name: MOGT3_HUMAN 2-acylglycerol O-acyltransferase 3 (sprot)

description: A 2-acylglycerol O-acyltransferase 3 that is encoded in the genome of human.


name: YTDC2_HUMAN 3'-5' RNA helicase YTHDC2 (sprot)

description: A 3'-5' RNA helicase YTHDC2 that is encoded in the genome of human.


autoimmune polyendocrinopathy

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

description: A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.


name: EGFL8_HUMAN Epidermal growth factor-like protein 8 (sprot)

description: An epidermal growth factor-like protein 8 that is encoded in the genome of human.


A member of the class of phenols that is phenol which is para-substituted with a nonyl group.


name: ADA23_HUMAN Disintegrin and metalloproteinase domain-containing protein 23 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 23 that is encoded in the genome of human.


portal hypertension

description: Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.


orphenadrine

A tertiary amino compound which is the phenyl-o-tolylmethyl ether of 2-(dimethylamino)ethanol.


name: CCL28_HUMAN C-C motif chemokine 28 (sprot)

description: A C-C motif chemokine 28 that is encoded in the genome of human.


name: HAND1_HUMAN Heart- and neural crest derivatives-expressed protein 1 (sprot)

description: A heart- and neural crest derivatives-expressed protein 1 that is encoded in the genome of human.


ITPI2_HUMAN Protein ITPRID2 (sprot)

A protein ITPRID2 that is encoded in the genome of human.


name: HXD13_HUMAN Homeobox protein Hox-D13 (sprot)

description: A homeobox protein Hox-D13 that is encoded in the genome of human.


name: PLVAP_HUMAN Plasmalemma vesicle-associated protein (sprot)

description: A plasmalemma vesicle-associated protein that is encoded in the genome of human.


thymus lymphoma

description: A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.


urea cycle disorder

description: A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.


name: CINP_HUMAN Cyclin-dependent kinase 2-interacting protein (sprot)

description: A cyclin-dependent kinase 2-interacting protein that is encoded in the genome of human.


name: TAF1C_HUMAN TATA box-binding protein-associated factor RNA polymerase I subunit C (sprot)

description: A TATA box-binding protein-associated factor RNA polymerase I subunit C that is encoded in the genome of human.


trans-urocanic acid

A urocanic acid in which the double bond of the carboxyethene moiety has E configuration.


azosemide

A sulfonamide that is benzenesulfonamide which is substituted at positions 2, 4, and 5 by chlorine, (2-thienylmethyl)amino and 1H-tetrazol-5-yl groups, respectively. It is a diuretic that has been used in the management of oedema and hypertension.


name: ASH1L_HUMAN Histone-lysine N-methyltransferase ASH1L (sprot)

description: A histone-lysine N-methyltransferase ASH1L that is encoded in the genome of human.


ANXA7_HUMAN Annexin A7 (sprot)

An annexin A7 that is encoded in the genome of human.


name: CEP41_HUMAN Centrosomal protein of 41 kDa (sprot)

description: A centrosomal protein of 41 kDa that is encoded in the genome of human.


name: FRMD5_HUMAN FERM domain-containing protein 5 (sprot)

description: A FERM domain-containing protein 5 that is encoded in the genome of human.


mezlocillin

A penicillin in which the substituent at position 6 of the penam ring is a (2R)-2-[3-(methanesulfonyl)-2-oxoimidazolidine-1-carboxamido]-2-phenylacetamido group.


SCG1_HUMAN Secretogranin-1 (sprot)

A secretogranin-1 that is encoded in the genome of human.


name: FSHR_HUMAN Follicle-stimulating hormone receptor (sprot)

description: A follitropin receptor that is encoded in the genome of human.


name: DDX20_HUMAN Probable ATP-dependent RNA helicase DDX20 (sprot)

description: A probable ATP-dependent RNA helicase DDX20 that is encoded in the genome of human.


SYCY2_HUMAN Syncytin-2 (sprot)

A syncytin-2 that is encoded in the genome of human.


name: ID1_HUMAN DNA-binding protein inhibitor ID-1 (sprot)

description: A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human.


name: LCLT1_HUMAN Lysocardiolipin acyltransferase 1 (sprot)

description: A lysocardiolipin acyltransferase 1 that is encoded in the genome of human.


name: ADX_HUMAN Adrenodoxin, mitochondrial (sprot)

description: An adrenodoxin, mitochondrial that is encoded in the genome of human.


babesiosis

description: Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.


name: AKA10_HUMAN A-kinase anchor protein 10, mitochondrial (sprot)

description: An A-kinase anchor protein 10, mitochondrial that is encoded in the genome of human.


tongue neoplasm

description: A neoplasm (disease) that involves the tongue.


double outlet right ventricle

description: Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.


poliovirus infection

description: An disease or disorder caused by infection with Enterovirus C.


LANC2_HUMAN LanC-like protein 2 (sprot)

A LanC-like protein 2 that is encoded in the genome of human.


name: intellectual disability-sparse hair-brachydactyly syndrome

description: Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.


name: SIGL9_HUMAN Sialic acid-binding Ig-like lectin 9 (sprot)

description: A sialic acid-binding Ig-like lectin 9 that is encoded in the genome of human.


name: GPR4_HUMAN G-protein coupled receptor 4 (sprot)

description: A G-protein coupled receptor 4 that is encoded in the genome of human.


focal dystonia

description: A dystonia that is localized to a specific part of the body.


LEPTOMYCIN B

A leptomycin having a (2E,10E,12E,16Z,18E)-double bond configuration as well as an ethyl substituent at position 17.


name: isolated congenital growth hormone deficiency

description: Insufficient production of growth hormone.


name: APC7_HUMAN Anaphase-promoting complex subunit 7 (sprot)

description: An anaphase-promoting complex subunit 7 that is encoded in the genome of human.


4-pyridoxic acid

A methylpyridine that is 2-methylpyridine substituted by a hydroxy group at C-3, a carboxy group at C-4, and a hydroxymethyl group at C-5. It is the catabolic product of vitamin B6 and is excreted in the urine.


name: CDK15_HUMAN Cyclin-dependent kinase 15 (sprot)

description: A cyclin-dependent kinase 15 that is encoded in the genome of human.


name: S39AE_HUMAN Metal cation symporter ZIP14 (sprot)

description: A metal cation symporter ZIP14 that is encoded in the genome of human.


name: MOT6_HUMAN Monocarboxylate transporter 6 (sprot)

description: A monocarboxylate transporter 6 that is encoded in the genome of human.


name: SC5A8_HUMAN Sodium-coupled monocarboxylate transporter 1 (sprot)

description: A sodium-coupled monocarboxylate transporter 1 that is encoded in the genome of human.


name: MYO15_HUMAN Unconventional myosin-XV (sprot)

description: A myosin-XV that is encoded in the genome of human.


name: REN3A_HUMAN Regulator of nonsense transcripts 3A (sprot)

description: A regulator of nonsense transcripts 3A that is encoded in the genome of human.


name: COX19_HUMAN Cytochrome c oxidase assembly protein COX19 (sprot)

description: A cytochrome c oxidase assembly protein COX19 that is encoded in the genome of human.


name: COXM2_HUMAN COX assembly mitochondrial protein 2 homolog (sprot)

description: A COX assembly mitochondrial protein 2 homolog that is encoded in the genome of human.


pericarditis

description: An inflammatory process affecting the pericardium.


name: CLK4_HUMAN Dual specificity protein kinase CLK4 (sprot)

description: A dual specificity protein kinase CLK4 that is encoded in the genome of human.


right atrial isomerism

description: A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


name: NTF2_HUMAN Nuclear transport factor 2 (sprot)

description: A nuclear transport factor 2 that is encoded in the genome of human.


name: SIVA_HUMAN Apoptosis regulatory protein Siva (sprot)

description: An apoptosis regulatory protein Siva that is encoded in the genome of human.


ESPL1_HUMAN Separin (sprot)

A separin that is encoded in the genome of human.


lymphadenitis

description: Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.


name: AGRL2_HUMAN Adhesion G protein-coupled receptor L2 (sprot)

description: An adhesion G protein-coupled receptor L2 that is encoded in the genome of human.


tacrine

A member of the class of acridines that is 1,2,3,4-tetrahydroacridine substituted by an amino group at position 9. It is used in the treatment of Alzheimer's disease.


name: ZN423_HUMAN Zinc finger protein 423 (sprot)

description: A zinc finger protein 423 that is encoded in the genome of human.


phosphatidylethanolamine (18:0/22:5)

A phosphatidylethanolamine in which one acyl group has 18 carbons and is fully saturated while the other has 22 carbons and 5 double bonds.


name: LRFN4_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 4 (sprot)

description: A leucine-rich repeat and fibronectin type-III domain-containing protein 4 that is encoded in the genome of human.


name: MTND_HUMAN Acireductone dioxygenase (sprot)

description: An acireductone dioxygenase that is encoded in the genome of human.


name: SH21B_HUMAN SH2 domain-containing protein 1B (sprot)

description: An SH2 domain-containing protein 1B that is encoded in the genome of human.


name: AGAP3_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 (sprot)

description: An Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 that is encoded in the genome of human.


name: ARMX1_HUMAN Armadillo repeat-containing X-linked protein 1 (sprot)

description: An armadillo repeat-containing X-linked protein 1 that is encoded in the genome of human.


