name: Pathologic Stage 0 Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8

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

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


name: Pathologic Stage I Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage II Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage III Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage IC Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage IVA Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage IIB Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage IV Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Pathologic Stage IB Gastroesophageal Junction Adenocarcinoma AJCC v8

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


allocholic acid

An allo-bile acid that is 5alpha-cholan-24-oic acid bearing three alpha-hydroxy substituents at position 3, 7 and 12.


name: Muellerian-inhibiting factor isoform 1 cleaved and N-glycosylated 2 (human)

description: A Muellerian-inhibiting factor isoform 1 cleaved and glycosylated 2 in human, in which the cleaved parts remain joined by disulfide bonds. The position(s) of glycosylation sites have not been experimentally determined. UniProtKB:P03971-1, 26-450, 451-560, MOD:00160.


name: Patchy sclerosis of the proximal phalanx of the 3rd toe

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


Sunken fontanelle

description: Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus.


name: sodium/nucleoside cotransporter 1 isoform h2 (human)

description: A sodium/nucleoside cotransporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00337-2.


name: lactotransferrin, signal peptide removed form (human)

description: A lactotransferrin (human) that has had the signal peptide removed. UniProtKB:P02788, 20-710.


chronic sphenoidal sinusitis

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


name: 1alpha,25-dihydroxy-2beta-(2-hydroxyethoxy)vitamin D3 / 1alpha,25-dihydroxy-2beta-(2-hydroxyethoxy)cholecalciferol


name: serine/threonine-protein kinase Kist methylated 2 (human)

description: A serine/threonine-protein kinase Kist (human) that has been methylated on the residue at the position equivalent to Cys-207 of the amino acid sequence represented by UniProtKB:Q8TAS1-1. Example: UniProtKB:Q8TAS1-1, Cys-207, MOD:00660.


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


name: ATP-dependent RNA helicase DHX15 isoform 1 (human)

description: An ATP-dependent RNA helicase DHX15 isoform 1 that is encoded in the genome of human.


name: short transient receptor potential channel 6 isoform h1 (human)

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


name: short transient receptor potential channel 6

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


name: short transient receptor potential channel 6 isoform h3 (human)

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


name: short transient receptor potential channel 6 phosphorylated 1 (human)

description: A short transient receptor potential channel 6 (human) that has been phosphorylated on the residue at the position equivalent to Thr-402 of the amino acid sequence represented by UniProtKB:Q9Y210-1. Example: UniProtKB:Q9Y210-1, Thr-402, MOD:00047.


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

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


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

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


name: short transient receptor potential channel 6 isoform h2 (human)

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


Benign Nasolacrimal Duct Neoplasm

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


name: Hodgkin lymphoma, nodular sclerosis, cellular phase

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


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

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


name: ATP-binding cassette sub-family C member 12 isoform h1 (human)

description: An ATP-binding cassette sub-family C member 12 (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:Q96J65-1.


An imidazolidine-2,4-dione substituted by a guanidino group at position 5.


name: Unresectable Cervical Adenosquamous Carcinoma

description: Cervical adenosquamous carcinoma that is not amenable to surgical resection.


Scapular winging

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


pyrin domain-containing protein 1

A protein that is a translation product of the human PYDC1 gene or a 1:1 ortholog thereof.


name: splicing factor 3B subunit 3 isoform h3 (human)

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


Vesicovaginal fistula

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


Urogenital fistula

description: The presence of a fistula affecting the genitourinary system.


Rectoperineal fistula

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


Urethrovaginal fistula

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


H-type rectovestibular fistula

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


Perineal fistula

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


Anoperineal fistula

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


Vaginal fistula

description: The presence of a fistula of the vagina.


Urachus fistula

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


Rectourethral fistula

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


Rectovaginal fistula

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


Rectoureteral fistula

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


Rectovestibular fistula

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


Rectal fistula

description: The presence of a fistula affecting the rectum.


Bladder fistula

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


Colovesical fistula

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


Urethral fistula

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


Rectovesical fistula

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


A sialodiosylceramide that consists of an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc moiety attached via a glycosidic bond at position 1 of N-acylicosasphingosine.


name: DBIRD complex subunit ZNF326 isoform h3 (human)

description: A DBIRD complex subunit ZNF326 (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:Q5BKZ1-3.


diacylglycerol 35:2

A diglyceride in which the two acyl groups contain a total of 35 carbons and 2 double bonds.


name: protein phosphatase 1 regulatory subunit 3C isoform 1 (human)

description: A protein phosphatase 1 regulatory subunit 3C isoform 1 that is encoded in the genome of human.


name: electrogenic sodium bicarbonate cotransporter 1 isoform 1 (human)

description: An electrogenic sodium bicarbonate cotransporter 1 isoform 1 that is encoded in the genome of human.


Recurrent Unspecified Lung Carcinoma

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


Large cell lung cancer recurrent

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


name: Recurrent Lung Non-Small Cell Squamous Carcinoma

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


Recurrent Bronchogenic Carcinoma

description: The reemergence of bronchogenic carcinoma after a period of remission.


name: Locally Recurrent Lung Non-Small Cell Carcinoma

description: The reemergence of lung non-small cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.


Non-small cell lung cancer recurrent

description: The re-emergence of non-small cell lung carcinoma after a period of remission.


name: Recurrent Lung Non-Squamous Non-Small Cell Carcinoma

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


name: Adenosquamous cell lung cancer recurrent

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


Lung adenocarcinoma recurrent

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


Small cell lung cancer recurrent

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


Lung squamous cell carcinoma recurrent

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


name: Recurrent Extensive Stage Lung Small Cell Carcinoma

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


An allotrope of carbon with molecular formula C18 existing as a ring of eighteen carbon atoms, connected by alternating triple and single bonds.


name: inhibin alpha chain isoform 1 cleaved 1 (human)

description: An inhibin alpha chain isoform 1 cleaved 1 in human. UniProtKB:P05111-1, 233-366.


name: inhibin alpha chain isoform 1 cleaved and N-glycosylated 2 (human)

description: An inhibin alpha chain isoform 1 cleaved and N-glycosylated 2 in human. UniProtKB:P05111-1, 233-366, Asn-268/Asn-302, MOD:00160.


