eletriptan

An N-alkylpyrrolidine, that is N-methylpyrrolidine in which the pro-R hydrogen at position 2 is replaced by a {5-[2-(phenylsulfonyl)ethyl]-1H-indol-3-yl}methyl group.


name: respiratory syncytial virus bronchiolitis

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

description: Bronciolitis caused by infection with respiratory syncytial virus.


toxic epidermal necrolysis

description: Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.


inborn glycerol kinase deficiency

description: An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.


Hermansky-Pudlak syndrome

description: Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.


S10A3_HUMAN Protein S100-A3 (sprot)

A protein S100-A3 that is encoded in the genome of human.


name: CD37L_HUMAN Hsp90 co-chaperone Cdc37-like 1 (sprot)

description: An Hsp90 co-chaperone Cdc37-like 1 that is encoded in the genome of human.


ARFOLITIXORIN

The (6R)-stereoisomer of 5,10-methylenetetrahydrofolic acid.


name: CLTR2_HUMAN Cysteinyl leukotriene receptor 2 (sprot)

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


Wiedemann-Steiner syndrome

description: Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.


name: CNNM4_HUMAN Metal transporter CNNM4 (sprot)

description: A metal transporter CNNM4 that is encoded in the genome of human.


carotenoid

One of a class of tetraterpenoids (C40), formally derived from the acyclic parent, psi,psi-carotene by hydrogenation, dehydrogenation, cyclization, oxidation, or combination of these processes. This class includes carotenes, xanthophylls and certain compounds that arise from rearrangement of the skeleton of psi,psi-carotene or by loss of part of this structure. Retinoids are excluded.


thoracic cancer

description: A primary or metastatic malignant neoplasm affecting the tissues of the thorax.


NTNG1_HUMAN Netrin-G1 (sprot)

A netrin-G1 that is encoded in the genome of human.


SELK_HUMAN Selenoprotein K (sprot)

A selenoprotein K that is encoded in the genome of human.


name: OTU1_HUMAN Ubiquitin thioesterase OTU1 (sprot)

description: A ubiquitin thioesterase OTU1 that is encoded in the genome of human.


Bardet-Biedl syndrome

description: A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems


name: ZNF24_HUMAN Zinc finger protein 24 (sprot)

description: A zinc finger protein 24 that is encoded in the genome of human.


name: TBXT_HUMAN T-box transcription factor T (sprot)

description: A T-box transcription factor T that is encoded in the genome of human.


name: FRMD7_HUMAN FERM domain-containing protein 7 (sprot)

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


name: CHCH2_HUMAN Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 (sprot)

description: A coiled-coil-helix-coiled-coil-helix domain-containing protein 2 that is encoded in the genome of human.


name: TMED5_HUMAN Transmembrane emp24 domain-containing protein 5 (sprot)

description: A transmembrane emp24 domain-containing protein 5 that is encoded in the genome of human.


A primary aliphatic amine that is n-pentane in which a hydrogen of one of the methyl groups is replaced by an amino group. A water-soluble liquid with boiling point 104degreeC, it is a strong irritant.


name: ABCAA_HUMAN ATP-binding cassette sub-family A member 10 (sprot)

description: An ATP-binding cassette sub-family A member 10 that is encoded in the genome of human.


name: MORC1_HUMAN MORC family CW-type zinc finger protein 1 (sprot)

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


name: TM135_HUMAN Transmembrane protein 135 (sprot)

description: A transmembrane protein 135 that is encoded in the genome of human.


hepatic granuloma

description: A granuloma located in the liver.


beta-D-galactoside

Any D-galactoside having beta-configuration at its anomeric centre.


name: FGF20_HUMAN Fibroblast growth factor 20 (sprot)

description: A fibroblast growth factor 20 that is encoded in the genome of human.


name: VPP4_HUMAN V-type proton ATPase 116 kDa subunit a 4 (sprot)

description: A V-type proton ATPase 116 kDa subunit a 4 that is encoded in the genome of human.


elaiophylin

A macrodiolide that is isolated from several bacteria including Streptomyces violaceoniger and other soil actinomycetes.


tilidine

An amino acid ester that is the ethyl ester of cyclohex-3-ene-1-carboxylic acid in which the cyclohexane ring is substituted at positions 1 and 2 by phenyl and dimethylamino groups, respectively. It has four possible diastereoisomers; the opioid analgesic drug tilidine is a racemate comprising the two trans diastereoisomers.


name: GNL3L_HUMAN Guanine nucleotide-binding protein-like 3-like protein (sprot)

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


name: TRML1_HUMAN Trem-like transcript 1 protein (sprot)

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


ipratropium bromide

The anhydrous form of the bromide salt of ipratropium. An anticholinergic drug, ipratropium bromide blocks the muscarinic cholinergic receptors in the smooth muscles of the bronchi in the lungs. This opens the bronchi, so providing relief in chronic obstructive pulmonary disease and acute asthma.


name: CENPU_HUMAN Centromere protein U (sprot)

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


tovorafenib

A 1,3-thiazolecarboxamide that is 2-[(1R)-1-aminoethyl]-1,3-thiazole-5-carboxylic acid in which the carboxy group undergoes formal condensation with the amino group of 5-chloro-4-(trifluoromethyl)pyridin-2-amine and in which the amino group undergoes formal condensation with the carboxy group of 6-amino-5-chloropyrimidine-4-carboxylic acid. It is a pan-RAF kinase inhibitor which is currently in clinical development for the treatment of radiographically recurrent or progressive low-grade glioma in children and young adults.


name: SMG8_HUMAN Nonsense-mediated mRNA decay factor SMG8 (sprot)

description: A nonsense-mediated mRNA decay factor SMG8 that is encoded in the genome of human.


CAD18_HUMAN Cadherin-18 (sprot)

A cadherin-18 that is encoded in the genome of human.


name: periodic fever, immunodeficiency, and thrombocytopenia syndrome


description: Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.


name: LTOR3_HUMAN Ragulator complex protein LAMTOR3 (sprot)

description: A mitogen-activated protein kinase scaffold protein 1 that is encoded in the genome of human.


granulomatous hypophysitis

description: Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.


name: RPP21_HUMAN Ribonuclease P protein subunit p21 (sprot)

description: A ribonuclease P protein subunit p21 that is encoded in the genome of human.


promegestone

A progestin consisting of 17beta-propionylestra-4,9-dien-3-one substituted at position 17 by a methyl group.


name: ZKSC3_HUMAN Zinc finger protein with KRAB and SCAN domains 3 (sprot)

description: A zinc finger protein with KRAB and SCAN domains 3 that is encoded in the genome of human.


name: gallbladder small cell neuroendocrine carcinoma

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.


NTRK fusion positive cancer

description: Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.


name: XYLT1_HUMAN Xylosyltransferase 1 (sprot)

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


name: STK33_HUMAN Serine/threonine-protein kinase 33 (sprot)

description: A serine/threonine-protein kinase 33 that is encoded in the genome of human.


Paranoia

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

description: An inappropriate feeling of being persecuted or being the subject of hostility from others.


name: LARP7_HUMAN La-related protein 7 (sprot)

description: A La-related protein 7 that is encoded in the genome of human.


name: IL3RA_HUMAN Interleukin-3 receptor subunit alpha (sprot)

description: An interleukin-3 receptor class 2 alpha chain that is encoded in the genome of human.


name: THYN1_HUMAN Thymocyte nuclear protein 1 (sprot)

description: A thymocyte nuclear protein 1 that is encoded in the genome of human.


name: DTX3_HUMAN Probable E3 ubiquitin-protein ligase DTX3 (sprot)

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


name: autosomal dominant hypophosphatemic rickets

description: Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.


name: DDX18_HUMAN ATP-dependent RNA helicase DDX18 (sprot)

description: An ATP-dependent RNA helicase DDX18 that is encoded in the genome of human.


PHOS_HUMAN Phosducin (sprot)

A phosducin that is encoded in the genome of human.


CAD20_HUMAN Cadherin-20 (sprot)

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


hemicrania continua

description: Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.


name: ERCC8_HUMAN DNA excision repair protein ERCC-8 (sprot)

description: A DNA excision repair protein ERCC-8 that is encoded in the genome of human.


CYB_HUMAN Cytochrome b (sprot)

A cytochrome b that is encoded in the genome of human.


IFNK_HUMAN Interferon kappa (sprot)

An interferon kappa that is encoded in the genome of human.


A 3-hydroxy steroid that is 17beta-estradiol substituted by a 11-[butyl(methyl)amino]-11-oxoundecyl group at position 7R. It is a steroidal antioestrogen that inhibits the cell proliferation of breast-carcinoma cell lines.


dermatomycosis

description: Superficial infections of the skin or its appendages by any of various fungi.