AMOT_HUMAN Angiomotin (sprot)

An angiomotin that is encoded in the genome of human.


SANGIVAMYCIN

A nucleoside analogue that is adenosine in which the nitrogen at position 7 is replaced by a carbamoyl-substituted carbon. It is a potent inhibitor of protein kinase C.


Hyperesthesia

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

description: Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.


name: VSX2_HUMAN Visual system homeobox 2 (sprot)

description: A visual system homeobox 2 that is encoded in the genome of human.


name: GLCI1_HUMAN Glucocorticoid-induced transcript 1 protein (sprot)

description: A glucocorticoid-induced transcript 1 protein that is encoded in the genome of human.


phenoxyacetic acid

A monocarboxylic acid that is the O-phenyl derivative of glycolic acid. A metabolite of 2-phenoxyethanol, it is used in the manufacture of pharmaceuticals, pesticides, fungicides and dyes.


breast fibroadenoma

description: A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.


D105A_HUMAN Beta-defensin 105 (sprot)

A beta-defensin 105 that is encoded in the genome of human.


METHYLSELENOCYSTEINE

An L-alpha-amino acid compound having methylselanylmethyl as the side-chain.


name: COFA1_HUMAN Collagen alpha-1(XV) chain (sprot)

description: A collagen alpha-1(XV) chain that is encoded in the genome of human.


AOXA_HUMAN Aldehyde oxidase (sprot)

An aldehyde oxidase that is encoded in the genome of human.


bipolar II disorder

description: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.


ACAA

An amidobenzoic acid that is anthranilic acid in which one of the anilino hydrogens is replaced by a 4-pentylcinnamoyl group. It is a transient receptor potential (TRP) channel blocker and phospholipase A2 (PLA2) inhibitor.


name: C8AP2_HUMAN CASP8-associated protein 2 (sprot)

description: A CASP8-associated protein 2 that is encoded in the genome of human.


phenazone

A  pyrazolone derivative that is 1,2-dihydropyrazol-3-one substituted with methyl groups at N-1 and C-5 and with a phenyl group at N-2.


facial neuralgia

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


Truncal obesity

description: Obesity located preferentially in the trunk of the body as opposed to the extremities.


A hydroxy fatty acid anion that is the conjugate base of 3-hydroxybutyric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.


retinal vascular occlusion

description: An occlusion of the retinal vasculature.


HMCN1_HUMAN Hemicentin-1 (sprot)

A hemicentin-1 that is encoded in the genome of human.


streptococcal infection

description: Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.


paromomycin sulfate

An aminoglycoside sulfate salt resulting from the treatment of paromomycin with sulfuric acid. A broad-spectrum antibiotic, it is used for the treatment of acute and chronic intestinal protozoal infections, but is not effective for extraintestinal protozoal infections. It is also used as a therapeutic against visceral leishmaniasis.


name: TM158_HUMAN Transmembrane protein 158 (sprot)

description: A transmembrane protein 158 that is encoded in the genome of human.


talarozole

A member of the class of benzothiazoles that is 2-amino-1,3-benzothiazole in which one of the amino hydrogens is replaced by a 4-[2-ethyl-1-(1H-1,2,4-triazol-1-yl)butyl]phenyl group.


NUP35_HUMAN Nucleoporin NUP35 (sprot)

A nucleoporin NUP35 that is encoded in the genome of human.


name: DPYL4_HUMAN Dihydropyrimidinase-related protein 4 (sprot)

description: A dihydropyrimidinase-related protein 4 that is encoded in the genome of human.


name: CETP_HUMAN Cholesteryl ester transfer protein (sprot)

description: A cholesteryl ester transfer protein that is encoded in the genome of human.


SYUB_HUMAN Beta-synuclein (sprot)

A beta-synuclein that is encoded in the genome of human.


name: DMRT3_HUMAN Doublesex- and mab-3-related transcription factor 3 (sprot)

description: A doublesex- and mab-3-related transcription factor 3 that is encoded in the genome of human.


name: DMTA2_HUMAN Doublesex- and mab-3-related transcription factor A2 (sprot)

description: A doublesex- and mab-3-related transcription factor A2 that is encoded in the genome of human.


descending colon cancer

description: A malignant neoplasm involving the descending colon.


DYST_HUMAN Dystonin (sprot)

A dystonin that is encoded in the genome of human.


PLEC_HUMAN Plectin (sprot)

A plectin-1 that is encoded in the genome of human.


TAGL2_HUMAN Transgelin-2 (sprot)

A transgelin-2 that is encoded in the genome of human.


RIC3_HUMAN Protein RIC-3 (sprot)

A protein RIC-3 that is encoded in the genome of human.


PYRITHIONE

A  pyridinethione that is pyridine-2(1H)-thione in which the hydrogen attached to the nitrogen is replaced by a hydroxy group. It is a Zn(2+) ionophore; the zinc salt is used as an antifungal and antibacterial agent.


name: TNKS2_HUMAN Poly [ADP-ribose] polymerase tankyrase-2 (sprot)

description: A poly [ADP-ribose] polymerase tankyrase-2 that is encoded in the genome of human.


name: CUX2_HUMAN Homeobox protein cut-like 2 (sprot)

description: A homeobox protein cut-like 2 that is encoded in the genome of human.


alkaptonuria

description: A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


Ketosis

description: Presence of elevated levels of ketone bodies in the body.


cetrimonium

A quaternary ammonium ion in which the substituents on nitrogen are one hexadecyl and three methyl groups.


PHOSPHOCHOLINE

The phosphate of choline; and the parent compound of the phosphocholine family.


transient neonatal diabetes mellitus

description: Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.


phosphatidylethanolamine (P-18:0/22:4)

A phosphatidylethanolamine P-40:4 in which the 1-alkenyl group contains 18 carbons and no additional double bonds while the acyl group contains 22 carbons and 4 double bonds.


Li-Fraumeni syndrome

description: A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).


3-METHYLBUTANOIC ACID

A C5, branched-chain saturated fatty acid.


name: PPDPF_HUMAN Pancreatic progenitor cell differentiation and proliferation factor (sprot)

description: An exocrine differentiation and proliferation factor that is encoded in the genome of human.


name: GHC2_HUMAN Mitochondrial glutamate carrier 2 (sprot)

description: A mitochondrial glutamate carrier 2 that is encoded in the genome of human.


name: SYGP1_HUMAN Ras/Rap GTPase-activating protein SynGAP (sprot)

description: A Ras/Rap GTPase-activating protein SynGAP that is encoded in the genome of human.


IPO8_HUMAN Importin-8 (sprot)

An importin-8 that is encoded in the genome of human.


name: SGPL1_HUMAN Sphingosine-1-phosphate lyase 1 (sprot)

description: A sphingosine-1-phosphate lyase 1 that is encoded in the genome of human.


FZD9_HUMAN Frizzled-9 (sprot)

A frizzled-9 that is encoded in the genome of human.


FZD6_HUMAN Frizzled-6 (sprot)

A frizzled-6 that is encoded in the genome of human.


name: CNOT3_HUMAN CCR4-NOT transcription complex subunit 3 (sprot)

description: A CCR4-NOT transcription complex subunit 3 that is encoded in the genome of human.


name: CALL3_HUMAN Calmodulin-like protein 3 (sprot)

description: A calmodulin-like protein 3 that is encoded in the genome of human.


name: ELP2_HUMAN Elongator complex protein 2 (sprot)

description: An elongator complex protein 2 that is encoded in the genome of human.


name: ADA28_HUMAN Disintegrin and metalloproteinase domain-containing protein 28 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 28 that is encoded in the genome of human.


name: P5CR2_HUMAN Pyrroline-5-carboxylate reductase 2 (sprot)

description: A pyrroline-5-carboxylate reductase 2 that is encoded in the genome of human.


name: AGT2_HUMAN Alanine--glyoxylate aminotransferase 2, mitochondrial (sprot)

description: An alanine--glyoxylate aminotransferase 2, mitochondrial that is encoded in the genome of human.


name: LYPD6_HUMAN Ly6/PLAUR domain-containing protein 6 (sprot)

description: An Ly6/PLAUR domain-containing protein 6 that is encoded in the genome of human.


name: NMD3B_HUMAN Glutamate receptor ionotropic, NMDA 3B (sprot)

description: A glutamate receptor ionotropic, NMDA 3B that is encoded in the genome of human.


name: CREM_HUMAN cAMP-responsive element modulator (sprot)

description: A cAMP-responsive element modulator that is encoded in the genome of human.


name: GDF3_HUMAN Growth/differentiation factor 3 (sprot)

description: A growth/differentiation factor 3 that is encoded in the genome of human.


macrophage activation syndrome

description: A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.


bifonazole

A racemate comprising equimolar amounts of R- and S-bifonazole. It is a broad spectrum antifungal drug used for the treatment of fungal skin and nail infections.


name: KCD15_HUMAN BTB/POZ domain-containing protein KCTD15 (sprot)

description: A BTB/POZ domain-containing protein KCTD15 that is encoded in the genome of human.


