name: microcystic variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by microcysts formation.


name: infiltrating bladder urothelial carcinoma, clear cell variant

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

description: An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.


name: nested variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by a nested growth pattern.


name: micropapillary variant infiltrating bladder urothelial carcinoma

description: An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003


name: infiltrating bladder lymphoepithelioma-like carcinoma

description: Invasive bladder urothelial carcinoma with lymphoepithelioma-like features.


name: lipid-cell variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.


name: Cardiovascular System Signs and Symptoms

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


Typical Coronary Artery Disease Symptom

description: Deep, poorly localized chest or arm discomfort that is reproducibly associated with physical exertion or emotional stress and is relieved promptly (i.e., in less than 5 minutes) with rest and/or the use of sublingual nitroglycerin. Some patients may have no chest discomfort but present solely with jaw, neck, ear, arm, shoulder, back, or epigastric discomfort or with unexplained dyspnea without discomfort. If these symptoms have a clear relationship to exertion or stress or are relieved promptly with nitrates, they should be considered equivalent to angina. J Am Coll Cardiol, 2007; 50:1-157, doi:10.1016/j.jacc.2007.02.013 (Published online 6 August 2007). (ACC)


name: Atypical Coronary Artery Disease Symptom

description: Sharp stabbing chest pain or reproduction of pain on palpation. Less common isolated presentations, primarily in older adults, include nausea and vomiting, diaphoresis, and unexplained fatigue. J Am Coll Cardiol, 2007; 50:1-157, doi:10.1016/j. jacc.2007.02.013 (Published online 6 August 2007). (ACC)


Carotid Bruit

description: An innocent murmur with a medium pitched, harsh character heard at the right or left upper sternal border, supraclavicular region, or anterior portion of the lower neck that disappears with bilateral shoulder hyperextension. (ACC/AHA)


Hemodynamic instability

description: A state of hypoperfusion that does not support normal organ perfusion or function. It can include periods of reduced, unstable, or abnormal blood pressure with near syncope, or episodes of syncope.


Tricuspid Valve Regurgitation Velocity

description: A measurement of the backward flow of blood through the tricuspid valve during right ventricle contraction. It correlates with pulmonary artery systolic pressure at rest and with exercise. A tricuspid regurgitation velocity greater than or equal to 2.5 m/sec on echocardiography is a surrogate marker for pulmonary hypertension in adults with sickle cell disease.


Innocent Pulmonary Systolic Murmur

description: An innocent murmur with a medium pitched, harsh character heard at the left middle and left upper sternal border that disappears with upright position. (ACC/AHA)


Innocent Murmur

description: A clinical finding in which turbulent flow is noted by auscultation that is not associated with any structural cardiac defects. (ACC/AHA)


name: Physiologic Pulmonary Artery Stenosis Murmur

description: An innocent murmur with a medium or high pitched, blowing character heard at the left middle sternal border that can also be heard at the same volume across the precordium and back that does not disappear with maneuvers but is only heard in infants less than six months of age. (ACC/AHA)


Pathologic Murmur

description: A clinical finding in which turbulent flow is noted by auscultation that is associated with a structural cardiac defect. (ACC/AHA)


Still's Murmur

description: An innocent murmur with a medium pitched, vibratory character heard at the apex, left lower sternal border, left middle sternal border, and right upper sternal border that disappears or becomes quieter and localizes to the left lower sternal border on upright position. (ACC/AHA)


Cardiovascular Manifestation

description: Patient complaints (symptoms), physical/laboratory findings(signs) related to the cardiovascular system.


Atypical angina

description: Angina pectoris which does not have associated classical symptoms of chest pain. Symptoms may include weakness, nausea, or sweating.


Venous Hum

description: An innocent murmur with a medium pitched, blowing character with diastolic accentuation heard at the right or left upper sternal border that disappears with jugular venous compression or supine position. (ACC/AHA)


name: Transvalvular Pressure Gradient Increased

description: Increased pressure across the heart valve.


Mammary Souffle

description: An innocent murmur with a medium or high pitched, blowing character with continuous flow with systolic accentuation heard over or above the breasts that disappears with compression of the breast tissue. (ACC/AHA)


Palpitations

description: A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.


name: collagen alpha-1(XI) chain isoform r6 (rat)

description: A collagen alpha-1(XI) chain (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20909-6.


name: VDAC4_ARATH Mitochondrial outer membrane protein porin 4 (sprot)

description: A protein that is a translation product of the VDAC4 gene in Arabidopsis thaliana.


name: AIP1_DICDI Actin-interacting protein 1 (sprot)

description: A WD repeat-containing protein 1 that is encoded in the genome of Dictyostelium discoideum.


Invasive Tubular Urothelial Carcinoma

description: Invasive urothelial carcinoma characterized by the presence of a tubular growth pattern.


name: Invasive Bladder Tubular Urothelial Carcinoma

description: Invasive bladder urothelial carcinoma characterized the presence of a tubular growth pattern.


infective endocarditis

description: Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.


mycotic endocarditis

description: An endocarditis (disease) caused by infection with Fungi.


Libman-Sacks endocarditis

description: An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


marantic endocarditis

description: Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).


name: MIB1_DANRE E3 ubiquitin-protein ligase mib1 (sprot)

description: An E3 ubiquitin-protein ligase MIB1 that is encoded in the genome of zebrafish.


Prostate Cancer cM1c TNM Finding v7

description: Prostate cancer with metastasis to other site(s) with or without bone disease. (from AJCC 7th Ed.)


name: polypeptide N-acetylgalactosaminyltransferase 2 isoform m1 (mouse)

description: A polypeptide N-acetylgalactosaminyltransferase 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6PB93-1.


name: GALT2_MOUSE Polypeptide N-acetylgalactosaminyltransferase 2 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 2 that is encoded in the genome of mouse.


name: polypeptide N-acetylgalactosaminyltransferase 2 isoform m2 (mouse)

description: A polypeptide N-acetylgalactosaminyltransferase 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6PB93-2.


plasmolipin

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


Q9VZ71_DROME RE01453p (trembl)

A plasmolipin that is encoded in the genome of fruit fly.


PLLP_RAT Plasmolipin (sprot)

A plasmolipin that is encoded in the genome of rat.


plasmolipin isoform 1 (human)

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


plasmolipin isoform 1

A plasmolipin 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:Q9Y342-1 or a 1:1 ortholog thereof.


plasmolipin isoform 1 (rat)

A plasmolipin isoform 1 that is encoded in the genome of rat.


plasmolipin isoform 1 (mouse)

A plasmolipin isoform 1 that is encoded in the genome of mouse.


PLLP_MOUSE Plasmolipin (sprot)

A plasmolipin that is encoded in the genome of mouse.


PLLP_HUMAN Plasmolipin (sprot)

A plasmolipin that is encoded in the genome of human.


name: COMM domain-containing protein 7 isoform h2 (human)

description: A COMM domain-containing protein 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:Q86VX2-2.


