long COVID-19

description: A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.


prednisolone sodium phosphate

A synthetic glucocorticoid resulting from the formal condensation of the 21-hydroxy group of prednisolone with one of the hydroxy groups of phosphoric acid. It is a prodrug for prednisolone that is activated in vivo by phosphatases.


name: TTLL4_HUMAN Tubulin monoglutamylase TTLL4 (sprot)

description: A tubulin monoglutamylase TTLL4 that is encoded in the genome of human.


hyperargininemia

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

description: Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


mastocytosis

description: A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.


mycetoma

description: Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.


name: PTTG3_HUMAN Putative pituitary tumor-transforming gene 3 protein (sprot)

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


Potocki-Lupski syndrome

description: 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.


name: PDE8B_HUMAN High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B (sprot)

description: A high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B that is encoded in the genome of human.


name: CLC4K_HUMAN C-type lectin domain family 4 member K (sprot)

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


Her2-receptor negative breast cancer

description: A breast adenocarcinoma that is negative for the expression of the HER2 receptor.


name: MTCL2_HUMAN Microtubule cross-linking factor 2 (sprot)

description: A microtubule cross-linking factor 2 that is encoded in the genome of human.


name: CPEB4_HUMAN Cytoplasmic polyadenylation element-binding protein 4 (sprot)

description: A cytoplasmic polyadenylation element-binding protein 4 that is encoded in the genome of human.


cefminox

A second-generation cephamycin antibiotic having [(1-methyl-1H-tetrazol-5-yl)sulfanyl]methyl and 2-{[(2S)-2-amino-2-carboxyethyl]sulfanyl}acetamido side-groups located respectively at positions 3 and 7beta of the cephem nucleus. A broad-spectrum bactericide, it is especially effective against Gram-negative and anaerobic bacteria.


sodium gluconate

An organic sodium salt having D-gluconate as the counterion.


name: NCEH1_HUMAN Neutral cholesterol ester hydrolase 1 (sprot)

description: A neutral cholesterol ester hydrolase 1 that is encoded in the genome of human.


acinar cell carcinoma

description: A carcinoma that arises from epithelial cells of the acinar cell


name: ADAP1_HUMAN Arf-GAP with dual PH domain-containing protein 1 (sprot)

description: An Arf-GAP with dual PH domain-containing protein 1 that is encoded in the genome of human.


myoepithelial tumor

description: A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.


name: T132B_HUMAN Transmembrane protein 132B (sprot)

description: A transmembrane protein 132B that is encoded in the genome of human.


name: WFKN2_HUMAN WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 (sprot)

description: A WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 that is encoded in the genome of human.


Epigastric pain

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

description: Pain that is localized to the region of the upper abdomen immediately below the ribs.


name: GPVI_HUMAN Platelet glycoprotein VI (sprot)

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


pancreatic adenosquamous carcinoma

description: A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.


conjunctival intraepithelial neoplasm

description: A precancerous neoplastic intraepithelial process involving the conjunctival squamous epithelium.


name: TSSC4_HUMAN U5 small nuclear ribonucleoprotein TSSC4 (sprot)

description: A U5 small nuclear ribonucleoprotein TSSC4 that is encoded in the genome of human.


name: ZIC4_HUMAN Zinc finger protein ZIC 4 (sprot)

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


name: KIF1C_HUMAN Kinesin-like protein KIF1C (sprot)

description: A kinesin-like protein KIF1C that is encoded in the genome of human.


atrophic glossitis

description: Glossy appearance of the entire tongue surface.


GSDMB_HUMAN Gasdermin-B (sprot)

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


SOBLIDOTIN

A tetrapeptide derivative of dolastatin 10. It is an inhibitor of tubulin polymerization which exhibits potent antitumor activity.


name: PI3R6_HUMAN Phosphoinositide 3-kinase regulatory subunit 6 (sprot)

description: A phosphoinositide 3-kinase regulatory subunit 6 that is encoded in the genome of human.


name: O51E2_HUMAN Olfactory receptor 51E2 (sprot)

description: An olfactory receptor 51E2 that is encoded in the genome of human.


phosphatidylethanolamine (17:1/18:1)

A phosphatidylethanolamine 35:2 in which the acyl group at C-1 contains 17 carbons and 1 double bond while that at C-2 contains 18 carbons and 1 double bond.


name: PEBP4_HUMAN Phosphatidylethanolamine-binding protein 4 (sprot)

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


name: SP16H_HUMAN FACT complex subunit SPT16 (sprot)

description: A FACT complex subunit SPT16 that is encoded in the genome of human.


name: OXA1L_HUMAN Mitochondrial inner membrane protein OXA1L (sprot)

description: A mitochondrial inner membrane protein OXA1L that is encoded in the genome of human.


name: RM45_HUMAN Large ribosomal subunit protein mL45 (sprot)

description: A large ribosomal subunit protein mL45 that is encoded in the genome of human.


Hendra virus infection

description: Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.


name: MEF2B_HUMAN Myocyte-specific enhancer factor 2B (sprot)

description: A myocyte-specific enhancer factor 2B that is encoded in the genome of human.


name: SPAT2_HUMAN Spermatogenesis-associated protein 2 (sprot)

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


name: FBXW2_HUMAN F-box/WD repeat-containing protein 2 (sprot)

description: An F-box/WD repeat-containing protein 2 that is encoded in the genome of human.


arachidonate

A long-chain fatty acid anion resulting from the removal of a proton from the carboxy group of arachidonic acid.


amenorrhea

description: The absence of menses in a woman who has achieved reproductive age.


name: PAQR4_HUMAN Progestin and adipoQ receptor family member 4 (sprot)

description: A progestin and adipoQ receptor family member 4 that is encoded in the genome of human.


name: UBP6_HUMAN Ubiquitin carboxyl-terminal hydrolase 6 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 6 that is encoded in the genome of human.


Recurrent deep vein thrombosis

description: Repeated episodes of the formation of a blot clot in a deep vein.


name: HMGN5_HUMAN High mobility group nucleosome-binding domain-containing protein 5 (sprot)

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


PCDH9_HUMAN Protocadherin-9 (sprot)

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


name: PCDA9_HUMAN Protocadherin alpha-9 (sprot)

description: A protocadherin alpha-9 that is encoded in the genome of human.


name: IMPG2_HUMAN Interphotoreceptor matrix proteoglycan 2 (sprot)

description: An interphotoreceptor matrix proteoglycan 2 that is encoded in the genome of human.


PHENYLACETALDEHYDE

An aldehyde that consists of acetaldehyde bearing a methyl substituent; the parent member of the phenylacetaldehyde class of compounds.


Abnormal embryonic development

description: An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.


name: HNRPQ_HUMAN Heterogeneous nuclear ribonucleoprotein Q (sprot)

description: A heterogeneous nuclear ribonucleoprotein Q that is encoded in the genome of human.


A 1-acyl-sn-glycerol that has octadecanoyl (stearoyl) as the 1-acyl group.


Kearns-Sayre syndrome

description: Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.


DIHYDROFOLIC ACID

A folic acid derivative acted upon by dihydrofolate reductase to produce tetrahydrofolic acid. It interacts with bacteria during cell division and is targeted by various drugs to prevent nucleic acid synthesis.


name: LMBR1_HUMAN Limb region 1 protein homolog (sprot)

description: A limb region 1 protein that is encoded in the genome of human.


NETR_HUMAN Neurotrypsin (sprot)

A neurotrypsin that is encoded in the genome of human.


A C6 alkane-alpha,omega-diamine.


name: S39A2_HUMAN Zinc transporter ZIP2 (sprot)

description: A zinc transporter ZIP2 that is encoded in the genome of human.


central core myopathy

description: An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.


name: FCRL1_HUMAN Fc receptor-like protein 1 (sprot)

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


11-cis-retinoic acid

The 11-cis-isomer of retinoic acid.


Hemoptysis

description: Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.


central nervous system teratoma

description: A mature or immature teratoma that affects the central nervous system.


name: SKOR1_HUMAN SKI family transcriptional corepressor 1 (sprot)

description: A ladybird homeobox corepressor 1 that is encoded in the genome of human.


angiokeratoma

description: A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).


name: TRA2A_HUMAN Transformer-2 protein homolog alpha (sprot)

description: A transformer-2 protein homolog alpha that is encoded in the genome of human.


stearyl palmitate

A palmitate ester resulting from the formal condensation of the carboxy group of palmitic acid with the hydroxy group of stearyl alcohol.