Macroscopic hematuria

description: Hematuria that is visible upon inspection of the urine.


oral submucous fibrosis

description: Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.


name: RHXF1_HUMAN Rhox homeobox family member 1 (sprot)

description: A rhox homeobox family member 1 that is encoded in the genome of human.


name: ZDHC3_HUMAN Palmitoyltransferase ZDHHC3 (sprot)

description: A palmitoyltransferase ZDHHC3 that is encoded in the genome of human.


name: GLRA1_HUMAN Glycine receptor subunit alpha-1 (sprot)

description: A glycine receptor subunit alpha-1 that is encoded in the genome of human.


ITAE_HUMAN Integrin alpha-E (sprot)

An integrin alpha-E that is encoded in the genome of human.


hypothalamic dysfunction

description: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.


name: ZC3HF_HUMAN Zinc finger CCCH domain-containing protein 15 (sprot)

description: A zinc finger CCCH domain-containing protein 15 that is encoded in the genome of human.


phosphatidylcholine (15:0/18:3)

A phosphatidylcholine 33:2 in which the fatty acyl groups at positions 1 and 2 are specified as C15:0 and C18:3 respectively.


mast cell leukemia

description: Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.


ANTROQUINONOL

An enone that is cyclohex-2-en-1-one substituted by a hydroxy group at position 4, methoxy groups at positions 2 and 3, a methyl group at position 6 and a (2E,6E)-3,7,11-trimethyldodeca-2,6,10-trien-1-yl group at position 5 (the 4R,5R,6R stereoisomer). It is isolated from the solid-state fermented mycelium of the fungus Antrodia camphorata and has been found to exhibit potent cytotoxicity against a number of human cancer cell lines. However, a synthesis-enabled biological re-examination published in 2016, revealed minimal in vitro and in vivo antitumour activity in preclinical models.


Alport syndrome

description: A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.


epidermolytic ichthyosis

description: A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


neurotrophic keratopathy

description: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.


SEPT8_HUMAN Septin-8 (sprot)

A septin-8 that is encoded in the genome of human.


name: UB2J1_HUMAN Ubiquitin-conjugating enzyme E2 J1 (sprot)

description: A ubiquitin-conjugating enzyme E2 J1 that is encoded in the genome of human.


dehydroascorbic acid

Dehydroascorbic acid having the L-configuration.


N-formyl-L-methionine

A L-methionine derivative in which one of the hydrogens attached to the nitrogen is replaced by a formyl group.


An adenosine bisphosphate having two monophosphate groups at the 3'- and 5'-positions.


name: BPNT1_HUMAN 3'(2'),5'-bisphosphate nucleotidase 1 (sprot)

description: A 3'(2'),5'-bisphosphate nucleotidase 1 that is encoded in the genome of human.


Plasmodium malariae malaria

description: Malaria resulting from infection by Plasmodium malariae.


description: A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.


CLD15_HUMAN Claudin-15 (sprot)

A claudin-15 that is encoded in the genome of human.


dihydrotachysterol

A hydroxy seco-steroid that is 9,10-secoergosta-5,7,22-triene substituted by a hydroxy group at position 3. A synthetic analogue of vitamin D that acts a bone density conservation agent.


Subcapsular cataract

description: A cataract that affects the region of the lens directly beneath the capsule of the lens.


name: LCE1A_HUMAN Late cornified envelope protein 1A (sprot)

description: A late cornified envelope protein 1A that is encoded in the genome of human.


myxoid/round cell liposarcoma

description: Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.


name: COSA1_HUMAN Collagen alpha-1(XXVIII) chain (sprot)

description: A collagen alpha-1(XXVIII) chain that is encoded in the genome of human.


name: NDUB5_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial that is encoded in the genome of human.


Stormorken syndrome

description: Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.


name: GRAP2_HUMAN GRB2-related adapter protein 2 (sprot)

description: A GRB2-related adapter protein 2 that is encoded in the genome of human.


name: MID51_HUMAN Mitochondrial dynamics protein MIEF1 (sprot)

description: A mitochondrial dynamics protein MID51 that is encoded in the genome of human.


PIPERONYLIC ACID

A member of the class of benzodioxoles that is 1,3-benzodioxole substituted by a carboxy group at position 5. It is a natural product isolated from several plant species. It is a selective mechanism-based inactivator of the trans-cinnamate 4-hydroxylase enzyme and exhibits antifungal and skin wound healing properties.


VANG2_HUMAN Vang-like protein 2 (sprot)

A Vang-like protein 2 that is encoded in the genome of human.


phosphatidylcholine (P-36:2)

A 1-O-(alk-1-enyl)-2-O-acyl-sn-glycero-3-phosphocholine in which the unspecified alk-1-enyl and acyl groups at positions 1 and 2 contain 36 carbon atoms in total with 2 additional double bonds in the acyl moiety.


name: WIPF1_HUMAN WAS/WASL-interacting protein family member 1 (sprot)

description: A WAS/WASL-interacting protein family member 1 that is encoded in the genome of human.


name: GNAI1_HUMAN Guanine nucleotide-binding protein G(i) subunit alpha-1 (sprot)

description: A guanine nucleotide-binding protein G(i) subunit alpha-1 that is encoded in the genome of human.


name: CD79A_HUMAN B-cell antigen receptor complex-associated protein alpha chain (sprot)

description: A B-cell antigen receptor complex-associated protein alpha chain that is encoded in the genome of human.


name: lamina-associated polypeptide 2 isoform alpha (human)

description: A lamina-associated polypeptide 2 isoform alpha that is encoded in the genome of human.


name: CTL2_HUMAN Choline transporter-like protein 2 (sprot)

description: A choline transporter-like protein 2 that is encoded in the genome of human.


phosphatidylcholine (16:0/22:6)

A phosphatidylcholine 38:6 in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C22:6 respectively.


name: RGS10_HUMAN Regulator of G-protein signaling 10 (sprot)

description: A regulator of G-protein signaling 10 that is encoded in the genome of human.


name: RGS20_HUMAN Regulator of G-protein signaling 20 (sprot)

description: A regulator of G-protein signaling 20 that is encoded in the genome of human.


Biventricular hypertrophy

description: Thickening of the heart walls in both ventricles.


viomycin

A cyclic peptide antibiotic produced by the actinomycete Streptomyces puniceus, used in the treatment of tuberculosis.


prilocaine

An  amino acid amide in which N-propyl-DL-alanine and 2-methylaniline have combined to form the amide bond; used as a local anaesthetic.


DEQUALINIUM CHLORIDE

An organic chloride salt that is the dichloride salt of dequalinium.


name: APT_HUMAN Adenine phosphoribosyltransferase (sprot)

description: An adenine phosphoribosyltransferase that is encoded in the genome of human.


name: RGRF2_HUMAN Ras-specific guanine nucleotide-releasing factor 2 (sprot)

description: A Ras-specific guanine nucleotide-releasing factor 2 that is encoded in the genome of human.


EFNB1_HUMAN Ephrin-B1 (sprot)

An ephrin-B1 that is encoded in the genome of human.


autoimmune cholangitis

description: An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.


name: ARF3_HUMAN ADP-ribosylation factor 3 (sprot)

description: An ADP-ribosylation factor 3 that is encoded in the genome of human.


name: TIGIT_HUMAN T-cell immunoreceptor with Ig and ITIM domains (sprot)

description: A T cell immunoreceptor with Ig and ITIM domains that is encoded in the genome of human.


parathyroid gland disorder

description: A disease involving the parathyroid gland.


lupus erythematosus panniculitis

description: A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.


name: PAF1_HUMAN RNA polymerase II-associated factor 1 homolog (sprot)

description: An RNA polymerase II-associated factor 1 that is encoded in the genome of human.


ACONITIC ACID

The trans-isomer of aconitic acid.


valpromide

A fatty amide derived from valproic acid.


melamine

A trimer of cyanamide, with a 1,3,5-triazine skeleton.


nephrolithiasis

description: The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.


name: ABI3_HUMAN ABI gene family member 3 (sprot)

description: An ABI gene family member 3 that is encoded in the genome of human.


A dicarboxylic acid dianion obtained by the deprotonation of both the carboxy groups of adipic acid.


name: CPZIP_HUMAN CapZ-interacting protein (sprot)

description: A Capz-interacting protein that is encoded in the genome of human.


ombitasvir

A dipeptide derivative which is used which is in combination with dasabuvir sodium hydrate, paritaprevir and ritonavir (under the trade name Viekira Pak) for treatment of chronic hepatitis C virus genotype 1 infection as well as cirrhosis of the liver.


spinocerebellar ataxia type 1

description: Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.


anus neoplasm

description: A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.


