name: PTPRK_HUMAN Receptor-type tyrosine-protein phosphatase kappa (sprot)

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


Aminoglycoside-induced hearing loss

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

description: Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.


RBNS5_HUMAN Rabenosyn-5 (sprot)

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


name: RGS17_HUMAN Regulator of G-protein signaling 17 (sprot)

description: A regulator of G-protein signaling 17 that is encoded in the genome of human.


cutaneous adenocystic carcinoma

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

description: A adenoid cystic carcinoma that involves the skin of body.


sigmoid colon cancer

description: A malignant neoplasm involving the sigmoid colon.


name: HYLS1_HUMAN Centriolar and ciliogenesis-associated protein HYLS1 (sprot)

description: A centriolar and ciliogenesis-associated protein HYLS1 that is encoded in the genome of human.


thrombocytopenia 1

description: An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia.


DACT2_HUMAN Dapper homolog 2 (sprot)

A dapper homolog 2 that is encoded in the genome of human.


name: TPC_HUMAN Mitochondrial thiamine pyrophosphate carrier (sprot)

description: A mitochondrial thiamine pyrophosphate carrier that is encoded in the genome of human.


name: CLIP2_HUMAN CAP-Gly domain-containing linker protein 2 (sprot)

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


guvacine

A alpha,beta-unsaturated monocarboxylic acid that is nicotinic acid which has been hydrogenated at the 1-2 and 5-6 positions of the pyridine ring.


name: COG2_HUMAN Conserved oligomeric Golgi complex subunit 2 (sprot)

description: A conserved oligomeric Golgi complex subunit 2 that is encoded in the genome of human.


connective tissue neoplasm

description: Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.


name: HHAT_HUMAN Protein-cysteine N-palmitoyltransferase HHAT (sprot)

description: A protein-cysteine N-palmitoyltransferase HHAT that is encoded in the genome of human.


acrodermatitis enteropathica

description: Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.


SELM_HUMAN Selenoprotein M (sprot)

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


A member of the class of tryptamines that is the methyl ether derivative of serotonin.


ectopic ACTH secretion syndrome

description: A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)


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

A phosphatidylethanolamine P-36:3 in which the 1-alkenyl group contains 18 carbons and no additional double bonds while the acyl group contains 18 carbons and 3 double bonds.


name: DGKZ_HUMAN Diacylglycerol kinase zeta (sprot)

description: A diacylglycerol kinase zeta that is encoded in the genome of human.


name: TBCA_HUMAN Tubulin-specific chaperone A (sprot)

description: A tubulin-specific chaperone A that is encoded in the genome of human.


Hypertelorism

description: Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


ATLA3_HUMAN Atlastin-3 (sprot)

An atlastin-3 that is encoded in the genome of human.


Posterior subcapsular cataract

description: A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.


Fanconi anemia complementation group D2

description: Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.


chronic pain syndrome

description: Chronic form of disorder involving pain.


name: LRP3_HUMAN Low-density lipoprotein receptor-related protein 3 (sprot)

description: A low-density lipoprotein receptor-related protein 3 that is encoded in the genome of human.


dihydrosphingosine

A 2-aminooctadecane-1,3-diol having (2S,3R)-configuration.


name: COTL1_HUMAN Coactosin-like protein (sprot)

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


Diffuse alveolar damage

description: Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation.


hidradenitis

description: An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.


name: HXD11_HUMAN Homeobox protein Hox-D11 (sprot)

description: A homeobox protein Hox-D11 that is encoded in the genome of human.


name: DBP_HUMAN D site-binding protein (sprot)

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


ameloblastic carcinoma

description: A rare, cytologically malignant ameloblastoma that may metastasize.


name: PITM2_HUMAN Membrane-associated phosphatidylinositol transfer protein 2 (sprot)

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


Intellectual disability, mild

description: Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.


name: CHCH5_HUMAN Coiled-coil-helix-coiled-coil-helix domain-containing protein 5 (sprot)

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


ganglioside GM3

A sialodiaosylceramide that is an alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-N-acylsphingosine in which the acyl group on nitrogen is (15Z)-tetracos-15-enoyl.