CDP-N-methylethanolamine

A nucleotide-(amino alcohol) that is the N-methyl derivative of CDP-ethanolamine.


fibrocystin isoform h2 (human)

A fibrocystin (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:P08F94-2.


pituitary gland basophilic carcinoma

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


(-)-cubebin

A lignan that consists of tetrahydrofuran-2-ol substituted by two 1,3-benzodioxol-5-ylmethyl groups at positions 3 and 4 respectively (the 2S,3R,4R stereoisomer). It is isolated from the leaves of Piper nigrum and exhibits analgesic, anti-inflammatory, antimicrobial and trypanocidal activities.


name: platelet-derived growth factor C isoform 1 cleaved 1 (human)

description: A platelet-derived growth factor C isoform 1 cleaved 1 in human. UniProtKB:Q9NRA1-1, 226-345.


name: platelet-derived growth factor C isoform 1, signal peptide removed form (human)

description: A platelet-derived growth factor C isoform 1 (human) that has had the signal peptide removed. UniProtKB:Q9NRA1-1, 23-345.


name: platelet-derived growth factor C isoform 1 (human)

description: A platelet-derived growth factor C isoform 1 that is encoded in the genome of human.


name: platelet-derived growth factor C isoform 1 mono-SUMO1-ylated form (human)

description: A platelet-derived growth factor C isoform 1 mono-SUMO1-ylated form in human. UniProtKB:Q9NRA1-1, MOD:01149~PR:000050074.


HYEMALOSIDE C

A beta-D-glucoside compound having a a hexahydroxydiphenoyl (HHDP) group bridging over positions 4 and 6, galloyl groups at positions 2 and 3 and a 4-hydroxyphenyl substituent at the 1-position. Isolated from Eugenia hyemalis, it exhibits inhibitory activity against HIV-1.


name: protein tweety homolog 2 deaminated 1 (human)

description: A protein tweety homolog 2 (human) that has been deaminated on the residue at the position equivalent to Gln-184 of the amino acid sequence represented by UniProtKB:Q9BSA4-1. Example: UniProtKB:Q9BSA4-1, Gln-184, MOD:00685.


name: protein tweety homolog 2 isoform h2 (human)

description: A protein tweety homolog 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:Q9BSA4-2.


name: protein tweety homolog 2 isoform h1 (human)

description: A protein tweety homolog 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:Q9BSA4-1.


A steroidal acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of 9alpha-hydroxy-3-oxo-23,24-bisnorchola-4-en-22-oic acid.


Stage IA Vaginal Cancer AJCC v8

description: Stage IA includes: T1a, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage I Vaginal Cancer AJCC v8

description: Stage I includes: IA: T1a, N0, M0; IB: T1b, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IB Vaginal Cancer AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: vulvar proximal-type epithelioid sarcoma

description: An epithelioid sarcoma of the proximal type involving the vulva.


name: polyadenylate-binding protein 1 isoform h2 (human)

description: A polyadenylate-binding protein 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:P11940-2.


name: DENN domain-containing protein 3 methylated 2 (human)

description: A DENN domain-containing protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-1125 of the amino acid sequence represented by UniProtKB:A2RUS2-1. Example: UniProtKB:A2RUS2-1, Cys-1125, MOD:00660.


name: katanin p60 ATPase-containing subunit A-like 1

description: A protein that is a translation product of the human KATNAL1 gene or a 1:1 ortholog thereof.


Abnormality of the thenar eminence

description: An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.


Small thenar eminence

description: Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.


name: E3 ubiquitin-protein ligase HERC2 cysteinylated 3 (human)

description: An E3 ubiquitin-protein ligase HERC2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-558 of the amino acid sequence represented by UniProtKB:O95714. UniProtKB:O95714, Cys-558, MOD:00765.


name: neuronopathy, distal hereditary motor, autosomal recessive 10


name: Decreased renal tubular phosphate excretion


name: lutropin subunit beta N-glycosylated 10 (human)

description: A lutropin subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-50 of the amino acid sequence represented by UniProtKB:P01229-1, in which the glycan structure is represented by GlyTouCan:G49743VF. Example: UniProtKB:P01229-1, Asn-50, MOD:00160~GNO:G49743VF.


name: DNA polymerase beta unacetylated 1 (human)

description: A DNA polymerase beta (human) that lacks acetylation on the residue equivalent to Lys-72 of the amino acid sequence represented by UniProtKB:P06746. UniProtKB:P06746, Lys-72, PR:000026291.


name: Recurrent Castration-Sensitive Prostate Carcinoma

description: The reemergence of hormone-sensitive prostate carcinoma in an anatomic site other than the prostate gland, after a period of remission.


catenin beta-1 deaminated 6 (human)

A catenin beta-1 (human) that has been deaminated on the residue at the position equivalent to Asn-121 of the amino acid sequence represented by UniProtKB:P35222. UniProtKB:P35222, Asn-121, MOD:00684.


name: histone-lysine N-methyltransferase SETDB1 methylated 1 (human)

description: A histone-lysine N-methyltransferase SETDB1 (human) that has been methylated on the residue at the position equivalent to Cys-830 of the amino acid sequence represented by UniProtKB:Q15047-1. Example: UniProtKB:Q15047-1, Cys-830, MOD:00660.


name: protein bicaudal D homolog 2, initiator methionine removed form (human)

description: A protein bicaudal D homolog 2 (human) that has had the initiator methionine removed. UniProtKB:Q8TD16, 2-824.


Refractory Testicular Lymphoma

description: Testicular lymphoma that is resistant to treatment.


Recurrent Testicular Lymphoma

description: The reemergence of testicular lymphoma after a period of remission.


Testicular Follicular Lymphoma

description: A distinctive variant of follicular lymphoma arising from the testis. It has been reported with higher frequency in children, but is also seen rarely in adults. It differs biologically from nodal follicular lymphoma because it lacks evidence of the BCL2 translocation. It is usually of high cytological grade, usually grade 3A, but has a good prognosis, even without additional therapy beyond surgical excision. (WHO 2017)


name: Primary Diffuse Large B-Cell Lymphoma of the Testis

description: A diffuse large B-cell lymphoma that arises from the testis. It predominantly affects older men. Patients usually present with a unilateral hard painless mass. Bilateral masses have been described in a minority of patients.


name: Testicular Nasal Type Extranodal NK/T-Cell Lymphoma

description: A nasal type extranodal NK/T-cell lymphoma affecting the testis. Patients usually present with unilateral testicular enlargement. Bilateral involvement is rare. The prognosis is poor.


name: Rho GTPase-activating protein 5 isoform h3 (human)

description: A Rho GTPase-activating protein 5 (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:Q13017-3.