CATL2_HUMAN Cathepsin L2 (sprot)

A cathepsin L2 that is encoded in the genome of human.


name: SPC24_HUMAN Kinetochore protein Spc24 (sprot)

description: A kinetochore protein Spc24 that is encoded in the genome of human.


name: AFG2A_HUMAN ATPase family gene 2 protein homolog A (sprot)

description: An ATPase family gene 2 protein homolog A that is encoded in the genome of human.


A nitrosamine that is iminodiacetone that is substituted by a nitroso group at the N-atom. It induces pancreatic ductal adenocarcinomas in Syrian golden hamsters (other rodents are not susceptible).


Dent disease

description: Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.


name: GPHA2_HUMAN Glycoprotein hormone alpha-2 (sprot)

description: A glycoprotein hormone alpha-2 that is encoded in the genome of human.


name: DRD4_HUMAN D(4) dopamine receptor (sprot)

description: A D(4) dopamine receptor that is encoded in the genome of human.


name: HYOU1_HUMAN Hypoxia up-regulated protein 1 (sprot)

description: A hypoxia up-regulated protein 1 that is encoded in the genome of human.


name: medium chain acyl-CoA dehydrogenase deficiency

description: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.


laryngeal squamous cell carcinoma

description: A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.


name: I17RD_HUMAN Interleukin-17 receptor D (sprot)

description: An interleukin-17 receptor D that is encoded in the genome of human.


carcinosarcoma

description: A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.


phosphatidylethanolamine (16:1/20:4)

A phosphatidylethanolamine in which one acyl group has 16 carbons and 1 double bond while the other has 20 carbons and 4 double bonds.


name: PSB6_HUMAN Proteasome subunit beta type-6 (sprot)

description: A proteasome subunit beta type-6 that is encoded in the genome of human.


name: PD2R_HUMAN Prostaglandin D2 receptor (sprot)

description: A prostaglandin D2 receptor that is encoded in the genome of human.


TAMSULOSIN HYDROCHLORIDE

A hydrochloride resulting from the reaction of equimolar amounts of tamulosin and hydrogen chloride.


name: KCMB2_HUMAN Calcium-activated potassium channel subunit beta-2 (sprot)

description: A calcium-activated potassium channel subunit beta-2 that is encoded in the genome of human.


name: IF5_HUMAN Eukaryotic translation initiation factor 5 (sprot)

description: A eukaryotic translation initiation factor 5 that is encoded in the genome of human.


DIGITOXIGENIN

A 5beta-cardenolide that is 5beta-cardanolide with hydroxy substituents at the 3beta- and 14beta-positions and double bond unsaturation at C(20)-C(22).


Klinefelter syndrome

description: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.


retroperitoneal neuroblastoma

description: A neuroblastoma that involves the retroperitoneal space.


name: SYCM_HUMAN Probable cysteine--tRNA ligase, mitochondrial (sprot)

description: A probable cysteine--tRNA ligase, mitochondrial that is encoded in the genome of human.


name: THAP9_HUMAN DNA transposase THAP9 (sprot)

description: A DNA transposase THAP9 that is encoded in the genome of human.


name: PGBD5_HUMAN PiggyBac transposable element-derived protein 5 (sprot)

description: A piggyBac transposable element-derived protein 5 that is encoded in the genome of human.


trilostane

An epoxy steroid that is 3,17beta-dihydroxy-5alpha-androst-2-ene-2-carbonitrile in which the oxygen of the epoxy group is joined to the 4alpha and 5 alpha positions.


name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency


difloxacin

A quinolone that is pefloxacin in which the ethyl group at position 1 of the quinolone has been replaced by a p-fluorophenyl group. A broad-spectrum antibiotic effective against both Gram-positive and Gram-negative bacteria, it is used (usually as the monohydrochloride salt) for the treatment of bacterial infections in dogs.


name: DOPD_HUMAN D-dopachrome decarboxylase (sprot)

description: A D-dopachrome decarboxylase that is encoded in the genome of human.


Richter syndrome

description: Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.


basidiobolomycosis

description: A disease caused by infection with Basidiobolus.


deanol

A  tertiary amine that is ethanolamine having two N-methyl substituents.


phosphatidylethanolamine (16:1/18:0)

A phosphatidylethanolamine 34:1 in which the acyl group at C-1 contains 16 carbons and 1 double bond while that at C-2 contains 18 carbons and no double bonds.


name: MPC2_HUMAN Mitochondrial pyruvate carrier 2 (sprot)

description: A brain protein 44 that is encoded in the genome of human.


SCTR_HUMAN Secretin receptor (sprot)

A secretin receptor that is encoded in the genome of human.


name: AF1L1_HUMAN Actin filament-associated protein 1-like 1 (sprot)

description: An actin filament-associated protein 1-like 1 that is encoded in the genome of human.


name: ASH2L_HUMAN Set1/Ash2 histone methyltransferase complex subunit ASH2 (sprot)

description: A Set1/Ash2 histone methyltransferase complex subunit ASH2 that is encoded in the genome of human.


name: SL9A2_HUMAN Sodium/hydrogen exchanger 2 (sprot)

description: A sodium/hydrogen exchanger 2 that is encoded in the genome of human.


name: SYDE1_HUMAN Rho GTPase-activating protein SYDE1 (sprot)

description: A Rho GTPase-activating protein SYDE1 that is encoded in the genome of human.


name: SRTD1_HUMAN SERTA domain-containing protein 1 (sprot)

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


name: PWP1_HUMAN Periodic tryptophan protein 1 homolog (sprot)

description: A periodic tryptophan protein 1 that is encoded in the genome of human.


androgen insensitivity syndrome

description: Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).


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.


name: NF2L3_HUMAN Nuclear factor erythroid 2-related factor 3 (sprot)

description: A nuclear factor erythroid 2-related factor 3 that is encoded in the genome of human.


name: SCN2A_HUMAN Sodium channel protein type 2 subunit alpha (sprot)

description: A sodium channel protein type 2 subunit alpha that is encoded in the genome of human.


name: KCA10_HUMAN Potassium voltage-gated channel subfamily A member 10 (sprot)

description: A voltage-gated potassium channel subunit KCNA10 that is encoded in the genome of human.


AATF_HUMAN Protein AATF (sprot)

A protein AATF that is encoded in the genome of human.


name: K22E_HUMAN Keratin, type II cytoskeletal 2 epidermal (sprot)

description: A keratin, type II cytoskeletal 2 epidermal that is encoded in the genome of human.


name: HRH2_HUMAN Histamine H2 receptor (sprot)

description: A histamine H2 receptor that is encoded in the genome of human.


name: DNSL3_HUMAN Deoxyribonuclease gamma (sprot)

description: A deoxyribonuclease gamma that is encoded in the genome of human.


name: UBIA1_HUMAN UbiA prenyltransferase domain-containing protein 1 (sprot)

description: A UbiA prenyltransferase domain-containing protein 1 that is encoded in the genome of human.


cetrimide

The organic bromide salt that is the bromide salt of cetyltrimethylammonium; one of the components of the topical antiseptic cetrimide.


name: SPOP_HUMAN Speckle-type POZ protein (sprot)

description: A speckle-type POZ protein that is encoded in the genome of human.


name: SARDH_HUMAN Sarcosine dehydrogenase, mitochondrial (sprot)

description: A sarcosine dehydrogenase, mitochondrial that is encoded in the genome of human.


name: GRIA3_HUMAN Glutamate receptor 3 (sprot)

description: A glutamate receptor 3 that is encoded in the genome of human.


Pyle disease

description: A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.


ropivacaine

The piperidinecarboxamide obtained by the formal condensation of N-propylpipecolic acid and 2,6-dimethylaniline.


periarthritis

description: Inflammation of the tissues around a joint. (Dorland, 27th ed)


name: BOP1_HUMAN Ribosome biogenesis protein BOP1 (sprot)

description: A ribosome biogenesis protein BOP1 that is encoded in the genome of human.


phosphatidylcholine (19:1/18:2)

A phosphatidylcholine 37:3 in which the fatty acyl groups at positions 1 and 2 are specified as C19:1 and C18:2 respectively


name: SIA4A_HUMAN CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 (sprot)

description: A CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 that is encoded in the genome of human.


name: PO4F3_HUMAN POU domain, class 4, transcription factor 3 (sprot)

description: A POU domain, class 4, transcription factor 3 that is encoded in the genome of human.


MTL5_HUMAN Tesmin (sprot)

A tesmin that is encoded in the genome of human.


name: EHD3_HUMAN EH domain-containing protein 3 (sprot)

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


name: GP101_HUMAN Probable G-protein coupled receptor 101 (sprot)

description: A probable G-protein coupled receptor 101 that is encoded in the genome of human.


phosphatidylcholine (16:0/20:4)

A phosphatidylcholine 36:4 in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C20:4 respectively.


name: CHSTB_HUMAN Carbohydrate sulfotransferase 11 (sprot)

description: A carbohydrate sulfotransferase 11 that is encoded in the genome of human.


AHNK2_HUMAN Protein AHNAK2 (sprot)

A protein AHNAK2 that is encoded in the genome of human.