NICA_HUMAN Nicastrin (sprot)

A nicastrin that is encoded in the genome of human.


name: ERGI2_HUMAN Endoplasmic reticulum-Golgi intermediate compartment protein 2 (sprot)

description: An endoplasmic reticulum-Golgi intermediate compartment protein 2 that is encoded in the genome of human.


name: RL31_HUMAN Large ribosomal subunit protein eL31 (sprot)

description: A large ribosomal subunit protein eL31 that is encoded in the genome of human.


name: RL7_HUMAN Large ribosomal subunit protein uL30 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL30 that is encoded in the genome of human.


oxfendazole

A member of the class of benzimidazoles that is fenbendazole in which the sulfur has been oxidised to the corresponding sulfoxide.


name: EF1B_HUMAN Elongation factor 1-beta (sprot)

description: An elongation factor 1-beta that is encoded in the genome of human.


isopentane

An alkane that is butane substituted by a methyl group at position 2.


name: HPS5_HUMAN BLOC-2 complex member HPS5 (sprot)

description: A BLOC-2 complex member HPS5 that is encoded in the genome of human.


papillary cystadenoma

description: A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.


nerve compression syndrome

description: Any nerve disorder caused by the entrapment and compression of a nerve.


iridocyclitis

description: An inflammation of the iris and the ciliary body


phyllodes tumor

description: A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.


Corneal erosion

description: An erosion or abrasion of the cornea's outermost layer of epithelial cells.


name: PKH4B_HUMAN Pleckstrin homology domain-containing family G member 4B (sprot)

description: A pleckstrin homology domain-containing family G member 4B that is encoded in the genome of human.


sinapyl alcohol

A primary alcohol, being cinnamyl alcohol hydroxylated at C-4 and methoxylated at C-3 and -5.


name: FKRP_HUMAN Ribitol 5-phosphate transferase FKRP (sprot)

description: A ribitol 5-phosphate transferase FKRP that is encoded in the genome of human.


name: FKTN_HUMAN Ribitol-5-phosphate transferase FKTN (sprot)

description: A ribitol-5-phosphate transferase FKTN that is encoded in the genome of human.


name: progressive familial intrahepatic cholestasis type 2

description: Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.


name: S28A3_HUMAN Solute carrier family 28 member 3 (sprot)

description: A solute carrier family 28 member 3 that is encoded in the genome of human.


reactive thrombocytosis

description: A thrombocytosis caused by an underlying condition, such as an infection.


cefprozil

A semisynthetic, second-generation cephalosporin, with prop-1-enyl and (R)-2-amino-2-(4-hydroxyphenyl)acetamido groups at positions 3 and 7, respectively, of the cephem skeleton. It is used to treat bronchitis as well as ear, skin and other bacterial infections.


quercetin 3-sulfate

A quercetin sulfate with a sulfo group at position 3.


adrenal gland neoplasm

description: A neoplasm (disease) that involves the adrenal gland.


name: PP4R2_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 2 (sprot)

description: A serine/threonine-protein phosphatase 4 regulatory subunit 2 that is encoded in the genome of human.


name: ZFHX3_HUMAN Zinc finger homeobox protein 3 (sprot)

description: A zinc finger homeobox protein 3 that is encoded in the genome of human.


heroin dependence

description: Physical and psychological dependence on the drug heroin.


name: NDUS2_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial that is encoded in the genome of human.


MELAS syndrome

description: MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.


syringofibroadenoma

description: A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.


name: ZC12B_HUMAN Probable ribonuclease ZC3H12B (sprot)

description: A probable ribonuclease ZC3H12B that is encoded in the genome of human.


name: CAAP1_HUMAN Caspase activity and apoptosis inhibitor 1 (sprot)

description: A caspase activity and apoptosis inhibitor 1 that is encoded in the genome of human.


inflammatory bowel disease 14

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.


name: NTAN1_HUMAN Protein N-terminal asparagine amidohydrolase (sprot)

description: A protein N-terminal asparagine amidohydrolase that is encoded in the genome of human.


name: COMDA_HUMAN COMM domain-containing protein 10 (sprot)

description: A COMM domain-containing protein 10 that is encoded in the genome of human.


Hypohidrosis

description: Abnormally diminished capacity to sweat.


name: ACOXL_HUMAN Acyl-coenzyme A oxidase-like protein (sprot)

description: An acyl-coenzyme A oxidase-like protein that is encoded in the genome of human.