COMM domain-containing protein 7

A protein that is a translation product of the human COMMD7 gene or a 1:1 ortholog thereof.


name: COMM domain-containing protein 7 isoform 1 (human)

description: A COMM domain-containing protein 7 isoform 1 that is encoded in the genome of human.


name: COMD7_MOUSE COMM domain-containing protein 7 (sprot)

description: A COMM domain-containing protein 7 that is encoded in the genome of mouse.


name: COMD7_HUMAN COMM domain-containing protein 7 (sprot)

description: A COMM domain-containing protein 7 that is encoded in the genome of human.


name: COMM domain-containing protein 7 isoform 1 (mouse)

description: A COMM domain-containing protein 7 isoform 1 that is encoded in the genome of mouse.


name: COMM domain-containing protein 7 isoform 1

description: A COMM domain-containing protein 7 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:Q86VX2-1 or a 1:1 ortholog thereof.


name: COMM domain-containing protein 7 cysteinylated 1 (human)

description: A COMM domain-containing protein 7 (human) that has been cysteinylated on the residue at the position equivalent to Cys-198 of the amino acid sequence represented by UniProtKB:Q86VX2-1. Example: UniProtKB:Q86VX2-1, Cys-198, MOD:00765.


name: COMD7_DICDI COMM domain-containing protein 7 (sprot)

description: A COMM domain-containing protein 7 that is encoded in the genome of Dictyostelium discoideum.


polyp of sphenoidal sinus

description: A polyp that involves the sphenoidal sinus.


name: OR4K3_HUMAN Olfactory receptor 4K3 (sprot)

description: An olfactory receptor 4K3 that is encoded in the genome of human.


name: very large A-kinase anchor protein phosphorylated 3 (human)

description: A very large A-kinase anchor protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-1520 of the amino acid sequence represented by UniProtKB:Q68DQ2-3. Example: UniProtKB:Q68DQ2-3, Ser-1520, MOD:00046.


name: MU191_SCHPO Meiotically up-regulated gene 191 protein (sprot)

description: A protein that is a translation product of the mug191 gene in Schizosaccharomyces pombe 972h-.


name: spermatogenesis-associated serine-rich protein 2 isoform m2 (mouse)

description: A spermatogenesis-associated serine-rich protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K1N4-2.


nucleoporin p58/p45 isoform 3 (human)

A nucleoporin p58/p45 isoform 3 that is encoded in the genome of human.


name: TPC10_MOUSE Trafficking protein particle complex subunit 10 (sprot)

description: A trafficking protein particle complex subunit 10 that is encoded in the genome of mouse.


name: trafficking protein particle complex subunit 10 isoform 1 (mouse)

description: A trafficking protein particle complex subunit 10 isoform 1 that is encoded in the genome of mouse.


An isoquinoline alkaloid that is 5,6,11,12-tetrahydro-5,11-epiminodibenzo[a,e][8]annulene substituted at positions 2, 3, 8 and 9 by methoxy groups.


(R,R)-pavine

The (R,R)-enantiomer of pavine.


(S,S)-pavine

The (S,S)-enantiomer of pavine.


name: HSCA_ECOLI Chaperone protein HscA (sprot)

description: A chaperone protein HscA that is encoded in the genome of Escherichia coli K-12.


name: ankyrin repeat domain-containing protein 53 isoform h1 (human)

description: An ankyrin repeat domain-containing protein 53 (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:Q8N9V6-1.


name: YD278_YEAST Uncharacterized protein YDR278C (sprot)

description: A protein that is a translation product of the YDR278C gene in yeast.


name: plasma protease C1 inhibitor isoform h1 (human)

description: A plasma protease C1 inhibitor (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:P05155-1.


Limitation of neck motion

description: Limited mobility of the neck, usually accompanied by pain.


name: cytokine receptor common subunit gamma, signal peptide removed form (human)

description: A cytokine receptor common subunit gamma (human) that has had the signal peptide removed. UniProtKB:P31785, 23-369.


name: T-complex protein 1 subunit alpha cysteinylated 2 (human)

description: A T-complex protein 1 subunit alpha (human) that has been cysteinylated on the residue at the position equivalent to Cys-397 of the amino acid sequence represented by UniProtKB:P17987. UniProtKB:P17987, Cys-397, MOD:00765.


urotensin-2 isoform 1 (rat)

A urotensin-2 isoform 1 that is encoded in the genome of rat.


UTS2_RAT Urotensin-2 (sprot)

A urotensin-2 that is encoded in the genome of rat.


BYST_ARATH Bystin (sprot)

A bystin that is encoded in the genome of Arabidopsis thaliana.


name: dynamin-related protein 3A isoform 1 (Arabidopsis thaliana)

description: A dynamin-related protein 3A (Arabidopsis thaliana) 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:Q8S944-1.


name: DRP3A_ARATH Dynamin-related protein 3A (sprot)

description: A dynamin-1-like protein that is encoded in the genome of Arabidopsis thaliana.


name: dynamin-related protein 3A isoform 2 (Arabidopsis thaliana)

description: A dynamin-related protein 3A (Arabidopsis thaliana) 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:Q8S944-2.


name: cellular tumor antigen p53 sequence variant E180* (human)

description: A cellular tumor antigen p53 (human) that has has been truncated after the position equivalent to His-179 of the amino acid sequence represented by UniProtKB:P04637-1. Example: UniProtKB:P04637-1, 1-179.


name: ARX1_YEAST Probable metalloprotease ARX1 (sprot)

description: A protein that is a translation product of the ARX1 gene in yeast.


name: GLIT1_CAEEL Neuroligin-like protein glit-1 (sprot)

description: A protein that is a translation product of the glit-1 gene in worm.


name: nucleotide exchange factor SIL1 isoform 1 (mouse)

description: A nucleotide exchange factor SIL1 isoform 1 that is encoded in the genome of mouse.


name: nucleotide exchange factor SIL1 isoform 1

description: A nucleotide exchange factor SIL1 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:Q9EPK6-1 or a 1:1 ortholog thereof.


name: nucleotide exchange factor SIL1 isoform 1 (rat)

description: A nucleotide exchange factor SIL1 isoform 1 that is encoded in the genome of rat.


myosin-11 isoform m2 (mouse)

A myosin-11 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O08638-2.


protocadherin-15 isoform h3 (human)

A protocadherin-15 (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:Q96QU1-3.


tunicamycin B2

A nucleoside that is one of the homologues in the mixture that is tunicamycin, characterised by a 13-methyltetradec-2-enoyl fatty acyl substituent on the amino group of the tunicamine moiety.


name: myotonin-protein kinase isoform m6 (mouse)

description: A myotonin-protein kinase (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54265-6.


gamma-enolase deaminated 1 (mouse)

A gamma-enolase (mouse) that has been deaminated on the residue at the position equivalent to Gln-298 of the amino acid sequence represented by UniProtKB:P17183. UniProtKB:P17183, Gln-298, MOD:00685.


vitamin D-dependent rickets, type 1

description: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


name: ARP5_HUMAN Actin-related protein 5 (sprot)

description: An actin-related protein 5 that is encoded in the genome of human.


name: actin-related protein 5 cysteinylated 1 (human)

description: An actin-related protein 5 (human) that has been cysteinylated on the residue at the position equivalent to Cys-155 of the amino acid sequence represented by UniProtKB:Q9H9F9. UniProtKB:Q9H9F9, Cys-155, MOD:00765.


name: actin-related protein 5 deaminated 1 (human)

description: An actin-related protein 5 (human) that has been deaminated on the residue at the position equivalent to Gln-41 of the amino acid sequence represented by UniProtKB:Q9H9F9. UniProtKB:Q9H9F9, Gln-41, MOD:00685.


name: Grade 3 Hearing Patients without Baseline Audiogram and Not Enrolled in a Monitoring Program, CTCAE


name: GS13_BACSU General stress protein 13 (sprot)

description: A protein that is a translation product of the yugI gene in Bacillus subtilis subsp. subtilis str. 168.


name: HXC8_CHICK Homeobox protein Hox-C8 (sprot)

description: A homeobox protein Hox-C8 that is encoded in the genome of chicken.


homeobox protein Hox-C8

A protein that is a translation product of the human HOXC8 gene or a 1:1 ortholog thereof.


name: HXC8_MOUSE Homeobox protein Hox-C8 (sprot)

description: A homeobox protein Hox-C8 that is encoded in the genome of mouse.


name: homeobox protein Hox-C8 isoform 1 (human)

description: A homeobox protein Hox-C8 isoform 1 that is encoded in the genome of human.


homeobox protein Hox-C8 isoform 1

A homeobox protein Hox-C8 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:P31273-1 or a 1:1 ortholog thereof.


name: HXC8A_DANRE Homeobox protein Hox-C8a (sprot)

description: A homeobox protein Hox-C8 that is encoded in the genome of zebrafish.


name: homeobox protein Hox-C8 isoform 1 (mouse)

description: A homeobox protein Hox-C8 isoform 1 that is encoded in the genome of mouse.


name: HXC8_HUMAN Homeobox protein Hox-C8 (sprot)

description: A homeobox protein Hox-C8 that is encoded in the genome of human.


name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

description: Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).


name: N-[3-(4-morpholinyl)-5-oxadiazol-3-iumyl]carbamic acid ethyl ester


name: coiled-coil domain-containing protein 38 isoform m1 (mouse)

description: A coiled-coil domain-containing protein 38 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CDN8-1.


name: CCD38_MOUSE Coiled-coil domain-containing protein 38 (sprot)

description: A coiled-coil domain-containing protein 38 that is encoded in the genome of mouse.


name: coiled-coil domain-containing protein 38 isoform m2 (mouse)

description: A coiled-coil domain-containing protein 38 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CDN8-2.