CYH2_HUMAN Cytohesin-2 (sprot)

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


chronic mucocutaneous candidiasis

description: Mucocutaneous candidiasis that is persistent or long-standing in nature.


PERM_HUMAN Myeloperoxidase (sprot)

A myeloperoxidase that is encoded in the genome of human.


gas gangrene

description: A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.


TSN9_HUMAN Tetraspanin-9 (sprot)

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


eyelid disorder

description: A disease involving the eyelid.


phosphatidylcholine (20:4/P-18:1)

A 1-acyl-2-(alk-1-enyl)-sn-glycero-3-phosphocholine in which the acyl group contains 20 carbons and 4 double bonds while the alk-1-enyl group contains 18 carbons with 1 additional double bond.


name: NFYC_HUMAN Nuclear transcription factor Y subunit gamma (sprot)

description: A nuclear transcription factor Y subunit gamma that is encoded in the genome of human.


name: H17B6_HUMAN 17-beta-hydroxysteroid dehydrogenase type 6 (sprot)

description: A 17-beta-hydroxysteroid dehydrogenase type 6 that is encoded in the genome of human.


name: TET5A_HUMAN Terminal nucleotidyltransferase 5A (sprot)

description: A terminal nucleotidyltransferase 5A that is encoded in the genome of human.


solitary fibrous tumor

description: Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).


ACETOACETIC ACID

A 3-oxo monocarboxylic acid that is butyric acid bearing a 3-oxo substituent.


An enone that is cyclopentanone having a C=C double bond at position 2.


name: TTBK2_HUMAN Tau-tubulin kinase 2 (sprot)

description: A tau-tubulin kinase 2 that is encoded in the genome of human.


SALICYLADEHYDE

A hydroxybenzaldehyde carrying a hydroxy substituent at position 2.


name: PRP4_HUMAN U4/U6 small nuclear ribonucleoprotein Prp4 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp4 that is encoded in the genome of human.


anemia of prematurity

description: A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.


name: OCAT2_HUMAN POU class 2 homeobox associating factor 3 (sprot)

description: A protein that is a translation product of the POU2AF3 gene in human.


name: COLC1_HUMAN Colorectal cancer-associated protein 1 (sprot)

description: A protein that is a translation product of the COLCA1 gene in human.


eosinophilic gastritis

description: An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.


4-hydroxymandelic acid

A 2-hydroxy carboxylic acid that is mandelic acid bearing a phenolic hydroxy substituent at position 4.


NIBA3_HUMAN Protein Niban 3 (sprot)

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


name: UB2D2_HUMAN Ubiquitin-conjugating enzyme E2 D2 (sprot)

description: A ubiquitin-conjugating enzyme E2 D2 that is encoded in the genome of human.


name: CCHL_HUMAN Holocytochrome c-type synthase (sprot)

description: A holocytochrome c-type synthase that is encoded in the genome of human.


name: hantavirus hemorrhagic fever with renal syndrome

description: A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.


name: VAC14_HUMAN Protein VAC14 homolog (sprot)

description: A protein VAC14 that is encoded in the genome of human.


CP3A7_HUMAN Cytochrome P450 3A7 (sprot)

A cytochrome P450 3A7 that is encoded in the genome of human.


butyrate

A short-chain fatty acid anion that is the conjugate base of butyric acid, obtained by deprotonation of the carboxy group.


name: CTL1_HUMAN Choline transporter-like protein 1 (sprot)

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


Spontaneous hematomas

description: Spontaneous development of hematomas (hematoma) or bruises without significant trauma.


follicular thyroid adenoma

description: A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.


name: HHEX_HUMAN Hematopoietically-expressed homeobox protein HHEX (sprot)

description: A hematopoietically-expressed homeobox protein HHEX that is encoded in the genome of human.


renal aminoaciduria

description: A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.


hypoalphalipoproteinemia

description: A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.


name: ARI3A_HUMAN AT-rich interactive domain-containing protein 3A (sprot)

description: An AT-rich interactive domain-containing protein 3A that is encoded in the genome of human.


name: MIA_HUMAN Melanoma-derived growth regulatory protein (sprot)

description: A melanoma-derived growth regulatory protein that is encoded in the genome of human.


EUSCAPHIC ACID

A pentacyclic triterpenoid that is urs-12-en-28-oic acid substituted by hydroxy groups at positions 2, 3 and 19 respectively (the 2alpha,3alpha-stereoisomer). It has been isolated from the leaves of Rosa laevigata.


Hypodipsia

description: Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.


name: SERC3_HUMAN Serine incorporator 3 (sprot)

description: A serine incorporator 3 that is encoded in the genome of human.


sulfacetamide

A sulfonamide that is sulfanilamide acylated on the sulfonamide nitrogen.


acquired xanthinuria

description: Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.


diffuse type adenocarcinoma

description: An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.


LIPH_HUMAN Lipase member H (sprot)

A lipase member H that is encoded in the genome of human.


name: TYPH_HUMAN Thymidine phosphorylase (sprot)

description: A thymidine phosphorylase that is encoded in the genome of human.


SEM3D_HUMAN Semaphorin-3D (sprot)

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


name: TPPC9_HUMAN Trafficking protein particle complex subunit 9 (sprot)

description: A trafficking protein particle complex subunit 9 that is encoded in the genome of human.


name: ZDHC7_HUMAN Palmitoyltransferase ZDHHC7 (sprot)

description: A palmitoyltransferase ZDHHC7 that is encoded in the genome of human.


name: CABP8_HUMAN Calcium-binding protein 8 (sprot)

description: A calcium-binding protein 8 that is encoded in the genome of human.


name: MORC4_HUMAN MORC family CW-type zinc finger protein 4 (sprot)

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


name: EMAL2_HUMAN Echinoderm microtubule-associated protein-like 2 (sprot)

description: An echinoderm microtubule-associated protein-like 2 that is encoded in the genome of human.


temporomandibular joint disorder

description: Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.


SUCCINYLCHOLINE CHLORIDE

A chloride salt in which the negative charge of the chloride ions is balanced by succinylcholine dications.


name: PAR12_HUMAN Protein mono-ADP-ribosyltransferase PARP12 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP12 that is encoded in the genome of human.


name: FGD6_HUMAN FYVE, RhoGEF and PH domain-containing protein 6 (sprot)

description: A FYVE, RhoGEF and PH domain-containing protein 6 that is encoded in the genome of human.


name: MYLK3_HUMAN Myosin light chain kinase 3 (sprot)

description: A myosin light chain kinase 3 that is encoded in the genome of human.


name: ARL4D_HUMAN ADP-ribosylation factor-like protein 4D (sprot)

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


CYCLOHEXANE

An alicyclic hydrocarbon comprising a ring of six carbon atoms; the cyclic form of hexane, used as a raw material in the manufacture of nylon.


appendicitis

description: Acute inflammation of the vermiform appendix.


Chediak-Higashi syndrome

description: ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.


Canavan disease

description: A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.


Abnormality of the outer ear

description: An abnormality of the external ear.


name: ADA1B_HUMAN Alpha-1B adrenergic receptor (sprot)

description: An alpha-1B adrenergic receptor that is encoded in the genome of human.


name: NUFP1_HUMAN FMR1-interacting protein NUFIP1 (sprot)

description: An FMR1-interacting protein NUFIP1 that is encoded in the genome of human.


name: HES3_HUMAN Transcription factor HES-3 (sprot)

description: A transcription factor HES-3 that is encoded in the genome of human.


ceforanide

A second-generation cephalosporin antibiotic with {[1-(carboxymethyl)-1H-tetrazol-5-yl]sulfanyl}methyl and 2-(aminomethyl)phenylacetamido groups at positions 3 and 7, respectively, of the cephem skeleton. It is effective against many coliforms, including Escherichia coli, Klebsiella, Enterobacter and Proteus, and most strains of Salmonella, Shigella, Hemophilus, Citrobacter and Arizona species.


name: MDGA1_HUMAN MAM domain-containing glycosylphosphatidylinositol anchor protein 1 (sprot)

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


name: ID4_HUMAN DNA-binding protein inhibitor ID-4 (sprot)

description: A DNA-binding protein inhibitor ID-4 that is encoded in the genome of human.


TRICHODIMEROL

An organic heterotetracyclic compound found in Trichoderma longibrachiatum and Penicillium chrysogenum.


name: FUCT1_HUMAN GDP-fucose transporter 1 (sprot)

description: A GDP-fucose transporter 1 that is encoded in the genome of human.