BYST_HUMAN Bystin (sprot)

A bystin that is encoded in the genome of human.


name: TB10A_HUMAN TBC1 domain family member 10A (sprot)

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


name: RHG22_HUMAN Rho GTPase-activating protein 22 (sprot)

description: A Rho GTPase-activating protein 22 that is encoded in the genome of human.


ACETIC ACID PENTYL ESTER

An acetate ester of pentanol.


name: PARG_HUMAN Poly(ADP-ribose) glycohydrolase (sprot)

description: A poly(ADP-ribose) glycohydrolase that is encoded in the genome of human.


name: PIBF1_HUMAN Progesterone-induced-blocking factor 1 (sprot)

description: A progesterone-induced-blocking factor 1 that is encoded in the genome of human.


MCM8_HUMAN DNA helicase MCM8 (sprot)

A DNA helicase MCM8 that is encoded in the genome of human.


BROMODICHLOROMETHANE

A halomethane that is dichloromethane in which oneof the hydrogens has been replaced by a bromine atom. It occurs as a contaminant in drinking water.


name: IFT88_HUMAN Intraflagellar transport protein 88 homolog (sprot)

description: An intraflagellar transport protein 88 that is encoded in the genome of human.


eunuchism

description: The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.


Nelson syndrome

description: A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.


name: blast phase chronic myelogenous leukemia, BCR-ABL1 positive

description: An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).


polymicrogyria

description: A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


name: BATF_HUMAN Basic leucine zipper transcriptional factor ATF-like (sprot)

description: A basic leucine zipper transcriptional factor ATF-like that is encoded in the genome of human.


name: PTBP2_HUMAN Polypyrimidine tract-binding protein 2 (sprot)

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


Ascending aortic dissection

description: A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


restrictive pulmonary disease

description: Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.


name: TR13C_HUMAN Tumor necrosis factor receptor superfamily member 13C (sprot)

description: A tumor necrosis factor receptor superfamily member 13C that is encoded in the genome of human.


name: LAMB1_HUMAN Laminin subunit beta-1 (sprot)

description: A laminin subunit beta-1 that is encoded in the genome of human.


name: GIN1_HUMAN Gypsy retrotransposon integrase-like protein 1 (sprot)

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


fenthion

An organic thiophosphate that is O,O-dimethyl hydrogen phosphorothioate in which the hydrogen atom of the hydroxy group is replaced by a 3-methyl-4-(methylsulfanyl)phenyl group. It exhibits  acaricidal and insecticidal activities.


name: TIAF1_HUMAN Putative TGFB1-induced anti-apoptotic factor 1 (sprot)

description: A TGFB1-induced anti-apoptotic factor 1 that is encoded in the genome of human.


name: ZN335_HUMAN Zinc finger protein 335 (sprot)

description: A zinc finger protein 335 that is encoded in the genome of human.


name: EP15R_HUMAN Epidermal growth factor receptor substrate 15-like 1 (sprot)

description: An epidermal growth factor receptor substrate 15-like 1 that is encoded in the genome of human.


name: CSH2_HUMAN Chorionic somatomammotropin hormone 2 (sprot)

description: A chorionic somatomammotropin hormone 2 that is encoded in the genome of human.


name: FHL17_HUMAN Ferritin heavy polypeptide-like 17 (sprot)

description: A ferritin heavy polypeptide-like 17 that is encoded in the genome of human.


titanocene

A bis(eta(5)-cyclopentadienyl)metal(II) having Ti(II) as the metal(II) species. The parent of the class of titanonocenes.


CD209_HUMAN CD209 antigen (sprot)

A CD209 molecule that is encoded in the genome of human.


PHOSPHONIC ACID

A phosphorus oxoacid that consists of a single pentavalent phosphorus covalently bound via single bonds to a single hydrogen and two hydroxy groups and via a double bond to an oxygen. The parent of the class of phosphonic acids.


NALOXONE HYDROCHLORIDE

A hydrochloride resulting from the formal reaction of equimolar amounts of naloxone and hydrogen chloride. A specific opioid antagonist, it is used to reverse the effects of opioids, both following their use of opioids during surgery and in cases of known or suspected opioid overdose.


name: DEP1A_HUMAN DEP domain-containing protein 1A (sprot)

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


AF1Q_HUMAN Protein AF1q (sprot)

A protein AF1q that is encoded in the genome of human.