NIMUSTINE HYDROCHLORIDE

A hydrochloride obtained by combining nimustine with one equivalent of hydrochloric acid. An antineoplastic agent especially effective against malignant brain tumors.


name: CHST5_HUMAN Carbohydrate sulfotransferase 5 (sprot)

description: A carbohydrate sulfotransferase 5 that is encoded in the genome of human.


Nummular eczema

description: A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet


LUMICHROME

A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution.


A 1,2,3,4-tetrahydroisoquinoline hacing chloro substituents at the 7- and 8-positions.


proglumide

A racemate composed of equal amounts of (R)- and (S)-proglumide. A non-selective CCK antagonist that was used primarily for treatment of stomach ulcers, but has been replaced by newer drugs.


familial ovarian cancer

description: An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.


MMRN1_HUMAN Multimerin-1 (sprot)

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


spastic hemiplegia

description: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


polycystic kidney disease 1

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.


bevantolol

A propanolamine that is 3-aminopropane-1,2-diol in which the hydrogen of the primary hydroxy group is substituted by 3-methylphenyl and one of the hydrogens attached to the nitrogen is substituted by 2-(3,4-dimethoxyphenyl)ethyl. A beta1 adrenoceptor antagonist, it has been shown to be as effective as other beta-blockers for the treatment of angina pectoris and hypertension.


MAL2_HUMAN Protein MAL2 (sprot)

A protein MAL2 that is encoded in the genome of human.


dichloroacetate

A monocarboxylic acid anion that is the conjugate base of dichloroacetic acid.


THIOCTIC ACID AMIDE

A monocarboxylic acid amide resulting from the formal condensation of the carboxy group of lipoic acid with ammonia.


corneal dystrophy

description: The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.


name: UN93B_HUMAN Protein unc-93 homolog B1 (sprot)

description: A protein unc-93 homolog B1 that is encoded in the genome of human.


name: EI24_HUMAN Etoposide-induced protein 2.4 homolog (sprot)

description: An etoposide-induced protein 2.4 that is encoded in the genome of human.


adenoiditis

description: An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


name: TET5B_HUMAN Terminal nucleotidyltransferase 5B (sprot)

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


Hypofibrinogenemia

description: Decreased concentration of fibrinogen in the blood.


name: SIA8C_HUMAN Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3 (sprot)

description: A sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase that is encoded in the genome of human.


A mismatched double-stranded RNA with one strand being a polymer of inosinic acid, the other a polymer of cytidylic acid.


zaleplon

A pyrazolo[1,5-a]pyrimidine having a nitrile group at position 3 and a 3-(N-ethylacetamido)phenyl substituent at the 7-position.


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


name: DNJC1_HUMAN DnaJ homolog subfamily C member 1 (sprot)

description: A DnaJ homolog subfamily C member 1 that is encoded in the genome of human.


name: M3K21_HUMAN Mitogen-activated protein kinase kinase kinase 21 (sprot)

description: A mitogen-activated protein kinase kinase kinase 21 that is encoded in the genome of human.


name: MFSD8_HUMAN Major facilitator superfamily domain-containing protein 8 (sprot)

description: A major facilitator superfamily domain-containing protein 8 that is encoded in the genome of human.


mucopolysaccharidosis type 3

description: Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration.


name: ATP5L_HUMAN ATP synthase subunit g, mitochondrial (sprot)

description: An ATP synthase subunit g, mitochondrial that is encoded in the genome of human.


emodepside

A cyclooctadepsipeptide consisting of  D-lactoyl, N-methyl-L-leucyl, 3-[4-(4-morpholinyl)phenyl]-D-lactoyl, N-methyl-L-leucyl, D-lactoyl, N-methyl-L-leucyl, 3-[4-(4-morpholinyl)phenyl]-D-lactoyl, and N-methyl-L-leucyl residues joined in sequence to give a 24-membered macrocycle. An anthelmintic, it is used with praziquantel for the treatment and control of hookworm, roundworm and tapeworm infections in cats.


CCNT2_HUMAN Cyclin-T2 (sprot)

A cyclin-T2 that is encoded in the genome of human.


ammonium nitrate

The ammonium salt of nitric acid.


name: SUV92_HUMAN Histone-lysine N-methyltransferase SUV39H2 (sprot)

description: A histone-lysine N-methyltransferase SUV39H2 that is encoded in the genome of human.


TRAMIPROSATE

An amino sulfonic acid that is the 3-amino derivative of propanesulfonic acid.


Alzheimer disease 18

description: Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.


name: WDTC1_HUMAN WD and tetratricopeptide repeats protein 1 (sprot)

description: A WD and tetratricopeptide repeats protein 1 that is encoded in the genome of human.


SNX33_HUMAN Sorting nexin-33 (sprot)

A sorting nexin-33 that is encoded in the genome of human.


name: SIN3B_HUMAN Paired amphipathic helix protein Sin3b (sprot)

description: A paired amphipathic helix protein Sin3b that is encoded in the genome of human.


name: XRRA1_HUMAN X-ray radiation resistance-associated protein 1 (sprot)

description: An X-ray radiation resistance-associated protein 1 that is encoded in the genome of human.


name: NP1L5_HUMAN Nucleosome assembly protein 1-like 5 (sprot)

description: A nucleosome assembly protein 1-like 5 that is encoded in the genome of human.


name: GCP5_HUMAN Gamma-tubulin complex component 5 (sprot)

description: A gamma-tubulin complex component 5 that is encoded in the genome of human.


vasomotor rhinitis

description: Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.


A para-terphenyl that is the 3-hydroxy derivative of  terphenyllin. It has been isolated from Aspergillus taichungensis.


D-glutamine

The D-enantiomer of glutamine.


name: GALE_HUMAN UDP-glucose 4-epimerase (sprot)

description: A UDP-glucose 4-epimerase that is encoded in the genome of human.


name: CCG7_HUMAN Voltage-dependent calcium channel gamma-7 subunit (sprot)

description: A voltage-dependent calcium channel gamma-7 subunit that is encoded in the genome of human.


grasshopper ketone

A member of the class of allenes that is cyclohexane substituted by 3-oxobut-1-en-1-ylidene, methyl, hydroxy, hydroxy, methyl and methyl groups at positions 1, 2, 2, 4, 6 and 6, respectively (the 2R,3R,4S-stereoisomer). It is isolated from the grasshopper, Romalea microptera.


name: UHRF2_HUMAN E3 ubiquitin-protein ligase UHRF2 (sprot)

description: An E3 ubiquitin-protein ligase UHRF2 that is encoded in the genome of human.


Cleft maxillary alveolar ridge

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


disseminated peritoneal leiomyomatosis

description: A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.


name: UHMK1_HUMAN Serine/threonine-protein kinase Kist (sprot)

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


name: LNX1_HUMAN E3 ubiquitin-protein ligase LNX (sprot)

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


name: DRC8_HUMAN Dynein regulatory complex protein 8 (sprot)

description: A dynein regulatory complex protein 8 that is encoded in the genome of human.


NAV3_HUMAN Neuron navigator 3 (sprot)

A neuron navigator 3 that is encoded in the genome of human.


name: DKKL1_HUMAN Dickkopf-like protein 1 (sprot)

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


BETA-NAPHTOIC ACID

A naphthoic acid that is naphthalene carrying a carboxy group at position 2.


name: CAPON_HUMAN Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (sprot)

description: A carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein that is encoded in the genome of human.


name: CEP57_HUMAN Centrosomal protein of 57 kDa (sprot)

description: A centrosomal protein of 57 kDa that is encoded in the genome of human.


silanol

The simplest silanol, consisting of a single silicon atom covalently bouund to three hydrogens and a hydroxy group.


name: LAT3_HUMAN Large neutral amino acids transporter small subunit 3 (sprot)

description: A large neutral amino acids transporter small subunit 3 that is encoded in the genome of human.


OPN3_HUMAN Opsin-3 (sprot)

An encephalopsin that is encoded in the genome of human.


name: EXOS3_HUMAN Exosome complex component RRP40 (sprot)

description: An exosome complex component RRP40 that is encoded in the genome of human.


neuroepithelioma

description: Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.


anaplastic meningioma

description: A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).