Bell's palsy

description: Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.


name: arrhythmogenic right ventricular cardiomyopathy

description: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.


name: NWD1_HUMAN NACHT domain- and WD repeat-containing protein 1 (sprot)

description: A NACHT domain- and WD repeat-containing protein 1 that is encoded in the genome of human.


name: HOOK2_HUMAN Protein Hook homolog 2 (sprot)

description: A protein Hook homolog 2 that is encoded in the genome of human.


MREG_HUMAN Melanoregulin (sprot)

A melanoregulin that is encoded in the genome of human.


name: RS12_HUMAN Small ribosomal subunit protein eS12 (sprot)

description: A small ribosomal subunit protein eS12 that is encoded in the genome of human.


arbovirus infection

description: A viral infection that is transmitted by an arthropod.


name: PLOD3_HUMAN Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 (sprot)

description: A multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 that is encoded in the genome of human.


myxedema

description: A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.


MTM1_HUMAN Myotubularin (sprot)

A myotubularin that is encoded in the genome of human.


ANDR_HUMAN Androgen receptor (sprot)

An androgen receptor that is encoded in the genome of human.


name: CK5P3_HUMAN CDK5 regulatory subunit-associated protein 3 (sprot)

description: A CDK5 regulatory subunit-associated protein 3 that is encoded in the genome of human.


name: NPAS3_HUMAN Neuronal PAS domain-containing protein 3 (sprot)

description: A neuronal PAS domain-containing protein 3 that is encoded in the genome of human.


name: respiratory distress syndrome in premature infants

description: Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.


name: HXA6_HUMAN Homeobox protein Hox-A6 (sprot)

description: A homeobox protein Hox-A6 that is encoded in the genome of human.


gallbladder neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).


phosphatidylethanolamine (16:1/18:1)

A phosphatidylethanolamine in which one acyl group has 16 carbons and 1 double bond while the other has 18 carbons and 1 double bond.


SNTA1_HUMAN Alpha-1-syntrophin (sprot)

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


name: SYRC_HUMAN Arginine--tRNA ligase, cytoplasmic (sprot)

description: An arginine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: UB2J2_HUMAN Ubiquitin-conjugating enzyme E2 J2 (sprot)

description: A ubiquitin-conjugating enzyme E2 J2 that is encoded in the genome of human.


SYNRG_HUMAN Synergin gamma (sprot)

A synergin gamma that is encoded in the genome of human.


Halitosis

description: Noticeably unpleasant odors exhaled in breathing.


pristanic acid

A branched, long-chain saturated fatty acid composed of pentadecanoic acid having methyl substituents at the 2-, 6-, 10- and 14-positions.


Testicular adrenal rest tumor

description: Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.


cardiovascular disorder

description: A disease involving the cardiovascular system.


cardia cancer

description: A malignant neoplasm involving the cardia of stomach.


name: DLRB1_HUMAN Dynein light chain roadblock-type 1 (sprot)

description: A dynein light chain roadblock-type 1 that is encoded in the genome of human.


Dysmetria

description: A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.


sarcomatoid renal cell carcinoma

description: A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.


ISOALANTOLACTONE

A sesquiterpene lactone of the eudesmanolide group. It has been isolated from Inula helenium.


name: CYB5B_HUMAN Cytochrome b5 type B (sprot)

description: A cytochrome b5 type B that is encoded in the genome of human.


name: MTEF2_HUMAN Transcription termination factor 2, mitochondrial (sprot)

description: A transcription termination factor 2, mitochondrial that is encoded in the genome of human.


name: M3K6_HUMAN Mitogen-activated protein kinase kinase kinase 6 (sprot)

description: A mitogen-activated protein kinase kinase kinase 6 that is encoded in the genome of human.


PYRG1_HUMAN CTP synthase 1 (sprot)

A CTP synthase 1 that is encoded in the genome of human.


name: LRC26_HUMAN Leucine-rich repeat-containing protein 26 (sprot)

description: A leucine-rich repeat-containing protein 26 that is encoded in the genome of human.


name: SKI2_HUMAN Superkiller complex protein 2 (sprot)

description: A superkiller complex protein 2 that is encoded in the genome of human.


ELIPRODIL

A member of the class of piperidines that is piperidine substituted by a 2-(4-chlorophenyl)-2-hydroxyethyl group at position 1 and by a 4-fluorobenzyl group at position 4.


name: COX15_HUMAN Heme A synthase COX15 (sprot)

description: A cytochrome c oxidase assembly protein COX15 that is encoded in the genome of human.


Norum disease

description: A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.


3-O-methylgallic acid

A member of the class of benzoic acids that is gallic acid in which the phenolic hydroxy group at position 3 is converted into the corresponding methyl ether.


name: IL9R_HUMAN Interleukin-9 receptor (sprot)

description: An interleukin-9 receptor that is encoded in the genome of human.


SNX32_HUMAN Sorting nexin-32 (sprot)

A sorting nexin-32 that is encoded in the genome of human.


name: UBTD1_HUMAN Ubiquitin domain-containing protein 1 (sprot)

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


name: BRSK2_HUMAN Serine/threonine-protein kinase BRSK2 (sprot)

description: A serine/threonine-protein kinase BRSK2 that is encoded in the genome of human.


Intellectual disability, profound

description: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.


name: MKS1_HUMAN Tectonic-like complex member MKS1 (sprot)

description: A tectonic-like complex member MKS1 that is encoded in the genome of human.


name: HEM0_HUMAN 5-aminolevulinate synthase, erythroid-specific, mitochondrial (sprot)

description: A 5-aminolevulinate synthase, erythroid-specific, mitochondrial that is encoded in the genome of human.


name: CCD33_HUMAN Coiled-coil domain-containing protein 33 (sprot)

description: A coiled-coil domain-containing protein 33 that is encoded in the genome of human.


name: RAGP1_HUMAN Ran GTPase-activating protein 1 (sprot)

description: A Ran GTPase-activating protein 1 that is encoded in the genome of human.


gallein

A xanthene dye that is fluoran carrying four hydroxy substituents at positions 3', 4', 5' and 6'.


name: STAU2_HUMAN Double-stranded RNA-binding protein Staufen homolog 2 (sprot)

description: A double-stranded RNA-binding protein Staufen homolog 2 that is encoded in the genome of human.


An ammonium ion that is the conjugate acid of L-histidinol arising from protonation of the primary amino function; major species at pH 7.3.


primary pulmonary lymphoma

description: Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).


name: DDC_HUMAN Aromatic-L-amino-acid decarboxylase (sprot)

description: An aromatic-L-amino-acid decarboxylase that is encoded in the genome of human.


syndromic microphthalmia

description: A microphthalmia that is part of a larger syndrome.


A phenylacetaldehyde in which the 3 and 4 positions of the phenyl group are substituted by hydroxy groups.


name: TMC1_HUMAN Transmembrane channel-like protein 1 (sprot)

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


PCD18_HUMAN Protocadherin-18 (sprot)

A protocadherin-18 that is encoded in the genome of human.


EXPH5_HUMAN Exophilin-5 (sprot)

An exophilin-5 that is encoded in the genome of human.


SPA9_HUMAN Serpin A9 (sprot)

A serpin A9 that is encoded in the genome of human.


A member of the class of cyclopropenes that is cyclopropene in which the hydrogen at position 1 has been replaced by a methyl group. A gas at room temperture and pressure, it is a (synthetic) ethylene perception inhibitor and is used to prolong the life of cut and potted flowers, other ornamental plants, and fruit.


hypoplastic left heart syndrome

description: Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.


SILVESTROL

An organic heterotricyclic compound that consists of a  2,3,3a,8b-tetrahydro-H-benzo[b]cyclopenta[d]furan framework substituted by hydroxy groups at positions C-1 and C-8b, a methoxycarbonyl group at C-2, a phenyl group at C-3, a 4-methoxyphenyl group at C-3a, a methoxy group at C-8 and a 1,4-dioxan-2-yloxy group at position C-6 which in turn is substituted by a methoxy group at position 3 and a 1,2-dihydroxyethyl group at position 6. Isolated from Aglaia silvestris, it exhibits antineoplastic activity.


name: TM102_HUMAN Transmembrane protein 102 (sprot)

description: A transmembrane protein 102 that is encoded in the genome of human.


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


FBX3_HUMAN F-box only protein 3 (sprot)

An F-box only protein 3 that is encoded in the genome of human.


name: VTDB_HUMAN Vitamin D-binding protein (sprot)

description: A vitamin D-binding protein that is encoded in the genome of human.


pilsicainide

A secondary carboxamide resulting from the formal condensation of the amino group of 2,6-dimethylaniline with the carboxy group of (tetrahydro-1H-pyrrolizin-7a(5H)-yl)acetic acid. It is a sodium channel blocker which is used as an antiarrhythmic drug for the management of atrial tachyarrhythmias in Japan.


extraskeletal myxoid chondrosarcoma

description: A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.


name: SL9B2_HUMAN Sodium/hydrogen exchanger 9B2 (sprot)

description: A sodium/hydrogen exchanger 9B2 that is encoded in the genome of human.


