinase Fer isoform 1 (human)

A tyrosine-protein kinase Fer (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P16591-1.


tyrosine-protein kinase Fer isoform 3 (human)

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


tyrosine-protein kinase Fer isoform h2 (human)

A tyrosine-protein kinase Fer (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P16591-2.


Esophageal Atresia/Tracheoesophageal Fistula Type C

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


diamine acetyltransferase 1 isoform 1 (human)

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


diamine acetyltransferase 1 methylated 1 (human)

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


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

An eIF-2-alpha kinase GCN2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P2K8-2.


Grade 4 Gallbladder Obstruction, CTCAE

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

Life-threatening consequences; urgent operative intervention indicated


Childhood Sclerosing Epithelioid Fibrosarcoma

A sclerosing epithelioid fibrosarcoma that occurs during childhood.


Sclerosing Epithelioid Fibrosarcoma

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


serine/threonine-protein kinase PRKX

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


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

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


Tracheoarterial Fistula

An erosion through the tracheal wall into an artery.


Testicular Myeloid Sarcoma

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


Phosphaturic mesenchymal tumor, benign

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


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

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


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

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


vertebral, cardiac, renal, and limb defects syndrome 3


congenital vertebral-cardiac-renal anomalies syndrome


vertebral, cardiac, renal, and limb defects syndrome 1


vertebral, cardiac, renal, and limb defects syndrome 2


Grade 1 Neonatal Rash, AE

An adverse event in a newborn characterized by localized rash.


cyclin-dependent kinase 9 phosphorylated 1 (human)

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


age related macular degeneration 1

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


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

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


Jejunal Melanoma

A melanoma that arises from the jejunum.


Jejunal Carcinoma

A carcinoma that arises from the jejunum.


tumor necrosis factor isoform 1 myristoylated 1 (human)

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


Grade 4 Vasovagal Reaction, CTCAE

Life-threatening consequences; urgent intervention indicated


African histoplasmosis

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


Histoplasma capsulatum infectious disease

An disease or disorder caused by infection with Histoplasma capsulatum.


histoplasmosis meningitis

An infectious meningitis caused by infection with Histoplasma capsulatum.


histoplasmosis retinitis

An retinitis caused by infection with Histoplasma capsulatum.


macular corneal dystrophy

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


Fuchs' endothelial dystrophy

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


gelatinous drop-like corneal dystrophy

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


Mounier-Kuhn syndrome

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


genochondromatosis type 1

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


genochondromatosis type 2

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


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

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


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


Adverse Event Attributed to Investigational New Drug

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


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

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


beta adrenergic receptor

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


beta-1 adrenergic receptor isoform 1 (mouse)

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


beta-1 adrenergic receptor isoform 1 (rat)

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


beta-3 adrenergic receptor isoform A (mouse)

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


beta-3 adrenergic receptor

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


beta-2 adrenergic receptor phosphoserine form (human)

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


beta-1 adrenergic receptor

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


beta-1 adrenergic receptor phosphorylated 1 (human)

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


beta-2 adrenergic receptor ubiquitinated form (human)

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


beta-2 adrenergic receptor

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


beta-2 adrenergic receptor phosphorylated 1 (human)

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


beta-3 adrenergic receptor isoform B (mouse)

A beta-3 adrenergic receptor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P25962-2.


beta-3 adrenergic receptor isoform 1 (rat)

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


Stage IV Adult Hodgkin Lymphoma

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


Esophageal squamous cell carcinoma recurrent

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


benign neoplasm of lacrimal gland

A benign neoplasm that involves the lacrimal gland.


lacrimal gland neoplasm

A neoplasm (disease) that involves the lacrimal gland.


lacrimal gland cancer

A malignant neoplasm involving the lacrimal gland.


vasoactive intestinal polypeptide receptor 1 isoform Long (human)

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


Grade 1 Hypercalcemia, CTCAE

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


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

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


Stargardt disease 4

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


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

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


Grade 1 Muscle Intra-Operative Injury, CTCAE


Sporadic Cylindroma

A cylindroma occurring as a solitary sporadic lesion.


histone deacetylase 1 cysteinylated 1 (human)