SDH Complex Gene Mutation Negative

description: A genetic finding indicating that SDH complex mutations have not been detected in a sample.


name: Y7169_DICDI Putative uncharacterized protein DDB_G0287169 (sprot)

description: A protein that is a translation product of the DDB_G0287169 gene in Dictyostelium discoideum.


name: Y7203_DICDI Uncharacterized protein DDB_G0286943 (sprot)

description: A protein that is a translation product of the DDB_G0286943 gene in Dictyostelium discoideum.


CFAB_HUMAN Complement factor B (sprot)

A complement factor B that is encoded in the genome of human.


complement factor B

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


name: complement factor B, signal peptide removed form (human)

description: A complement factor B (human) that has had the signal peptide removed. UniProtKB:P00751, 26-764.


name: complement factor B phosphorylated 1 (human)

description: A complement factor B (human) that has been phosphorylated on the residue at the position equivalent to Ser-709 of the amino acid sequence represented by UniProtKB:P00751-1. Example: UniProtKB:P00751-1, Ser-709, MOD:00046.


complement factor B isoform h1 (human)

A complement factor B (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:P00751-1.


complement factor B isoform h2 (human)

A complement factor B (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:P00751-2.


CFAB_MOUSE Complement factor B (sprot)

A complement factor B that is encoded in the genome of mouse.


name: complement factor B, signal peptide removed form

description: A complement factor B that has had the signal peptide removed.


name: complement factor B O-glycosylated 1 (human)

description: A complement factor B (human) that has been O-glycosylated at the residue equivalent to Thr-25 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P00751-1, Thr-25, MOD:00005~GNO:G53434XO.


name: complement factor B proteolytic cleavage product

description: A complement factor B that has been processed by proteolytic cleavage.


name: complement factor B N-glycosylated 1 (human)

description: A complement factor B (human) that has been N-glycosylated at the residue equivalent to Asn-285 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P00751-1, Asn-285, MOD:00160~GNO:G00912UN.


name: complement factor B O-glycosylated 2 (human)

description: A complement factor B (human) that has been O-glycosylated at the residue equivalent to Thr-26 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00751-1, Thr-26, MOD:00005~GNO:G43417UB.


name: complement factor B deaminated 1 (human)

description: A complement factor B (human) that has been deaminated on the residue at the position equivalent to Gln-626 of the amino acid sequence represented by UniProtKB:P00751-1. Example: UniProtKB:P00751-1, Gln-626, MOD:00685.


name: BOS complex subunit TMEM147 isoform 1 (human)

description: A BOS complex subunit TMEM147 isoform 1 that is encoded in the genome of human.


name: TM147_HUMAN BOS complex subunit TMEM147 (sprot)

description: A BOS complex subunit TMEM147 that is encoded in the genome of human.


name: BOS complex subunit TMEM147 methylated 2 (human)

description: A BOS complex subunit TMEM147 (human) that has been methylated on the residue at the position equivalent to Cys-116 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-116, MOD:00660.


name: BOS complex subunit TMEM147 cysteinylated 1 (human)

description: A BOS complex subunit TMEM147 (human) that has been cysteinylated on the residue at the position equivalent to Cys-9 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-9, MOD:00765.


name: BOS complex subunit TMEM147 isoform h2 (human)

description: A BOS complex subunit TMEM147 (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:Q9BVK8-2.


name: BOS complex subunit TMEM147 methylated 3 (human)

description: A BOS complex subunit TMEM147 (human) that has been methylated on the residue at the position equivalent to Cys-9 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-9, MOD:00660.


name: BOS complex subunit TMEM147 methylated 1 (human)

description: A BOS complex subunit TMEM147 (human) that has been methylated on the residue at the position equivalent to Cys-35 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-35, MOD:00660.


Periodic hypokalemic paresis

description: Episodes of muscle weakness associated with reduced levels of potassium in the blood.


periodic paralysis

description: Episodes of muscle weakness.


hyperkalemic periodic paralysis

description: Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.


Grade 2 Biliary Tract Infection, CTCAE

description: Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)


name: FA8_MOUSE Coagulation factor VIII (sprot)

description: A coagulation factor VIII that is encoded in the genome of mouse.


A hydroperoxy fatty acid that is (14R,15S)-epoxy-(5Z,8Z,10E)-icosatrienoic acid in which the hydroperoxy group is located at position 12S.


HYSA_STRPN Hyaluronate lyase (sprot)

A protein that is a translation product of the SP_0314 gene in Streptococcus pneumoniae TIGR4.


hypotrichosis 3

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.


name: T-box transcription factor TBX4 isoform h2 (human)

description: A T-box transcription factor TBX4 (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:P57082-2.


PANS1_ARATH Protein PATRONUS 1 (sprot)

A protein that is a translation product of the PANS1 gene in Arabidopsis thaliana.


acute hemorrhagic conjunctivitis

description: Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

description: Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

description: Keratoconjunctivitis resulting from infection by adenoviruses.


name: PRP3_SCHPO U4/U5/U6 small nuclear ribonucleoprotein prp3 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp3 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


homeobox protein HMX2 isoform 1 (human)

A homeobox protein HMX2 isoform 1 that is encoded in the genome of human.


name: metallothionein-like protein 4A isoform 1 (Arabidopsis thaliana)

description: A metallothionein-like protein 4A (Arabidopsis thaliana) 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:P93746-1.


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


name: outer dense fiber protein 2 isoform h8 (human)

description: An outer dense fiber 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:Q5BJF6-8.


name: cellular tumor antigen p53 sequence variant Q5* (human)

description: A cellular tumor antigen p53 (human) that has has been truncated after the position equivalent to Pro-4 of the amino acid sequence represented by UniProtKB:P04637-1. Example: UniProtKB:P04637-1, 1-4.


name: protein tyrosine phosphatase type IVA 3 isoform 1 (mouse)

description: A protein tyrosine phosphatase type IVA 3 isoform 1 that is encoded in the genome of mouse.


protein tyrosine phosphatase type IVA 3

A protein that is a translation product of the human PTP4A3 gene or a 1:1 ortholog thereof.


name: protein tyrosine phosphatase type IVA 3 cysteinylated 1 (human)

description: A protein tyrosine phosphatase type IVA 3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-49 of the amino acid sequence represented by UniProtKB:O75365-1. Example: UniProtKB:O75365-1, Cys-49, MOD:00765.


name: protein tyrosine phosphatase type IVA 3 isoform 1 (human)

description: A protein tyrosine phosphatase type IVA 3 isoform 1 that is encoded in the genome of human.


name: protein tyrosine phosphatase type IVA 3 isoform h2 (human)

description: A protein tyrosine phosphatase type IVA 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:O75365-2.


name: protein tyrosine phosphatase type IVA 3 isoform 1

description: A protein tyrosine phosphatase type IVA 3 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:O75365-1 or a 1:1 ortholog thereof.