name: chemokine-like factor isoform h2 (human)

description: A chemokine-like factor (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:Q9UBR5-1.


name: regulator of G-protein signaling 2 isoform 1 (human)

description: A regulator of G-protein signaling 2 isoform 1 that is encoded in the genome of human.


regulator of G-protein signaling 2

A protein that is a translation product of the human RGS2 gene or a 1:1 ortholog thereof.


name: regulator of G-protein signaling 2 isoform h2 (human)

description: A regulator of G-protein signaling 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:P41220-2.


name: regulator of G-protein signaling 2 methylated 1 (human)

description: A regulator of G-protein signaling 2 (human) that has been methylated on the residue at the position equivalent to Cys-169 of the amino acid sequence represented by UniProtKB:P41220-1. Example: UniProtKB:P41220-1, Cys-169, MOD:00660.


name: regulator of G-protein signaling 2 isoform h3 (human)

description: A regulator of G-protein signaling 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:P41220-3.


name: regulator of G-protein signaling 2 isoform h4 (human)

description: A regulator of G-protein signaling 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:P41220-4.


The methyl ester of 5-(hydroxymethyl)pyrrolidine-2-carboxylic acid.


acid ceramidase isoform h2 (human)

An acid ceramidase (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:Q13510-2.


name: methylmalonic aciduria type A protein, mitochondrial sequence variant Y207C, transit peptide removed form (human)

description: A methylmalonic aciduria type A protein, mitochondrial (human) that has a Cys residue at the position equivalent to Tyr-207 of the amino acid sequence represented by UniProtKB:Q8IVH4 and that has had the transit peptide removed. UniProtKB:Q8IVH4, 66-418, Tyr-207, CHEBI:29950.


Malignant Pancreatic Somatostatinoma

description: A neuroendocrine tumor that arises from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. It displays vascular invasion and metastasizes to other anatomic sites.


name: Pancreatic Somatostatin-Producing Neuroendocrine Tumor

description: A usually malignant, somatostatin producing neuroendocrine tumor, arising from the delta cells of the pancreas.  It may or may not be associated with inappropriate secretion of somatostatin and an associated clinical syndrome.


pancreatic somatostatinoma

description: A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.


name: major salivary gland carcinoma ex pleomorphic adenoma

description: A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


Recurrent Submandibular Gland Carcinoma

description: The reemergence of submandibular gland carcinoma after a period of remission.


name: Recurrent Parotid Gland Adenoid Cystic Carcinoma

description: The reemergence of parotid gland adenoid cystic carcinoma after a period of remission.


name: Stage IV Major Salivary Gland Carcinoma without Metastasis

description: Stage IV carcinoma of the major salivary glands without regional lymph nodes or distant metastases.


name: squamous cell carcinoma of submandibular gland

description: An invasive squamous cell carcinoma that arises from the submandibular gland.  It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.


name: Stage IVC Major Salivary Gland Cancer AJCC v8

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


name: Recurrent Submandibular Gland Undifferentiated Carcinoma

description: The reemergence of submandibular gland undifferentiated carcinoma after a period of remission.


name: mucoepidermoid carcinoma of submandibular gland

description: A mucoepidermoid carcinoma that involves the submandibular gland.


name: Recurrent Submandibular Gland Acinic Cell Carcinoma

description: The reemergence of submandibular gland acinic cell carcinoma after a period of remission.


name: Stage III Major Salivary Gland Cancer AJCC v7

description: Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IV Major Salivary Gland Cancer AJCC v8

description: Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Major Salivary Gland Adenocarcinoma

description: An adenocarcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.


name: Submandibular Gland Acinic Cell Carcinoma

description: An adenocarcinoma with serous acinar cell differentiation that arises from the submandibular gland.


name: Submandibular Gland Undifferentiated Carcinoma

description: A carcinoma that arises from the submandibular gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.


adenocarcinoma of sublingual gland

description: An adenocarcinoma that arises from the sublingual gland.


name: Major Salivary Gland Cancer by AJCC v8 Stage

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


name: Stage I Major Salivary Gland Cancer AJCC v7

description: Stage I includes: T1, N0, M0.  T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IVA Major Salivary Gland Cancer AJCC v7

description: Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension.  N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.  M0: No distant metastasis. (AJCC 7th ed.)


name: Recurrent Submandibular Gland Mucoepidermoid Carcinoma

description: The reemergence of submandibular gland mucoepidermoid carcinoma after a period of remission.


name: Recurrent Parotid Gland Carcinoma ex Pleomorphic Adenoma

description: The reemergence of parotid gland carcinoma ex pleomorphic adenoma after a period of remission.


name: Stage II Major Salivary Gland Cancer AJCC v8

description: Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Recurrent Parotid Gland Carcinoma

description: The reemergence of parotid gland carcinoma after a period of remission.


name: Stage IVB Major Salivary Gland Cancer AJCC v8

description: Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)


name: Recurrent Parotid Gland Squamous Cell Carcinoma

description: The reemergence of parotid gland squamous cell carcinoma after a period of remission.


name: Recurrent Submandibular Gland Squamous Cell Carcinoma

description: The reemergence of submandibular gland squamous cell carcinoma after a period of remission.


name: Stage IVA Major Salivary Gland Cancer AJCC v8

description: Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)


sublingual gland carcinoma

description: A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.


name: Stage 0 Major Salivary Gland Cancer AJCC v8

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


name: Major Salivary Gland Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the parotid or submandibular gland.


name: Recurrent Parotid Gland Mucoepidermoid Carcinoma

description: The reemergence of parotid gland mucoepidermoid carcinoma after a period of remission.


name: major salivary gland mucoepidermoid carcinoma

description: A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.


name: Recurrent Parotid Gland Acinic Cell Carcinoma

description: The reemergence of parotid gland acinic cell carcinoma after a period of remission.


name: major salivary gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


name: Major Salivary Gland Cancer by AJCC v7 Stage

description: A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 7th edition.


name: Submandibular Gland Carcinoma ex Pleomorphic Adenoma

description: A carcinoma that arises from a pleomorphic adenoma in the submandibular gland.  Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months.  Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis.  In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


name: Major Salivary Gland Acinic Cell Carcinoma

description: An adenocarcinoma with serous acinar cell differentiation that arises from the major salivary glands.  The vast majority of cases occur in the parotid gland.  Patients usually present with a slow growing mass in the parotid area.


parotid gland acinic cell carcinoma

description: An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.