GLNA_HUMAN Glutamine synthetase (sprot)

A glutamine synthetase that is encoded in the genome of human.


appendix adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the vermiform appendix.


name: COQA1_HUMAN Collagen alpha-1(XXVI) chain (sprot)

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


name: NKD2_HUMAN Protein naked cuticle homolog 2 (sprot)

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


MAGNESIUM PHOSPHATE

A magnesium salt with C-H bonds


name: S6A20_HUMAN Sodium- and chloride-dependent transporter XTRP3 (sprot)

description: A sodium- and chloride-dependent transporter XTRP3 that is encoded in the genome of human.


Parasomnia

description: An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.


neuroretinitis

description: Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.


name: RAI2_HUMAN Retinoic acid-induced protein 2 (sprot)

description: A retinoic acid-induced protein 2 that is encoded in the genome of human.


name: CDCA4_HUMAN Cell division cycle-associated protein 4 (sprot)

description: A cell division cycle-associated protein 4 that is encoded in the genome of human.


TCOF_HUMAN Treacle protein (sprot)

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


name: SEC20_HUMAN Vesicle transport protein SEC20 (sprot)

description: A vesicle transport protein SEC20 that is encoded in the genome of human.


salivary duct carcinoma

description: An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.


name: ILF3_HUMAN Interleukin enhancer-binding factor 3 (sprot)

description: An interleukin enhancer-binding factor 3 that is encoded in the genome of human.


CAN9_HUMAN Calpain-9 (sprot)

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


Hypoganglionosis

description: Sparse and small myenteric ganglia


name: HXB6_HUMAN Homeobox protein Hox-B6 (sprot)

description: A homeobox protein Hox-B6 that is encoded in the genome of human.


The N-substituted diamine that is 1,4-phenylenediamine substituted at one N with an isopropyl group and at the other with a phenyl group.


name: PDE1C_HUMAN Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C (sprot)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C that is encoded in the genome of human.


name: BBS5_HUMAN Bardet-Biedl syndrome 5 protein (sprot)

description: A Bardet-Biedl syndrome 5 protein that is encoded in the genome of human.


name: BBS12_HUMAN Bardet-Biedl syndrome 12 protein (sprot)

description: A Bardet-Biedl syndrome 12 protein that is encoded in the genome of human.


encephalopathy, bovine spongiform

description: A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)


name: UCP5_HUMAN Brain mitochondrial carrier protein 1 (sprot)

description: A brain mitochondrial carrier protein 1 that is encoded in the genome of human.


anal canal squamous cell carcinoma

description: A squamous cell carcinoma arising from the mucosa of the anal canal.


name: congenital reticular ichthyosiform erythroderma


name: SL9B1_HUMAN Sodium/hydrogen exchanger 9B1 (sprot)

description: A sodium/hydrogen exchanger 9B1 that is encoded in the genome of human.


CRBA4_HUMAN Beta-crystallin A4 (sprot)

A beta-crystallin A4 that is encoded in the genome of human.


RXFP2_HUMAN Relaxin receptor 2 (sprot)

A relaxin receptor 2 that is encoded in the genome of human.


arbekacin

A kanamycin that is kanamycin B bearing an N-(2S)-4-amino-2-hydroxybutyryl group on the aminocyclitol ring.


S10AA_HUMAN Protein S100-A10 (sprot)

A protein S100-A10 that is encoded in the genome of human.


levamlodipine

The (4S)-enantiomer of amlodipine.


NRDC_HUMAN Nardilysin (sprot)

A nardilysin that is encoded in the genome of human.


name: AGR3_HUMAN Anterior gradient protein 3 (sprot)

description: An anterior gradient protein 3 that is encoded in the genome of human.


LIGUSTRAZINE

A member of the class of pyrazines that is pyrazine in which all four hydrogens have been replaced by methyl groups. An alkaloid extracted from Chuanxiong (Ligusticum  wallichii).


name: SLK_HUMAN STE20-like serine/threonine-protein kinase (sprot)

description: A STE20-like serine/threonine-protein kinase that is encoded in the genome of human.


staphylococcus aureus infection

description: An infectious process in which the bacteria Staphylococcus aureus is present.


name: GSC_HUMAN Homeobox protein goosecoid (sprot)

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


procyclidine

A tertiary alcohol that consists of propan-1-ol substituted by a cyclohexyl and a phenyl group at position 1 and a pyrrolidin-1-yl group at position 3.


name: KAD1_HUMAN Adenylate kinase isoenzyme 1 (sprot)

description: An adenylate kinase isoenzyme 1 that is encoded in the genome of human.