MELITTIN

A 26-membered polypeptide consisting of Gly, Ile, Gly, Ala, Val, Leu, Lys, Val, Leu, Thr, Thr, Gly, Leu, Pro, Ala, Leu, Ile, Ser, Trp, Ile, Lys, Arg, Lys, Arg, Gln and Gln-NH2 residues joined in sequence. It is the principal active component of bee venom.


name: ESCO1_HUMAN N-acetyltransferase ESCO1 (sprot)

description: An N-acetyltransferase ESCO1 that is encoded in the genome of human.


Abnormality of neuronal migration

description: An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.


name: G6PI_HUMAN Glucose-6-phosphate isomerase (sprot)

description: A glucose-6-phosphate isomerase that is encoded in the genome of human.


Neonatal hypoglycemia

description: Blood glucose concentration below the lower limit of established reference ranges in a newborn.


RUBIDIUM CHLORIDE

An inorganic chloride composed of rubidium and chloride ions in a 1:1 ratio.


name: KI13A_HUMAN Kinesin-like protein KIF13A (sprot)

description: A kinesin-like protein KIF13A that is encoded in the genome of human.


PEPC_HUMAN Gastricsin (sprot)

A gastricsin that is encoded in the genome of human.


name: RHD_HUMAN Blood group Rh(D) polypeptide (sprot)

description: A blood group Rh(D) polypeptide that is encoded in the genome of human.


name: HSPB9_HUMAN Heat shock protein beta-9 (sprot)

description: A heat shock protein beta-9 that is encoded in the genome of human.


name: ERD21_HUMAN ER lumen protein-retaining receptor 1 (sprot)

description: An ER lumen protein-retaining receptor 1 that is encoded in the genome of human.


congenital toxoplasmosis

description: Toxoplasma infection that is present from birth.


name: RN125_HUMAN E3 ubiquitin-protein ligase RNF125 (sprot)

description: An E3 ubiquitin-protein ligase RNF125 that is encoded in the genome of human.


name: EME1_HUMAN Crossover junction endonuclease EME1 (sprot)

description: A crossover junction endonuclease EME1 that is encoded in the genome of human.


name: GEN_HUMAN Flap endonuclease GEN homolog 1 (sprot)

description: A flap endonuclease GEN homolog 1 that is encoded in the genome of human.


name: ZMYM1_HUMAN Zinc finger MYM-type protein 1 (sprot)

description: A zinc finger MYM-type protein 1 that is encoded in the genome of human.


eszopiclone

The (5S)- (active) enantiomer of zopiclone. Unlike almost all other hypnotic sedatives, which are approved only for the relief of short-term (6-8 weeks) insomnia, eszopiclone is approved by the U.S. Food and Drug Administration for long-term use.


Retinal atrophy

description: Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.


DOK3_HUMAN Docking protein 3 (sprot)

A docking protein 3 that is encoded in the genome of human.


phosphatidylcholine (18:1/22:1)

A phosphatidylcholine 40:2 in which the fatty acyl groups at positions 1 and 2 are specified as C18:1 and C22:1 respectively.


Unverricht-Lundborg syndrome

description: Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.


verruciform xanthoma of skin

description: A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


Bloom syndrome

description: Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.


phosphatidylethanolamine (18:1/18:2)

1,2-diacyl-sn-glycero-3-phosphoethanolamine in which the acyl group at C-1 contains 18 carbons and 1 double bond while that at C-2 contains 18 carbons and 2 double bonds.


Hypoglycemic coma

description: Coma induced by low blood sugar.


name: KCNKF_HUMAN Potassium channel subfamily K member 15 (sprot)

description: A potassium channel subfamily K member 15 that is encoded in the genome of human.


FRIL_HUMAN Ferritin light chain (sprot)

A ferritin light chain that is encoded in the genome of human.


name: CHSS1_HUMAN Chondroitin sulfate synthase 1 (sprot)

description: A chondroitin sulfate synthase 1 that is encoded in the genome of human.


Cytomegalovirus colitis

description: A form of cytomegalovirus infection characterized by infection and inflammation of the colon.


CADH7_HUMAN Cadherin-7 (sprot)

A cadherin-7 that is encoded in the genome of human.


flupentixol

A flupenthixol in which the double bond adopts a cis-configuration.


name: EVA1A_HUMAN Protein eva-1 homolog A (sprot)

description: A protein eva-1 homolog A that is encoded in the genome of human.


sinusitis

description: An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.


name: CLMP_HUMAN CXADR-like membrane protein (sprot)

description: An adipocyte adhesion molecule that is encoded in the genome of human.


name: STML3_HUMAN Stomatin-like protein 3 (sprot)

description: A stomatin-like protein 3 that is encoded in the genome of human.


name: BDH_HUMAN D-beta-hydroxybutyrate dehydrogenase, mitochondrial (sprot)

description: A D-beta-hydroxybutyrate dehydrogenase, mitochondrial that is encoded in the genome of human.


name: CFA45_HUMAN Cilia- and flagella-associated protein 45 (sprot)

description: A cilia- and flagella-associated protein 45 that is encoded in the genome of human.


name: VP33B_HUMAN Vacuolar protein sorting-associated protein 33B (sprot)

description: A vacuolar protein sorting-associated protein 33B that is encoded in the genome of human.


name: CYLD_HUMAN Ubiquitin carboxyl-terminal hydrolase CYLD (sprot)

description: A ubiquitin carboxyl-terminal hydrolase CYLD that is encoded in the genome of human.


phosphatidylethanolamine (P-16:0/18:2)

A phosphatidylethanolamine P-34:2 in which the 1-alkenyl group contains 16 carbons and no additional double bonds while the acyl group contains 18 carbons and 2 double bonds.


cycloguanil

A triazine in which a 1,6-dihydro-1,3,5-triazine ring is substituted at N-1 by a 4-chlorophenyl group, at C-2 and -4 by amino groups and at C-6 by gem-dimethyl groups. A dihydrofolate reductase inhibitor, it is a metabolite of the antimalarial drug proguanil.


PCD16_HUMAN Protocadherin-16 (sprot)

A protocadherin-16 that is encoded in the genome of human.


Gorham-Stout disease

description: Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.


name: CSHL_HUMAN Chorionic somatomammotropin hormone-like 1 (sprot)

description: A chorionic somatomammotropin hormone-like 1 that is encoded in the genome of human.


name: CX7A1_HUMAN Cytochrome c oxidase subunit 7A1, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 7A1, mitochondrial that is encoded in the genome of human.


name: ZPI_HUMAN Protein Z-dependent protease inhibitor (sprot)

description: A protein Z-dependent protease inhibitor that is encoded in the genome of human.


bromfenac

Amfenac in which the the hydrogen at the 4 position of the benzoyl group is substituted by bromine. It is used for the management of ocular pain and treatment of postoperative inflammation in patients who have undergone cataract extraction. It was withdrawn from the US market in 1998, following concerns over off-label abuse and hepatic failure.


name: NOVA1_HUMAN RNA-binding protein Nova-1 (sprot)

description: An RNA-binding protein Nova-1 that is encoded in the genome of human.


name: PROD_HUMAN Proline dehydrogenase 1, mitochondrial (sprot)

description: A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human.


name: NPT1_HUMAN Sodium-dependent phosphate transport protein 1 (sprot)

description: A sodium-dependent phosphate transport protein 1 that is encoded in the genome of human.


SH3G2_HUMAN Endophilin-A1 (sprot)

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


name: VAMP1_HUMAN Vesicle-associated membrane protein 1 (sprot)

description: A vesicle-associated membrane protein 1 that is encoded in the genome of human.


aleutian mink disease

description: A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.


name: FKB1B_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP1B (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP1B that is encoded in the genome of human.


name: GPSM3_HUMAN G-protein-signaling modulator 3 (sprot)

description: A G-protein-signaling modulator 3 that is encoded in the genome of human.


name: P3IP1_HUMAN Phosphoinositide-3-kinase-interacting protein 1 (sprot)

description: A phosphoinositide-3-kinase-interacting protein 1 that is encoded in the genome of human.


olivopontocerebellar atrophy

description: A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.


TERPINOLENE

A p-menthadiene with double bonds at positions 1 and 4(8).


name: epithelioid inflammatory myofibroblastic sarcoma


name: EIF3F_HUMAN Eukaryotic translation initiation factor 3 subunit F (sprot)

description: A eukaryotic translation initiation factor 3 subunit F that is encoded in the genome of human.


name: GGA2_HUMAN ADP-ribosylation factor-binding protein GGA2 (sprot)

description: An ADP-ribosylation factor-binding protein GGA2 that is encoded in the genome of human.


name: DECR_HUMAN 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial (sprot)

description: A 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial that is encoded in the genome of human.


melagatran

A member of the class of azetidines that is (2S)-azetidine 2-carboxylic acid in which the carboxylic acid has been converted to the amide corresponding to formal condensation with 4-(aminomethyl)benzenecarboximidamide and in which the hydrogen attached to the azetidine nitrogen is replaced by a (2R)-2-cyclohexyl-2-[(carboxymethyl)amino]acetyl group.