name: parotid gland carcinoma ex pleomorphic adenoma

description: A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


name: Stage IV Major Salivary Gland Cancer AJCC v7

description: Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension.  N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.  N3: Metastasis in a lymph node, more than 6 cm in greatest dimension.  M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)


name: Recurrent Submandibular Gland Carcinoma ex Pleomorphic Adenoma

description: The reemergence of submandibular gland carcinoma ex pleomorphic adenoma after a period of remission.


name: Stage I Major Salivary Gland Cancer AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Parotid Gland Undifferentiated Carcinoma

description: A carcinoma that arises from the parotid gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.


parotid gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


name: Recurrent Submandibular Gland Adenoid Cystic Carcinoma

description: The reemergence of submandibular gland adenoid cystic carcinoma after a period of remission.


name: Stage III Major Salivary Gland Cancer AJCC v8

description: Stage III includes: (T3, N0, M0); (T0, N1, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVC Major Salivary Gland Cancer AJCC v7

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


name: Stage II Major Salivary Gland Cancer AJCC v7

description: Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Recurrent Parotid Gland Undifferentiated Carcinoma

description: The reemergence of parotid gland undifferentiated carcinoma after a period of remission.


name: submandibular gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


name: Stage IVB Major Salivary Gland Cancer AJCC v7

description: Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0).  T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension.  M0: No distant metastasis. (AJCC 7th ed.)


sphingosine kinase 2 isoform h2 (human)

A sphingosine 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:Q9NRA0-2.


sphingosine kinase 2

A protein that is a translation product of the human SPHK2 gene or a 1:1 ortholog thereof.


sphingosine kinase 2 isoform h5 (human)

A sphingosine 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:Q9NRA0-5.


sphingosine kinase 2 isoform h3 (human)

A sphingosine 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:Q9NRA0-3.


sphingosine kinase 2 isoform h1 (human)

A sphingosine 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:Q9NRA0-1.


name: sphingosine kinase 2 deaminated 1 (human)

description: A sphingosine kinase 2 (human) that has been deaminated on the residue at the position equivalent to Gln-599 of the amino acid sequence represented by UniProtKB:Q9NRA0-1. Example: UniProtKB:Q9NRA0-1, Gln-599, MOD:00685.


name: sphingosine kinase 2 cysteinylated 1 (human)

description: A sphingosine kinase 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-304 of the amino acid sequence represented by UniProtKB:Q9NRA0-1. Example: UniProtKB:Q9NRA0-1, Cys-304, MOD:00765.


sphingosine kinase 2 isoform h4 (human)

A sphingosine 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:Q9NRA0-4.


autosomal recessive osteopetrosis 4

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.


name: AIDS-Related Plasmablastic Lymphoma of the Oral Mucosa

description: A plasmablastic oral mucosa lymphoma in a patient with acquired immunodeficiency syndrome.


Plasmablastic Lymphoma of Mucosa Site

description: A plasmablastic lymphoma that arises from a mucosal site.


name: AIDS-Related Plasmablastic Lymphoma of Mucosa Site

description: A plasmablastic mucosal site lymphoma in a patient with acquired immunodeficiency syndrome.


name: Plasmablastic Lymphoma of the Oral Mucosa

description: A plasmablastic lymphoma that arises from the oral mucosa. It is usually associated with HIV infection.


name: UTP--glucose-1-phosphate uridylyltransferase isoform 1 (human)

description: A UTP--glucose-1-phosphate uridylyltransferase isoform 1 that is encoded in the genome of human.


A protein that is a translation product of the human UGP2 gene or a 1:1 ortholog thereof.


name: UTP--glucose-1-phosphate uridylyltransferase isoform h2 (human)

description: A UTP--glucose-1-phosphate uridylyltransferase (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:Q16851-2.


name: cytoplasmic dynein 1 intermediate chain 1 isoform h5 (human)

description: A cytoplasmic dynein 1 intermediate chain 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:O14576-5.


Early Stage Esophageal Carcinoma

description: A stage term referring to esophageal carcinoma that is confined to the esophageal mucosa or submucosa.


name: C-1-tetrahydrofolate synthase, cytoplasmic deaminated 2 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been deaminated on the residue at the position equivalent to Gln-807 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Gln-807, MOD:00685.


name: C-1-tetrahydrofolate synthase, cytoplasmic deaminated 1 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been deaminated on the residue at the position equivalent to Asn-932 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Asn-932, MOD:00684.


name: C-1-tetrahydrofolate synthase, cytoplasmic methylated 2 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been methylated on the residue at the position equivalent to Cys-691 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Cys-691, MOD:00660.


name: C-1-tetrahydrofolate synthase, cytoplasmic isoform 1 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic isoform 1 that is encoded in the genome of human.


name: C-1-tetrahydrofolate synthase, cytoplasmic methylated 1 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been methylated on the residue at the position equivalent to Cys-918 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Cys-918, MOD:00660.


name: C-1-tetrahydrofolate synthase, cytoplasmic deaminated 3 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been deaminated on the residue at the position equivalent to Gln-285 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Gln-285, MOD:00685.


name: C-1-tetrahydrofolate synthase, cytoplasmic cysteinylated 1 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been cysteinylated on the residue at the position equivalent to Cys-691 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Cys-691, MOD:00765.


name: C-1-tetrahydrofolate synthase, cytoplasmic, initiator methionine removed form (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has had the initiator methionine removed. UniProtKB:P11586, 2-935.


name: ankyrin repeat and SOCS box protein 4 isoform 1 (human)

description: An ankyrin repeat and SOCS box protein 4 isoform 1 that is encoded in the genome of human.


name: kinesin-like protein KIF1C cysteinylated 1 (human)

description: A kinesin-like protein KIF1C (human) that has been cysteinylated on the residue at the position equivalent to Cys-544 of the amino acid sequence represented by UniProtKB:O43896. UniProtKB:O43896, Cys-544, MOD:00765.


name: EARP and GARP complex-interacting protein 1 cysteinylated 1 (human)

description: An EARP and GARP complex-interacting protein 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-222 of the amino acid sequence represented by UniProtKB:Q53HC9. UniProtKB:Q53HC9, Cys-222, MOD:00765.


name: localized junctional epidermolysis bullosa, non-Herlitz type

description: Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.


name: junctional epidermolysis bullosa, non-Herlitz type

description: Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.


name: generalized junctional epidermolysis bullosa non-Herlitz type

description: Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.