CBLN2_HUMAN Cerebellin-2 (sprot)

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


name: GRID1_HUMAN Glutamate receptor ionotropic, delta-1 (sprot)

description: A glutamate receptor ionotropic, delta-1 that is encoded in the genome of human.


neonatal sepsis

description: Bacterial infection in the bloodstream of newborn infants younger than 28 days old.


bexagliflozin

A C-glycosyl comprising of beta-D-glucose in which the anomeric hydroxy group is replaced by a 4-chloro-3-({4-[2-(cyclopropyloxy)ethoxy]phenyl}methyl)phenyl group. It is a sodium-glucose co-transporter 2 (SGLT2) inhibitor indicated as an adjunct to diet and exercise to improve glycemic control in adults with type 2 diabetes mellitus.


name: GNA13_HUMAN Guanine nucleotide-binding protein subunit alpha-13 (sprot)

description: A guanine nucleotide-binding protein subunit alpha-13 that is encoded in the genome of human.


chromophobe renal cell carcinoma

description: Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.


Ichthyosis follicularis

description: Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


name: ARL6_HUMAN ADP-ribosylation factor-like protein 6 (sprot)

description: An ADP-ribosylation factor-like protein 6 that is encoded in the genome of human.


SLIB_HUMAN Somatoliberin (sprot)

A somatoliberin that is encoded in the genome of human.


name: GCN1_HUMAN Stalled ribosome sensor GCN1 (sprot)

description: A stalled ribosome sensor GCN1 that is encoded in the genome of human.


name: ABTB3_HUMAN Ankyrin repeat and BTB/POZ domain-containing protein 3 (sprot)

description: An ankyrin repeat and BTB/POZ domain-containing protein 3 that is encoded in the genome of human.


name: RHBL3_HUMAN Rhomboid-related protein 3 (sprot)

description: A rhomboid-related protein 3 that is encoded in the genome of human.


corneal neovascularization

description: New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.


name: TAF9_HUMAN Transcription initiation factor TFIID subunit 9 (sprot)

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


name: EXOS1_HUMAN Exosome complex component CSL4 (sprot)

description: An exosome complex component CSL4 that is encoded in the genome of human.


Tractional retinal detachment

description: A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.


name: UBE2O_HUMAN (E3-independent) E2 ubiquitin-conjugating enzyme (sprot)

description: An (E3-independent) E2 ubiquitin-conjugating enzyme that is encoded in the genome of human.


An organoboron compound that is diphenylborane in which the borane hydrogen is replaced by a 2-aminoethoxy group.


Cardiac myxoma

description: A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.


benign familial infantile epilepsy

description: A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.


name: autosomal recessive congenital ichthyosis

description: Autosomal recessive form of inherited ichthyosis.


name: ORC3_HUMAN Origin recognition complex subunit 3 (sprot)

description: An origin recognition complex subunit 3 that is encoded in the genome of human.


ginsenoside Mc

A ginsenoside found in Panax notoginseng that is dammarane which is substituted by hydroxy groups at the 3beta, 12beta and 20 pro-S positions and in which the hydroxy group at position 20 has been converted to the corresponding alpha-L-arabinofuranosyl-beta-D-glucopyranoside.


name: HGFA_HUMAN Hepatocyte growth factor activator (sprot)

description: A hepatocyte growth factor activator that is encoded in the genome of human.


name: TASP1_HUMAN Threonine aspartase 1 (sprot)

description: A threonine aspartase 1 that is encoded in the genome of human.


renal dysplasia

description: Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.


name: MD2BP_HUMAN MAD2L1-binding protein (sprot)

description: A MAD2L1-binding protein that is encoded in the genome of human.


CERS3_HUMAN Ceramide synthase 3 (sprot)

A ceramide synthase 3 that is encoded in the genome of human.


name: SHC4_HUMAN SHC-transforming protein 4 (sprot)

description: An SHC-transforming protein 4 that is encoded in the genome of human.


name: Hyperintensity of cerebral white matter on MRI

description: A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


name: ISK5_HUMAN Serine protease inhibitor Kazal-type 5 (sprot)

description: A serine protease inhibitor Kazal-type 5 that is encoded in the genome of human.


adenocarcinoma in situ

description: A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.


name: WDR46_HUMAN WD repeat-containing protein 46 (sprot)

description: A WD repeat-containing protein 46 that is encoded in the genome of human.


name: RPGF5_HUMAN Rap guanine nucleotide exchange factor 5 (sprot)

description: A Rap guanine nucleotide exchange factor 5 that is encoded in the genome of human.


Pituitary microadenoma

description: A pituitary adenoma that is less than 10 mm in diameter.


levodropropizine

A member of the class of N-arylpiperazines that is N-phenylpiperazine in which the amino hydrogen is replaced by a 2,3-dihydroxypropyl group (the S-enantiomer). A peripherally acting antitussive drug that is used as an alternative to opioids.


chronic pyelonephritis

description: Persistent pyelonephritis.


TRYB2_HUMAN Tryptase beta-2 (sprot)

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


molybdate

A divalent inorganic anion obtained by removal of both protons from molybdic acid


name: ST1A2_HUMAN Sulfotransferase 1A2 (sprot)

description: A sulfotransferase 1A2 that is encoded in the genome of human.


doxofylline

An oxopurine that is a derivative of xanthine, methylated at N-1 and N-3 and carrying a 1,3-dioxolan-2-ylmethyl group at N-7, used in the treatment of asthma.


name: ES8L1_HUMAN Epidermal growth factor receptor kinase substrate 8-like protein 1 (sprot)

description: An epidermal growth factor receptor kinase substrate 8-like protein 1 that is encoded in the genome of human.


hereditary folate malabsorption

description: Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.


name: ICEF1_HUMAN Interactor protein for cytohesin exchange factors 1 (sprot)

description: An interactor protein for cytohesin exchange factors 1 that is encoded in the genome of human.


name: GLGB_HUMAN 1,4-alpha-glucan-branching enzyme (sprot)

description: A 1,4-alpha-glucan-branching enzyme that is encoded in the genome of human.


chloromethylisothiazolinone

A 1,2-thiazole that is 4-isothiazolin-3-one bearing a methyl group on the nitrogen atom and a chlorine at C-5. It is a powerful biocide and preservative and is the major active ingredient in the commercial product Kathon(TM).


PROCAINAMIDE HYDROCHLORIDE

A hydrochloride which has procainamide as the amino component.


name: AMER2_HUMAN APC membrane recruitment protein 2 (sprot)

description: An APC membrane recruitment protein 2 that is encoded in the genome of human.


name: ODFP1_HUMAN Outer dense fiber protein 1 (sprot)

description: An outer dense fiber protein 1 that is encoded in the genome of human.


VWC2_HUMAN Brorin (sprot)

A brorin that is encoded in the genome of human.


gastric liposarcoma

description: A malignant adipose tissue neoplasm of the stomach.


name: RBGP1_HUMAN Rab GTPase-activating protein 1 (sprot)

description: A Rab GTPase-activating protein 1 that is encoded in the genome of human.


name: AK17A_HUMAN A-kinase anchor protein 17A (sprot)

description: An A-kinase anchor protein 17A that is encoded in the genome of human.


pheochromocytoma-paraganglioma

description: A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.


tramadol hydrochloride

A racemate consisting of equal amounts of (R,R)- and (S,S)-tramadol hydrochloride. A centrally acting synthetic opioid analgesic, used to treat moderately severe pain. The (R,R)-enantiomer exhibits ten-fold higher analgesic potency than the (S,S)-enantiomer.


monodansylcadaverine

A sulfonamide obtained by formal condensation of the sulfo group of 5-(dimethylamino)naphthalene-1-sulfonic acid with one of the amino groups of cadaverine.


Silver-Russell syndrome

description: Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.


IRINOTECAN HYDROCHLORIDE

A hydrate that is the trihydrate form of irinotecan hydrochloride. Onivyde is used in combination with fluorouracil and leucovorin, for the treatment of patients with metastatic adenocarcinoma of the pancreas after disease progression following gemcitabine-based therapy. It is converted via hydrolysis of the carbamate linkage to its active metabolite, SN-38, which is ~1000 times more active.