DTBP1_HUMAN Dysbindin (sprot)

A dysbindin that is encoded in the genome of human.


DEND syndrome

description: DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.


name: LRC8D_HUMAN Volume-regulated anion channel subunit LRRC8D (sprot)

description: A volume-regulated anion channel subunit LRRC8D that is encoded in the genome of human.


A 17alpha-hydroxy steroid that is the 17alpha-hydroxy derivative of progesterone.


name: RHG06_HUMAN Rho GTPase-activating protein 6 (sprot)

description: A Rho GTPase-activating protein 6 that is encoded in the genome of human.


tibial hemimelia

description: Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.


name: MALD2_HUMAN MARVEL domain-containing protein 2 (sprot)

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


aminohydroxybutyric acid

A gamma-amino acid comprising 4-aminobutyric acid having a 2-hydroxy substituent.


colestipol

A high molecular weight copolymer of diethylenetriamine and epichlorohydrin (hydrochloride), with approximately 1 out of 5 amine nitrogens protonated. Due to the highly cross-linked and insoluble nature of the material, no structural formula has been assigned and no specific molecular weight information is available. A basic anion exchange resin, it is used as its hydrochloride for binding bile acids in the intestine, inhibiting their reabsorption.


name: autosomal dominant keratitis-ichthyosis-hearing loss syndrome

description: Autosomal dominant form of KID syndrome.


name: FGD2_HUMAN FYVE, RhoGEF and PH domain-containing protein 2 (sprot)

description: A FYVE, RhoGEF and PH domain-containing protein 2 that is encoded in the genome of human.


allergic disease

description: An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.


betrixaban

A secondary carboxamide obtained by formal condensation of the carboxy group of 4-(N,N-dimethylcarbamimidoyl)benzoic acid with the amino group of 2-amino-N-(5-chloropyridin-2-yl)-5-methoxybenzamide. A synthetic anticoagulant compound that targets activated factor Xa in the coagulation cascade.


digestive system cancer

description: A primary or metastatic malignant neoplasm involving any part of the digestive system.


name: 1433Z_HUMAN 14-3-3 protein zeta/delta (sprot)

description: A 14-3-3 protein zeta/delta that is encoded in the genome of human.


IRIDA syndrome

description: IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


urinary schistosomiasis

description: A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.


name: EXOC2_HUMAN Exocyst complex component 2 (sprot)

description: An exocyst complex component 2 that is encoded in the genome of human.


breast lobular carcinoma

description: An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.


DDHD1_HUMAN Phospholipase DDHD1 (sprot)

A phospholipase DDHD1 that is encoded in the genome of human.


anal carcinoma

description: A carcinoma that arises from epithelial cells of the anus


name: early T cell progenitor acute lymphoblastic leukemia

description: T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.


epinastine

A benzazepine that is 6,11-dihydro-5H-dibenzo[b,e]azepine in which the azepine ring is fused to the e side of 4,5-dihydro-1H-imidazol-2-amine.


Netherton syndrome

description: Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.


name: SRRM3_HUMAN Serine/arginine repetitive matrix protein 3 (sprot)

description: A serine/arginine repetitive matrix protein 3 that is encoded in the genome of human.


name: KIF1A_HUMAN Kinesin-like protein KIF1A (sprot)

description: A kinesin-like protein KIF1A that is encoded in the genome of human.


familial cardiomyopathy

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


name: CLCB_HUMAN Clathrin light chain B (sprot)

description: A clathrin light chain B that is encoded in the genome of human.


name: NIPA2_HUMAN Magnesium transporter NIPA2 (sprot)

description: A magnesium transporter NIPA2 that is encoded in the genome of human.


name: WFDC5_HUMAN WAP four-disulfide core domain protein 5 (sprot)

description: A WAP four-disulfide core domain protein 5 that is encoded in the genome of human.


name: TTC8_HUMAN Tetratricopeptide repeat protein 8 (sprot)

description: A tetratricopeptide repeat protein 8 that is encoded in the genome of human.