High-set nipples

description: Placement of the nipples at a higher than normal location.


name: MORN repeat-containing protein 2 isoform 1 (human)

description: A MORN repeat-containing protein 2 isoform 1 that is encoded in the genome of human.


name: methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial, transit peptide removed form (human)

description: A methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q02252, 34-535.


Typical perifissural nodule

description: A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).


name: transcription factor SOX-7 isoform h2 (human)

description: A transcription factor SOX-7 (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:Q9BT81-2.


Nail Discoloration

description: A change in the color of the nail.


Abnormal hypopharynx morphology

description: A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.


Bifid epiglottis

description: A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.


Abnormal epiglottis morphology

description: An abnormality of the epiglottis.


Hypoplasia of the epiglottis

description: Hypoplasia of the epiglottis.


Epiglottic enlargement

description: Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis.


Aplasia/Hypoplasia of the Epiglottis

description: This term applies if the Epiglottis is absent or hypoplastic.


Aplasia of the epiglottis

description: Absence of the epiglottis.


carbonic anhydrase 1 isoform 1 (human)

A vertebrate-type carbonic anhydrase 1 isoform 1 that is encoded in the genome of human.


name: carbonic anhydrase 1, initiator methionine removed form (human)

description: A carbonic anhydrase 1 (human) that has had the initiator methionine removed. UniProtKB:P00915, 2-261.


name: ephrin type-B receptor 4 isoform h2 (human)

description: An ephrin type-B receptor 4 (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:P54760-2.


protein RCC2 methylated 4 (human)

A protein RCC2 (human) that has been methylated on the residue at the position equivalent to Cys-337 of the amino acid sequence represented by UniProtKB:Q9P258. UniProtKB:Q9P258, Cys-337, MOD:00660.


PDZ domain-containing protein GIPC2

A protein that is a translation product of the human GIPC2 gene or a 1:1 ortholog thereof.


acute intestinal ischemia

description: Ischemia of the intestine that is rapid in onset.


name: collagen alpha-1(I) chain, signal peptide removed 4-hydroxy-proline and galactosylhydroxylysine form (human)

description: A collagen alpha-1(I) chain (human) that has had the signal peptide removed and that includes at least 1 galactosylhydroxylated lysine and at least 3 4-hydroxy-prolines. UniProtKB:P02452, 23-1464, MOD:00039(3+)|MOD:01914.


chronic gonococcal salpingitis

description: Chronic form of gonococcal salpingitis.


SEC14-like protein 2 isoform 1 (human)

A SEC14-like protein 2 isoform 1 that is encoded in the genome of human.


name: Abnormal circulating gastrin concentration

description: An abnormal concentration of gastrin in the blood.


name: Ras-related protein Rap-1b isoform h4 (human)

description: A Ras-related protein Rap-1b (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:P61224-4.


name: G-protein coupled receptor 37-like 1, signal peptide removed form (human)

description: A G-protein coupled receptor 37-like 1 (human) that has had the signal peptide removed. UniProtKB:O60883, 26-481.


name: complement C1q-like protein 3 isoform h2 (human)

description: A complement C1q-like protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5VWW1-2.


name: monoacylglycerol lipase ABHD2 methylated 1 (human)

description: A monoacylglycerol lipase ABHD2 (human) that has been methylated on the residue at the position equivalent to Cys-405 of the amino acid sequence represented by UniProtKB:P08910. UniProtKB:P08910, Cys-405, MOD:00660.


name: 14-3-3 protein theta cysteinylated 1 (human)

description: A 14-3-3 protein theta (human) that has been cysteinylated on the residue at the position equivalent to Cys-25 of the amino acid sequence represented by UniProtKB:P27348. UniProtKB:P27348, Cys-25, MOD:00765.


Breast Cellular Fibroadenoma

description: A fibroadenoma characterized by the presence of a pericanalicular growth pattern, increased stromal cellularity, and less than 2 mitoses per 10 high-power fields.


name: histone-lysine N-methyltransferase EHMT2 methylated 4 (human)

description: A histone-lysine N-methyltransferase EHMT2 (human) that has been methylated on the residue at the position equivalent to Cys-743 of the amino acid sequence represented by UniProtKB:Q96KQ7-1. Example: UniProtKB:Q96KQ7-1, Cys-743, MOD:00660.


name: B-cell scaffold protein with ankyrin repeats isoform h1 (human)

description: A B-cell scaffold protein with ankyrin repeats (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:Q8NDB2-1.


name: breast cancer type 1 susceptibility protein sequence variant R388* (human)

description: A breast cancer type 1 susceptibility protein (human) that has has been truncated after the position equivalent to Ser-387 of the amino acid sequence represented by UniProtKB:P38398-1. Example: UniProtKB:P38398-1, 1-387.


name: ataxin-2-like protein phosphorylated 1 (human)

description: An ataxin-2-like protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-409 of the amino acid sequence represented by UniProtKB:Q8WWM7-1. Example: UniProtKB:Q8WWM7-1, Ser-409, MOD:00046.


CD48 antigen isoform h2 (human)

A CD48 antigen (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:P09326-2.


description: A disorder seen following cancer chemotherapy. It typically manifests a few years after initiation of epipodophyllotoxin chemotherapy. Mutagenic potential of these non-intercalating DNA topoisomerase II inhibitors is believed to be increased with concurrent use of asparaginase or granulocyte colony-stimulating factor. Balanced translocations involving chromosomal bands 11q23 and 21q22 are commonly associated with this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course usually progresses to acute myeloid leukemia though most epipodophyllotoxin-related leukemias do not have an antecedent myelodysplastic phase. Prognosis is dismal with survivability usually less than one year.


name: ATPase family gene 2 protein homolog A isoform h1 (human)

description: An ATPase family gene 2 protein homolog A (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:Q8NB90-1.