name: TP4A3_HUMAN Protein tyrosine phosphatase type IVA 3 (sprot)

description: A protein tyrosine phosphatase type IVA 3 that is encoded in the genome of human.


name: protein tyrosine phosphatase type IVA 3 isoform h3 (human)

description: A protein tyrosine phosphatase type IVA 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:O75365-3.


name: TP4A3_MOUSE Protein tyrosine phosphatase type IVA 3 (sprot)

description: A protein tyrosine phosphatase type IVA 3 that is encoded in the genome of mouse.


name: K1C18_DANRE Keratin, type I cytoskeletal 18 (sprot)

description: A protein that is a translation product of the krt18 gene in zebrafish.


name: BCAS3 microtubule associated cell migration factor isoform 1

description: A BCAS3 microtubule associated cell migration factor 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:Q9H6U6-1 or a 1:1 ortholog thereof.


name: BCAS3 microtubule associated cell migration factor isoform 1 (mouse)

description: A BCAS3 microtubule associated cell migration factor isoform 1 that is encoded in the genome of mouse.


name: congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

description: Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


spindle cell sarcoma

description: A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.


spindle cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of a spindle cell component only.


intimal sarcoma

description: A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


childhood spindle cell rhabdomyosarcoma

description: A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

description: An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


name: intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

description: Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


spindle cell liposarcoma

description: A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.


name: elongator complex protein 2 isoform h3 (human)

description: An elongator complex 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:Q6IA86-3.


Abnormal alveolar ridge morphology

description: Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.


Alveolar process hypoplasia

description: Underdevelopment of the alveolar process (also known as alveolar bone).


Bilateral alveolar cleft of maxilla

description: Nonmidline alveolar cleft of the maxilla.


Complete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.


name: Incomplete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.


Fibrous syngnathia

description: Complete or nearly complete soft tissue fusion of the alveolar ridges.


Cleft maxillary alveolar ridge

description: A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.


Alveolar ridge overgrowth

description: Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

description: One sided alveolar cleft of the maxilla.


uncharacterized protein YnaE

A protein that is a translation product of the Escherichia coli K-12 ynaE gene or a 1:1 ortholog thereof.


name: YNAE_ECOLI Uncharacterized protein YnaE (sprot)

description: An uncharacterized protein YnaE that is encoded in the genome of Escherichia coli K-12.


name: myocyte-specific enhancer factor 2B isoform mB-2 (mouse)

description: A myocyte-specific enhancer factor 2B (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O55087-2.


name: EHD1_HUMAN EH domain-containing protein 1 (sprot)

description: An EH domain-containing protein 1 that is encoded in the genome of human.


name: EH domain-containing protein 1 isoform 1 (human)

description: An EH domain-containing protein 1 isoform 1 that is encoded in the genome of human.


name: EH domain-containing protein 1 deaminated 1 (human)

description: An EH domain-containing protein 1 (human) that has been deaminated on the residue at the position equivalent to Gln-81 of the amino acid sequence represented by UniProtKB:Q9H4M9. UniProtKB:Q9H4M9, Gln-81, MOD:00685.


name: FK506-binding protein 15 isoform h1 (human)

description: An FK506-binding protein 15 (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:Q5T1M5-1.


name: leucine-rich glioma-inactivated protein 1 isoform 1

description: A leucine-rich glioma-inactivated protein 1 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:O95970-1 or a 1:1 ortholog thereof.


name: leucine-rich glioma-inactivated protein 1 isoform 1 (human)

description: A leucine-rich glioma-inactivated protein 1 isoform 1 that is encoded in the genome of human.


name: leucine-rich glioma-inactivated protein 1 isoform 1 (mouse)

description: A leucine-rich glioma-inactivated protein 1 isoform 1 that is encoded in the genome of mouse.


name: leucine-rich glioma-inactivated protein 1 isoform 1 (rat)

description: A leucine-rich glioma-inactivated protein 1 isoform 1 that is encoded in the genome of rat.


name: homeotic protein ultrabithorax isoform IIB (fruit fly)

description: A homeotic protein ultrabithorax (fruit fly) 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:P83949-4.


cervical fibroepithelial polyp

description: A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


sterol biosynthesis disorder

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


desmosterolosis

description: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


Greenberg dysplasia

description: A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.


X-linked chondrodysplasia punctata 2

description: A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


X-linked chondrodysplasia punctata

description: X-linked form of chondrodysplasia punctata.


CHILD syndrome

description: CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 1

description: Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.


name: cholesterol biosynthetic process disease

description: A disease that has its basis in the disruption of cholesterol biosynthetic process.


name: hyperimmunoglobulinemia D with periodic fever

description: Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).


name: breast cancer metastasis-suppressor 1-like protein isoform m2 (mouse)

description: A breast cancer metastasis-suppressor 1-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3U1T3-2.


name: BRM1L_MOUSE Breast cancer metastasis-suppressor 1-like protein (sprot)

description: A breast cancer metastasis-suppressor 1-like protein that is encoded in the genome of mouse.


name: breast cancer metastasis-suppressor 1-like protein isoform 1 (mouse)

description: A breast cancer metastasis-suppressor 1-like protein isoform 1 that is encoded in the genome of mouse.


A nucleoside 3',5'-cyclic phosphorothioate having 7-bromo-7-deazaadenine as the nucleobase (the Rp-stereoisomer).


name: SGF73_SCHPO SAGA-associated factor 73 (sprot)

description: A protein that is a translation product of the sgf73 gene in Schizosaccharomyces pombe 972h-.


name: kinesin light chain 1 phosphorylated 2 (human)

description: A kinesin light chain 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-460 of the amino acid sequence represented by UniProtKB:Q07866-1. Example: UniProtKB:Q07866-1, Ser-460, MOD:00046.


name: transformation/transcription domain-associated protein cysteinylated 1 (mouse)

description: A transformation/transcription domain-associated protein (mouse) that has been cysteinylated on the residue at the position equivalent to Cys-866 of the amino acid sequence represented by UniProtKB:Q80YV3. UniProtKB:Q80YV3, Cys-866, MOD:00765.


N-acetyl-L-methionyl-L-valine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-valine.


name: phosphatidylcholine translocator ABCB4 deaminated 1 (mouse)

description: A phosphatidylcholine translocator ABCB4 (mouse) that has been deaminated on the residue at the position equivalent to Gln-822 of the amino acid sequence represented by UniProtKB:P21440. UniProtKB:P21440, Gln-822, MOD:00685.


name: glutamate carboxypeptidase 2 homolog isoform a (worm)

description: A glutamate carboxypeptidase 2 homolog (worm) 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:P91406-1.


name: NB5R1_RAT NADH-cytochrome b5 reductase 1 (sprot)

description: An NADH-cytochrome b5 reductase 1 that is encoded in the genome of rat.


name: mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (human)

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 that is encoded in the genome of human.


name: mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase 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:Q3SY69-1 or a 1:1 ortholog thereof.


name: mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (mouse)

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 that is encoded in the genome of mouse.


name: Recurrent Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted

description: The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.


name: REST_MOUSE RE1-silencing transcription factor (sprot)

description: An RE1-silencing transcription factor that is encoded in the genome of mouse.