CADH4_HUMAN Cadherin-4 (sprot)

A cadherin-4 that is encoded in the genome of human.


zolmitriptan

A member of the class of tryptamines that is N,N-dimethyltryptamine in which the hydrogen at position 5 of the indole ring has been replaced by a [(4S)-2-oxo-1,3-oxazolidin-4-yl]methyl group. A serotonin 5-HT1 B and D receptor agonist, it is used for the treatment of migraine.


endometrial disorder

description: A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


name: MFAP2_HUMAN Microfibrillar-associated protein 2 (sprot)

description: A microfibrillar-associated protein 2 that is encoded in the genome of human.


name: NEK9_HUMAN Serine/threonine-protein kinase Nek9 (sprot)

description: A serine/threonine-protein kinase Nek9 that is encoded in the genome of human.


TELT_HUMAN Telethonin (sprot)

A telethonin that is encoded in the genome of human.


name: KCNJ6_HUMAN G protein-activated inward rectifier potassium channel 2 (sprot)

description: A G protein-activated inward rectifier potassium channel 2 that is encoded in the genome of human.


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).


myofascial pain syndrome

description: Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.


juvenile myoclonic epilepsy

description: Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


PCD20_HUMAN Protocadherin-20 (sprot)

A protocadherin-20 that is encoded in the genome of human.


piperaquine

An aminoquinoline that is 1,3-di(piperazin-1-yl)propane in which the nitrogen at position 4 of each of the piperazine moieties is replaced by a 7-chloroquinolin-4-yl group.


tetralin

An ortho-fused bicyclic hydrocarbon that is 1,2,3,4-tetrahydro derivative of naphthalene.


F131B_HUMAN Protein FAM131B (sprot)

A protein FAM131B that is encoded in the genome of human.


name: SI1L1_HUMAN Signal-induced proliferation-associated 1-like protein 1 (sprot)

description: A signal-induced proliferation-associated 1-like protein 1 that is encoded in the genome of human.


name: APC11_HUMAN Anaphase-promoting complex subunit 11 (sprot)

description: An anaphase-promoting complex subunit 11 that is encoded in the genome of human.


name: oligoarticular juvenile idiopathic arthritis

description: Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.


name: CENPF_HUMAN Centromere protein F (sprot)

description: A centromere protein F that is encoded in the genome of human.


name: DEGS1_HUMAN Sphingolipid delta(4)-desaturase DES1 (sprot)

description: A sphingolipid Delta(4)-desaturase DES1 that is encoded in the genome of human.


TENS2_HUMAN Tensin-2 (sprot)

A tensin-2 that is encoded in the genome of human.


hand, foot and mouth disease

description: A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.


name: UBP10_HUMAN Ubiquitin carboxyl-terminal hydrolase 10 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 10 that is encoded in the genome of human.


name: 2A5A_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform (sprot)

description: A serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform that is encoded in the genome of human.


Expressive aphasia

description: Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.


name: ALKB8_HUMAN Alkylated DNA repair protein alkB homolog 8 (sprot)

description: An alkylated DNA repair protein alkB homolog 8 that is encoded in the genome of human.


name: TIM23_HUMAN Mitochondrial import inner membrane translocase subunit Tim23 (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim23 that is encoded in the genome of human.


name: OXR1_HUMAN Oxidation resistance protein 1 (sprot)

description: An oxidation resistance protein 1 that is encoded in the genome of human.


Macroorchidism

description: The presence of abnormally large testes.


name: PDZ11_HUMAN PDZ domain-containing protein 11 (sprot)

description: A PDZ domain-containing protein 11 that is encoded in the genome of human.


name: KTDAP_HUMAN Keratinocyte differentiation-associated protein (sprot)

description: A keratinocyte differentiation-associated protein that is encoded in the genome of human.


eye neoplasm

description: A neoplasm (disease) that involves the eye.


name: CELF1_HUMAN CUGBP Elav-like family member 1 (sprot)

description: A CUGBP Elav-like family member 1 that is encoded in the genome of human.


ectopic Cushing syndrome

description: Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.


name: MIER3_HUMAN Mesoderm induction early response protein 3 (sprot)

description: A mesoderm induction early response protein 3 that is encoded in the genome of human.


name: NU5M_HUMAN NADH-ubiquinone oxidoreductase chain 5 (sprot)

description: An NADH-ubiquinone oxidoreductase chain 5 that is encoded in the genome of human.


neonatal anemia

description: The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.


name: FADD_HUMAN FAS-associated death domain protein (sprot)

description: A FAS-associated death domain protein that is encoded in the genome of human.


name: CO5A1_HUMAN Collagen alpha-1(V) chain (sprot)

description: A collagen alpha-1(V) chain that is encoded in the genome of human.


pseudomyxoma peritonei

description: Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.


name: LT4R2_HUMAN Leukotriene B4 receptor 2 (sprot)

description: A leukotriene B4 receptor 2 that is encoded in the genome of human.


name: NUFP2_HUMAN FMR1-interacting protein NUFIP2 (sprot)

description: An FMR1-interacting protein NUFIP2 that is encoded in the genome of human.


CBPE_HUMAN Carboxypeptidase E (sprot)

A carboxypeptidase E that is encoded in the genome of human.


DNLI3_HUMAN DNA ligase 3 (sprot)

A DNA ligase 3 that is encoded in the genome of human.


invasive aspergillosis

description: An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.


name: ARFRP_HUMAN ADP-ribosylation factor-related protein 1 (sprot)

description: An ADP-ribosylation factor-related protein 1 that is encoded in the genome of human.


name: GOGA4_HUMAN Golgin subfamily A member 4 (sprot)

description: A golgin subfamily A member 4 that is encoded in the genome of human.


triptolidenol

A tetracyclic diterpenoid that is isolated from Tripterygium wilfordii and exhibits anti-inflammatory properties.


mucopolysaccharidosis type 6

description: Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.


name: LAMA3_HUMAN Laminin subunit alpha-3 (sprot)

description: A laminin subunit alpha-3 that is encoded in the genome of human.


name: SCD5_HUMAN Stearoyl-CoA desaturase 5 (sprot)

description: A stearoyl-CoA desaturase 5 that is encoded in the genome of human.


lonazolac

A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is replaced by a 3-(4-chlorophenyl)-1-phenylpyrazol-4-yl group.


cefpodoxime

A third-generation cephalosporin antibiotic with methoxymethyl and (2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetamino substituents at positions 3 and 7, respectively, of the cephem skeleton. Given by mouth as its proxetil ester prodrug, it is used to treat acute otitis media, pharyngitis, and sinusitis.


name: IGLC2_HUMAN Immunoglobulin lambda constant 2 (sprot)

description: A protein that is a translation product of the IGLC2 gene in human.


neonatal myasthenia gravis

description: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)


name: ANGL7_HUMAN Angiopoietin-related protein 7 (sprot)

description: An angiopoietin-related protein 7 that is encoded in the genome of human.


liver hemangioma

description: A hemangioma arising from the liver.


name: FUT1_HUMAN Galactoside alpha-(1,2)-fucosyltransferase 1 (sprot)

description: A galactoside alpha-(1,2)-fucosyltransferase 1 that is encoded in the genome of human.


An alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase that is encoded in the genome of human.


name: SH2B1_HUMAN SH2B adapter protein 1 (sprot)

description: An SH2B adapter protein 1 that is encoded in the genome of human.


name: NDUB9_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 that is encoded in the genome of human.


name: ARHG9_HUMAN Rho guanine nucleotide exchange factor 9 (sprot)

description: A Rho guanine nucleotide exchange factor 9 that is encoded in the genome of human.


pipemidic acid

A pyridopyrimidine that is 5-oxo-5,8-dihydropyrido[2,3-d]pyrimidine-6-carboxylic acid substituted at position 2 by a piperazin-1-yl group and at position 8 by an ethyl group. A synthetic broad-spectrum antibacterial, it is used for treatment of gastrointestinal, biliary, and urinary infections.


carcinoma of urethra

description: A carcinoma that involves the urethra.


nitrendipine

A  dihydropyridine that is 1,4-dihydropyridine substituted by methyl groups at positions 2 and 6, a 3-nitrophenyl group at position 4, a ethoxycarbonyl group at position 3 and a methoxycarbonyl group at position 5. It is a calcium-channel blocker used in the treatment of hypertension.


opiate dependence

description: Disorders related or resulting from abuse or mis-use of opioids.


name: TBC8B_HUMAN TBC1 domain family member 8B (sprot)

description: A TBC1 domain family member 8B that is encoded in the genome of human.


name: PLCD3_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 (sprot)

description: A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 that is encoded in the genome of human.


name: WBP2_HUMAN WW domain-binding protein 2 (sprot)

description: A WW domain-binding protein 2 that is encoded in the genome of human.


name: ARNT2_HUMAN Aryl hydrocarbon receptor nuclear translocator 2 (sprot)

description: An aryl hydrocarbon receptor nuclear translocator 2 that is encoded in the genome of human.


name: HLAE_HUMAN HLA class I histocompatibility antigen, alpha chain E (sprot)

description: An MHC class I histocompatibility antigen, alpha chain E that is encoded in the genome of human.