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


Closed fracture of mandible, multiple sites

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


Descending Colon Neuroendocrine Tumor G1

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


Elevated Alpha-Hydroxyglutarate

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


Grade 1 Dyspnea, CTCAE

Shortness of breath with moderate exertion


20q11.2 microdeletion syndrome

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


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

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


Resectable Renal Cell Carcinoma

Renal cell carcinoma that is amenable to surgical resection.


alpha-2A adrenergic receptor isoform 1 (human)

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


alpha-2A adrenergic receptor isoform 1 (mouse)

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


urethral calculus

A concretion in the urethra.


prostate-specific antigen N-glycosylated 26 (human)

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


retinitis pigmentosa 42

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


TDP-43 proteinopathy

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


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

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


4p16.3 microduplication syndrome

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


Grade 2 Liver Dysfunction or Failure by Clinical Classification, CTCAE


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

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


developmental and epileptic encephalopathy, 62


Intraocular Infection

Infection within the eye.


parasitic endophthalmitis

Infection of the epicondyles by a parasite.


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


autoimmune vasculitis

An autoimmune form of vasculitis.


Benign Epithelial Melanoses of the Conjunctiva

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


heat shock protein HSP 90-beta phosphorylated 3 (human)

A heat shock protein HSP 90-beta (human) that has been phosphorylated on the residue at the position equivalent to Ser-452 of the amino acid sequence represented by UniProtKB:P08238. UniProtKB:P08238, Ser-452, MOD:00046.


Recurrent Breast Acinic Cell Carcinoma

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


immunoskeletal dysplasia with neurodevelopmental abnormalities


cranial nodular fasciitis

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


ATP-binding cassette sub-family C member 9 sequence variant R1154Q (human)

An ATP-binding cassette sub-family C member 9 (human) that has a Gln residue at the position equivalent to Arg-1154 of the amino acid sequence represented by UniProtKB:O60706-1. Example: UniProtKB:O60706-1, Arg-1154, CHEBI:30011.


Stage V Kidney Wilms Tumor

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


sodium channel subunit beta-1 isoform 1 (human)

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


cathepsin L2 cysteinylated 1 (human)

A cathepsin L2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-270 of the amino acid sequence represented by UniProtKB:O60911. UniProtKB:O60911, Cys-270, MOD:00765.


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

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


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

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


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

A tyrosine-protein kinase ZAP-70 (human) that has been phosphorylated on residues at positions equivalent to Thr-315 and Thr-493 of the amino acid sequence represented by UniProtKB:P43403-1. Example: UniProtKB:P43403-1, Tyr-315/Tyr-493, MOD:00048.


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

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


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

A tyrosine-protein kinase ZAP-70 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43403-3.


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

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


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

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


Grade 2 Pulmonary Edema, CTCAE

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


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


DNA-dependent protein kinase catalytic subunit deaminated 6 (human)

A DNA-dependent protein kinase catalytic subunit (human) that has been deaminated on the residue at the position equivalent to Asn-3580 of the amino acid sequence represented by UniProtKB:P78527-1. Example: UniProtKB:P78527-1, Asn-3580, MOD:00684.


proteasome subunit beta type-9 deaminated 2 (human)

A proteasome subunit beta type-9 (human) that has been deaminated on the residue at the position equivalent to Gln-130 of the amino acid sequence represented by UniProtKB:P28065-1. Example: UniProtKB:P28065-1, Gln-130, MOD:00685.


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

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


prostaglandin E2 receptor EP3 subtype isoform hEP3B (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-3.


prostanoid receptor

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


prostaglandin E2 receptor EP3 subtype isoform h12 (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-12.


prostaglandin F2-alpha receptor isoform h7 (human)

A prostaglandin F2-alpha receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43088-7.


prostaglandin D2 receptor isoform h2 (human)

A prostaglandin D2 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13258-2.


prostaglandin F2-alpha receptor

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


prostaglandin D2 receptor isoform h1 (human)

A prostaglandin D2 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13258-1.


prostaglandin F2-alpha receptor isoform h4 (human)

A prostaglandin F2-alpha receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43088-4.