ATRN_HUMAN Attractin (sprot)

An attractin that is encoded in the genome of human.


CTNA1_HUMAN Catenin alpha-1 (sprot)

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


PHENAZINE-1-CARBOXYLIC ACID

An aromatic carboxylic acid that is phenazine substituted at C-1 with a carboxy group.


sulfobromophthalein

An organosulfonic acid that consists of phthalide bearing four bromo substituents at positions 4, 5, 6 and 7 as well as two 4-hydroxy-3-sulfophenyl groups both located at position 1.


name: GOGA1_HUMAN Golgin subfamily A member 1 (sprot)

description: A golgin subfamily A member 1 that is encoded in the genome of human.


FLAVONOL

A monohydroxyflavone that is the 3-hydroxy derivative of flavone.


SYT11_HUMAN Synaptotagmin-11 (sprot)

A synaptotagmin-11 that is encoded in the genome of human.


name: PWP2_HUMAN Periodic tryptophan protein 2 homolog (sprot)

description: A periodic tryptophan protein 2 that is encoded in the genome of human.


SNX4_HUMAN Sorting nexin-4 (sprot)

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


scutellarin

The glycosyloxyflavone which is the 7-O-glucuronide of scutellarein.


Vocal cord dysfunction

description: Any functional anomaly of the vocal cord.


name: LST1_HUMAN Leukocyte-specific transcript 1 protein (sprot)

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


name: ACBD5_HUMAN Acyl-CoA-binding domain-containing protein 5 (sprot)

description: An acyl-CoA-binding domain-containing protein 5 that is encoded in the genome of human.


PRM2_HUMAN Protamine-2 (sprot)

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


central neurocytoma

description: Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.


name: autosomal dominant progressive nephropathy with hypertension


name: SYIM_HUMAN Isoleucine--tRNA ligase, mitochondrial (sprot)

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


lymphosarcoma

description: An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.


name: PPID_HUMAN Peptidyl-prolyl cis-trans isomerase D (sprot)

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


name: primary cutaneous diffuse large B-cell lymphoma, Leg type

description: An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.


posterior cortical atrophy

description: Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.


Leg dystonia

description: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.


CILASTATIN SODIUM

The monosodium salt of cilastatin. It is an inhibitor of dehydropeptidase I (membrane dipeptidase, 3.4.13.19), an enzyme found in the brush border of renal tubes and responsible for degrading the antibiotic imipenem. Cilastatin sodium is therefore administered with imipenem to prolong the antibacterial effect of the latter by preventing its renal metabolism to microbiologically inactive and potentially nephrotoxic products.


anthraquinone-2,6-disulfonic acid

A member of the class of anthraquinones that is 9,10-anthraquinone substituted at positions 2 and 6 by sulfo groups.


name: 5NTC_HUMAN Cytosolic purine 5'-nucleotidase (sprot)

description: A cytosolic purine 5'-nucleotidase that is encoded in the genome of human.


name: TRI52_HUMAN E3 ubiquitin-protein ligase TRIM52 (sprot)

description: An E3 ubiquitin-protein ligase TRIM52 that is encoded in the genome of human.


name: RNS13_HUMAN Probable inactive ribonuclease-like protein 13 (sprot)

description: A ribonuclease-like protein 13 that is encoded in the genome of human.


betahistine

An aminoalkylpyridine that is pyridine substituted by a 2-(methylamino)ethyl group at position 2. It acts as a histamine agonist and a vasodilator, and is thought to improve the microcirculation of the labyrinth, resulting in reduced endolymphatic pressure. It is used (generally as the hydrochloride or mesylate salt) to reduce the symptoms of vertigo, tinnitus, and hearing loss associated with Meniere's disease.


name: SPTN5_HUMAN Spectrin beta chain, non-erythrocytic 5 (sprot)

description: A spectrin beta chain, non-erythrocytic 5 that is encoded in the genome of human.


name: TMC2_HUMAN Transmembrane channel-like protein 2 (sprot)

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


anal gland adenocarcinoma

description: An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.


name: SSDH_HUMAN Succinate-semialdehyde dehydrogenase, mitochondrial (sprot)

description: A succinate-semialdehyde dehydrogenase, mitochondrial that is encoded in the genome of human.


ACY2_HUMAN Aspartoacylase (sprot)

An aspartoacylase that is encoded in the genome of human.


gestational ovarian choriocarcinoma

description: A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.


name: VGLL3_HUMAN Transcription cofactor vestigial-like protein 3 (sprot)

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


name: SPSB4_HUMAN SPRY domain-containing SOCS box protein 4 (sprot)

description: A SPRY domain-containing SOCS box protein 4 that is encoded in the genome of human.


name: EVC_HUMAN EvC complex member EVC (sprot)

description: An EvC complex member EVC that is encoded in the genome of human.


name: DEXI_HUMAN Dexamethasone-induced protein (sprot)

description: A dexamethasone-induced protein that is encoded in the genome of human.


papillary carcinoma

description: A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.


name: murine acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.


Gastrointestinal angiodysplasia

description: Dysplasia affecting the vasculature of the gastrointestinal tract.


NIN_HUMAN Ninein (sprot)

A ninein that is encoded in the genome of human.


name: ARL4C_HUMAN ADP-ribosylation factor-like protein 4C (sprot)

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


nervous system injury

description: Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.


pipobroman

An N-acylpiperazine that is piperazine in which each of the nitrogens has been acylated by a 3-bromopropionoyl group. An anti-cancer drug.


neoplasm of neck

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


name: GET4_HUMAN Golgi to ER traffic protein 4 homolog (sprot)

description: A Golgi to ER traffic protein 4 homolog that is encoded in the genome of human.


name: TNF6B_HUMAN Tumor necrosis factor receptor superfamily member 6B (sprot)

description: A tumor necrosis factor receptor superfamily member 6B that is encoded in the genome of human.


name: RDH12_HUMAN Retinol dehydrogenase 12 (sprot)

description: A retinol dehydrogenase 12 that is encoded in the genome of human.


Iris atrophy

description: Loss of iris tissue (atrophy)


name: OST4_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 that is encoded in the genome of human.


LXN_HUMAN Latexin (sprot)

A latexin that is encoded in the genome of human.


hereditary hypophosphatemic rickets

description: Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.


name: GBRG3_HUMAN Gamma-aminobutyric acid receptor subunit gamma-3 (sprot)

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


rolitetracycline

A derivative of tetracycline in which the amide function is substituted with a pyrrolidinomethyl group.


name: LYPL1_HUMAN Lysophospholipase-like protein 1 (sprot)

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


name: OGFR_HUMAN Opioid growth factor receptor (sprot)

description: An opioid growth factor receptor that is encoded in the genome of human.


gonadal dysgenesis

description: A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.


A dichlorobenzene carrying chloro substituents at positions 1 and 2.


name: SKDA1_HUMAN SKI/DACH domain-containing protein 1 (sprot)

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


A trichothecene mycotoxin that is deoxynivalenol acetylated on the oxygen at C-3. A skin and eye irritant, along with its 15-acetyl regioisomer and its parent deoxynivalenol it is considered among the most commonly and widely distributed cereal contaminants.


autoimmune enteropathy

description: Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.


name: PYRD_HUMAN Dihydroorotate dehydrogenase (quinone), mitochondrial (sprot)

description: A dihydroorotate dehydrogenase (quinone), mitochondrial that is encoded in the genome of human.


MYH7B_HUMAN Myosin-7B (sprot)

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


thymic epithelial neoplasm

description: An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.


juvenile nasopharyngeal angiofibroma

description: Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.


MUC21_HUMAN Mucin-21 (sprot)

A mucin-21 that is encoded in the genome of human.


brain-lung-thyroid syndrome

description: Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).


Pancreatic alpha-cell hyperplasia

description: A diffuse and specific increase in the number of alpha-cells.


epidermoid cysts

description: The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.


Mesangial hypercellularity

description: Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.