4-guanidinobutyric acid

A monocarboxylic acid that is butanoic acid substituted by a guanidino group at position 4.


name: TM40L_HUMAN Mitochondrial import receptor subunit TOM40B (sprot)

description: A mitochondrial import receptor subunit TOM40B that is encoded in the genome of human.


name: AKAP8_HUMAN A-kinase anchor protein 8 (sprot)

description: An A-kinase anchor protein 8 that is encoded in the genome of human.


name: HIC2_HUMAN Hypermethylated in cancer 2 protein (sprot)

description: A hypermethylated in cancer 2 protein that is encoded in the genome of human.


ST segment elevation

description: An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.


The 7alpha-hydroxy derivative of cholesterol.


name: DHSO_HUMAN Sorbitol dehydrogenase (sprot)

description: A sorbitol dehydrogenase that is encoded in the genome of human.


alcoholic polyneuropathy

description: Any disease affecting more than one nerve.


name: TARG1_HUMAN Trafficking regulator of GLUT4 1 (sprot)

description: A trafficking regulator of GLUT4 1 that is encoded in the genome of human.


name: BCL7A_HUMAN B-cell CLL/lymphoma 7 protein family member A (sprot)

description: A B-cell CLL/lymphoma 7 protein family member A that is encoded in the genome of human.


name: ALX4_HUMAN Homeobox protein aristaless-like 4 (sprot)

description: A homeobox protein aristaless-like 4 that is encoded in the genome of human.


name: neuroendocrine secretory protein 55 isoform Nesp55 (human)

description: A GNAS gene translation product (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95467-1.


name: NLGNX_HUMAN Neuroligin-4, X-linked (sprot)

description: A neuroligin-4, X-linked that is encoded in the genome of human.


cutaneous polyarteritis nodosa

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


name: SRPX_HUMAN Sushi repeat-containing protein SRPX (sprot)

description: A sushi repeat-containing protein SRPX that is encoded in the genome of human.


petroselinic acid

The cis-isomer of octadec-6-enoic acid, a long-chain fatty acid.


name: RUN3A_HUMAN RUN domain-containing protein 3A (sprot)

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


MTPN_HUMAN Myotrophin (sprot)

A myotrophin that is encoded in the genome of human.


chikungunya

description: An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.


name: ALG2_HUMAN Alpha-1,3/1,6-mannosyltransferase ALG2 (sprot)

description: An alpha-1,3/1,6-mannosyltransferase ALG2 that is encoded in the genome of human.


name: KI3L2_HUMAN Killer cell immunoglobulin-like receptor 3DL2 (sprot)

description: A killer cell immunoglobulin-like receptor 3DL2 that is encoded in the genome of human.


name: HCST_HUMAN Hematopoietic cell signal transducer (sprot)

description: A hematopoietic cell signal transducer that is encoded in the genome of human.


name: TIPIN_HUMAN TIMELESS-interacting protein (sprot)

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


name: TBC15_HUMAN TBC1 domain family member 15 (sprot)

description: A TBC1 domain family member 15 that is encoded in the genome of human.


name: NAR5_HUMAN Ecto-ADP-ribosyltransferase 5 (sprot)

description: An ecto-ADP-ribosyltransferase 5 that is encoded in the genome of human.


(-)-CAMPHOR

The S-enantiomer of camphor.


name: PSG4_HUMAN Pregnancy-specific beta-1-glycoprotein 4 (sprot)

description: A pregnancy-specific beta-1-glycoprotein 4 that is encoded in the genome of human.


photosensitive epilepsy

description: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.


name: CL18B_HUMAN C-type lectin domain family 18 member B (sprot)

description: A C-type lectin domain family 18 member B that is encoded in the genome of human.


KIME_HUMAN Mevalonate kinase (sprot)

A mevalonate kinase that is encoded in the genome of human.


Axial hypotonia

description: Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.


name: GGPPS_HUMAN Geranylgeranyl pyrophosphate synthase (sprot)

description: A geranylgeranyl pyrophosphate synthase that is encoded in the genome of human.


name: GNA12_HUMAN Guanine nucleotide-binding protein subunit alpha-12 (sprot)

description: A guanine nucleotide-binding protein subunit alpha-12 that is encoded in the genome of human.


name: HEMH_HUMAN Ferrochelatase, mitochondrial (sprot)

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


malignant hypertension

description: Severe hypertension that is characterized by rapid onset of extremely high blood pressure.


name: DBR1_HUMAN Lariat debranching enzyme (sprot)

description: A lariat debranching enzyme that is encoded in the genome of human.


name: SOX30_HUMAN Transcription factor SOX-30 (sprot)

description: A transcription factor SOX-30 that is encoded in the genome of human.


ovarian cyst

description: A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods.


name: LCMT1_HUMAN Leucine carboxyl methyltransferase 1 (sprot)

description: A leucine carboxyl methyltransferase 1 that is encoded in the genome of human.


CCNL1_HUMAN Cyclin-L1 (sprot)

A cyclin-L1 that is encoded in the genome of human.


FENPROPIDIN

A racemate comprising equimolar amounts of (R)- and (S)-fenpropidin. A systemic fungicide, it is used for the control of foliar diseases in cereals and sugar beet.


phosphatidylethanolamine (17:1/18:0)

A phosphatidylethanolamine 35:1 in which the acyl group at C-1 contains 17 carbons and 1 double bond while that at C-2 contains 18 carbons and no double bonds.


name: DOCK6_HUMAN Dedicator of cytokinesis protein 6 (sprot)

description: A dedicator of cytokinesis protein 6 that is encoded in the genome of human.


name: GPV_HUMAN Platelet glycoprotein V (sprot)

description: A platelet glycoprotein V that is encoded in the genome of human.


name: HEAT1_HUMAN HEAT repeat-containing protein 1 (sprot)

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


name: FPRP_HUMAN Prostaglandin F2 receptor negative regulator (sprot)

description: A prostaglandin F2 receptor negative regulator that is encoded in the genome of human.


CCNL2_HUMAN Cyclin-L2 (sprot)

A cyclin-L2 that is encoded in the genome of human.


name: CLH2_HUMAN Clathrin heavy chain 2 (sprot)

description: A clathrin heavy chain 2 that is encoded in the genome of human.


name: UACA_HUMAN Uveal autoantigen with coiled-coil domains and ankyrin repeats (sprot)

description: A uveal autoantigen with coiled-coil domains and ankyrin repeats that is encoded in the genome of human.


name: BBS2_HUMAN Bardet-Biedl syndrome 2 protein (sprot)

description: A Bardet-Biedl syndrome 2 protein that is encoded in the genome of human.


colchicine

An  alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum.


name: autosomal dominant nocturnal frontal lobe epilepsy

description: A seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.


VIPoma

description: VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).


name: UBP35_HUMAN Ubiquitin carboxyl-terminal hydrolase 35 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 35 that is encoded in the genome of human.


name: AGRE5_HUMAN Adhesion G protein-coupled receptor E5 (sprot)

description: An adhesion G protein-coupled receptor E5 that is encoded in the genome of human.


name: GRP3_HUMAN Ras guanyl-releasing protein 3 (sprot)

description: A Ras guanyl-releasing protein 3 that is encoded in the genome of human.


name: ZN383_HUMAN Zinc finger protein 383 (sprot)

description: A zinc finger protein 383 that is encoded in the genome of human.


name: non-functional pancreatic neuroendocrine tumor

description: A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.


EPOTHILONE D

An epithilone that is epithilone C in which the hydrogen at position 13 of the oxacyclohexadec-13-ene-2,6-dione macrocycle has been replaced by a methyl group.


hard palate cancer

description: A malignant neoplasm involving the hard palate.


COR1A_HUMAN Coronin-1A (sprot)

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


name: AT2B3_HUMAN Plasma membrane calcium-transporting ATPase 3 (sprot)

description: A plasma membrane calcium-transporting ATPase 3 that is encoded in the genome of human.


name: C42S2_HUMAN CDC42 small effector protein 2 (sprot)

description: A CDC42 small effector protein 2 that is encoded in the genome of human.


name: MYO9A_HUMAN Unconventional myosin-IXa (sprot)

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


name: SH3K1_HUMAN SH3 domain-containing kinase-binding protein 1 (sprot)

description: An SH3 domain-containing kinase-binding protein 1 that is encoded in the genome of human.


neuralgic amyotrophy

description: Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.


acute pericementitis

description: An acute inflammatory process that affects the tissues that surround and support the teeth.


name: RHCG_HUMAN Ammonium transporter Rh type C (sprot)

description: An ammonium transporter Rh type C that is encoded in the genome of human.


name: ENTP2_HUMAN Ectonucleoside triphosphate diphosphohydrolase 2 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 2 that is encoded in the genome of human.


gamma-heavy chain disease

description: Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


name: SRRM4_HUMAN Serine/arginine repetitive matrix protein 4 (sprot)

description: A serine/arginine repetitive matrix protein 4 that is encoded in the genome of human.


name: pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


uterine corpus leiomyoma

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


name: AL3A2_HUMAN Aldehyde dehydrogenase family 3 member A2 (sprot)

description: An aldehyde dehydrogenase family 3 member A2 that is encoded in the genome of human.


name: Z354A_HUMAN Zinc finger protein 354A (sprot)

description: A zinc finger protein 354A that is encoded in the genome of human.