PTHB1_HUMAN Protein PTHB1 (sprot)

A protein PTHB1 that is encoded in the genome of human.


Severe influenza infection

description: An unusually severe infection by an influenza virus.


duodenal ulcer

description: An ulcer in the duodenal wall.


name: ZN331_HUMAN Zinc finger protein 331 (sprot)

description: A zinc finger protein 331 that is encoded in the genome of human.


2-octynoic acid

An acetylenic fatty acid that is octanoic acid (caprylic acid) which has been doubly dehydrogenated at positions 2 and 3 to give the corresponding alkynoic acid. It is widely used in perfumes, lipstick, and many common food flavourings.


name: IFI6_HUMAN Interferon alpha-inducible protein 6 (sprot)

description: An interferon alpha-inducible protein 6 that is encoded in the genome of human.


pindolol

A member of the class of indols which is the 2-hydroxy-3-(isopropylamino)propyl ether derivative of 1H-indol-4-ol.


benproperine

A racemate comprising equimolar amounts of (R)- and (S)-benproperine. It is used as a cough suppressant in non-productive cough.


phosphatidylcholine (15:1/18:1)

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


Fuchs heterochromic iridocyclitis

description: Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.


corneal granular dystrophy

description: A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.


Antiphospholipid antibody positivity

description: The presence of circulating autoantibodies to phospholipids.


name: HNF4G_HUMAN Hepatocyte nuclear factor 4-gamma (sprot)

description: A hepatocyte nuclear factor 4-gamma that is encoded in the genome of human.


bacterial urinary tract infection

description: A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.


Hyperventilation

description: Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.


The simplest member of the class of propane-1,3-diols, consisting of propane in which one hydrogen from each methyl group is substituted by a hydroxy group. A colourless, viscous, water-miscible liquid with a high (210degreeC) boiling point, it is used in the synthesis of certain polymers and as a solvent and antifreeze.


xanthomatosis

description: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


name: TTLL9_HUMAN Probable tubulin polyglutamylase TTLL9 (sprot)

description: A probable tubulin polyglutamylase TTLL9 that is encoded in the genome of human.


bowel dysfunction

description: Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.


name: LRC32_HUMAN Transforming growth factor beta activator LRRC32 (sprot)

description: A transforming growth factor beta activator LRRC32 that is encoded in the genome of human.


lung carcinoid tumor

description: A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.


name: RBMS2_HUMAN RNA-binding motif, single-stranded-interacting protein 2 (sprot)

description: An RNA-binding motif, single-stranded-interacting protein 2 that is encoded in the genome of human.


name: UT14A_HUMAN U3 small nucleolar RNA-associated protein 14 homolog A (sprot)

description: A U3 small nucleolar RNA-associated protein 14 homolog A that is encoded in the genome of human.


SPA11_HUMAN Serpin A11 (sprot)

A serpin A11 that is encoded in the genome of human.


name: G3P_HUMAN Glyceraldehyde-3-phosphate dehydrogenase (sprot)

description: A glyceraldehyde-3-phosphate dehydrogenase that is encoded in the genome of human.


2-hydroxyglutaric acid

A 2-hydroxydicarboxylic acid that is glutaric acid in which one hydrogen alpha- to a carboxylic acid group is substituted by a hydroxy group.


name: MIEN1_HUMAN Migration and invasion enhancer 1 (sprot)

description: A migration and invasion enhancer 1 that is encoded in the genome of human.


necrotizing ulcerative gingivitis

description: A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.


TYSY_HUMAN Thymidylate synthase (sprot)

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


tavaborole

A member of the class of benzoxaboroles that is 1,3-dihydro-1-hydroxy-2,1-benzoxaborole substituted at position 5 by a fluoro group. A topical antifungal agent used for the treatment of onychomycosis (fungal infection of the toenails and fingernails).


name: SPG16_HUMAN Sperm-associated antigen 16 protein (sprot)

description: A sperm-associated antigen 16 protein that is encoded in the genome of human.