prostaglandin E2 receptor EP3 subtype isoform Alpha (mouse)

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


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

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-9.


prostaglandin E2 receptor EP3 subtype isoform hEP3E2 (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-11.


prostaglandin E2 receptor EP3 subtype isoform hEP3E (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-5.


prostaglandin F2-alpha receptor isoform h3 (human)

A prostaglandin F2-alpha receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43088-3.


prostaglandin E2 receptor EP1 subtype isoform 1 (rat)

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


prostaglandin E2 receptor EP3 subtype isoform Alpha (rat)

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


prostacyclin receptor cysteinylated 2 (human)

A prostacyclin receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-211 of the amino acid sequence represented by UniProtKB:P43119. UniProtKB:P43119, Cys-211, MOD:00765.


prostaglandin E2 receptor EP1 subtype isoform 1 (mouse)

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


prostaglandin D2 receptor

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


prostaglandin E2 receptor EP2 subtype

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


prostaglandin E2 receptor EP3 subtype isoform hEP3A (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-1.


prostaglandin E2 receptor EP3 subtype isoform Beta (mouse)

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


thromboxane A2 receptor

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


thromboxane A2 receptor isoform h2 (human)

A thromboxane A2 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21731-2.


prostaglandin D2 receptor DP2

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


thromboxane A2 receptor isoform 1 (mouse)

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


prostaglandin E2 receptor EP1 subtype

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


prostacyclin receptor

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


prostaglandin F2-alpha receptor isoform h1 (human)

A prostaglandin F2-alpha receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43088-1.


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

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-10.


prostaglandin E2 receptor EP2 subtype methylated 1 (human)

A prostaglandin E2 receptor EP2 subtype (human) that has been methylated on the residue at the position equivalent to Cys-214 of the amino acid sequence represented by UniProtKB:P43116. UniProtKB:P43116, Cys-214, MOD:00660.


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

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-8.


prostaglandin F2-alpha receptor isoform h6 (human)

A prostaglandin F2-alpha receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43088-6.


prostaglandin E2 receptor EP3 subtype isoform hEP3C (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-2.


prostaglandin E2 receptor EP3 subtype

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


prostaglandin E2 receptor EP1 subtype isoform r2 (rat)

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


prostaglandin E2 receptor EP3 subtype isoform hEP3G (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-7.


prostaglandin F2-alpha receptor isoform h5 (human)

A prostaglandin F2-alpha receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43088-5.


prostaglandin E2 receptor EP4 subtype

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


prostaglandin E2 receptor EP3 subtype isoform hEP3D (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-4.


prostacyclin receptor cysteinylated 1 (human)

A prostacyclin receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-118 of the amino acid sequence represented by UniProtKB:P43119. UniProtKB:P43119, Cys-118, MOD:00765.


thromboxane A2 receptor isoform h1 (human)

A thromboxane A2 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21731-3.


prostaglandin E2 receptor EP4 subtype deaminated 1 (human)

A prostaglandin E2 receptor EP4 subtype (human) that has been deaminated on the residue at the position equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P35408. UniProtKB:P35408, Asn-177, MOD:00684.


prostaglandin E2 receptor EP3 subtype isoform hEP3F (human)

A prostaglandin E2 receptor EP3 subtype (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43115-6.


prostaglandin F2-alpha receptor isoform h2 (human)

A prostaglandin F2-alpha receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43088-2.


prostaglandin E2 receptor EP3 subtype isoform Gamma (rat)

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


prostaglandin E2 receptor EP3 subtype isoform Beta (rat)

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


prostaglandin E2 receptor EP3 subtype isoform Gamma (mouse)

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


prostaglandin F2-alpha receptor isoform 1 (mouse)

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


upper aerodigestive tract neoplasm

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


Adenocarcinoma in multiple adenomatous polyps

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


Adenocarcinoma in adenomatous polyposis coli

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


childhood parosteal osteosarcoma

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


peripheral osteosarcoma

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


high grade surface osteosarcoma

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


Childhood Periosteal Osteosarcoma

A periosteal osteosarcoma occurring in childhood.


periosteal osteogenic sarcoma

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


juxtacortical osteosarcoma

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


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

A sodium/myo-inositol cotransporter 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WWX8-1.