SERTRALINE HYDROCHLORIDE

A hydrochloride resulting from the reaction of equimolar amounts of sertraline and hydrogen chloride. A selective serotonin-reuptake inhibitor (SSRI), it is administered orally as an antidepressant for the treatment of depression, obsessive-compulsive disorder, panic disorder and post-traumatic stress disorder.


name: TCF25_HUMAN Ribosome quality control complex subunit TCF25 (sprot)

description: A ribosome quality control complex subunit TCF25 that is encoded in the genome of human.


name: RABE1_HUMAN Rab GTPase-binding effector protein 1 (sprot)

description: A Rab GTPase-binding effector protein 1 that is encoded in the genome of human.


name: MPPD2_HUMAN Metallophosphoesterase MPPED2 (sprot)

description: A metallophosphoesterase MPPED2 that is encoded in the genome of human.


name: MSS51_HUMAN Putative protein MSS51 homolog, mitochondrial (sprot)

description: A putative protein MSS51 homolog, mitochondrial that is encoded in the genome of human.


Abnormal blood ion concentration

description: Abnormality of the homeostasis (concentration) of a monoatomic ion.


name: UFD1_HUMAN Ubiquitin recognition factor in ER-associated degradation protein 1 (sprot)

description: A ubiquitin recognition factor in ER-associated degradation protein 1 that is encoded in the genome of human.


Hernia

description: The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.


name: GOGA2_HUMAN Golgin subfamily A member 2 (sprot)

description: A golgin subfamily A member 2 that is encoded in the genome of human.


name: KIN17_HUMAN DNA/RNA-binding protein KIN17 (sprot)

description: A DNA/RNA-binding protein KIN17 that is encoded in the genome of human.


name: GSTO2_HUMAN Glutathione S-transferase omega-2 (sprot)

description: A glutathione S-transferase omega-2 that is encoded in the genome of human.


name: LAMC3_HUMAN Laminin subunit gamma-3 (sprot)

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


KIBRA_HUMAN Protein KIBRA (sprot)

A protein WWC1 that is encoded in the genome of human.


name: EPC2_HUMAN Enhancer of polycomb homolog 2 (sprot)

description: An enhancer of polycomb homolog 2 that is encoded in the genome of human.


collagenous gastritis

description: A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.


SYT16_HUMAN Synaptotagmin-16 (sprot)

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


name: PRR11_HUMAN Proline-rich protein 11 (sprot)

description: A proline-rich protein 11 that is encoded in the genome of human.


flunitrazepam

A 1,4-benzodiazepinone that is nitrazepam substituted by a methyl group at position 1 and by a fluoro group at position 2'. It is a potent hypnotic, sedative, and amnestic drug used to treat chronic insomnia.


name: ZN350_HUMAN Zinc finger protein 350 (sprot)

description: A zinc finger protein 350 that is encoded in the genome of human.


name: PHLD_HUMAN Phosphatidylinositol-glycan-specific phospholipase D (sprot)

description: A phosphatidylinositol-glycan-specific phospholipase D that is encoded in the genome of human.


MUC7_HUMAN Mucin-7 (sprot)

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


name: SLIK1_HUMAN SLIT and NTRK-like protein 1 (sprot)

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


name: SLIK2_HUMAN SLIT and NTRK-like protein 2 (sprot)

description: A SLIT and NTRK-like protein 2 that is encoded in the genome of human.


name: HBAP1_HUMAN HSPB1-associated protein 1 (sprot)

description: An HSPB1-associated protein 1 that is encoded in the genome of human.


argininosuccinic aciduria

description: Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.


name: CELR1_HUMAN Cadherin EGF LAG seven-pass G-type receptor 1 (sprot)

description: A cadherin EGF LAG seven-pass G-type receptor 1 that is encoded in the genome of human.


name: PPR17_HUMAN Protein phosphatase 1 regulatory subunit 17 (sprot)

description: A protein phosphatase 1 regulatory subunit 17 that is encoded in the genome of human.


name: EP300_HUMAN Histone acetyltransferase p300 (sprot)

description: A histone acetyltransferase p300 that is encoded in the genome of human.


name: NFU1_HUMAN NFU1 iron-sulfur cluster scaffold homolog, mitochondrial (sprot)

description: An NFU1 iron-sulfur cluster scaffold, mitochondrial that is encoded in the genome of human.


name: WDR3_HUMAN WD repeat-containing protein 3 (sprot)

description: A WD repeat-containing protein 3 that is encoded in the genome of human.


name: FHAD1_HUMAN Forkhead-associated domain-containing protein 1 (sprot)

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


Hyperplasia of the endometrium

description: A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).


name: THOP1_HUMAN Thimet oligopeptidase (sprot)

description: A thimet oligopeptidase that is encoded in the genome of human.


Hyperketonemia

description: An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.


NEUR4_HUMAN Sialidase-4 (sprot)

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


maculopapular cutaneous mastocytosis

description: Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.


name: COX5A_HUMAN Cytochrome c oxidase subunit 5A, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 5A, mitochondrial that is encoded in the genome of human.


ENRASENTAN

A member of the class of indanes that is 2,3-dihydro-1H-indene which is substituted by a 1,3-benzodioxol-5-yl group, carboxy group, 2-(2-hydroxyethoxy)-4-methoxyphenyl group and a propoxy group at positions 1S, 2R, 3S and 5, respectively. It is an orally active mixed endothelin A/B receptor antagonist with a 100-fold greater affinity for the endothelin A receptor. The drug was being developed by GSK for the treatment of congestive heart failure and pulmonary hypertension (clinical trials discontinued).


name: KBTB8_HUMAN Kelch repeat and BTB domain-containing protein 8 (sprot)

description: A kelch repeat and BTB domain-containing protein 8 that is encoded in the genome of human.


name: FXL15_HUMAN F-box/LRR-repeat protein 15 (sprot)

description: An F-box/LRR-repeat protein 15 that is encoded in the genome of human.


name: CAMP2_HUMAN Calmodulin-regulated spectrin-associated protein 2 (sprot)

description: A calmodulin-regulated spectrin-associated protein 1-like protein 1 that is encoded in the genome of human.


canine glioma

description: A brain or spinal cord tumor arising from glial cells that occurs in dogs.


name: MTR1A_HUMAN Melatonin receptor type 1A (sprot)

description: A melatonin receptor type 1A that is encoded in the genome of human.


name: SYTL4_HUMAN Synaptotagmin-like protein 4 (sprot)

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


congenital hypothyroidism

description: A thyroid hormone deficiency present from birth.


name: PTH_HUMAN Peptidyl-tRNA hydrolase (sprot)

description: A probable peptidyl-tRNA hydrolase PTRH1 that is encoded in the genome of human.


hereditary peripheral neuropathy

description: An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.


name: BMAL2_HUMAN Basic helix-loop-helix ARNT-like protein 2 (sprot)

description: A basic helix-loop-helix ARNT-like protein 2 that is encoded in the genome of human.


Visual impairment

description: Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.


name: UBXN7_HUMAN UBX domain-containing protein 7 (sprot)

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


name: SPNXB_HUMAN Sperm protein associated with the nucleus on the X chromosome B1 (sprot)

description: A sperm protein associated with the nucleus on the X chromosome B1 that is encoded in the genome of human.


granular cell tumor

description: An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.


Abulia

description: Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction.


PGS1_HUMAN Biglycan (sprot)

A biglycan that is encoded in the genome of human.


name: TAF5L_HUMAN TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L (sprot)

description: A TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L that is encoded in the genome of human.


name: BBIP1_HUMAN BBSome-interacting protein 1 (sprot)

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


ristocetin

A heterodetic cyclic peptide  that is produced by species of Amycolatopsis and Nocardia.


tricuspid valve insufficiency

description: The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.


hereditary neoplastic syndrome

description: The inherited predisposition toward getting a tumor.


H1T_HUMAN Histone H1t (sprot)

A histone H1t that is encoded in the genome of human.


Isaac syndrome

description: Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.