SPIN4_HUMAN Spindlin-4 (sprot)

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


name: EYA4_HUMAN Eyes absent homolog 4 (sprot)

description: An eyes absent homolog 4 that is encoded in the genome of human.


ethopropazine

A member of the class of phenothiazines that is phenothiazine in which the hydrogen attached to the nitrogen is substituted by a 2-(diethylamino)propyl group. An antimuscarinic, it is used as the hydrochloride for the symptomatic treatment of Parkinson's disease.


name: TMG2_HUMAN Transmembrane gamma-carboxyglutamic acid protein 2 (sprot)

description: A transmembrane gamma-carboxyglutamic acid protein 2 that is encoded in the genome of human.


VIOLACEIN

A member of the class of hydroxyindoles resulting from the formal oxidative coupling between the 3-position of 1,3-dihydro-2H-indol-2-one and the 3-position of 1,3-dihydro-2H-pyrrol-2-one, which is substituted at the 5 position by a 5-hydroxy-1H-indol-3-yl group, where the newly-formed double bond has E configuration. It is a purple chromobacterial pigment that has antibacterial, antifungal, antiprotozoan, and anticancer properties.


linoelaidic acid

An octadecadienoic acid containing two E (trans) double bonds at positions 9 and 12.


name: CHM1A_HUMAN Charged multivesicular body protein 1a (sprot)

description: A charged multivesicular body protein 1a that is encoded in the genome of human.


name: SFR1_HUMAN Swi5-dependent recombination DNA repair protein 1 homolog (sprot)

description: A Swi5-dependent recombination DNA repair protein 1 homolog that is encoded in the genome of human.


ferric pyrophosphate

An iron coordination entity composed from Fe(3+) cations and diphosphate(4-) anions in a 4:3 ratio.


name: RL9_HUMAN Large ribosomal subunit protein uL6 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL6 that is encoded in the genome of human.


methoxyflurane

An ether in which the two groups attached to the central oxygen atom are methyl and 2,2-dichloro-1,1-difluoroethyl.


name: REM1_HUMAN GTP-binding protein REM 1 (sprot)

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


TRIETHYLENE GLYCOL

A poly(ethylene glycol) that is octane-1,8-diol in which the carbon atoms at positions 3 and 6 have been replaced by oxygen atoms.


cytosine

An aminopyrimidine that is pyrimidin-2-one having the amino group located at position 4.


name: SIA7B_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (sprot)

description: An alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 that is encoded in the genome of human.


HEXACOSANOIC ACID

A 26-carbon, straight-chain, saturated fatty acid.


ceftolozane

A fifth-generation cephalosporin antibiotic having (5-amino-4-{[(2-aminoethyl)carbamoyl]amino}-1-methyl-1H-pyrazol-2-ium-2-yl)methyl and [(2Z)-2-(5-amino-1,2,4-thiadiazol-3-yl)-2-{[(2-carboxypropan-2-yl)oxy]imino}acetyl]amino side groups located at positions 3 and 7 respectively; developed for the treatment of infections with gram-negative bacteria that have become resistant to conventional antibiotics.


dental caries

description: The decay of a tooth, in which it becomes softened, discolored, and/or porous.


TAZAROTENIC ACID

A thiochromane that is acetylene in which the hydrogens are replaced by 5-carboxypyridin-2-yl and 4,4-dimethylthiochroman-6-yl groups. It is the active form of the prodrug tazarotene.


name: MAAI_HUMAN Maleylacetoacetate isomerase (sprot)

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


name: OTUL_HUMAN Ubiquitin thioesterase otulin (sprot)

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


name: RM36_HUMAN Large ribosomal subunit protein bL36m (sprot)

description: A large ribosomal subunit protein bL36m that is encoded in the genome of human.


name: CPEB2_HUMAN Cytoplasmic polyadenylation element-binding protein 2 (sprot)

description: A cytoplasmic polyadenylation element-binding protein 2 that is encoded in the genome of human.


name: ASM3B_HUMAN Acid sphingomyelinase-like phosphodiesterase 3b (sprot)

description: An acid sphingomyelinase-like phosphodiesterase 3b that is encoded in the genome of human.