Dull Chest Pain

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


Grade 2 Stomach Infection with Unknown Absolute Neutrophil Count, CTCAE


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


Epididymal Melanotic Neuroectodermal Tumor

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


glutamate receptor ionotropic, NMDA 2C, signal peptide removed phosphotyrosine form (human)

A glutamate receptor ionotropic, NMDA 2C (human) that has had the signal peptide removed and that includes at least 1 phosphorylated tyrosine. UniProtKB:Q14957, 20-1233, MOD:00048.


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

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


Grade 4 Cecum Stricture or Stenosis, CTCAE


Grade 5 Cecum Stricture or Stenosis, CTCAE


Grade 3 Cecum Stricture or Stenosis, CTCAE


Grade 1 Cecum Stricture or Stenosis, CTCAE


Grade 2 Cecum Stricture or Stenosis, CTCAE


facial nerve neoplasm

A neoplasm involving a facial nerve.


facial neuralgia

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


geniculate ganglionitis

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


Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.


familial isolated deficiency of vitamin E

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


hypertriglyceridemia 1

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


NIK deficiency

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


transient retinal arterial occlusion

A partial, temporary occlusion of the retinal artery.


Hepatic Arterial Occlusion

An occlusion of the hepatic artery.


Efferent Arteriolar Hyalinosis

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


Vertebral Artery Dissection

A tear within the wall of a vertebral artery.


aortic disorder

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


Dissection of renal artery

A tear within the wall of a renal artery.


Dissection, Thoracoabdominal Aorta

A tear within the wall of the thoracoabdominal aorta.


Dissection, Thoracic Aorta

A tear within the wall of the thoracic aorta.


Juvenile polyarteritis

Polyarteritis occurring in children or adolescents.


Systemic Arterial Hypertensive Disorder

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


coronary atherosclerosis

Atherosclerosis of the coronary vasculature.


Three Vessel Coronary Disease

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


Dissection of iliac artery

A tear within the wall of an iliac artery.


generalized atherosclerosis

Atherosclerosis that is not localized.


arterial occlusion

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


partial arterial retinal occlusion

A partial occlusion of the retinal artery.


Infectious Arteritis

A bacterial or viral infectious process affecting an artery.


Overlap Necrotizing Arteritis

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


Necrotizing Arteritis

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


Double coronary vessel disease

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


cerebral atherosclerosis

Atherosclerosis of the cerebral vasculature.


arteriolosclerosis

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


Monckeberg arteriosclerosis

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


One Vessel Coronary Disease

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


cutaneous polyarteritis nodosa

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


Generalised arteriosclerosis

Arteriosclerosis that is not localized.


Significant Arterial Dissection

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


Hyaline arteriolosclerosis

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


granulomatous angiitis

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


Femoropopliteal Occlusive Disease

An occlusive disease of the femoropopliteal vascular system.


endarteritis

Inflammation of the arterial intima.


Lung Radiation Injury

Radiation injury of the pulmonary system.


middle ear cholesterol granuloma

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


Cholesterol granuloma

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


Bronchospasm, Exercise-Induced

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


Drug-induced cutaneous lupus erythematosus

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


lupus erythematosus tumidus

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


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

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


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

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


clear cell sarcoma

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


Childhood Clear Cell Sarcoma of Soft Parts

A clear cell sarcoma of soft tissue occurring in children.


Metastatic Clear Cell Sarcoma of Soft Tissue

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


Advanced Clear Cell Sarcoma of Soft Tissue

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


Recurrent Clear Cell Sarcoma of Soft Tissue

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


Refractory Clear Cell Sarcoma of Soft Tissue

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


homeodomain-interacting protein kinase 2 isoform h1 (human)

A homeodomain-interacting protein kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H2X6-1.


homeodomain-interacting protein kinase 2

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


homeodomain-interacting protein kinase 2 isoform h2 (human)

A homeodomain-interacting protein kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H2X6-2.


homeodomain-interacting protein kinase 2 isoform h3 (human)