LOPERAMIDE HYDROCHLORIDE

A hydrochloride obtained by combining loperamide with one equivalent of hydrochloric acid. Used for treatment of diarrhoea resulting from gastroenteritis or inflammatory bowel disease.


name: SMCR8_HUMAN Guanine nucleotide exchange protein SMCR8 (sprot)

description: A guanine nucleotide exchange protein SMCR8 that is encoded in the genome of human.


name: DPB1_HUMAN HLA class II histocompatibility antigen, DP beta 1 chain (sprot)

description: An MHC class II histocompatibility antigen beta chain DPB1 that is encoded in the genome of human.


central precocious puberty

description: Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).


name: MPP8_HUMAN M-phase phosphoprotein 8 (sprot)

description: An M-phase phosphoprotein 8 that is encoded in the genome of human.


mixed malaria

description: A malaria that involves infection with more than one species of Plasmodium at the same time.


name: NXNL1_HUMAN Nucleoredoxin-like protein 1 (sprot)

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


MUC17_HUMAN Mucin-17 (sprot)

A mucin-17 that is encoded in the genome of human.


name: NMUR2_HUMAN Neuromedin-U receptor 2 (sprot)

description: A neuromedin-U receptor 2 that is encoded in the genome of human.


name: HSF2B_HUMAN Heat shock factor 2-binding protein (sprot)

description: A heat shock factor 2-binding protein that is encoded in the genome of human.


name: SMRD3_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 (sprot)

description: A SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 that is encoded in the genome of human.


name: alveolar capillary dysplasia with misalignment of pulmonary veins

description: A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.


persian gulf syndrome

description: Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)


name: KLF13_HUMAN Krueppel-like factor 13 (sprot)

description: A krueppel-like factor 13 that is encoded in the genome of human.


CMGA_HUMAN Chromogranin-A (sprot)

A chromogranin-A that is encoded in the genome of human.


name: KCNA6_HUMAN Potassium voltage-gated channel subfamily A member 6 (sprot)

description: A voltage-gated potassium channel subunit KCNA6 that is encoded in the genome of human.


Hughes-Stovin syndrome

description: Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.


name: SDHL_HUMAN L-serine dehydratase/L-threonine deaminase (sprot)

description: An L-serine dehydratase/L-threonine deaminase that is encoded in the genome of human.


name: CCBE1_HUMAN Collagen and calcium-binding EGF domain-containing protein 1 (sprot)

description: A collagen and calcium-binding EGF domain-containing protein 1 that is encoded in the genome of human.


name: FGD1_HUMAN FYVE, RhoGEF and PH domain-containing protein 1 (sprot)

description: A FYVE, RhoGEF and PH domain-containing protein 1 that is encoded in the genome of human.


Dieulafoy lesion

description: Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.


name: BMP2K_HUMAN BMP-2-inducible protein kinase (sprot)

description: A BMP-2-inducible protein kinase that is encoded in the genome of human.


vitamin A deficiency

description: Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


D-erythro-isocitric acid

The D-erythro-stereoisomer of isocitric acid.


SALVIGENIN

A trimethoxyflavone that is scutellarein in which the hydroxy groups at positions 4', 6, and 7 are replaced by methoxy groups.


hereditary spastic paraplegia

description: Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.


name: KBTBB_HUMAN Kelch repeat and BTB domain-containing protein 11 (sprot)

description: A kelch repeat and BTB domain-containing protein 11 that is encoded in the genome of human.


H33_HUMAN Histone H3.3 (sprot)

A histone H3.3 that is encoded in the genome of human.


description: Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.


MANUMYCIN A

A polyketide with formula C31H38N2O7 initially isolated from Streptomyces parvulus as a result of a random screening program for farnesyl transferase (FTase) inhibitors. It is a natural product that exhibits anticancer and antibiotic properties.


ACTH-dependent Cushing syndrome

description: Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).


name: FRM4B_HUMAN FERM domain-containing protein 4B (sprot)

description: A FERM domain-containing protein 4B that is encoded in the genome of human.


name: NR2E3_HUMAN Photoreceptor-specific nuclear receptor (sprot)

description: A photoreceptor-specific nuclear receptor that is encoded in the genome of human.


name: GRP4_HUMAN RAS guanyl-releasing protein 4 (sprot)

description: A RAS guanyl-releasing protein 4 that is encoded in the genome of human.


idoxuridine

A pyrimidine 2'-deoxyribonucleoside compound having 5-iodouracil as the nucleobase; used as an antiviral agent.


Osgood-Schlatter disease

description: Osteochondrosis of the growth plate near the tibial tuberosity.


name: ITBP2_HUMAN Integrin beta-1-binding protein 2 (sprot)

description: An integrin beta-1-binding protein 2 that is encoded in the genome of human.


name: BPL1_HUMAN Biotin--protein ligase (sprot)

description: A biotin--protein ligase that is encoded in the genome of human.


muricholic acids

A group of trihydroxy-5beta-cholanic acids that are the 6,7-diastereoisomers of 3alpha,6,7-trihydroxy-5beta-cholan-24-oic acid.


pseudolymphoma

description: A neoplastic process that resembles a malignant lymphoma, but has a benign course.


name: IGSF6_HUMAN Immunoglobulin superfamily member 6 (sprot)

description: An immunoglobulin superfamily member 6 that is encoded in the genome of human.


Premature loss of primary teeth

description: Loss of the primary (also known as deciduous) teeth before the usual age.


May-Thurner syndrome

description: A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.


malignant tumor of nasopharynx

description: A cancer that involves the nasopharynx.


cheilitis glandularis

description: Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.


protein POLR1D, isoform 2 (human)

A POLR1D gene translation product (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P0DPB5-1.


name: THOC2_HUMAN THO complex subunit 2 (sprot)

description: A THO complex subunit 2 that is encoded in the genome of human.


name: BTNL9_HUMAN Butyrophilin-like protein 9 (sprot)

description: A butyrophilin-like protein 9 that is encoded in the genome of human.


name: MYO9B_HUMAN Unconventional myosin-IXb (sprot)

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


name: FABP7_HUMAN Fatty acid-binding protein, brain (sprot)

description: A fatty acid-binding protein, brain that is encoded in the genome of human.


propionyl-CoA

An acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of propionic acid.


Hyperglycinemia

description: An elevated concentration of glycine in the blood.


cough variant asthma

description: An asthma that is characterized by chronic nonproductive cough without shortness of breath.


scopolamine hydrobromide (anhydrous)

A hydrobromide that is obtained by reaction of scopolamine with hydrogen bromide.


name: TMM53_HUMAN Transmembrane protein 53 (sprot)

description: A transmembrane protein 53 that is encoded in the genome of human.


name: SCUB3_HUMAN Signal peptide, CUB and EGF-like domain-containing protein 3 (sprot)

description: A signal peptide, CUB and EGF-like domain-containing protein 3 that is encoded in the genome of human.


renal hypodysplasia/aplasia 1

description: The presence of developmental dysplasia of the kidney.


name: GSE1_HUMAN Genetic suppressor element 1 (sprot)

description: A genetic suppressor element 1 that is encoded in the genome of human.


transient arthritis

description: Arthritis that is not permanent.


CPNE1_HUMAN Copine-1 (sprot)

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


name: RTP3_HUMAN Receptor-transporting protein 3 (sprot)

description: A receptor-transporting protein 3 that is encoded in the genome of human.


perfluorododecanoic acid

A fluoroalkanoic acid that is dodecanoic acid in which all of the hydrogens attached to carbon atoms are replaced by fluorines. It is a highly persistent, bioaccumulative breakdown product of stain- and grease-proof coatings on food packaging, soft furnishings and carpets.


name: PP1RB_HUMAN E3 ubiquitin-protein ligase PPP1R11 (sprot)

description: An E3 ubiquitin-protein ligase PPP1R11 that is encoded in the genome of human.


nongerminomatous germ cell tumor

description: A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.


name: CIAO3_HUMAN Cytosolic iron-sulfur assembly component 3 (sprot)

description: A cytosolic iron-sulfur assembly component 3 that is encoded in the genome of human.


name: PRKRA_HUMAN Interferon-inducible double-stranded RNA-dependent protein kinase activator A (sprot)

description: An interferon-inducible double-stranded RNA-dependent protein kinase activator A that is encoded in the genome of human.


cervical clear cell adenocarcinoma

description: A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).


name: AL4A1_HUMAN Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (sprot)

description: A delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial that is encoded in the genome of human.


name: DAPK3_HUMAN Death-associated protein kinase 3 (sprot)

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


name: PEX26_HUMAN Peroxisome assembly protein 26 (sprot)

description: A peroxisome assembly protein 26 that is encoded in the genome of human.