Shoulder pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.


name: K2C72_HUMAN Keratin, type II cytoskeletal 72 (sprot)

description: A keratin, type II cytoskeletal 72 that is encoded in the genome of human.


diethylpropion

An  aromatic ketone that is propiophenone in which one of the hydrogens alpha- to the carbonyl is substituted by a diethylamino group. A central stimulant and indirect-acting sympathomimetic, it is an appetite depressant and is used as the hydrochloride as an anoretic in the short term management of obesity.


name: HTRA3_HUMAN Serine protease HTRA3 (sprot)

description: A serine protease HTRA3 that is encoded in the genome of human.


name: EID1_HUMAN EP300-interacting inhibitor of differentiation 1 (sprot)

description: An EP300-interacting inhibitor of differentiation 1 that is encoded in the genome of human.


dihydropteridine reductase deficiency

description: Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.


name: SH3Y1_HUMAN SH3 domain-containing YSC84-like protein 1 (sprot)

description: An SH3 domain-containing YSC84-like protein 1 that is encoded in the genome of human.


name: SRCH_HUMAN Sarcoplasmic reticulum histidine-rich calcium-binding protein (sprot)

description: A sarcoplasmic reticulum histidine-rich calcium-binding protein that is encoded in the genome of human.


firocoxib

An enol ether that is the cyclopropylmethyl ether of 3-hydroxy-5,5-dimethyl-4-[4-(methylsulfonyl)phenyl]furan-2-one. A selective cyclooxygenase 2 inhibitor, it is used in veterinary medicine for the control of pain and inflammation associated with osteoarthritis in horses and dogs.


name: KLH31_HUMAN Kelch-like protein 31 (sprot)

description: A kelch-like protein 31 that is encoded in the genome of human.


name: FBX30_HUMAN F-box only protein 30 (sprot)

description: An F-box only protein 30 that is encoded in the genome of human.


name: ABCF3_HUMAN ATP-binding cassette sub-family F member 3 (sprot)

description: An ATP-binding cassette sub-family F member 3 that is encoded in the genome of human.


WN10B_HUMAN Protein Wnt-10b (sprot)

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


sebaceous adenoma

description: A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.


name: RNAS9_HUMAN Inactive ribonuclease-like protein 9 (sprot)

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


ganglioside GM1

A sialotetraosylceramide consisting of a branched pentasaccharide made up from one sialyl residue, two galactose residues, one N-acetylgalactosamine residue and a glucose residue at the reducing end attached to N-stearoylsphingosine via a beta-linkage.


name: RAP2B_HUMAN Ras-related protein Rap-2b (sprot)

description: A Ras-related protein Rap-2b that is encoded in the genome of human.


CAD12_HUMAN Cadherin-12 (sprot)

A cadherin-12 that is encoded in the genome of human.


name: NBPFF_HUMAN Neuroblastoma breakpoint family member 15 (sprot)

description: A neuroblastoma breakpoint family member 15 that is encoded in the genome of human.


abetalipoproteinemia

description: Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.


name: DUS22_HUMAN Dual specificity protein phosphatase 22 (sprot)

description: A dual specificity protein phosphatase 22 that is encoded in the genome of human.


An N-acyl-beta-D-galactosylsphingosine having a sulfo group at the 3-position on the galactose ring and (15Z)-tetracos-15-enoyl as the N-acyl group.


clear cell meningioma

description: A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.


name: RIMS4_HUMAN Regulating synaptic membrane exocytosis protein 4 (sprot)

description: A regulating synaptic membrane exocytosis protein 4 that is encoded in the genome of human.


CBPA2_HUMAN Carboxypeptidase A2 (sprot)

A carboxypeptidase A2 that is encoded in the genome of human.


long QT syndrome 3

description: An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


Sjogren-Larsson syndrome

description: A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.


chronic endometritis

description: A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.


atogepant

A secondary carboxamide resulting from the formal condensation of the carboxy group of (3'S)-2'-oxo-1',2',5,7-tetrahydrospiro[cyclopenta[b]pyridine-6,3'-pyrrolo[2,3-b]pyridine]-3-carboxylic acid with the amino group of (3S,5S,6R)-3-amino-6-methyl-1-(2,2,2-trifluoroethyl)-5-(2,3,6-trifluorophenyl)piperidin-2-one. It is a selective oral, small-molecule antagonist of calcitonin gene-related peptide (CGRP) receptor that has been approved for the treatment of migraine.


name: SAMD7_HUMAN Sterile alpha motif domain-containing protein 7 (sprot)

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


name: PHC2_HUMAN Polyhomeotic-like protein 2 (sprot)

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


name: AOC2_HUMAN Amine oxidase [copper-containing] 2 (sprot)

description: A retina-specific copper amine oxidase that is encoded in the genome of human.


sympathetic ophthalmia

description: Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.


esophagus leiomyoma

description: A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.


name: DNJB8_HUMAN DnaJ homolog subfamily B member 8 (sprot)

description: A DnaJ homolog subfamily B member 8 that is encoded in the genome of human.


name: SULF1_HUMAN Extracellular sulfatase Sulf-1 (sprot)

description: An extracellular sulfatase Sulf-1 that is encoded in the genome of human.


name: BAZ1B_HUMAN Tyrosine-protein kinase BAZ1B (sprot)

description: A bromodomain adjacent to zinc finger domain protein 1B that is encoded in the genome of human.


Acidemia

description: An abnormally low blood pH (usually defined as less than 7.35).


laryngeal sarcoma

description: A rare malignant soft tissue neoplasm that arises from the larynx.


cannabinoid hyperemesis syndrome

description: A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.


name: ACATN_HUMAN Acetyl-coenzyme A transporter 1 (sprot)

description: An acetyl-coenzyme A transporter 1 that is encoded in the genome of human.


name: qualitative or quantitative defects of dysferlin


trioxsalen

7H-Furo[3,2-g]chromen-7-one in which positions 2, 5, and 9 are substituted by methyl groups. Like other psoralens, trioxsalen causes photosensitization of the skin. It is administered orally in conjunction with UV-A for phototherapy treatment of vitiligo. After photoactivation it creates interstrand cross-links in DNA, inhibiting DNA synthesis and cell division, and can lead to cell injury; recovery from the cell injury may be followed by increased melanisation of the epidermis.


name: FUCO_HUMAN Tissue alpha-L-fucosidase (sprot)

description: A tissue alpha-L-fucosidase that is encoded in the genome of human.


name: ODPB_HUMAN Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (sprot)

description: A pyruvate dehydrogenase E1 component subunit beta, mitochondrial that is encoded in the genome of human.


name: PEX6_HUMAN Peroxisomal ATPase PEX6 (sprot)

description: A peroxisomal ATPase PEX6 that is encoded in the genome of human.


name: digestive system neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).


name: KCND1_HUMAN Potassium voltage-gated channel subfamily D member 1 (sprot)

description: A voltage-gated potassium channel KCND1 that is encoded in the genome of human.


name: TAAR5_HUMAN Trace amine-associated receptor 5 (sprot)

description: A trace amine-associated receptor 5 that is encoded in the genome of human.


name: HOOK3_HUMAN Protein Hook homolog 3 (sprot)

description: A protein Hook homolog 3 that is encoded in the genome of human.


ANX11_HUMAN Annexin A11 (sprot)

An annexin A11 that is encoded in the genome of human.


name: SPCS3_HUMAN Signal peptidase complex subunit 3 (sprot)

description: A signal peptidase complex subunit 3 that is encoded in the genome of human.


name: BICD2_HUMAN Protein bicaudal D homolog 2 (sprot)

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


name: CRADD_HUMAN Death domain-containing protein CRADD (sprot)

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


DOP2_HUMAN Protein dopey-2 (sprot)

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


renal tubular dysgenesis

description: Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.


name: inherited fatty acid metabolism disorder

description: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.


name: TRM5_HUMAN tRNA (guanine(37)-N1)-methyltransferase (sprot)

description: A tRNA (guanine-N(1)-)-methyltransferase that is encoded in the genome of human.


name: SC61G_HUMAN Protein transport protein Sec61 subunit gamma (sprot)

description: A protein transport protein Sec61 subunit gamma that is encoded in the genome of human.


name: ULBP6_HUMAN UL16-binding protein 6 (sprot)

description: A UL16-binding protein 6 that is encoded in the genome of human.


name: AP180_HUMAN Clathrin coat assembly protein AP180 (sprot)

description: A clathrin coat assembly protein AP180 that is encoded in the genome of human.


name: CRIP3_HUMAN Cysteine-rich protein 3 (sprot)

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


name: CDCA2_HUMAN Cell division cycle-associated protein 2 (sprot)

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


bepridil hydrochloride

The hydrochloride of bepridil.


trenbolone

A 3-oxo-Delta(4) steroid that is estra-4,9,11-triene carrying an oxo group at position 3 and a hydroxy group at position 17beta. It is a synthetic anabolic steroid used for muscle growth in livestock.