CNTN5_HUMAN Contactin-5 (sprot)

A contactin-5 that is encoded in the genome of human.


name: PRS51_HUMAN Serine protease-like protein 51 (sprot)

description: A protein that is a translation product of the PRSS51 gene in human.


hereditary amyloidosis

description: Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.


arteriovenous hemangioma/malformation

description: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.


hereditary cerebellar ataxia

description: Cerebellar ataxia that is transmitted from parent to child.


fertaric acid

A cinnamate ester obtained by formal condensation of the carboxy group of ferulic acid with one of the hydroxy groups of tartaric acid.


renal tubular acidosis

description: A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.


name: familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

description: An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone.


name: TSNAX_HUMAN Translin-associated protein X (sprot)

description: A translin-associated protein X that is encoded in the genome of human.


gabapentin enacarbil

A carbamate ester that is the N-[1-(isobutyryloxy)ethoxy]carbonyl derivative of [1-(aminomethyl)cyclohexyl]acetic acid. The prodrug for gabapentin, used for treatment of neuropathic pain and restless legs syndrome.


osteoarthritis, hip

description: Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.


name: MESP1_HUMAN Mesoderm posterior protein 1 (sprot)

description: A mesoderm posterior protein 1 that is encoded in the genome of human.


isolated sulfite oxidase deficiency

description: Abnormally reduced sulfite oxidase level.


name: SC31A_HUMAN Protein transport protein Sec31A (sprot)

description: A protein transport protein Sec31A that is encoded in the genome of human.


name: GT2D1_HUMAN General transcription factor II-I repeat domain-containing protein 1 (sprot)

description: A general transcription factor II-I repeat domain-containing protein 1 that is encoded in the genome of human.


name: HLX_HUMAN H2.0-like homeobox protein (sprot)

description: An H2.0-like homeobox protein that is encoded in the genome of human.


name: TMM74_HUMAN Transmembrane protein 74 (sprot)

description: A transmembrane protein 74 that is encoded in the genome of human.


name: CENPA_HUMAN Histone H3-like centromeric protein A (sprot)

description: A histone H3-like centromeric protein A that is encoded in the genome of human.


UREA C-13

A (13)C-modified compound that is urea in which the carbon is present as its (13)C isotope.


BANP_HUMAN Protein BANP (sprot)

A protein BANP that is encoded in the genome of human.


D-lysine

The D-enantiomer of the alpha-amino acid lysine.


name: PYGM_HUMAN Glycogen phosphorylase, muscle form (sprot)

description: A glycogen phosphorylase, muscle form that is encoded in the genome of human.


combined immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


T-cell prolymphocytic leukemia

description: A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.


name: autoimmune polyendocrine syndrome type 1

description: Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.


renal artery disease

description: A disease involving the renal artery.


N-bromosuccinimide

A five-membered cyclic dicarboximide compound having a bromo substituent on the nitrogen atom.


name: TRI41_HUMAN E3 ubiquitin-protein ligase TRIM41 (sprot)

description: An E3 ubiquitin-protein ligase TRIM41 that is encoded in the genome of human.


name: ZSC21_HUMAN Zinc finger and SCAN domain-containing protein 21 (sprot)

description: A zinc finger and SCAN domain-containing protein 21 that is encoded in the genome of human.


name: SPZ1_HUMAN Spermatogenic leucine zipper protein 1 (sprot)

description: A spermatogenic leucine zipper protein 1 that is encoded in the genome of human.


name: CXXC4_HUMAN CXXC-type zinc finger protein 4 (sprot)

description: A CXXC-type zinc finger protein 4 that is encoded in the genome of human.


name: juvenile idiopathic inflammatory myopathy


THYMIDINE MONOPHOSPHATE

The neutral species of thymidine 5'-monophosphate (2'-deoxythymidine 5'-monophosphate).


iopamidol

A benzenedicarboxamide compound having N-substituted carbamoyl groups at the 1- and 3-positions, iodo substituents at the 2-, 4- and 6-positions and a (2S)-2-hydroxypropanamido group at the 5-position.


name: CE104_HUMAN Centrosomal protein of 104 kDa (sprot)

description: A centrosomal protein of 104 kDa that is encoded in the genome of human.


adinazolam

A triazolo[4,3-a][1,4]benzodiazepine having a dimethylaminomethyl group at the 1-position, a phenyl group at the 6-position and a chloro substituent at the 8-position.


NAPHTHALENE

An aromatic hydrocarbon comprising two fused benzene rings. It occurs in the essential oils of numerous plant species e.g. magnolia.


choline deficiency disease

description: A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)


small intestine adenocarcinoma

description: An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.


Paroxysmal atrial tachycardia

description: A disorder characterized by an electrocardiographic finding of episodic atrial tachycardia with abrupt onset and termination.


adrenal gland cancer

description: A malignant neoplasm involving the adrenal gland


name: RANB9_HUMAN Ran-binding protein 9 (sprot)

description: A Ran-binding protein 9 that is encoded in the genome of human.


ACRO_HUMAN Acrosin (sprot)

An acrosin that is encoded in the genome of human.


name: TBCD1_HUMAN TBC1 domain family member 1 (sprot)

description: A TBC1 domain family member 1 that is encoded in the genome of human.


name: ITGBL_HUMAN Integrin beta-like protein 1 (sprot)

description: An integrin beta-like protein 1 that is encoded in the genome of human.


name: KC1D_HUMAN Casein kinase I isoform delta (sprot)

description: A casein kinase I isoform delta that is encoded in the genome of human.


name: COHA1_HUMAN Collagen alpha-1(XVII) chain (sprot)

description: A collagen alpha-1(XVII) chain that is encoded in the genome of human.


azelaic acid

An alpha,omega-dicarboxylic acid that is heptane substituted at positions 1 and 7 by carboxy groups.


name: NP1L4_HUMAN Nucleosome assembly protein 1-like 4 (sprot)

description: A nucleosome assembly protein 1-like 4 that is encoded in the genome of human.


hepatocellular adenoma

description: A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.


name: MAPK3_HUMAN MAP kinase-activated protein kinase 3 (sprot)

description: A MAP kinase-activated protein kinase 3 that is encoded in the genome of human.


name: FKBPL_HUMAN FK506-binding protein-like (sprot)

description: An FK506-binding protein-like that is encoded in the genome of human.


Intercostal muscle weakness

description: Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.


name: MED8_HUMAN Mediator of RNA polymerase II transcription subunit 8 (sprot)

description: A mediator of RNA polymerase II transcription subunit 8 that is encoded in the genome of human.


ractopamine

A diastereoisomeric mixture of approximately equal amounts of all four possible diastereoisomers of 4-(1-hydroxy-2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)phenol. A beta-adrenergic agonist, it is used (generally as the hydrochloride salt) as a feed additive for use in pigs and other livestock to promote protein deposition, resulting in leaner meat. The R,R diastereoisomer, butopamine, is responsible for most of the leanness-enhancing effects. While use of ractopamine has been banned in over 120 countries including throughout the EU, in the US it used in an estimated 80% of all beef, pork and turkey production.


name: ARI2_HUMAN E3 ubiquitin-protein ligase ARIH2 (sprot)

description: An E3 ubiquitin-protein ligase ARIH2 that is encoded in the genome of human.


name: MAGE1_HUMAN Melanoma-associated antigen E1 (sprot)

description: A melanoma-associated antigen E1 that is encoded in the genome of human.


macrocystic lymphatic malformation

description: A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces.


Abnormal cerebellum morphology

description: Any structural abnormality of the cerebellum.


name: ARF4_HUMAN ADP-ribosylation factor 4 (sprot)

description: An ADP-ribosylation factor 4 that is encoded in the genome of human.


name: KCJ14_HUMAN ATP-sensitive inward rectifier potassium channel 14 (sprot)

description: An ATP-sensitive inward rectifier potassium channel 14 that is encoded in the genome of human.


ZARDAVERINE

A pyridazinone derivative in which pyridazin-3(2H)-one is substituted at C-6 with a 4-(difluoromethoxy)-3-methoxyphenyl group.  It is a phosphodiesterase inhibitor, selective for PDE3 and 4.


name: MYBB_HUMAN Myb-related protein B (sprot)

description: A Myb-related protein B that is encoded in the genome of human.


name: catecholaminergic polymorphic ventricular tachycardia

description: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.


name: NFX1_HUMAN Transcriptional repressor NF-X1 (sprot)

description: A transcriptional repressor NF-X1 that is encoded in the genome of human.


name: PCY2_HUMAN Ethanolamine-phosphate cytidylyltransferase (sprot)

description: An ethanolamine-phosphate cytidylyltransferase that is encoded in the genome of human.