RE1-silencing transcription factor

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


name: RE1-silencing transcription factor isoform r3 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-3.


name: RE1-silencing transcription factor isoform h4 (human)

description: An RE1-silencing transcription 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:Q13127-4.


name: RE1-silencing transcription factor isoform m3 (mouse)

description: An RE1-silencing transcription factor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8VIG1-3.


name: RE1-silencing transcription factor deaminated 1 (human)

description: An RE1-silencing transcription factor (human) that has been deaminated on the residue at the position equivalent to Asn-912 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Asn-912, MOD:00684.


name: RE1-silencing transcription factor methylated 1 (human)

description: An RE1-silencing transcription factor (human) that has been methylated on the residue at the position equivalent to Cys-945 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Cys-945, MOD:00660.


name: RE1-silencing transcription factor isoform r5 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-5.


name: RE1-silencing transcription factor isoform r1 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-1.


name: REST_RAT RE1-silencing transcription factor (sprot)

description: An RE1-silencing transcription factor that is encoded in the genome of rat.


name: RE1-silencing transcription factor isoform r6 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-6.


name: RE1-silencing transcription factor isoform h2 (human)

description: An RE1-silencing transcription 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:Q13127-2.


name: RE1-silencing transcription factor isoform h1 (human)

description: An RE1-silencing transcription 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:Q13127-1.


name: REST_DANRE RE1-silencing transcription factor (sprot)

description: An RE1-silencing transcription factor that is encoded in the genome of zebrafish.


name: RE1-silencing transcription factor isoform m2 (mouse)

description: An RE1-silencing transcription factor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8VIG1-2.


name: RE1-silencing transcription factor isoform h3 (human)

description: An RE1-silencing transcription 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:Q13127-3.


name: RE1-silencing transcription factor isoform r4 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-4.


name: RE1-silencing transcription factor isoform r2 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-2.


name: RE1-silencing transcription factor isoform r7 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-7.


name: REST_HUMAN RE1-silencing transcription factor (sprot)

description: An RE1-silencing transcription factor that is encoded in the genome of human.


name: RE1-silencing transcription factor isoform m1 (mouse)

description: An RE1-silencing transcription factor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8VIG1-1.


name: RE1-silencing transcription factor cysteinylated 1 (human)

description: An RE1-silencing transcription factor (human) that has been cysteinylated on the residue at the position equivalent to Cys-945 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Cys-945, MOD:00765.


name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery


name: xeroderma pigmentosum, autosomal dominant, mild


name: ABGT_ECOLI p-aminobenzoyl-glutamate transport protein (sprot)

description: An aminobenzoyl-glutamate transport protein that is encoded in the genome of Escherichia coli K-12.


name: E3 ubiquitin-protein ligase CBL phosphorylated 1 (mouse)

description: An E3 ubiquitin-protein ligase CBL (mouse) that has been phosphorylated on the residue at the position equivalent to Ser-767 of the amino acid sequence represented by UniProtKB:P22682. UniProtKB:P22682, Ser-767, MOD:00046.


name: CBL_MOUSE E3 ubiquitin-protein ligase CBL (sprot)

description: An E3 ubiquitin-protein ligase CBL that is encoded in the genome of mouse.


name: peroxisomal membrane protein 11A isoform 1 (rat)

description: A peroxisomal membrane protein 11A isoform 1 that is encoded in the genome of rat.


name: B3GT5_HUMAN Beta-1,3-galactosyltransferase 5 (sprot)

description: A beta-1,3-galactosyltransferase 5 that is encoded in the genome of human.


name: neuronopathy, distal hereditary motor, type 5A


Anti-ADAMTS13 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).


name: Merkel Cell Carcinoma pM1a TNM Finding v8

description: Merkel cell carcinoma with metastasis to distant skin, distant subcutaneous tissue, or distant lymph node(s), microscopically confirmed. (from AJCC 8th Ed.)


name: T-lymphocyte activation antigen CD86 isoform h6 (human)

description: A T-lymphocyte activation antigen CD86 (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:P42081-6.


name: pleckstrin homology domain-containing family H member 3 isoform h1 (human)

description: A pleckstrin homology domain-containing family H member 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:Q7Z736-1.


name: PKHH3_HUMAN Pleckstrin homology domain-containing family H member 3 (sprot)

description: A pleckstrin homology domain-containing family H member 3 that is encoded in the genome of human.


name: pleckstrin homology domain-containing family H member 3 methylated 1 (human)

description: A pleckstrin homology domain-containing family H member 3 (human) that has been methylated on the residue at the position equivalent to Cys-656 of the amino acid sequence represented by UniProtKB:Q7Z736-1. Example: UniProtKB:Q7Z736-1, Cys-656, MOD:00660.


name: pleckstrin homology domain-containing family H member 3 isoform 3 (human)

description: A pleckstrin homology domain-containing family H member 3 isoform 3 that is encoded in the genome of human.


name: pleckstrin homology domain-containing family H member 3 isoform h4 (human)

description: A pleckstrin homology domain-containing family H member 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:Q7Z736-4.


name: pleckstrin homology domain-containing family H member 3 isoform h2 (human)

description: A pleckstrin homology domain-containing family H member 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:Q7Z736-2.


Pfeiffer syndrome type 3

description: Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.


Pfeiffer syndrome

description: Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


Pfeiffer syndrome type 2

description: Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.


Pfeiffer syndrome type 1

description: Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.


name: METN2_STAA8 Methionine import ATP-binding protein MetN 2 (sprot)

description: A protein that is a translation product of the metN2 gene in Staphylococcus aureus subsp. aureus NCTC 8325.


name: FRAS1_MOUSE Extracellular matrix organizing protein FRAS1 (sprot)

description: An extracellular matrix organizing protein FRAS1 that is encoded in the genome of mouse.


name: zinc finger Ran-binding domain-containing protein 2 isoform 1 (rat)

description: A zinc finger Ran-binding domain-containing protein 2 isoform 1 that is encoded in the genome of rat.


name: ZRAB2_RAT Zinc finger Ran-binding domain-containing protein 2 (sprot)

description: A zinc finger Ran-binding domain-containing protein 2 that is encoded in the genome of rat.


name: enhancer of rudimentary homolog methylated 1 (human)

description: An enhancer of rudimentary homolog (human) that has been methylated on the residue at the position equivalent to Cys-69 of the amino acid sequence represented by UniProtKB:P84090. UniProtKB:P84090, Cys-69, MOD:00660.


phosphatidylethanolamine (P-18:0/20:3)

A phosphatidylethanolamine P-38:3 in which the 1-alkenyl group contains 18 carbons and no additional double bonds while the acyl group contains 20 carbons and 3 double bonds.


name: Grade 4 Colon or Cecum or Appendix Fistula, CTCAE


name: LIM domain transcription factor LMO4 cysteinylated 1 (human)

description: A LIM domain transcription factor LMO4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-64 of the amino acid sequence represented by UniProtKB:P61968. UniProtKB:P61968, Cys-64, MOD:00765.


3p- syndrome

description: Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.


name: partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

description: A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.


name: Ras-like protein family member 10A isoform 1 (mouse)

description: A Ras-like protein family member 10A isoform 1 that is encoded in the genome of mouse.


name: RSLAA_MOUSE Ras-like protein family member 10A (sprot)

description: A Ras-like protein family member 10A that is encoded in the genome of mouse.


Increased lymphocyte apoptosis

description: A elevation in the rate of apoptosis in lymphocytes.


name: Reduced CD95-induced lymphocyte apoptosis

description: Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.


Abnormal lymphocyte apoptosis

description: A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.


Decreased lymphocyte apoptosis

description: A reduction in the rate of apoptosis in lymphocytes.


name: YC01A_YEAST Putative pelota-like protein YCL001W-A (sprot)

description: A protein that is a translation product of the YCL001W-A gene in yeast.


name: F-box only protein 5 phosphorylated form (human)

description: An F-box only protein 5 (human) that includes at least one phosphorylated residue. UniProtKB:Q9UKT4, MOD:00696.


name: single-stranded DNA-binding protein 3 isoform 1 (mouse)

description: A single-stranded DNA-binding protein 3 isoform 1 that is encoded in the genome of mouse.


name: WAP four-disulfide core domain protein 2 isoform h4 (human)

description: A WAP four-disulfide core domain 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:Q14508-4.


name: Small intestinal lymphoplasmacytic infiltrate

description: Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.


Grade 2 Hypomagnesemia, CTCAE

description: <1.2-0.9 mg/dL; <0.5-0.4 mmol/L


PALB2 Gene Mutation Negative

description: A genetic finding indicating that PALB2 gene mutations have not been detected in a sample.