Polydipsia

description: Excessive thirst manifested by excessive fluid intake.


name: AT7L1_HUMAN Ataxin-7-like protein 1 (sprot)

description: An ataxin-7-like protein 1 that is encoded in the genome of human.


spindle cell sarcoma

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


Hurler syndrome

description: Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.


name: DQA2_HUMAN HLA class II histocompatibility antigen, DQ alpha 2 chain (sprot)

description: An MHC class II histocompatibility antigen alpha chain DQA2 that is encoded in the genome of human.


name: ANM9_HUMAN Protein arginine N-methyltransferase 9 (sprot)

description: A protein arginine N-methyltransferase 9 that is encoded in the genome of human.


GKN2_HUMAN Gastrokine-2 (sprot)

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


name: SBNO2_HUMAN Protein strawberry notch homolog 2 (sprot)

description: A protein strawberry notch homolog 2 that is encoded in the genome of human.


Wolf-Hirschhorn syndrome

description: Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.


name: DUS9_HUMAN Dual specificity protein phosphatase 9 (sprot)

description: A dual specificity protein phosphatase 9 that is encoded in the genome of human.


name: STAR4_HUMAN StAR-related lipid transfer protein 4 (sprot)

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


MIDAZOLAM HYDROCHLORIDE

The hydrochloride salt of midazolam.


name: TI17A_HUMAN Mitochondrial import inner membrane translocase subunit Tim17-A (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim17-A that is encoded in the genome of human.


name: SPTB1_HUMAN Spectrin beta chain, erythrocytic (sprot)

description: A spectrin beta chain, erythrocytic that is encoded in the genome of human.


Metastatic angiosarcoma

description: An angiosarcoma that has spread to another anatomical site.


3,5-dihydroxybenzoic acid

A dihydroxybenzoic acid in which the hydroxy groups are located at positions 3 and 5.


gastric lymphoma

description: An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


name: BL1S2_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 2 (sprot)

description: A biogenesis of lysosome-related organelles complex 1 subunit 2 that is encoded in the genome of human.


name: BORC5_HUMAN BLOC-1-related complex subunit 5 (sprot)

description: A BLOC-1-related complex subunit 5 that is encoded in the genome of human.


heart septal defect

description: A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.


name: epidermolysis bullosa simplex 1A, generalized severe

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.


hypersplenism

description: Overactive functioning of the spleen, resulting in excessive destruction of blood cells.


name: chronic intestinal vascular insufficiency


folliculitis

description: Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.


name: ALKB4_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 (sprot)

description: An alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 that is encoded in the genome of human.


SEMUSTINE

An organochlorine compound that is urea in which the two hydrogens on one of the amino groups are replaced by nitroso and 2-chloroethyl groups and one hydrogen from the other amino group is replaced by a 4-methylcyclohexyl group.


name: SAT2_HUMAN Thialysine N-epsilon-acetyltransferase (sprot)

description: A thialysine N-epsilon-acetyltransferase that is encoded in the genome of human.


mecillinam

A penicillin in which the 6beta substituent is [(azepan-1-yl)methylidene]amino; an extended-spectrum penicillin antibiotic that binds specifically to penicillin binding protein 2 (PBP2), and is only considered to be active against Gram-negative bacteria.


4-methoxycinnamic acid

A methoxycinnamic acid having a single methoxy substituent at the 4-position on the phenyl ring.


antazoline

A member of the class of imidazolines that is 2-aminomethyl-2-imidazoline in which the exocyclic amino hydrogens are replaced by benzyl and phenyl groups. Antazoline is only found in individuals that have taken the drug.


name: S28A2_HUMAN Sodium/nucleoside cotransporter 2 (sprot)

description: A sodium/nucleoside cotransporter 2 that is encoded in the genome of human.


name: GLYR1_HUMAN Cytokine-like nuclear factor N-PAC (sprot)

description: A nuclear protein NP60 that is encoded in the genome of human.


name: TBCD5_HUMAN TBC1 domain family member 5 (sprot)

description: A TBC1 domain family member 5 that is encoded in the genome of human.


name: gastric small cell neuroendocrine carcinoma

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.


name: CLC4C_HUMAN C-type lectin domain family 4 member C (sprot)

description: A C-type lectin domain family 4 member C that is encoded in the genome of human.


Birk-Barel syndrome

description: Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).


name: central retinal vein occlusion with macular edema


description: Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.


pyometritis

description: Inflammation of uterine musculature associated with pus in the uterine cavity.


acute urate nephropathy

description: Urolithiasis in which the composition of the stones is predominantly urate.


pre-descemet corneal dystrophy

description: Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.


name: SSRB_HUMAN Translocon-associated protein subunit beta (sprot)

description: A translocon-associated protein subunit beta that is encoded in the genome of human.


leukodystrophy

description: Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


name: DTL_HUMAN Denticleless protein homolog (sprot)

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


name: DEAF1_HUMAN Deformed epidermal autoregulatory factor 1 homolog (sprot)

description: A deformed epidermal autoregulatory factor 1 that is encoded in the genome of human.


name: TRI56_HUMAN E3 ubiquitin-protein ligase TRIM56 (sprot)

description: An E3 ubiquitin-protein ligase TRIM56 that is encoded in the genome of human.


name: MROH1_HUMAN Maestro heat-like repeat-containing protein family member 1 (sprot)

description: A maestro heat-like repeat-containing protein family member 1 that is encoded in the genome of human.


X-linked reticulate pigmentary disorder

description: X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.


name: MYPC2_HUMAN Myosin-binding protein C, fast-type (sprot)

description: A myosin-binding protein C, fast-type that is encoded in the genome of human.


name: COMD5_HUMAN COMM domain-containing protein 5 (sprot)

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


name: TAC2N_HUMAN Tandem C2 domains nuclear protein (sprot)

description: A tandem C2 domains nuclear protein that is encoded in the genome of human.


name: CLC3A_HUMAN C-type lectin domain family 3 member A (sprot)

description: A C-type lectin domain family 3 member A that is encoded in the genome of human.


name: K2C75_HUMAN Keratin, type II cytoskeletal 75 (sprot)

description: A keratin, type II cytoskeletal 75 that is encoded in the genome of human.


WN10A_HUMAN Protein Wnt-10a (sprot)

A protein Wnt-10a that is encoded in the genome of human.


name: SELO_HUMAN Protein adenylyltransferase SelO, mitochondrial (sprot)

description: A protein adenylyltransferase SelO, mitochondrial that is encoded in the genome of human.


retaspimycin hydrochloride

A hydrochloride that is the monohydrochloride salt of retaspimycin. A semi-synthetic water-soluble analogue of geldanamycin used in cancer treatment.


chondroblastic osteosarcoma

description: An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.


Congenital blindness

description: Blindness with onset at birth.


CADH8_HUMAN Cadherin-8 (sprot)

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


CADH9_HUMAN Cadherin-9 (sprot)

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


name: MAGA2_HUMAN Melanoma-associated antigen 2 (sprot)

description: A melanoma-associated antigen 2 that is encoded in the genome of human.


name: VMA21_HUMAN Vacuolar ATPase assembly integral membrane protein VMA21 (sprot)

description: A vacuolar ATPase assembly integral membrane protein VMA21 that is encoded in the genome of human.


X-linked retinoschisis

description: A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.


name: ZKSC1_HUMAN Zinc finger protein with KRAB and SCAN domains 1 (sprot)

description: A zinc finger protein with KRAB and SCAN domains 1 that is encoded in the genome of human.


phosphatidylcholine (P-18:0/22:6)

A phosphatidylcholine P-40:6 in which the 1-alk-1-enyl group contains 18 carbons and no additional double bonds while the 2-acyl group contains 22 carbons and 6 double bonds.


name: AKA7A_HUMAN A-kinase anchor protein 7 isoforms alpha and beta (sprot)

description: An A-kinase anchor protein 7 (human), isoforms beta and alpha.


cytidine 5'-monophosphate

A pyrimidine ribonucleoside 5'-monophosphate having cytosine as the nucleobase.


name: PSA1_HUMAN Proteasome subunit alpha type-1 (sprot)

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


name: CENPX_HUMAN Centromere protein X (sprot)

description: A stimulated by retinoic acid gene 13 protein that is encoded in the genome of human.


name: MCU_HUMAN Calcium uniporter protein, mitochondrial (sprot)

description: A calcium uniporter protein, mitochondrial that is encoded in the genome of human.


name: RUSC2_HUMAN AP-4 complex accessory subunit RUSC2 (sprot)

description: An AP-4 complex accessory subunit RUSC2 that is encoded in the genome of human.


name: CHD8_HUMAN Chromodomain-helicase-DNA-binding protein 8 (sprot)

description: A chromodomain-helicase-DNA-binding protein 8 that is encoded in the genome of human.