A homeodomain-interacting protein kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H2X6-3.


homeodomain-interacting protein kinase 2 phosphorylated form (human)

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


homeodomain-interacting protein kinase 2 phosphorylated 1 (human)

A homeodomain-interacting protein kinase 2 (human) that has been phosphorylated on the residue at the position equivalent to Ser-827 of the amino acid sequence represented by UniProtKB:Q9H2X6-1. Example: UniProtKB:Q9H2X6-1, Ser-827, MOD:00046.


homeodomain-interacting protein kinase 2 sumoylated 1 (human)

A homeodomain-interacting protein kinase 2 (human) that has been sumoylated on the residue at the position equivalent to Lys-32 of the amino acid sequence represented by UniProtKB:Q9H2X6-1. Example: UniProtKB:Q9H2X6-1, Lys-32, MOD:01149.


homeodomain-interacting protein kinase 2 phosphorylated 2 (human)

A homeodomain-interacting protein kinase 2 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1188 of the amino acid sequence represented by UniProtKB:Q9H2X6-1. Example: UniProtKB:Q9H2X6-1, Ser-1188, MOD:00046.


COG4-congenital disorder of glycosylation

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


primary cutaneous gamma/delta-positive T-cell lymphoma

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


prolonged electroretinal response suppression 2


prolonged electroretinal response suppression 1


succinate-semialdehyde dehydrogenase, mitochondrial isoform h1 (human)

A succinate-semialdehyde dehydrogenase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P51649-1.


fatty acid-binding protein 5 isoform 1 (human)

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


fatty acid-binding protein 5 deaminated 1 (human)

A fatty acid-binding protein 5 (human) that has been deaminated on the residue at the position equivalent to Gln-6 of the amino acid sequence represented by UniProtKB:Q01469. UniProtKB:Q01469, Gln-6, MOD:00685.


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

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


Grade 4 Periorbital Infection, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 1 Carbon Monoxide Diffusing Capacity Decreased, CTCAE

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


Locally Advanced Unresectable Gastric Adenocarcinoma

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


Metastatic Unresectable Carcinoma

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


Metastatic Unresectable Basal Cell Carcinoma

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


Locally Advanced Unresectable Esophageal Adenocarcinoma

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


Locally Advanced Unresectable Colorectal Adenocarcinoma

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


Locally Advanced Unresectable Gastroesophageal Junction Adenocarcinoma

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


Locally Advanced Unresectable Pancreatic Adenocarcinoma

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


Metastatic Unresectable Gastric Adenocarcinoma

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


Locally Advanced Unresectable Triple-Negative Breast Carcinoma

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


Locally Advanced Unresectable Colon Adenocarcinoma

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


Locally Advanced Unresectable Basal Cell Carcinoma

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


Locally Advanced Unresectable Carcinoma

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


Locally Advanced Unresectable Prostate Adenocarcinoma

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


Locally Advanced Unresectable Breast Carcinoma

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


Unresectable Castration-Resistant Prostate Carcinoma

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


Locally Advanced Unresectable Renal Cell Carcinoma

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


Locally Advanced Unresectable HER2-Negative Breast Carcinoma

HER2-negative breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable Cervical Adenocarcinoma

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


Locally Advanced Unresectable Lung Non-Small Cell Squamous Carcinoma

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


Locally Advanced Unresectable HER2-Positive Breast Carcinoma

HER2-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable Fallopian Tube Carcinoma

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


Locally Advanced Unresectable Hormone Receptor-Positive Breast Carcinoma

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


Locally Advanced Unresectable Prostate Carcinoma

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


Locally Advanced Unresectable Cervical Carcinoma

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


Stage IA Uterine Sarcoma AJCC v7

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


tonsil neoplasm

A neoplasm (disease) that involves the tonsil.


benign neoplasm of tonsil

A benign neoplasm that involves the tonsil.


tonsillar lipoma

A benign adipose tissue neoplasm of the tonsils.