PREDNISOLONE SODIUM SUCCINATE

The organic sodium salt of prednisolone succinate.


Cochlear degeneration

description: Deterioration or loss of the tissues of the cochlea.


endocardial fibroelastosis

description: Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.


name: STEA2_HUMAN Metalloreductase STEAP2 (sprot)

description: A metalloreductase STEAP2 that is encoded in the genome of human.


name: CGL_HUMAN Cystathionine gamma-lyase (sprot)

description: A cystathionine gamma-lyase that is encoded in the genome of human.


name: CDKL5_HUMAN Cyclin-dependent kinase-like 5 (sprot)

description: A cyclin-dependent kinase-like 5 that is encoded in the genome of human.


mixed neoplasm

description: A neoplasm composed of at least two distinct cellular populations.


chronic cystitis

description: Recurrent infections of the urinary bladder.


METHYLHYDROQUINONE

A member of the class of hydroquinones that is hydroquinone in which one of the benzene hydrogens has been replaced by a methyl group.


CAN8_HUMAN Calpain-8 (sprot)

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


name: PF21B_HUMAN PHD finger protein 21B (sprot)

description: A PHD finger protein 21B that is encoded in the genome of human.


name: OCEL1_HUMAN Occludin/ELL domain-containing protein 1 (sprot)

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


MEMANTINE HYDROCHLORIDE

A hydrochloride obtained by reaction of memantine with one equivalent of hydrochloric acid. A low to moderate affinity uncompetitive (open-channel); NMDA receptor antagonist which binds preferentially to the NMDA receptor-operated cation channels.


name: LYAR_HUMAN Cell growth-regulating nucleolar protein (sprot)

description: A cell growth-regulating nucleolar protein that is encoded in the genome of human.


name: SAP18_HUMAN Histone deacetylase complex subunit SAP18 (sprot)

description: A histone deacetylase complex subunit SAP18 that is encoded in the genome of human.


name: Abnormal cardiovascular system morphology

description: Any structural anomaly of the heart and blood vessels.


name: KLH36_HUMAN Kelch-like protein 36 (sprot)

description: A kelch-like protein 36 that is encoded in the genome of human.


familial hyperlipidemia

description: An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.


name: TLE7_HUMAN Transducin-like enhancer protein 7 (sprot)

description: A protein that is a translation product of the TLE7 gene in human.


glutaramic acid

A dicarboxylic acid monoamide that is formally derived from glutaric acid by conversion of one of the two carboxylic acid groups to the corresponding amide.


empty sella syndrome

description: Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.


name: TNIK_HUMAN TRAF2 and NCK-interacting protein kinase (sprot)

description: A TRAF2 and NCK-interacting protein kinase that is encoded in the genome of human.


kidney sarcoma

description: A sarcoma involving a kidney.


severe hemophilia B

description: Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


anaplastic oligoastrocytoma

description: An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.


FENTANYL CITRATE

The citric acid salt of fentanyl, comprising equimolar amounts of citric acid and fentanyl. A mu-opioid receptor agonist, it is a potent opioid analgesic used in the management of labour pain, postoperative pain, and chronic intractable cancer pain. It is also widely used as the analgesic component of balanced anaesthesia.


name: GALT7_HUMAN N-acetylgalactosaminyltransferase 7 (sprot)

description: An N-acetylgalactosaminyltransferase 7 that is encoded in the genome of human.


name: XPC_HUMAN DNA repair protein complementing XP-C cells (sprot)

description: A DNA repair protein complementing XP-C cells that is encoded in the genome of human.


name: FBX15_HUMAN F-box only protein 15 (sprot)

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


name: METL5_HUMAN rRNA N6-adenosine-methyltransferase METTL5 (sprot)

description: An rRNA N6-adenosine-methyltransferase METTL5 that is encoded in the genome of human.


escherichia coli infection

description: Infection with the organism Escherichia Coli.


sodium arsenate

An inorganic sodium salt composed from sodium cations and arsenate anions in a 3:1 ratio.


name: RB15B_HUMAN Putative RNA-binding protein 15B (sprot)

description: A putative RNA-binding protein 15B that is encoded in the genome of human.


name: SRBS2_HUMAN Sorbin and SH3 domain-containing protein 2 (sprot)

description: A sorbin and SH3 domain-containing protein 2 that is encoded in the genome of human.


name: CX7A2_HUMAN Cytochrome c oxidase subunit 7A2, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 7A2, mitochondrial that is encoded in the genome of human.


glycocholic acid

A bile acid glycine conjugate having cholic acid as the bile acid component.


name: KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit beta (sprot)

description: A cAMP-dependent protein kinase catalytic subunit beta that is encoded in the genome of human.


name: PP16B_HUMAN Protein phosphatase 1 regulatory inhibitor subunit 16B (sprot)

description: A protein phosphatase 1 regulatory inhibitor subunit 16B that is encoded in the genome of human.


TEKT4_HUMAN Tektin-4 (sprot)

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


name: RA54B_HUMAN DNA repair and recombination protein RAD54B (sprot)

description: A DNA repair and recombination protein RAD54B that is encoded in the genome of human.


geniculate herpes zoster

description: A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.


name: OSGI2_HUMAN Oxidative stress-induced growth inhibitor 2 (sprot)

description: An oxidative stress-induced growth inhibitor 2 that is encoded in the genome of human.


name: esophageal small cell neuroendocrine carcinoma

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


An alicyclic primary alcohol that is cyclohexane substituted by a hydroxy methyl group and methyl group at positions 1 and 4. It acts as a hydrotrope, solubilizing hydrophobic substances in aqueous environments. It also prevents protein aggregation, alters membrane dynamics and metal homeostasis, and is used in a flotation process for cleaning and processing coal.


ETHYL BENZOATE

A benzoate ester obtained by condensation of benzoic acid and ethanol. It is a volatile oil component found in ripe kiwifruit, cranberry juice, and palm kernel oil.


name: GAR1_HUMAN H/ACA ribonucleoprotein complex subunit 1 (sprot)

description: An H/ACA ribonucleoprotein complex subunit 1 that is encoded in the genome of human.


APOF_HUMAN Apolipoprotein F (sprot)

An apolipoprotein F that is encoded in the genome of human.


name: KRA55_HUMAN Keratin-associated protein 5-5 (sprot)

description: A keratin-associated protein 5-5 that is encoded in the genome of human.


acquired hypertrichosis lanuginosa

description: Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.


name: INT2_HUMAN Integrator complex subunit 2 (sprot)

description: An integrator complex subunit 2 that is encoded in the genome of human.


type III hypersensitivity disease

description: Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.


name: EFC4B_HUMAN EF-hand calcium-binding domain-containing protein 4B (sprot)

description: An EF-hand calcium-binding domain-containing protein 4B that is encoded in the genome of human.


name: O13H1_HUMAN Olfactory receptor 13H1 (sprot)

description: An olfactory receptor 13H1 that is encoded in the genome of human.


cystic neoplasm

description: A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.


name: ZZZ3_HUMAN ZZ-type zinc finger-containing protein 3 (sprot)

description: A ZZ-type zinc finger-containing protein 3 that is encoded in the genome of human.


empyema

description: An accumulation of pus in a body cavity, usually the pleural space.


isopentadecanoic acid

A branched-chain saturated fatty acid comprising tetradecanoic (myristic) acid substituted at position 13 by a methyl group.


name: STPAP_HUMAN Speckle targeted PIP5K1A-regulated poly(A) polymerase (sprot)

description: A speckle targeted PIP5K1A-regulated poly(A) polymerase that is encoded in the genome of human.


name: I10R1_HUMAN Interleukin-10 receptor subunit alpha (sprot)

description: An interleukin-10 receptor subunit alpha that is encoded in the genome of human.


name: TB10B_HUMAN TBC1 domain family member 10B (sprot)

description: A TBC1 domain family member 10B that is encoded in the genome of human.


name: TFDP3_HUMAN Transcription factor Dp family member 3 (sprot)

description: A transcription factor Dp family member 3 that is encoded in the genome of human.


name: ALS_HUMAN Insulin-like growth factor-binding protein complex acid labile subunit (sprot)

description: An insulin-like growth factor-binding protein complex acid labile chain that is encoded in the genome of human.