Costello syndrome

description: Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


CUL4B_HUMAN Cullin-4B (sprot)

A cullin-4B that is encoded in the genome of human.


carbon tetrachloride

A chlorocarbon that is methane in which all the hydrogens have been replaced by chloro groups.


HXK3_HUMAN Hexokinase-3 (sprot)

A hexokinase-3 that is encoded in the genome of human.


Brunner syndrome

description: Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.


CINNAMIC ALCOHOL

The E (trans) stereoisomer of cinnamyl alcohol.


TEFF1_HUMAN Tomoregulin-1 (sprot)

A tomoregulin-1 that is encoded in the genome of human.


acadesine

A 1-ribosylimidazolecarboxamide in which the carboxamide group is situated at position 4 of the imidazole ring, which is further substituted at position 5 by an amino group. A purine nucleoside analogue and activator of AMP-activated protein kinase, it is  is used for the treatment of acute lymphoblastic leukemia and is reported to have cardioprotective effects.


PLAK_HUMAN Junction plakoglobin (sprot)

A junction plakoglobin that is encoded in the genome of human.


name: BRD7_HUMAN Bromodomain-containing protein 7 (sprot)

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


abdominal aortic aneurysm

description: Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.


rheumatic heart disease

description: An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.


name: TAF9B_HUMAN Transcription initiation factor TFIID subunit 9B (sprot)

description: A transcription initiation factor TFIID subunit 9B that is encoded in the genome of human.


4-CHLORO-BENZOIC ACID

A monochlorobenzoic acid carrying a chloro substituent at position 4.


name: COQ2_HUMAN 4-hydroxybenzoate polyprenyltransferase, mitochondrial (sprot)

description: A 4-hydroxybenzoate polyprenyltransferase, mitochondrial that is encoded in the genome of human.


A member of the class of pyranoindolizinoquinolines that is (4S)-pyrano[3',4':6,7]indolizino[1,2-b]quinoline-3,14-dione bearing two additional ethyl substituents at positions 4 and 11 as well as two additional hydroxy substituents at positions 4 and 9. It is the active metabolite of irinotecan and is ~1000 times more active than irinotecan itself.


gonococcal conjunctivitis

description: Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.


lactobionic acid

A disaccharide formed between beta-D-galactose and D-gluconic acid.


pleomorphic rhabdomyosarcoma

description: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.


name: GRIK5_HUMAN Glutamate receptor ionotropic, kainate 5 (sprot)

description: A glutamate receptor ionotropic, kainate 5 that is encoded in the genome of human.


classic congenital adrenal hyperplasia

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


name: FMNL1_HUMAN Formin-like protein 1 (sprot)

description: A formin-like protein 1 that is encoded in the genome of human.


diglyceride

A glyceride that is glycerol in which any two of the hydroxy groups have been acylated. In the structure shown, two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group.


TMOD1_HUMAN Tropomodulin-1 (sprot)

A tropomodulin-1 that is encoded in the genome of human.


Hepatic cysts

description: A cystic lesion located in the liver.


buformin

A member of the class of biguanides that is biguanide substituted by a butyl group at position 1. It is an antidiabetic drug with potential antitumor effect.


name: MAZ_HUMAN Myc-associated zinc finger protein (sprot)

description: A Myc-associated zinc finger protein that is encoded in the genome of human.


name: DPOD3_HUMAN DNA polymerase delta subunit 3 (sprot)

description: A DNA polymerase delta subunit 3 that is encoded in the genome of human.


Generalized non-motor (absence) seizure

description: A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


name: MEST_HUMAN Mesoderm-specific transcript homolog protein (sprot)

description: A mesoderm-specific transcript protein that is encoded in the genome of human.


name: MAP1B_HUMAN Microtubule-associated protein 1B (sprot)

description: A microtubule-associated protein 1B that is encoded in the genome of human.


name: RN135_HUMAN E3 ubiquitin-protein ligase RNF135 (sprot)

description: An E3 ubiquitin-protein ligase RNF135 that is encoded in the genome of human.


leptospirosis

description: A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.


name: CAF1A_HUMAN Chromatin assembly factor 1 subunit A (sprot)

description: A chromatin assembly factor 1 subunit A that is encoded in the genome of human.


olfactory neuroblastoma

description: An olfactory neuroblastoma arising in the paranasal sinus.


sialadenitis

description: Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.


name: TNFL9_HUMAN Tumor necrosis factor ligand superfamily member 9 (sprot)

description: A tumor necrosis factor ligand superfamily member 9 that is encoded in the genome of human.


name: UB2D3_HUMAN Ubiquitin-conjugating enzyme E2 D3 (sprot)

description: A ubiquitin-conjugating enzyme E2 D3 that is encoded in the genome of human.


name: LDHC_HUMAN L-lactate dehydrogenase C chain (sprot)

description: An L-lactate dehydrogenase C chain that is encoded in the genome of human.


anaplastic ependymoma

description: Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.


MATR3_HUMAN Matrin-3 (sprot)

A matrin-3 that is encoded in the genome of human.


acute chest syndrome

description: A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.


CFAB_HUMAN Complement factor B (sprot)

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


name: LYOX_HUMAN Protein-lysine 6-oxidase (sprot)

description: A protein-lysine 6-oxidase that is encoded in the genome of human.


ANO4_HUMAN Anoctamin-4 (sprot)

An anoctamin-4 that is encoded in the genome of human.


LOMEFLOXACIN HYDROCHLORIDE

The hydrochloride salt of lomefloxacin. It is administered by mouth to treat bacterial infections including bronchitis and urinary tract infections. It is also used topically as eye drops for the treatment of bacterial conjunctivitis, and as ear drops for the treatment of otitis externa and otitis media.


central nervous system tuberculosis

description: A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.


name: TM14A_HUMAN Transmembrane protein 14A (sprot)

description: A transmembrane protein 14A that is encoded in the genome of human.


AIDS dementia complex

description: A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)


CP2U1_HUMAN Cytochrome P450 2U1 (sprot)

A cytochrome P450 2U1 that is encoded in the genome of human.


Hyperproteinemia

description: An increased concentration of proteins in the blood.


CNTRL_HUMAN Centriolin (sprot)

A centriolin that is encoded in the genome of human.


pituitary gland disorder

description: A disease involving the pituitary gland.


acquired partial lipodystrophy

description: A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.


name: PRDM8_HUMAN PR domain zinc finger protein 8 (sprot)

description: A PR domain zinc finger protein 8 that is encoded in the genome of human.


name: KIFC1_HUMAN Kinesin-like protein KIFC1 (sprot)

description: A kinesin-like protein KIFC1 that is encoded in the genome of human.


FURFURYL ALCOHOL

A furan bearing a hydroxymethyl substituent at the 2-position.


stomach disorder

description: A disease involving the stomach.


smoldering plasma cell myeloma

description: A plasma cell myeloma lacking clinical manifestations and organ impairment.


delgocitinib

A pyrrolopyrimidine that is 7H-pyrrolo[2,3-d]pyrimidine substituted by a (3S,4R)-1-(cyanoacetyl)-3-methyl-1,6-diazaspiro[3.4]octan-6-yl group at position 4. It is a pan-Janus kinase (JAK) inhibitor and is approved for treatment of atopic dermatitis (AD) in Japan.


non-gestational choriocarcinoma

description: A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.


name: CO8A_HUMAN Complement component C8 alpha chain (sprot)

description: A complement component C8 alpha chain that is encoded in the genome of human.


PTMA_HUMAN Prothymosin alpha (sprot)

A prothymosin alpha that is encoded in the genome of human.


sulfonate

The sulfur oxoanion formed by deprotonation of sulfonic acid.


name: S27A5_HUMAN Long-chain fatty acid transport protein 5 (sprot)

description: A long-chain fatty acid transport protein 5 that is encoded in the genome of human.


name: FIBA_HUMAN Fibrinogen alpha chain (sprot)

description: A fibrinogen alpha chain that is encoded in the genome of human.


phosphatidylinositol (18:1/20:4)

A 1-phosphatidyl-1D-myo-inositol in which one acyl group has 18 carbons and 1 double bond while the other has 20 carbons and 4 double bonds.


Adams-Stokes syndrome

description: An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.


TOMATINE

A steroid alkaloid that is tomatidine in which the hydroxy group at position 3 is linked to lycotetraose, a tetrasaccharide composed of two units of D-glucose, one unit of D-xylose, and one unit of D-galactose.


amrubicin

A synthetic anthracycline antibiotic with molecular formula C25H25NO9. A specific inhibitor of topoisomerase II, it is used (particularly as the hydrochloride salt) in the treatment of cancer, especially lung cancer, where it is a prodrug for the active metabolite, ambrucinol.


name: PSA6_HUMAN Proteasome subunit alpha type-6 (sprot)

description: A proteasome subunit alpha type-6 that is encoded in the genome of human.


oxybuprocaine

A benzoate ester in which 4-amino-3-butoxybenzoic acid and 2-(diethylamino)ethanol have combined to form the ester bond; an ester-based local anaesthetic (ester "caine") used especially in ophthalmology and otolaryngology.


pulmonary alveolar proteinosis

description: A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.