Grade 5 Gastrointestinal Fistula, CTCAE

Death


Eccrine angiomatous hamartoma

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


plantar fibromatosis

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


hereditary painful callosities

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


Grade 2 Palpitations, CTCAE

Intervention indicated


X-linked sideroblastic anemia with ataxia

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


Grade 4 Colonic Perforation, CTCAE

Life-threatening consequences; urgent intervention indicated


Undifferentiated Juvenile Idiopathic Arthritis

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


calcium/calmodulin-dependent protein kinase type II subunit delta, initiator methionine removed form (human)

A calcium/calmodulin-dependent protein kinase type II subunit delta (human) that has had the initiator methionine removed. Example: UniProtKB:Q13557-1, 2-499.


magnetite nanoparticle

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


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

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


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

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


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

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


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

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


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

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


Recurrent Metastatic Merkel Cell Carcinoma

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


Recurrent Metastatic Malignant Neoplasm

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


Recurrent Metastatic Melanoma

The reemergence of metastatic melanoma after a period of remission.


Recurrent Carcinoma of Unknown Primary

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


Recurrent Metastatic Digestive System Carcinoma

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


Recurrent Pseudomyxoma Peritonei

The reemergence of pseudomyxoma peritonei after a period of remission.


Recurrent Metastatic Malignant Neoplasm in the Leptomeninges

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


Recurrent Metastatic Gastric Carcinoma

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


Recurrent Metastatic Skin Squamous Cell Carcinoma

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


Grade 2 Sinus Intra-Operative Injury, CTCAE


nuclear receptor ROR-gamma isoform 1 (human)

A nuclear receptor ROR-gamma (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P51449-1.


nuclear receptor ROR-gamma phosphorylated 1 (human)

A nuclear receptor ROR-gamma (human) that has been phosphorylated on the residue at the position equivalent to Ser-113 of the amino acid sequence represented by UniProtKB:P51449-1. Example: UniProtKB:P51449-1, Ser-113, MOD:00046.


nuclear receptor ROR-gamma isoform h2 (human)

A nuclear receptor ROR-gamma (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P51449-2.


Mitochondrially Inherited Nonsyndromic Sensorineural Deafness

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


Deafness due to Connexin 26 Gene Anomaly

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


Complete neonatal hearing loss

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


Neonatal hearing loss

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


autosomal recessive nonsyndromic hearing loss 1A

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


central hearing loss

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


autosomal recessive nonsyndromic hearing loss 49

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


autosomal dominant nonsyndromic hearing loss 36

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


Hearing Loss, Functional

Hearing loss in the absence of auditory system pathology.


autosomal recessive nonsyndromic hearing loss 36

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


autosomal recessive nonsyndromic hearing loss 28

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


Partial neonatal hearing loss

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


autosomal recessive nonsyndromic hearing loss 39

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


noise induced hearing loss

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


autosomal dominant nonsyndromic hearing loss 41

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


hearing loss, X-linked 4

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


X-linked hereditary sensory and autonomic neuropathy with hearing loss

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


Sensory hearing loss

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


severe intellectual disability-progressive spastic diplegia syndrome

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


hand dermatosis

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


pyromania

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


arthus reaction

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


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

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


Grade 1 Intraoperative Venous Injury, CTCAE

Primary repair of injured organ/structure indicated


Intraoperative Venous Injury, CTCAE

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


Grade 2 Intraoperative Venous Injury, CTCAE

Partial resection of injured organ/structure indicated


Grade 4 Intraoperative Venous Injury, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 3 Intraoperative Venous Injury, CTCAE

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


Grade 5 Intraoperative Venous Injury, CTCAE

Death


Grade 1 Genitourinary Stoma Prolapse, CTCAE


Testicular Mixed Choriocarcinoma and Teratoma

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


eyelid degenerative disorder

A neurodegenerative disease that involves the eyelid.


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

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


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

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


hyperphosphatasia with intellectual disability syndrome 2

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


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

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


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

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


External Prosthetic Device Pain

Pain that is associated with an external artificial replacement device.


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


benign neoplasm of endometrium

A benign neoplasm that involves the endometrium.