An alpha-D-Galp-(1->3)-D-Manp in which the mannopyranose moiety has beta- configuration at the anomeric centre.


name: histone-lysine N-methyltransferase ASH1L phosphorylated 4 (human)

description: A histone-lysine N-methyltransferase ASH1L (human) that has been phosphorylated on the residue at the position equivalent to Thr-1392 of the amino acid sequence represented by UniProtKB:Q9NR48-1. Example: UniProtKB:Q9NR48-1, Thr-1392, MOD:00047.


name: liver inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


name: citrate synthase, mitochondrial, transit peptide removed form (human)

description: A citrate synthase, mitochondrial (human) that has had the transit peptide removed. UniProtKB:O75390, 28-466.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human)

description: A sex hormone-binding globulin isoform with conserved glycosylation sites (human) that has had the signal peptide removed and has been post-translationally modified to include O-glycosylation and N-glycosylation on residues equivalent to Thr-36 and Asn-396, respectively, of the amino acid sequence represented by UniProtKB:P04278-1. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, MOD:00831.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 13 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7846. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7846.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 15 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7764. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7764.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 12 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7763. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7763.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 10 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7863. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7863.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 14 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7674. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7674.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 11 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7834. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7834.


name: NFATC2-interacting protein cysteinylated 1 (human)

description: An NFATC2-interacting protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-332 of the amino acid sequence represented by UniProtKB:Q8NCF5-1. Example: UniProtKB:Q8NCF5-1, Cys-332, MOD:00765.


name: cell adhesion molecule 1 isoform h3 (human)

description: A cell adhesion molecule 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:Q9BY67-3.


microcephalin isoform h2 (human)

A microcephalin (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:Q8NEM0-2.


name: phosphoenolpyruvate carboxykinase deficiency, cytosolic

description: PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).


name: thyroid receptor-interacting protein 11 phosphorylated 1 (human)

description: A thyroid receptor-interacting protein 11 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1420 of the amino acid sequence represented by UniProtKB:Q15643-1. Example: UniProtKB:Q15643-1, Ser-1420, MOD:00046.


diaphragmatic eventration

description: A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.


helium-6 atom

The radioactive isotope of helium with relative atomic mass 6.01889 and half-life of 806.7 ms.


helium-4 atom

The stable isotope of helium with relative atomic mass 4.002603. The most abundant (99.99 atom percent) isotope of naturally occurring helium.


helium-3 atom

The stable isotope of helium with relative atomic mass 3.016029. The least abundant (0.000137 atom percent) isotope of naturally occurring helium.


xenon (129Xe) hyperpolarized

The stable isotope of xenon with relative atomic mass 128.904780, 26.4 atom percent natural abundance and nuclear spin 1/2.


helium-8 atom

The radioactive isotope of helium with relative atomic mass 8.03392 and half-life of 119.0 ms.


name: centrosome-associated protein ALMS1 isoform h2 (human)

description: A centrosome-associated protein ALMS1 (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:Q8TCU4-2.


name: Epidermal Growth Factor Receptor Inhibitor-Induced Acneiform Lesion

description: Acneiform dermatitis caused by epidermal growth factor receptor inhibitory therapy in a dose-dependent manner.


uromodulin N-glycosylated 24 (human)

A uromodulin (human) that has been N-glycosylated at the residue equivalent to Asn-232 of the amino acid sequence represented by UniProtKB:P07911-1, in which the glycan structure is represented by GlyTouCan:G46185ND. Example: UniProtKB:P07911-1, Asn-232, MOD:00160~GNO:G46185ND.


EBV-Related Carcinoma

description: Carcinoma that develops in individuals infected with Epstein-Barr virus (EBV), and in which there is a well-documented association between the neoplastic process and EBV.


name: 5'-nucleotidase domain-containing protein 2 isoform h4 (human)

description: A 5'-nucleotidase domain-containing protein 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:Q9H857-4.


leukocyte adhesion deficiency 3

description: Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.


name: protein lifeguard 2 phosphorylated 1 (human)

description: A protein lifeguard 2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-273 of the amino acid sequence represented by UniProtKB:Q9BWQ8-1. Example: UniProtKB:Q9BWQ8-1, Thr-273, MOD:00047.


name: Low Grade Pancreatic Intraepithelial Neoplasia

description: Pancreatic intraepithelial neoplasia characterized by the presence of low grade epithelial dysplasia.


Pancreatic Intraepithelial Neoplasia-1A

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat architectural patterns.  Mild cytological atypia is present.


Moderate pancreatic duct dysplasia

description: A pancreatic mucinous intraepithelial neoplasia characterized by the presence of papillary and less often flat architectural patterns.  Moderate cytological atypia is present with some loss of nuclear polarity, nuclear crowding or hyperchromatism.


Pancreatic Intraepithelial Neoplasia-1B

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form papillary, micropapillary, or basally pseudostratified architectural patterns.  Mild cytological atypia is present.


Pancreatic Intraepithelial Neoplasia-1

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat or papillary, micropapillary, and basally pseudostratified architectural patterns.  Mild cytological atypia is present.


name: paired amphipathic helix protein Sin3b isoform h3 (human)

description: A paired amphipathic helix protein Sin3b (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:O75182-3.


A ceramide phosphoethanolamine (35:2) in which the specified spingoid base and acyl group specified are (4E,6E)-tetradecasphingadienine and heneicosanoyl respectively.


Early balding

description: Loss of scalp hair at an earlier than normal age.


name: sperm-associated antigen 6 isoform h1 (human)

description: A sperm-associated antigen 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75602-1.


sperm-associated antigen 6

A protein that is a translation product of the human SPAG6 gene or a 1:1 ortholog thereof.


name: sperm-associated antigen 6 isoform h2 (human)

description: A sperm-associated antigen 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75602-2.


name: sperm-associated antigen 6 isoform h5 (human)

description: A sperm-associated antigen 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75602-5.


name: sperm-associated antigen 6 isoform h3 (human)

description: A sperm-associated antigen 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75602-3.


name: sperm-associated antigen 6 isoform h4 (human)

description: A sperm-associated antigen 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75602-4.


name: transcription factor Sp4 deaminated 1 (human)

description: A transcription factor Sp4 (human) that has been deaminated on the residue at the position equivalent to Gln-410 of the amino acid sequence represented by UniProtKB:Q02446. UniProtKB:Q02446, Gln-410, MOD:00685.


The pentacyclic triterpenoid that is the 11alpha-hydroxy derivative of beta-amyrin.


name: ATPase family AAA domain-containing protein 5 deaminated 1 (human)

description: An ATPase family AAA domain-containing protein 5 (human) that has been deaminated on the residue at the position equivalent to Asn-632 of the amino acid sequence represented by UniProtKB:Q96QE3-1. Example: UniProtKB:Q96QE3-1, Asn-632, MOD:00684.


arylsulfatase H deaminated 1 (human)

An arylsulfatase H (human) that has been deaminated on the residue at the position equivalent to Gln-336 of the amino acid sequence represented by UniProtKB:Q5FYA8. UniProtKB:Q5FYA8, Gln-336, MOD:00685.


name: ALK tyrosine kinase receptor sequence variant L1196N, signal peptide removed form (human)

description: An ALK tyrosine kinase receptor (human) that has an Asn residue at the position equivalent to Leu-1196 of the amino acid sequence represented by UniProtKB:Q9UM73 and that has had the signal peptide removed. UniProtKB:Q9UM73, 19-1620, Leu-1196, CHEBI:50347.