TYRO_HUMAN Tyrosinase (sprot)

A tyrosinase that is encoded in the genome of human.


dyskinesia of esophagus

description: Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).


name: FEZ1_HUMAN Fasciculation and elongation protein zeta-1 (sprot)

description: A fasciculation and elongation protein zeta-1 that is encoded in the genome of human.


VASN_HUMAN Vasorin (sprot)

A vasorin that is encoded in the genome of human.


TSH-secreting pituitary adenoma

description: A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.


name: CGAT1_HUMAN Chondroitin sulfate N-acetylgalactosaminyltransferase 1 (sprot)

description: A chondroitin sulfate N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


DELPHINIDIN

An anthocyanidin cation consisting of benzopyrylium with hydroxy substituents at the 3-, 5- and 7-positions and a 3,4,5-trihydroxyphenyl group at the 2-position. It is a plant pigment responsible for the colours of the plants of the genera Viola and Delphinium.


facial cleft

description: A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.


name: PTPRO_HUMAN Receptor-type tyrosine-protein phosphatase O (sprot)

description: A receptor-type tyrosine-protein phosphatase O that is encoded in the genome of human.


Plantar hyperkeratosis

description: Hyperkeratosis affecting the sole of the foot.


birdshot chorioretinopathy

description: Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.


colon dysplasia

description: A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.


name: HRH4_HUMAN Histamine H4 receptor (sprot)

description: An H4 histamine receptor that is encoded in the genome of human.


spinocerebellar ataxia type 14

description: Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.


name: GAPD1_HUMAN GTPase-activating protein and VPS9 domain-containing protein 1 (sprot)

description: A GTPase-activating protein and VPS9 domain-containing protein 1 that is encoded in the genome of human.


name: TPTE2_HUMAN Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 (sprot)

description: A phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 that is encoded in the genome of human.


name: TSSK1_HUMAN Testis-specific serine/threonine-protein kinase 1 (sprot)

description: A testis-specific serine/threonine-protein kinase 1 that is encoded in the genome of human.


Stroke-like episode

description: No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


name: PILRA_HUMAN Paired immunoglobulin-like type 2 receptor alpha (sprot)

description: A paired immunoglobulin-like type 2 receptor alpha that is encoded in the genome of human.


TLC3B_HUMAN Ceramide synthase (sprot)

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


hereditary retinoblastoma

description: An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.


name: RPAB4_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC4 (sprot)

description: A DNA-directed RNA polymerases I, II, and III subunit RPABC4 that is encoded in the genome of human.


Secondary hyperaldosteronism

description: A form of hyperaldosteronism caused by abnormally increased renin levels.


Parotid gland adenocarcinoma

description: An adenocarcinoma that arises from the parotid gland.


paraneoplastic cerebellar degeneration

description: A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.


acquired hemophilia

description: Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.


Alzheimer disease 13

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.


name: BICD1_HUMAN Protein bicaudal D homolog 1 (sprot)

description: A protein bicaudal D homolog 1 that is encoded in the genome of human.


vector-borne disease

description: An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.


name: TMC8_HUMAN Transmembrane channel-like protein 8 (sprot)

description: A transmembrane channel-like protein 8 that is encoded in the genome of human.


quadriplegia

description: Paralysis of all four limbs.


name: Epstein-Barr virus-associated gastric carcinoma

description: Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.


EMIL1_HUMAN EMILIN-1 (sprot)

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


name: autoimmune disorder of the nervous system

description: A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.


name: PLPL4_HUMAN Patatin-like phospholipase domain-containing protein 4 (sprot)

description: A patatin-like phospholipase domain-containing protein 4 that is encoded in the genome of human.


name: GBG1_HUMAN Guanine nucleotide-binding protein G(T) subunit gamma-T1 (sprot)

description: A guanine nucleotide-binding protein G(T) subunit gamma-T1 that is encoded in the genome of human.


immunoglobulin A vasculitis

description: A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.


SNX17_HUMAN Sorting nexin-17 (sprot)

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


TB10C_HUMAN Carabin (sprot)

A carabin that is encoded in the genome of human.


CYTN_HUMAN Cystatin-SN (sprot)

A cystatin-SN that is encoded in the genome of human.


name: NDUS5_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 that is encoded in the genome of human.


A chloroethanol carrying a chloro substituent at position 2.


cutis laxa

description: Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.


name: RM17_HUMAN Large ribosomal subunit protein bL17m (sprot)

description: A large ribosomal subunit protein bL17m that is encoded in the genome of human.


CSEN_HUMAN Calsenilin (sprot)

A calsenilin that is encoded in the genome of human.


name: KPB1_HUMAN Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform (sprot)

description: A phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform that is encoded in the genome of human.


TIGOGENIN

A widely used steroidal sapogenin isolated from several plant species and used for synthesizing steroid drugs.


name: TBB2A_HUMAN Tubulin beta-2A chain (sprot)

description: A tubulin beta-2A chain that is encoded in the genome of human.


name: CIDEB_HUMAN Lipid transferase CIDEB (sprot)

description: A lipid transferase CIDEB that is encoded in the genome of human.


premenstrual tension

description: A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.


HORN_HUMAN Hornerin (sprot)

A hornerin that is encoded in the genome of human.


name: HUTH_HUMAN Histidine ammonia-lyase (sprot)

description: A histidine ammonia-lyase that is encoded in the genome of human.


name: HAP40_HUMAN 40-kDa huntingtin-associated protein (sprot)

description: A 40-kDa huntingtin-associated protein that is encoded in the genome of human.


name: RPC5_HUMAN DNA-directed RNA polymerase III subunit RPC5 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC5 that is encoded in the genome of human.


name: ARRD1_HUMAN Arrestin domain-containing protein 1 (sprot)

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


tympanitis

description: An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.


name: RM48_HUMAN Large ribosomal subunit protein mL48 (sprot)

description: A large ribosomal subunit protein mL48 that is encoded in the genome of human.


name: ATS12_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 12 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 12 that is encoded in the genome of human.


name: TMPS3_HUMAN Transmembrane protease serine 3 (sprot)

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


ribostamycin

An amino cyclitol glycoside that is 4,6-diaminocyclohexane-1,2,3-triol having a 2,6-diamino-2,6-dideoxy-alpha-D-glucosyl residue attached at position 1 and a beta-D-ribosyl residue attached at position 2. It is an antibiotic produced by Streptomyces ribosidificus (formerly S. thermoflavus).


name: RHDF1_HUMAN Inactive rhomboid protein 1 (sprot)

description: An inactive rhomboid protein 1 that is encoded in the genome of human.


acemetacin

A carboxylic ester that is the carboxymethyl ester of indometacin. A non-steroidal anti-inflammatory drug, it is used in the treatment of rheumatoid arthritis, osteoarthritis, and low back pain, as well as for postoperative pain and inflammation. Its activity is due to both acemetacin and its major metabolite, indometacin.


name: ARFG3_HUMAN ADP-ribosylation factor GTPase-activating protein 3 (sprot)

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


name: MORN2_HUMAN MORN repeat-containing protein 2 (sprot)

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


miliaria crystallina

description: A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.


name: DNJB3_HUMAN DnaJ homolog subfamily B member 3 (sprot)

description: A DnaJ homolog subfamily B member 3 that is encoded in the genome of human.


DCTN4_HUMAN Dynactin subunit 4 (sprot)

A dynactin subunit 4 that is encoded in the genome of human.


name: S22AH_HUMAN Solute carrier family 22 member 17 (sprot)

description: A solute carrier family 22 member 17 that is encoded in the genome of human.


autosomal dominant optic atrophy

description: An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.


name: PIGN_HUMAN GPI ethanolamine phosphate transferase 1 (sprot)

description: A GPI ethanolamine phosphate transferase 1 that is encoded in the genome of human.


hydroa vacciniforme-like lymphoma

description: A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.


name: LRC10_HUMAN Leucine-rich repeat-containing protein 10 (sprot)

description: A leucine-rich repeat-containing protein 10 that is encoded in the genome of human.


name: GUC2B_HUMAN Guanylate cyclase activator 2B (sprot)

description: A guanylate cyclase activator 2B that is encoded in the genome of human.


name: KIF12_HUMAN Kinesin-like protein KIF12 (sprot)

description: A kinesin-like protein KIF12 that is encoded in the genome of human.


ricinoleic acid

A (9Z)-12-hydroxyoctadec-9-enoic acid in which the 12-hydroxy group has R-configuration..


name: TBL2_HUMAN Transducin beta-like protein 2 (sprot)

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


name: PADI6_HUMAN Protein-arginine deiminase type-6 (sprot)

description: A protein-arginine deiminase type-6 that is encoded in the genome of human.