ASK6_ARATH SKP1-like protein 6 (sprot)

A protein that is a translation product of the ASK6(AT3G53060) gene in Arabidopsis thaliana.


name: secreted frizzled-related protein 1 O-glycosylated 2 (human)

description: A secreted frizzled-related protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-175 of the amino acid sequence represented by UniProtKB:Q8N474-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q8N474-1, Thr-175, MOD:00005~GNO:G43417UB.


name: RBMX2_RAT RNA-binding motif protein, X-linked 2 (sprot)

description: An RNA-binding motif protein, X-linked 2 that is encoded in the genome of rat.


name: severe X-linked mitochondrial encephalomyopathy

description: Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.


name: CLCA_DICDI Chloride channel protein A (sprot)

description: A protein that is a translation product of the clcA gene in Dictyostelium discoideum.


name: NADPH:adrenodoxin oxidoreductase, mitochondrial isoform Long (human)

description: An NADPH:adrenodoxin oxidoreductase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22570-2.


exostosis

description: Non-neoplastic overgrowth of bone.


Heberden's node

description: Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.


Multiple exostoses

description: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


name: glucosidase 2 subunit beta O-glycosylated 6 (human)

description: A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-287 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Thr-287, MOD:00005~GNO:G43417UB.


name: CCHA1_DROME Neuropeptide CCHamide-1 (sprot)

description: A protein that is a translation product of the CCHa1 gene in fruit fly.


name: Aortic Juxta-ductal Coarctation Severity

description: The assessment of the severity of juxta-ductal aortic coarctation.


name: bilateral acute depigmentation of the iris

description: Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.


tafazzin isoform h2 (human)

A tafazzin (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:Q16635-2.


name: HLA class I histocompatibility antigen, A alpha chain deaminated 1 (human)

description: An HLA class I histocompatibility antigen, A alpha chain (human) that has been deaminated on the residue at the position equivalent to Gln-21 of the amino acid sequence represented by UniProtKB:P04439-1. Example: UniProtKB:P04439-1, Gln-21, MOD:00685.


name: hypoxia up-regulated protein 1 O-glycosylated 2 (human)

description: A hypoxia up-regulated protein 1 (human) that has been O-glycosylated at the residue equivalent to Ser-634 of the amino acid sequence represented by UniProtKB:Q9Y4L1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y4L1-1, Ser-634, MOD:00002~GNO:G43417UB.


DNLI_BPT4 DNA ligase (sprot)

A protein that is a translation product of the 30 gene in Tequatrovirus T4.


nephrotic syndrome, type 12

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


name: prolyl 3-hydroxylase 3, signal peptide removed form (human)

description: A prolyl 3-hydroxylase 3 (human) that has had the signal peptide removed. Example: UniProtKB:Q8IVL6-1, 21-736.


Childhood Small Intestinal Carcinoma

description: A small intestinal carcinoma occurring in childhood.


name: Childhood Malignant Small Intestinal Neoplasm

description: A rare malignant small intestinal neoplasm that occurs during childhood.


name: Childhood Small Intestinal Leiomyosarcoma

description: A small intestinal leiomyosarcoma occurring in childhood.


Absence of subcutaneous fat

description: Lack of subcutaneous adipose tissue.


name: Loss of truncal subcutaneous adipose tissue

description: Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.


name: NLR family CARD domain-containing protein 3 isoform h1 (human)

description: An NLR family CARD domain-containing 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:Q7RTR2-1.


name: NLRC3_HUMAN NLR family CARD domain-containing protein 3 (sprot)

description: An NLR family CARD domain-containing protein 3 that is encoded in the genome of human.


name: NLR family CARD domain-containing protein 3 isoform h4 (human)

description: An NLR family CARD domain-containing 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:Q7RTR2-4.


name: NLR family CARD domain-containing protein 3 isoform h3 (human)

description: An NLR family CARD domain-containing 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:Q7RTR2-3.


name: NLR family CARD domain-containing protein 3 deaminated 1 (human)

description: An NLR family CARD domain-containing protein 3 (human) that has been deaminated on the residue at the position equivalent to Asn-721 of the amino acid sequence represented by UniProtKB:Q7RTR2-1. Example: UniProtKB:Q7RTR2-1, Asn-721, MOD:00684.


name: NLR family CARD domain-containing protein 3 isoform h2 (human)

description: An NLR family CARD domain-containing 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:Q7RTR2-2.


name: inorganic pyrophosphatase 2, mitochondrial, transit peptide removed form (human)

description: An inorganic pyrophosphatase 2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q9H2U2, 33-334.


SH3G2_HUMAN Endophilin-A1 (sprot)

An endophilin-A1 that is encoded in the genome of human.


endophilin-A1 isoform 1 (human)

An endophilin-A1 isoform 1 that is encoded in the genome of human.


name: solute carrier family 13 member 2 isoform h1 (human)

description: A solute carrier family 13 member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13183-1.


granzyme H

A leukocyte granule-associated proteinase that is a translation product of the human GZMH gene or a 1:1 ortholog thereof.


granzyme H isoform h3 (human)

A granzyme H (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:P20718-3.


granzyme H isoform 1 (human)

A granzyme H isoform 1 that is encoded in the genome of human.


granzyme H isoform 1

A granzyme H 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:P20718-1 or a 1:1 ortholog thereof.


name: granzyme H isoform 1, signal peptide removed form

description: A granzyme H isoform 1 that has had the signal peptide removed.


granzyme H isoform h2 (human)

A granzyme H (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:P20718-2.


GRAH_HUMAN Granzyme H (sprot)

A granzyme H that is encoded in the genome of human.


name: A8WIQ2_DANRE Granzyme 3, tandem duplicate 1 (trembl)

description: A granzyme H that is encoded in the genome of zebrafish.


granzyme H proteolytic cleavage product

A granzyme H that has been processed by proteolytic cleavage.


granzyme H, signal peptide removed form

A granzyme H that has had the signal peptide removed.


name: combined oxidative phosphorylation defect type 9

description: Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.


name: trifunctional purine biosynthetic protein adenosine-3 isoform Short (human)

description: A trifunctional purine biosynthetic protein adenosine-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:P22102-2.


name: zinc finger protein 638 isoform h2 (human)

description: A zinc finger protein 638 (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:Q14966-2.


A 1-acyl-sn-glycero-3-phosphoethanolamine zwitterion obtained by transfer of a proton from the amino to the phosphate group of 1-stearoyl-sn-glycero-3-phosphoethanolamine.


septin-8 isoform h1 (human)

A septin-8 (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:Q92599-1.


name: Rho-related GTP-binding protein RhoU phosphorylated 1 (human)

description: A Rho-related GTP-binding protein RhoU (human) that has been phosphorylated on the residue at the position equivalent to Tyr-254 of the amino acid sequence represented by UniProtKB:Q7L0Q8-1. Example: UniProtKB:Q7L0Q8-1, Tyr-254, MOD:00048.


name: RHOU_HUMAN Rho-related GTP-binding protein RhoU (sprot)

description: A Rho-related GTP-binding protein RhoU that is encoded in the genome of human.


name: Rho-related GTP-binding protein RhoU isoform h1 (human)

description: A Rho-related GTP-binding protein RhoU (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:Q7L0Q8-1.


name: Rho-related GTP-binding protein RhoU isoform h2 (human)

description: A Rho-related GTP-binding protein RhoU (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:Q7L0Q8-2.


name: Hyperinsulinism in the Infant of a Diabetic Mother

description: Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.