Malignant nasopharyngeal neoplasm recurrent

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


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

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


Lymphoma of kidney

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


Peritoneal Histiocytic Nodule

A nodule in the peritoneum composed of benign histiocytes.


cholane derivative

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


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


interleukin-1 alpha isoform 1 myristoylated 2 (human)

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


interleukin-1 alpha isoform 1 myristoylated 1 (human)

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


interleukin-1 alpha isoform 1 (human)

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


interleukin-1 alpha isoform 1 cleaved 1 (human)

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


follicular dendritic cell sarcoma of mediastinum

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


Acute Myeloid Leukemia with SF3B1 Mutation

An acute myeloid leukemia associated with SF3B1 gene mutation.


streptococcus pneumoniae discitis

Discitis caused by infection with Streptococcus pneumoniae.


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

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


atrial septal defect 9

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


Ewing sarcoma of bone

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


acute hypotension

Acute form of hypotension (disease).


Pancreatic Mucinous-Cystic Neoplasm, High Grade

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


Parenteral Nutrition - Associated Cholestasis

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


Recurrent Intrahepatic Cholestasis

Reappearance of cholestasis caused by obstruction within the liver.


Genital rhabdomyoma

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


Benign Skeletal Muscle Neoplasm

A benign mesenchymal neoplasm arising from skeletal muscle tissue.


Extracardiac Rhabdomyoma

A benign mesenchymal neoplasm that shows mature skeletal muscle differentiation.


Central Nervous System Rhabdomyoma

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


Intermediate Rhabdomyoma

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


Vulvar Rhabdomyoma

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


Fetal rhabdomyoma

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


Paratesticular Rhabdomyoma

A rhabdomyoma that arises from the paratesticular region.


Vaginal Rhabdomyoma

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


Adult Extracardiac Rhabdomyoma

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


Classic Rhabdomyoma

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


Mediastinal Rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the mediastinum.


Grade 4 Intraoperative Musculoskeletal Injury, CTCAE

Life-threatening consequences; urgent intervention indicated


atrial septal defect 7

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


mesenteric lymphadenitis

Inflammation of the mesenteric lymph nodes.


amyloidosis, primary localized cutaneous, 1

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


familial primary localized cutaneous amyloidosis


amyloidosis, primary localized cutaneous, 3


amyloidosis, primary localized cutaneous, 2


trihydroxyflavanone

A hydroxyflavanone carrying three hydroxy substituents.


Stage IB Fallopian Tube Cancer AJCC v6 and v7

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


Grade 1 Subcutaneous Emphysema, CTCAE

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


Subcutaneous Emphysema, CTCAE

A disorder characterized by air in the subcutaneous tissue.


Grade 2 Subcutaneous Emphysema, CTCAE

Moderate; minimal, local or noninvasive intervention indicated


Grade 3 Subcutaneous Emphysema, CTCAE

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


Expanding aneurysm

Expansion of aneurysm.


Grade 3 Vaginal Pain, CTCAE

Severe pain; limiting self care ADL


Vaginal Pain, CTCAE 5.0

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


Grade 2 Vaginal Pain, CTCAE

Moderate pain; limiting instrumental ADL


Grade 1 Vaginal Pain, CTCAE

Mild pain


Grade 1 Abdominal Distension or Bloating, CTCAE


lutropin-choriogonadotropic hormone receptor isoform Long (human)

A lutropin-choriogonadotropic hormone receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22888-1.


follicular atrophoderma-basal cell carcinoma


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

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


Metastatic Malignant Abdominal Neoplasm

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


Advanced Malignant Abdominal Neoplasm

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


sick sinus syndrome 2, autosomal dominant

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


20q11.2 microduplication syndrome

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


proliferating cell nuclear antigen sumoylated 1 (human)

A proliferating cell nuclear antigen (human) that has been sumoylated on the residues at the positions equivalent to Lys-164 and Lys-254 of the amino acid sequence represented by UniProtKB:P12004 and that includes at least 1 additional sumoylated lysine. UniProtKB:P12004, Lys-164/Lys-254, MOD:01149|MOD:01149.