CBPM_HUMAN Carboxypeptidase M (sprot)

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


name: PRP1_HUMAN Basic salivary proline-rich protein 1 (sprot)

description: A basic salivary proline-rich protein 1 that is encoded in the genome of human.


SEM4A_HUMAN Semaphorin-4A (sprot)

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


name: INPP_HUMAN Inositol polyphosphate 1-phosphatase (sprot)

description: An inositol polyphosphate 1-phosphatase that is encoded in the genome of human.


diencephalic syndrome

description: Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.


name: TRI66_HUMAN Tripartite motif-containing protein 66 (sprot)

description: A tripartite motif-containing protein 66 that is encoded in the genome of human.


name: EME2_HUMAN Probable crossover junction endonuclease EME2 (sprot)

description: A probable crossover junction endonuclease EME2 that is encoded in the genome of human.


adult pleomorphic rhabdomyosarcoma

description: An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.


name: PAGE4_HUMAN P antigen family member 4 (sprot)

description: A P antigen family member 4 that is encoded in the genome of human.


name: inborn disorder of amino acid metabolism

description: An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.


name: SPG7_HUMAN Mitochondrial inner membrane m-AAA protease component paraplegin (sprot)

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


vaginal melanoma

description: A primary malignant neoplasm of the vagina composed of malignant melanocytes.


digestive system adenoma

description: A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.


name: MTCH2_HUMAN Mitochondrial carrier homolog 2 (sprot)

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


name: MB212_HUMAN Protein mab-21-like 2 (sprot)

description: A protein mab-21-like 2 that is encoded in the genome of human.


T-cell immunodeficiency

description: A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.


name: UBP13_HUMAN Ubiquitin carboxyl-terminal hydrolase 13 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 13 that is encoded in the genome of human.


name: ACL6B_HUMAN Actin-like protein 6B (sprot)

description: An actin-like protein 6B that is encoded in the genome of human.


name: TRI43_HUMAN Tripartite motif-containing protein 43 (sprot)

description: A tripartite motif-containing protein 43 that is encoded in the genome of human.


oculocutaneous albinism type 1B

description: Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.


cerebellar hemangioblastoma

description: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).


hemangioma of choroid

description: A hemangioma that involves the optic choroid.


adult dermatomyositis

description: Dermatomyositis in an adult.


name: CBPA3_HUMAN Mast cell carboxypeptidase A (sprot)

description: A mast cell carboxypeptidase A that is encoded in the genome of human.


name: FDX2_HUMAN Ferredoxin-2, mitochondrial (sprot)

description: A ferredoxin-2, mitochondrial that is encoded in the genome of human.


alpha-D-galactoside

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


name: HORM2_HUMAN HORMA domain-containing protein 2 (sprot)

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


name: MCMD2_HUMAN Minichromosome maintenance domain-containing protein 2 (sprot)

description: A minichromosome maintenance domain-containing protein 2 that is encoded in the genome of human.


NOP9_HUMAN Nucleolar protein 9 (sprot)

A nucleolar protein 9 that is encoded in the genome of human.


name: VDAC3_HUMAN Voltage-dependent anion-selective channel protein 3 (sprot)

description: A voltage-dependent anion-selective channel protein 3 that is encoded in the genome of human.


SHSA6_HUMAN Protein shisa-6 (sprot)

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


L-gamma-glutamyl-L-cysteine

A molecular entity formed when L-cysteine amino group binds to the gamma-carbonyl of L-glutamic acid.


A fatty alcohol that is nonanol that has undergone dehydrogenation to introduce a double bond at any position in the aliphatic chain and in which a hydrogen at position 4 has been replaced by a hydroxy group.


name: abdominal obesity-metabolic syndrome quantitative trait locus 2


name: dopa-responsive dystonia due to sepiapterin reductase deficiency

description: Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.


Monocytopenia

description: An decreased number of circulating monocytes.


name: TSSK2_HUMAN Testis-specific serine/threonine-protein kinase 2 (sprot)

description: A testis-specific serine/threonine-protein kinase 2 that is encoded in the genome of human.


name: DNER_HUMAN Delta and Notch-like epidermal growth factor-related receptor (sprot)

description: A delta and Notch-like epidermal growth factor-related receptor that is encoded in the genome of human.


name: UBP16_HUMAN Ubiquitin carboxyl-terminal hydrolase 16 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 16 that is encoded in the genome of human.


CAYP2_HUMAN Calcyphosin-2 (sprot)

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


name: CMPK2_HUMAN UMP-CMP kinase 2, mitochondrial (sprot)

description: A UMP-CMP kinase 2, mitochondrial that is encoded in the genome of human.


name: nasal cavity and paranasal sinus carcinoma

description: A carcinoma arising from the nasal cavity or paranasal sinuses.


CRBA1_HUMAN Beta-crystallin A3 (sprot)

A beta-crystallin A3 that is encoded in the genome of human.


name: MGDP1_HUMAN Magnesium-dependent phosphatase 1 (sprot)

description: A magnesium-dependent phosphatase 1 that is encoded in the genome of human.


name: CEP20_HUMAN Centrosomal protein 20 (sprot)

description: A centrosomal protein 20 that is encoded in the genome of human.


name: SRBS1_HUMAN Sorbin and SH3 domain-containing protein 1 (sprot)

description: A sorbin and SH3 domain-containing protein 1 that is encoded in the genome of human.


Camurati-Engelmann disease

description: Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.


name: ARFG2_HUMAN ADP-ribosylation factor GTPase-activating protein 2 (sprot)

description: An ADP-ribosylation factor GTPase-activating protein 2 that is encoded in the genome of human.


name: ATS16_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 16 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 16 that is encoded in the genome of human.


name: EIF3G_HUMAN Eukaryotic translation initiation factor 3 subunit G (sprot)

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


lower respiratory tract disorder

description: A disease involving the lower respiratory tract.


disorder of methionine catabolism

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


limited systemic sclerosis

description: Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.


Boerhaave syndrome

description: A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


name: RL14_HUMAN Large ribosomal subunit protein eL14 (sprot)

description: A large ribosomal subunit protein eL14 that is encoded in the genome of human.


Chemosis

description: Edema (swelling) of the bulbar conjunctiva.


name: CNOT4_HUMAN CCR4-NOT transcription complex subunit 4 (sprot)

description: A CCR4-NOT transcription complex subunit 4 that is encoded in the genome of human.


pantothenate

A monocarboxylic acid anion that is the conjugate base of pantothenic acid, obtained by deprotonation of the carboxy group.


Metabolic alkalosis

description: Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.


mandibuloacral dysplasia

description: Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.


dropped head syndrome

description: A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.


polihexanide

A homopolymer macromolecule composed of repeating N-hexyltriimidodicarbonic diamide units. It is used as a disinfectant, antiseptic, and antifungal agent. Also commonly used as a swimming pool and spa water sanitizer.


LTV1_HUMAN Protein LTV1 homolog (sprot)

A protein LTV1 that is encoded in the genome of human.


name: FITM2_HUMAN Acyl-coenzyme A diphosphatase FITM2 (sprot)

description: An acyl-coenzyme A diphosphatase FITM2 that is encoded in the genome of human.


name: MYLK4_HUMAN Myosin light chain kinase family member 4 (sprot)

description: A myosin light chain kinase family member 4 that is encoded in the genome of human.


name: ZN598_HUMAN E3 ubiquitin-protein ligase ZNF598 (sprot)

description: An E3 ubiquitin-protein ligase ZNF598 that is encoded in the genome of human.


Phelan-McDermid syndrome

description: Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.


name: TMCC1_HUMAN Transmembrane and coiled-coil domains protein 1 (sprot)

description: A transmembrane and coiled-coil domains protein 1 that is encoded in the genome of human.