Erectile dysfunction

description: A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


Autonomic erectile dysfunction

description: Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.


An S-acyl-4'-phosphopantetheine obtained by formal condensation of the thiol group of D-pantetheine 4'-phosphate with one of the carboxy groups of malonic acid.


netrin receptor UNC5C isoform 1 (human)

A netrin receptor UNC5C isoform 1 that is encoded in the genome of human.


pyrazoxyfen

A member of the class of pyrazoles that is 1,3-dimethylpyrazole which is substituted at positions 4 and 5 by  2,4-dichlorobenzoyl and 2-oxo-2-phenylethoxy groups, respectively. A pro-herbicide (for the corresponding 5-hydroxypyrazole), it is used as a pre- or post-emergence herbicide for the control of annual and perennial weeds in rice.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1 that is encoded in the genome of human.


name: U4/U6 small nuclear ribonucleoprotein Prp31

description: A protein that is a translation product of the human PRPF31 gene or a 1:1 ortholog thereof.


name: U4/U6 small nuclear ribonucleoprotein Prp31 methylated 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (human) that has been methylated on the residue at the position equivalent to Cys-247 of the amino acid sequence represented by UniProtKB:Q8WWY3-1. Example: UniProtKB:Q8WWY3-1, Cys-247, MOD:00660.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform h4 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (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:Q8WWY3-4.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform h3 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (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:Q8WWY3-3.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform h2 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (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:Q8WWY3-2.


name: U4/U6 small nuclear ribonucleoprotein Prp31 deaminated 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (human) that has been deaminated on the residue at the position equivalent to Asn-144 of the amino acid sequence represented by UniProtKB:Q8WWY3-1. Example: UniProtKB:Q8WWY3-1, Asn-144, MOD:00684.


name: U4/U6 small nuclear ribonucleoprotein Prp31 cysteinylated 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (human) that has been cysteinylated on the residue at the position equivalent to Cys-247 of the amino acid sequence represented by UniProtKB:Q8WWY3-1. Example: UniProtKB:Q8WWY3-1, Cys-247, MOD:00765.


taste receptor type 2 member 5

A taste receptor type 2 that is a translation product of the human TAS2R5 gene or a 1:1 ortholog thereof.


name: Patient-Specific Neoantigen-Positive Malignant Solid Neoplasm

description: A malignant solid neoplasm that expresses unique tumor-specific neoantigens in a single patient.


fibulin-2 O-glycosylated 9 (human)

A fibulin-2 (human) that has been O-glycosylated at the residue equivalent to Thr-210 of the amino acid sequence represented by UniProtKB:P98095-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P98095-1, Thr-210, MOD:00005~GNO:G58001LT.


name: Elevated circulating heptacarboxylporphyrin concentration

description: The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.


leiomodin-3 isoform h2 (human)

A leiomodin-3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q0VAK6-2.


name: serine/threonine-protein kinase 26 isoform h2 (human)

description: A serine/threonine-protein kinase 26 (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:Q9P289-2.


name: fibroblast growth factor receptor 2 sequence variant N549H, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 (human) that has a His residue at the position equivalent to Asn-549 of the amino acid sequence represented by UniProtKB:P21802-1 and that has had the signal peptide removed. Example: UniProtKB:P21802-1, 22-821, Asn-549, CHEBI:29979.


name: LIM/homeobox protein Lhx5 isoform 1 (human)

description: A LIM/homeobox protein Lhx5 isoform 1 that is encoded in the genome of human.


name: pleckstrin homology domain-containing family B member 1 isoform h3 (human)

description: A pleckstrin homology domain-containing family B member 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:Q9UF11-3.


name: activating signal cointegrator 1 complex subunit 3 methylated 3 (human)

description: An activating signal cointegrator 1 complex subunit 3 (human) that has been methylated on the residue at the position equivalent to Cys-1343 of the amino acid sequence represented by UniProtKB:Q8N3C0-1. Example: UniProtKB:Q8N3C0-1, Cys-1343, MOD:00660.


name: lysosome membrane protein 2 N-glycosylated 8 (human)

description: A lysosome membrane protein 2 (human) that has been N-glycosylated on the residue at the position equivalent to Asn-224 of the amino acid sequence represented by UniProtKB:Q14108-1. Example: UniProtKB:Q14108-1, Asn-224, MOD:00160.


name: B Acute Lymphoblastic Leukemia with TCF3-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF3-HLF gene rearrangement resulting in the formation of TCF3-HLF chimeric transcription factor. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with HLF gene rearrangement. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with TCF4-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF4-HLF gene rearrangement resulting in the formation of TCF4-HLF chimeric transcription factor. The prognosis is poor.


name: squamous cell carcinoma antigen recognized by T-cells 3 methylated 1 (human)

description: A squamous cell carcinoma antigen recognized by T-cells 3 (human) that has been methylated on the residue at the position equivalent to Cys-812 of the amino acid sequence represented by UniProtKB:Q15020-1. Example: UniProtKB:Q15020-1, Cys-812, MOD:00660.


name: RWD domain-containing protein 2B cysteinylated 1 (human)

description: An RWD domain-containing protein 2B (human) that has been cysteinylated on the residue at the position equivalent to Cys-70 of the amino acid sequence represented by UniProtKB:P57060. UniProtKB:P57060, Cys-70, MOD:00765.


Retinal fold

description: A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.


name: Retinal detachments and defects, unspecified

description: An imperfection if the retina of the eye in association with detachment of the retina from its blood supply.


Retinal defect, unspecified

description: An imperfection of the retina of the eye.


name: inhibitor of growth protein 3 isoform h3 (human)

description: An inhibitor of growth protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NXR8-3.


name: inhibitor of growth protein 3 isoform h1 (human)

description: An inhibitor of growth protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NXR8-1.


name: inhibitor of growth protein 3 isoform h2 (human)

description: An inhibitor of growth protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NXR8-2.


name: chromosome 4Q32.1-q32.2 triplication syndrome


name: partial duplication of the long arm of chromosome 4

description: Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.


distal trisomy 4q

description: Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.