A hydroxy fatty-acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of 2-hydroxyheptadecanoic acid


name: probable protein phosphatase 2C 65 isoform 1 (Arabidopsis thaliana)

description: A probable protein phosphatase 2C 65 (Arabidopsis thaliana) 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:Q6NKS1-1.


name: P2C65_ARATH Probable protein phosphatase 2C 65 (sprot)

description: A protein that is a translation product of the At5g01700 gene in Arabidopsis thaliana.


name: probable protein phosphatase 2C 65 isoform 2 (Arabidopsis thaliana)

description: A probable protein phosphatase 2C 65 (Arabidopsis thaliana) 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:Q6NKS1-2.


name: Other Specified Types of Non-Hodgkin Lymphoma, Unspecified Site

description: Evidence of other specified types of non-Hodgkin lymphoma in an unspecified site not specified elsewhere.


A hydroperoxydocosapentaenoic acid that is (8E,10Z,13Z,15E,19Z)-docosapentaenooic acid carrying two hydroperoxy substituents at positions 7 and 17. An intermediate of specialised proresolving mediators.


description: Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


name: leucine-rich repeat-containing protein 31 isoform h1 (human)

description: A leucine-rich repeat-containing protein 31 (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:Q6UY01-1.


(S)-orciprenaline

A 5-[1-hydroxy-2-(isopropanylamino)ethyl]benzene-1,3-diol that is the (S)-enantiomer of orciprenaline.


(R)-orciprenaline

A 5-[1-hydroxy-2-(isopropanylamino)ethyl]benzene-1,3-diol that is the (R)-enantiomer of orciprenaline.


TLE family member 5 isoform 1 (mouse)

A TLE family member 5 isoform 1 that is encoded in the genome of mouse.


IFNL2_HUMAN Interferon lambda-2 (sprot)

An interleukin-28A that is encoded in the genome of human.


name: interferon lambda-2, signal peptide removed form (human)

description: An interferon lambda-2 (human) that has had the signal peptide removed. UniProtKB:Q8IZJ0, 26-200.


name: Q54MM2_DICDI BTB/POZ domain-containing protein (trembl)

description: A BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 that is encoded in the genome of Dictyostelium discoideum.


name: complement factor H N-glycosylated 6 (human)

description: A complement factor H (human) that has been N-glycosylated at the residue equivalent to Asn-1029 of the amino acid sequence represented by UniProtKB:P08603-1, in which the glycan structure is represented by GlyTouCan:G51941GC. Example: UniProtKB:P08603-1, Asn-1029, MOD:00160~GNO:G51941GC.


Complete Hearing Loss

description: Total inability to hear sounds in one or both ears.


name: RNA-binding protein 41 isoform m3 (mouse)

description: An RNA-binding protein 41 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8JZV4-3.


name: RBM41_MOUSE RNA-binding protein 41 (sprot)

description: An RNA-binding protein 41 that is encoded in the genome of mouse.


name: RNA-binding protein 41 isoform 1 (mouse)

description: An RNA-binding protein 41 isoform 1 that is encoded in the genome of mouse.


name: RNA-binding protein 41 isoform m4 (mouse)

description: An RNA-binding protein 41 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8JZV4-4.


name: RNA-binding protein 41 isoform m2 (mouse)

description: An RNA-binding protein 41 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8JZV4-2.


sacsin cysteinylated 1 (human)

A sacsin (human) that has been cysteinylated on the residue at the position equivalent to Cys-3429 of the amino acid sequence represented by UniProtKB:Q9NZJ4-1. Example: UniProtKB:Q9NZJ4-1, Cys-3429, MOD:00765.


name: collagen alpha-1(II) chain cysteinylated 1 (human)

description: A collagen alpha-1(II) chain (human) that has been cysteinylated on the residue at the position equivalent to Cys-1393 of the amino acid sequence represented by UniProtKB:P02458-2. Example: UniProtKB:P02458-2, Cys-1393, MOD:00765.


name: lysophosphatidic acid receptor 1 isoform m2 (mouse)

description: A lysophosphatidic acid receptor 1 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P61793-2.


lysophosphatidic acid receptor 1

A lysophospholipid (LPA) receptor that is a translation product of the human LPAR1 gene or a 1:1 ortholog thereof. It is expressed in many adult organs, including brain, heart, colon, small intestine, placenta, prostate, ovary, pancreas, testis, spleen, skeletal muscle, and kidney. There is little or no expression in liver, lung, thymus, or peripheral blood leukocytes.


name: LPAR1_RAT Lysophosphatidic acid receptor 1 (sprot)

description: A lysophosphatidic acid receptor 1 that is encoded in the genome of rat.


name: lysophosphatidic acid receptor 1 isoform 1

description: A lysophosphatidic acid receptor 1 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:Q92633-1 or a 1:1 ortholog thereof.


name: lysophosphatidic acid receptor 1 isoform 1 (human)

description: A lysophosphatidic acid receptor 1 isoform 1 that is encoded in the genome of human.


name: LPAR1_HUMAN Lysophosphatidic acid receptor 1 (sprot)

description: A lysophosphatidic acid receptor 1 that is encoded in the genome of human.


name: lysophosphatidic acid receptor 1 isoform h2 (human)

description: A lysophosphatidic acid receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92633-2.


name: lysophosphatidic acid receptor 1 isoform 1 (mouse)

description: A lysophosphatidic acid receptor 1 isoform 1 that is encoded in the genome of mouse.


name: LPAR1_MOUSE Lysophosphatidic acid receptor 1 (sprot)

description: A lysophosphatidic acid receptor 1 that is encoded in the genome of mouse.


name: lysophosphatidic acid receptor 1 isoform 1 (rat)

description: A lysophosphatidic acid receptor 1 isoform 1 that is encoded in the genome of rat.


acinar prostate mucinous adenocarcinoma

description: A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.


name: sex determination protein fox-1 isoform b (worm)

description: A sex determination protein fox-1 (worm) 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:Q10572-3.


name: FOX1_CAEEL Sex determination protein fox-1 (sprot)

description: A protein that is a translation product of the fox-1 gene in worm.


name: sex determination protein fox-1 isoform d (worm)

description: A sex determination protein fox-1 (worm) 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:Q10572-1.


name: sex determination protein fox-1 isoform a (worm)

description: A sex determination protein fox-1 (worm) 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:Q10572-2.


name: PHLA2_HUMAN Pleckstrin homology-like domain family A member 2 (sprot)

description: A pleckstrin homology-like domain family A member 2 that is encoded in the genome of human.


name: cAMP-dependent protein kinase inhibitor alpha isoform 1 (chicken)

description: A cAMP-dependent protein kinase inhibitor alpha isoform 1 that is encoded in the genome of chicken.


name: PHM6_YEAST Phosphate metabolism protein 6 (sprot)

description: A protein that is a translation product of the PHM6 gene in yeast.


name: Grade 5 Ureter Stricture or Stenosis, CTCAE


name: cation-independent mannose-6-phosphate receptor deaminated 4 (human)

description: A cation-independent mannose-6-phosphate receptor (human) that has been deaminated on the residue at the position equivalent to Gln-777 of the amino acid sequence represented by UniProtKB:P11717. UniProtKB:P11717, Gln-777, MOD:00685.


name: DnaJ homolog subfamily B member 11 isoform 1 (mouse)

description: A DnaJ homolog subfamily B member 11 isoform 1 that is encoded in the genome of mouse.


name: PALM2-AKAP2 fusion protein cysteinylated 1 (human)

description: A PALM2-AKAP2 fusion protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-436 of the amino acid sequence represented by UniProtKB:Q9Y2D5-4. Example: UniProtKB:Q9Y2D5-4, Cys-436, MOD:00765.


malignant struma ovarii

description: An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).


teratoma with malignant transformation

description: A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.


name: nuclear pore complex protein Nup107 deaminated 1 (human)

description: A nuclear pore complex protein Nup107 (human) that has been deaminated on the residue at the position equivalent to Gln-870 of the amino acid sequence represented by UniProtKB:P57740-1. Example: UniProtKB:P57740-1, Gln-870, MOD:00685.