NCALD_HUMAN Neurocalcin-delta (sprot)

A neurocalcin-delta that is encoded in the genome of human.


tranylcypromine hydrochloride

A racemate comprising equal amounts of (1R,2S)- and (1S,2R)-tranylcypromine hydrochloride. An irreversible monoamine oxidase inhibitor that is used as an antidepressant.


age related macular degeneration 2

description: An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.


name: CDK13_HUMAN Cyclin-dependent kinase 13 (sprot)

description: A cyclin-dependent kinase 13 that is encoded in the genome of human.


name: TF3A_HUMAN Transcription factor IIIA (sprot)

description: A transcription factor IIIA that is encoded in the genome of human.


sulfamerazine

A sulfonamide consisting of pyrimidine with a methyl substituent at the 4-position and a 4-aminobenzenesulfonamido group at the 2-position.


name: RBM23_HUMAN Probable RNA-binding protein 23 (sprot)

description: A probable RNA-binding protein 23 that is encoded in the genome of human.


name: IF4G3_HUMAN Eukaryotic translation initiation factor 4 gamma 3 (sprot)

description: A eukaryotic translation initiation factor 4 gamma 3 that is encoded in the genome of human.


SLAP2_HUMAN Src-like-adapter 2 (sprot)

A Src-like-adapter 2 that is encoded in the genome of human.


name: HIP1R_HUMAN Huntingtin-interacting protein 1-related protein (sprot)

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


dermatitis, atopic

description: Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.


Inguinal hernia

description: Protrusion of the contents of the abdominal cavity through the inguinal canal.


Corneal stromal edema

description: Abnormal accumulation of fluid and swelling of the stroma of cornea.


name: NUDT6_HUMAN Nucleoside diphosphate-linked moiety X motif 6 (sprot)

description: A nucleoside diphosphate-linked moiety X motif 6 that is encoded in the genome of human.


name: BICC1_HUMAN Protein bicaudal C homolog 1 (sprot)

description: A protein bicaudal C homolog 1 that is encoded in the genome of human.


name: ZN148_HUMAN Zinc finger protein 148 (sprot)

description: A zinc finger protein 148 that is encoded in the genome of human.


name: AL7A1_HUMAN Alpha-aminoadipic semialdehyde dehydrogenase (sprot)

description: An alpha-aminoadipic semialdehyde dehydrogenase that is encoded in the genome of human.


pyridoxine-dependent epilepsy

description: A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).


name: TPPC1_HUMAN Trafficking protein particle complex subunit 1 (sprot)

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


name: NADL2_HUMAN Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 (sprot)

description: An inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 that is encoded in the genome of human.


MTG8R_HUMAN Protein CBFA2T2 (sprot)

A protein CBFA2T2 that is encoded in the genome of human.


pulpitis

description: Inflammation of the dental pulp.


name: MET2B_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL2B (sprot)

description: A tRNA N(3)-methylcytidine methyltransferase METTL2B that is encoded in the genome of human.


name: B3AT_HUMAN Band 3 anion transport protein (sprot)

description: A band 3 anion transport protein that is encoded in the genome of human.


name: ST1C2_HUMAN Sulfotransferase 1C2 (sprot)

description: A sulfotransferase 1C2 that is encoded in the genome of human.


PANCURONIUM BROMIDE

A bromide salt consisting of two bromide ions and one pancuronium dication.


name: SBDS_HUMAN Ribosome maturation protein SBDS (sprot)

description: A ribosome maturation protein SBDS that is encoded in the genome of human.


COBL_HUMAN Protein cordon-bleu (sprot)

A protein cordon-bleu that is encoded in the genome of human.


congenital heart block

description: Heart block that occurs on or before 28 days of life.


name: KCC2G_HUMAN Calcium/calmodulin-dependent protein kinase type II subunit gamma (sprot)

description: A calcium/calmodulin-dependent protein kinase type II subunit gamma that is encoded in the genome of human.


Supraventricular tachycardia

description: Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.


name: DPY30_HUMAN Protein dpy-30 homolog (sprot)

description: A protein dpy-30 that is encoded in the genome of human.


name: TRFR_HUMAN Thyrotropin-releasing hormone receptor (sprot)

description: A thyrotropin-releasing hormone receptor type 1 that is encoded in the genome of human.


hyperhidrosis palmaris ET plantaris

description: An abnormally increased perspiration on palms and soles.


Sheehan syndrome

description: An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.


name: familial hemophagocytic lymphohistiocytosis type 1

description: Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.


isolated optic nerve hypoplasia

description: A congenital abnormality characterized by the underdevelopment of both optic nerves.


PRM3_HUMAN Protamine-3 (sprot)

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


acyl-CoA dehydrogenase 9 deficiency

description: A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


name: MCAF2_HUMAN Activating transcription factor 7-interacting protein 2 (sprot)

description: An activating transcription factor 7-interacting protein 2 that is encoded in the genome of human.


name: ATG4D_HUMAN Cysteine protease ATG4D (sprot)

description: A cysteine protease ATG4D that is encoded in the genome of human.


GPC4_HUMAN Glypican-4 (sprot)

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


name: RRBP1_HUMAN Ribosome-binding protein 1 (sprot)

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


histrelin acetate

An acetate salt obtained by combining histrelin with acetic acid. The amount of acetic acid present can vary and a variable amount of water may be present. Histrelin acetate is used as a subcutaneous hydrogel implant for the treatment of prostate cancer and for the suppression of gonadal sex hormone production in children with central precocious puberty.


name: DDI2_HUMAN Protein DDI1 homolog 2 (sprot)

description: A protein DDI1 homolog 2 that is encoded in the genome of human.


name: CEP83_HUMAN Centrosomal protein of 83 kDa (sprot)

description: A centrosomal protein of 83 kDa that is encoded in the genome of human.


3-hydroxyglutaric acid

A 3 hydroxy carboxylic acid that is glutaric acid which is substituted by a hydroxy group at position 3. It is a diagnostic marker for glutaric aciduria type I.


glutaryl-CoA dehydrogenase deficiency

description: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.


name: DNJB2_HUMAN DnaJ homolog subfamily B member 2 (sprot)

description: A DnaJ homolog subfamily B member 2 that is encoded in the genome of human.


naloxegol

An organic heteropentacyclic compound that is naloxone in which the keto group is replaced by a PEG moiety. Used for treatment of opioid-induced constipation.


name: SPR2F_HUMAN Small proline-rich protein 2F (sprot)

description: A small proline-rich protein 2F that is encoded in the genome of human.


name: TSPY1_HUMAN Testis-specific Y-encoded protein 1 (sprot)

description: A testis-specific Y-encoded protein 1 that is encoded in the genome of human.


name: HDGR2_HUMAN Hepatoma-derived growth factor-related protein 2 (sprot)

description: A hepatoma-derived growth factor-related protein 2 that is encoded in the genome of human.


name: NELFA_HUMAN Negative elongation factor A (sprot)

description: A negative elongation factor A that is encoded in the genome of human.


name: LSM7_HUMAN U6 snRNA-associated Sm-like protein LSm7 (sprot)

description: A U6 snRNA-associated Sm-like protein LSm7 that is encoded in the genome of human.


name: infantile-onset periodic fever-panniculitis-dermatosis syndrome

description: An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.


name: GDPP1_HUMAN GDP-D-glucose phosphorylase 1 (sprot)

description: A GDP-D-glucose phosphorylase 1 that is encoded in the genome of human.


malignant spindle cell neoplasm

description: A malignant neoplasm characterized by the presence of atypical spindle cells.


name: SHKB1_HUMAN SH3KBP1-binding protein 1 (sprot)

description: An SH3KBP1-binding protein 1 that is encoded in the genome of human.


name: EIF3A_HUMAN Eukaryotic translation initiation factor 3 subunit A (sprot)

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


autoimmune hepatitis type 1

description: Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).


name: AL9A1_HUMAN 4-trimethylaminobutyraldehyde dehydrogenase (sprot)

description: A 4-trimethylaminobutyraldehyde dehydrogenase that is encoded in the genome of human.


name: TMM70_HUMAN Transmembrane protein 70, mitochondrial (sprot)

description: A transmembrane protein 70, mitochondrial that is encoded in the genome of human.


name: GNMT_HUMAN Glycine N-methyltransferase (sprot)

description: A glycine N-methyltransferase that is encoded in the genome of human.


TM1L1_HUMAN TOM1-like protein 1 (sprot)

A TOM1-like protein 1 that is encoded in the genome of human.