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

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


potassium-transporting ATPase alpha chain 1 deaminated 1 (human)

A potassium-transporting ATPase alpha chain 1 (human) that has been deaminated on the residue at the position equivalent to Gln-775 of the amino acid sequence represented by UniProtKB:P20648. UniProtKB:P20648, Gln-775, MOD:00685.


brachydactyly type E2

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


immunodeficiency 32B

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


melanocortin receptor 4 methylated 1 (human)

A melanocortin receptor 4 (human) that has been methylated on the residue at the position equivalent to Cys-293 of the amino acid sequence represented by UniProtKB:P32245. UniProtKB:P32245, Cys-293, MOD:00660.


organosulfonic ester

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


methanesulfonate ester

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


arenesulfonate ester

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


congenital narrowing of cervical spinal canal

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


atrial natriuretic peptide receptor 2 isoform Long (human)

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


Vas deferens perforation

A rupture in the wall of the vas deferens.


phosphoserine aminotransferase isoform 1 (human)

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


Retinoblastoma, diffuse

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


5-hydroxytryptamine receptor 3B isoform h2 (human)

A 5-hydroxytryptamine receptor 3B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95264-2.


5-hydroxytryptamine receptor 3B

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


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

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


5-hydroxytryptamine receptor 3B isoform h1 (human)

A 5-hydroxytryptamine receptor 3B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95264-1.


mesocestoidiasis

An disease or disorder caused by infection with Mesocestoides.


Refractory Vaginal Squamous Cell Carcinoma

Vaginal squamous cell carcinoma that is resistant to treatment.


dual specificity protein kinase TTK isoform h1 (human)

A dual specificity protein kinase TTK (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P33981-1.


dual specificity protein kinase TTK

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


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

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


TTK activation loop phosphorylated form (human)

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


dual specificity protein kinase TTK methylated 1 (human)

A dual specificity protein kinase TTK (human) that has been methylated on the residue at the position equivalent to Cys-517 of the amino acid sequence represented by UniProtKB:P33981-1. Example: UniProtKB:P33981-1, Cys-517, MOD:00660.


dual specificity protein kinase TTK isoform h2 (human)

A dual specificity protein kinase TTK (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P33981-2.


dual specificity protein kinase TTK phosphorylated 1 (human)

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


guanylate cyclase soluble subunit beta-1 methylated 1 (human)

A guanylate cyclase soluble subunit beta-1 (human) that has been methylated on the residue at the position equivalent to Cys-497 of the amino acid sequence represented by UniProtKB:Q02153-1. Example: UniProtKB:Q02153-1, Cys-497, MOD:00660.


fibrous meningioma

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


Larsen-like syndrome, B3GAT3 type

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


primary ciliary dyskinesia 13

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


lysine-specific histone demethylase 1A methylated 1 (human)

A lysine-specific histone demethylase 1A (human) that has been methylated on the residue at the position equivalent to Cys-360 of the amino acid sequence represented by UniProtKB:O60341-1. Example: UniProtKB:O60341-1, Cys-360, MOD:00660.


2:1 Atrioventricular Block by ECG Finding

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


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

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


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

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15120-1.


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

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


Myeloblasts 10-19 Percent of Peripheral Blood White Cells

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


Myeloblasts 5-19 Percent of Peripheral Blood White Cells

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


Factor V Inactivation

Presence of inactivating antibodies to factor V in the blood.


acquired factor V deficiency

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


Gallbladder Adenoma, Intestinal-Type

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


neoplastic polyp

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


Cervical Microglandular Polyp

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


tubular adenoma of stomach

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


Precancerous Polyp

A polyp with severe dysplastic features.


villous adenoma of stomach

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


adenomatous polyp of stomach

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


Ampulla of Vater Tubular Adenoma

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


polyp of middle ear

A benign polypoid growth in the middle ear.


Ampulla of Vater Villous Adenoma

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


Adenomatous Polyps

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


Endocervical polyp

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


Fallopian Tube Endometrioid Polyp

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


Colorectal Adenomatous Polyp

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


Adenoma of ampulla of Vater

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


Adenomatous polyp of rectum

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


polyposis

A condition characterized by the presence of numerous polyps.


Intestinal-type adenoma

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


tubulovillous adenoma of stomach

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


polyp of external auditory canal

A polyp that involves the external acoustic meatus.