CAMOS syndrome

description: CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.


name: Increased proportion of exhausted T cells

description: An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.


3-carboxy-cis,cis-muconic acid

The 3-carboxy derivative of cis,cis-muconic acid.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 methylated 1 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (human) that has been methylated on the residue at the position equivalent to Phe-115 of the amino acid sequence represented by UniProtKB:O95298-1. Example: UniProtKB:O95298-1, Phe-115, MOD:00717.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2

description: A protein that is a translation product of the human NDUFC2 gene or a 1:1 ortholog thereof.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-1.


name: Q9VQM2_DROME NADH dehydrogenase [ubiquinone] 1 subunit C2 (trembl)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 that is encoded in the genome of fruit fly.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 5 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-3.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 4 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-2.


name: Q6Q122_CHICK NADH dehydrogenase [ubiquinone] 1 subunit C2 (trembl)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 that is encoded in the genome of chicken.


name: NDUC2_HUMAN NADH dehydrogenase [ubiquinone] 1 subunit C2 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 that is encoded in the genome of human.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 (rat)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 that is encoded in the genome of rat.


name: NDUC2_MOUSE NADH dehydrogenase [ubiquinone] 1 subunit C2 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 that is encoded in the genome of mouse.


name: Q9BL33_CAEEL NADH dehydrogenase [ubiquinone] 1 subunit C2 (trembl)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 that is encoded in the genome of worm.


sebaceous basal cell carcinoma

description: A basal cell carcinoma of the skin that is characterized by sebaceous differentiation.


name: DNA-directed RNA polymerase subunit beta isoform 1 unmodified form

description: A DNA-directed RNA polymerase subunit beta isoform 1 that has not been subjected to any co- or post-translational residue modification or peptide bond cleavage.


name: DNA-directed RNA polymerase subunit beta

description: A protein that is a translation product of the Escherichia coli K-12 rpoB gene or a 1:1 ortholog thereof.


name: RPOB_CLOD6 DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Peptoclostridium difficile 630.


name: RPOB_BRUSU DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Brucella suis 1330.


name: RPOB_BRUSI DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Brucella suis ATCC 23445.


name: RPOB_ARATH DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Arabidopsis thaliana.


name: RPOB_ECOLI DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Escherichia coli K-12.


name: DNA-directed RNA polymerase subunit beta isoform 1

description: A DNA-directed RNA polymerase subunit beta 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:P0A8V2-1 or a 1:1 ortholog thereof.


name: DNA-directed RNA polymerase subunit beta isoform 1 (Escherichia coli K-12)

description: A DNA-directed RNA polymerase subunit beta isoform 1 that is encoded in the genome of Escherichia coli K-12.


name: RPOB_THET8 DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Thermus thermophilus HB8.


name: RPOB_CLOBH DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Clostridium botulinum A str. Hall.


name: RPOB_BRUO2 DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Brucella ovis ATCC 25840.


name: RPOB_BRUAB DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Brucella abortus bv. 1 str. 9-941.


name: DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 (Escherichia coli K-12)

description: A DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 in Escherichia coli K-12. UniProtKB:P0A8V2-1, Lys-1022/Lys-1200, MOD:00064.


name: RPOB_BRUA2 DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Brucella abortus 2308.


name: RPOB_BRUC2 DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Brucella canis ATCC 23365.


name: DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1

description: A DNA-directed RNA polymerase subunit beta isoform 1 that has been post-translationally modified to include N6-acetyllysine residues. Example: UniProtKB:P0A8V2-1, Lys-1022/Lys-1200, MOD:00064.


name: RPOB_BRUMB DNA-directed RNA polymerase subunit beta (sprot)

description: A DNA-directed RNA polymerase subunit beta that is encoded in the genome of Brucella melitensis ATCC 23457.


name: DNA-directed RNA polymerase II subunit RPB7 cysteinylated 2 (human)

description: A DNA-directed RNA polymerase II subunit RPB7 (human) that has been cysteinylated on the residue at the position equivalent to Cys-106 of the amino acid sequence represented by UniProtKB:P62487. UniProtKB:P62487, Cys-106, MOD:00765.


name: homeobox and leucine zipper protein Homez

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


name: homeobox and leucine zipper protein Homez isoform h1 (human)

description: A homeobox and leucine zipper protein Homez (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:Q8IX15-1.


name: homeobox and leucine zipper protein Homez isoform r2 (rat)

description: A homeobox and leucine zipper protein Homez (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K3E9-2.


name: homeobox and leucine zipper protein Homez isoform m1 (mouse)

description: A homeobox and leucine zipper protein Homez (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q80W88-1.


name: HOMEZ_MOUSE Homeobox and leucine zipper protein Homez (sprot)

description: A homeobox and leucine zipper protein Homez that is encoded in the genome of mouse.


name: HOMEZ_RAT Homeobox and leucine zipper protein Homez (sprot)

description: A homeobox and leucine zipper protein Homez that is encoded in the genome of rat.


name: homeobox and leucine zipper protein Homez isoform r1 (rat)

description: A homeobox and leucine zipper protein Homez (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8K3E9-1.


name: HOMEZ_HUMAN Homeobox and leucine zipper protein Homez (sprot)

description: A homeobox and leucine zipper protein Homez that is encoded in the genome of human.


name: homeobox and leucine zipper protein Homez isoform m2 (mouse)

description: A homeobox and leucine zipper protein Homez (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q80W88-2.


name: homeobox and leucine zipper protein Homez isoform h2 (human)

description: A homeobox and leucine zipper protein Homez (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:Q8IX15-3.


name: DNA topoisomerase 2 isoform 1 (Arabidopsis thaliana)

description: A DNA topoisomerase 2 (Arabidopsis thaliana) 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:P30182-1.


TOP2_ARATH DNA topoisomerase 2 (sprot)

A DNA topoisomerase 2-beta that is encoded in the genome of Arabidopsis thaliana.


enterotoxemia

description: Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.


name: DJC15_MOUSE DnaJ homolog subfamily C member 15 (sprot)

description: A DnaJ homolog subfamily C member 15 that is encoded in the genome of mouse.


DnaJ homolog subfamily C member 15

A protein that is a translation product of the human DNAJC15 gene or a 1:1 ortholog thereof.


name: DJC15_HUMAN DnaJ homolog subfamily C member 15 (sprot)

description: A DnaJ homolog subfamily C member 15 that is encoded in the genome of human.


name: TIM14_SCHPO Mitochondrial import inner membrane translocase subunit tim14 (sprot)

description: A DnaJ homolog subfamily C member 15 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


serine protease 44 isoform m1 (mouse)

A serine protease 44 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q402U7-1.


name: G protein-coupled receptor kinase 6 isoform 1

description: A G protein-coupled receptor kinase 6 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:P43250-1 or a 1:1 ortholog thereof.


name: G protein-coupled receptor kinase 6 isoform GRK6A (human)

description: A G protein-coupled receptor kinase 6 isoform 1 that is encoded in the genome of human.


name: G protein-coupled receptor kinase 6 isoform GRK6A (mouse)

description: A G protein-coupled receptor kinase 6 isoform 1 that is encoded in the genome of mouse.


name: U-box domain-containing protein 32 isoform 1 (Arabidopsis thaliana)

description: A U-box domain-containing protein 32 (Arabidopsis thaliana) 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:Q94A51-1.


DCTN6_DICDI Dynactin subunit 6 (sprot)

A dynactin subunit 6 that is encoded in the genome of Dictyostelium discoideum.


name: fractalkine isoform 1, signal peptide removed form

description: A fractalkine isoform 1 that has had the signal peptide removed.


fractalkine isoform 1

A fractalkine 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:Q9Z0D9-1 or a 1:1 ortholog thereof.


name: CX3C chemokine receptor 1 isoform 1 (mouse)

description: A fractalkine isoform 1 that is encoded in the genome of mouse.