A nitrile that is acetonitrile where one of the methyl hydrogens is substituted by a 2-thienyl group.


Chronic gouty nephropathy

description: Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium.


Non-Neoplastic Kidney Disorder

description: A non-neoplastic disorder that affects the renal parenchyma and/or renal pelvis. Representative examples include glomerulonephritis and pyelonephritis.


Minimal mesangial lupus nephritis

description: A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.


Nephrotic Syndrome - ADCK4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene.


multicystic dysplastic kidney

description: Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.


Nephrotic Syndrome - MYO1E Associated

description: Nephrotic syndrome attributed to mutation(s) in the MYO1E gene.


Obesity Related Glomerulopathy

description: Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity.


name: tubulointerstitial kidney disease, autosomal dominant, 2

description: An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.


Thrombosis of renal artery

description: The formation of a thrombus in the renal artery.


Membranous Nephropathy - THSD7A Induced

description: Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies.


name: Pauci-Immune Glomerulonephritis - Renal Limited

description: Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney.


Acute Cortical Necrosis

description: Acute kidney injury caused by ischemic necrosis of the renal cortex.


Nephropathy due to Ciclosporin

description: Kidney damage resulting from ciclosporin.


name: Chronic kidney disease due to hypertension

description: Longstanding kidney disease as a complication of hypertension.


Stage 1 chronic kidney disease

description: A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).


name: Nephrotic Syndrome - Simian Virus 40 Associated

description: Nephrotic syndrome associated with a simian virus 40 infection.


name: Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease

description: Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions.


name: Nephrotic Syndrome - Human Immunodeficiency Virus Associated

description: Nephrotic syndrome associated with human immunodeficiency virus infection.


pyonephrosis

description: Pus within the collecting system of the kidney.


Uric acid nephropathy acute

description: Kidney damage resulting from uric acid precipitation within the renal tubules.


contrast-induced nephropathy

description: Kidney damage resulting from exposure to contrast agents.


description: Tubulointerstitial nephritis resulting from a drug exposure.


Renal Pelvis Fibroepithelial Polyp

description: A benign, mesodermal tumor located in the renal pelvis.


name: Nephrotic syndrome with lesion of proliferative glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells and expansion of the mesangial matrix. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Reflux nephropathy (disorder)

description: Chronic kidney damage due to vesicoureteral reflux.


Nephropathy due to Tacrolimus

description: Kidney damage resulting from tacrolimus.


name: Congenital Nephrotic Syndrome - Rubivirus Associated

description: Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life.


name: Nephrotic Syndrome - Infection Associated

description: Nephrotic syndrome associated with an infectious process.


Glomerular vascular disorder

description: A disorder that is caused by pathologic changes in the glomerular vasculature.


name: Nephrotic Syndrome - SMARCAL1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene.


name: glomerulopathy with fibronectin deposits 2

description: Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.


Nephrotic Syndrome - CFH Associated

description: Nephrotic syndrome attributed to mutation(s) in the CFH gene.


Chronic glomerulonephritis

description: A chronic, persistent inflammation of the glomeruli, which is slowly progressive, leading to impaired kidney function.


name: Acute renal papillary necrosis with renal failure

description: Sudden and sustained deterioration of the kidney function with decreased glomerular filtration rate, and concommittant necrosis of the renal papillae; representative causes include sickle cell disease, heave analgesic use, diabetes mellitus, and pyelonephritis.


Nephrotic Syndrome - ITGA3 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene.


name: Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis

description: Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present.


Nephropathy due to Aminoglycosides

description: Kidney damage resulting from aminoglycosides.


name: Chronic glomerulonephritis with lesion of membranous glomerulonephritis

description: A slowly progressive inflammation of the glomeruli characterized by immune complex deposits on the epithelial side of the glomerular basement membrane.


name: Membranous Nephropathy - Autoimmune Disorder Associated

description: Membranous nephropathy associated with an autoimmune disorder.


Nephrotic Syndrome - CRB2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the CRB2 gene.


Familial immunoglobulin A nephropathy

description: IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring.


Acquired calyceal diverticulum

description: An out-pouching of the calyx into the renal parenchyma.


Nephrotic Syndrome - PDSS2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene.


name: Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by scarring of some of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Nephrotic Syndrome - COQ2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the COQ2 gene.


name: Systemic Lupus Erythematosus Nephritis Class V

description: Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Hantavirus nephropathy

description: Tubulointerstitial hemorrhage resulting from hantavirus infection.


Henoch-Schonlein purpura nephritis

description: Glomerulonephritis in the context of Henoch-Schönlein purpura.


name: Chronic Kidney Disease due to Diabetes Mellitus

description: Longstanding kidney disease as a complication of diabetes.


Renal infarction

description: Ischemic necrosis of the kidney caused by interruption of the blood supply to the area.


name: Acute Kidney Injury with Renal Replacement Therapy Related to COVID-19

description: Abrupt reduction in kidney function as measured by urine output and renal biomarkers requiring any renal replacement therapy in a patient with probable or confirmed acute COVID-19.


Leptospirosis Nephropathy

description: Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury.


Cryoglobulinemic glomerulonephritis

description: Glomerulonephritis in the context of cryoglobulinemia.


name: Chemotherapeutic Drug - Induced Nephropathy

description: Kidney damage resulting from exposure to chemotherapeutic drugs.


IgM - Associated Nephropathy

description: A condition characterized by deposition of IgM antibody in the glomerulus.


NSAID-Induced Nephropathy

description: Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs).


Idiopathic Membranous Glomerulopathy

description: Chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown.


Microcystic renal disease

description: A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla.


Focal lupus nephritis

description: A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations


Idiopathic Renal Papillary Necrosis

description: Necrosis of the renal papillae, for which no underlying cause has been identified.


Diffuse glomerulosclerosis

description: A renal disorder characterized by glomerular damage due to ischemia. It leads to progressive deterioration of renal function.


name: Nephrotic Syndrome with Lesion of Persistent Glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by a chronic inflammatory reaction in the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


name: Systemic Lupus Erythematosus Nephritis Class IV G

description: Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


name: Nephrotic Syndrome - ARHGAP24 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene.


Chronic kidney disease stage 3B

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 30-44 ml/min.


Advanced sclerotic lupus nephritis

description: A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.


name: Calcineurin Inhibitor - Induced Nephropathy

description: Kidney damage resulting from exposure to calcineurin inhibitors.