ACES_HUMAN Acetylcholinesterase (sprot)

An acetylcholinesterase that is encoded in the genome of human.


nitrone

A nitrogen ylide obtained by oxygenation of any imine.


gonococcal urethritis

description: Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.


name: V1AR_HUMAN Vasopressin V1a receptor (sprot)

description: A vasopressin V1a receptor that is encoded in the genome of human.


name: MON1B_HUMAN Vacuolar fusion protein MON1 homolog B (sprot)

description: A vacuolar fusion protein MON1 homolog B that is encoded in the genome of human.


name: MAFF_HUMAN Transcription factor MafF (sprot)

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


name: GBP3_HUMAN Guanylate-binding protein 3 (sprot)

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


name: progesterone-receptor positive breast cancer


Akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.


name: TTC29_HUMAN Tetratricopeptide repeat protein 29 (sprot)

description: A tetratricopeptide repeat protein 29 that is encoded in the genome of human.


dantron

A dihydroxyanthraquinone that is anthracene-9,10-dione substituted by hydroxy groups at positions 1 and 8.


name: developmental defect during embryogenesis

description: A disease that has its basis in the disruption of embryonic morphogenesis.


central nervous system germ cell tumor

description: A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.


name: TAFA3_HUMAN Chemokine-like protein TAFA-3 (sprot)

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


name: DCLK2_HUMAN Serine/threonine-protein kinase DCLK2 (sprot)

description: A serine/threonine-protein kinase DCLK2 that is encoded in the genome of human.


Eosinophilic gallbladder infiltration

description: Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.


name: CCL27_HUMAN C-C motif chemokine 27 (sprot)

description: A C-C motif chemokine 27 that is encoded in the genome of human.


RTN1_HUMAN Reticulon-1 (sprot)

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


acquired ataxia

description: A type of ataxia that is acquired during the lifetime of the individual.


congenital anemia

description: Anemia, the cause of which is present at birth.


name: CCL16_HUMAN C-C motif chemokine 16 (sprot)

description: A C-C motif chemokine 16 that is encoded in the genome of human.


Brown-Sequard syndrome

description: Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.


name: MYO16_HUMAN Unconventional myosin-XVI (sprot)

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


torsion dystonia

description: Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.


Asymptomatic hyperammonemia

description: An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.


Malabsorption

description: Impaired ability to absorb one or more nutrients from the intestine.


Mowat-Wilson syndrome

description: Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.


name: SBK1_HUMAN Serine/threonine-protein kinase SBK1 (sprot)

description: A serine/threonine-protein kinase SBK1 that is encoded in the genome of human.


name: PHOSPHOAMINOPHOSPHONIC ACID GUANYLATE ESTER

description: A nucleoside triphosphate analogue that is GTP in which the oxygen atom bridging the beta- to the gamma- phosphate is replaced by a nitrogen atom A non-hydrolyzable analog of GTP, it binds tightly to G-protein in the presence of Mg(2+).


alpha-heavy chain disease

description: Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.


name: CIRBP_HUMAN Cold-inducible RNA-binding protein (sprot)

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


AMPB_HUMAN Aminopeptidase B (sprot)

An aminopeptidase B that is encoded in the genome of human.


name: NU4M_HUMAN NADH-ubiquinone oxidoreductase chain 4 (sprot)

description: An NADH-ubiquinone oxidoreductase chain 4 that is encoded in the genome of human.


amobarbital

A member of the class of  barbiturates that is pyrimidine-2,4,6(1H,3H,5H)-trione substituted by a 3-methylbutyl and an ethyl group at position 5. Amobarbital has been shown to exhibit sedative and hypnotic properties.


cis-aconitic acid

The cis-isomer of aconitic acid.


gastrointestinal polyp

description: A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.


Rasmussen subacute encephalitis

description: A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.


name: SERB1_HUMAN SERPINE1 mRNA-binding protein 1 (sprot)

description: A SERPINE1 mRNA-binding protein 1 that is encoded in the genome of human.


name: TAOK3_HUMAN Serine/threonine-protein kinase TAO3 (sprot)

description: A serine/threonine-protein kinase TAO3 that is encoded in the genome of human.


name: ODFP2_HUMAN Outer dense fiber protein 2 (sprot)

description: An outer dense fiber protein 2 that is encoded in the genome of human.


name: RL15_HUMAN Large ribosomal subunit protein eL15 (sprot)

description: A large ribosomal subunit protein eL15 that is encoded in the genome of human.


name: primary focal segmental glomerulosclerosis

description: A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.


name: OMGP_HUMAN Oligodendrocyte-myelin glycoprotein (sprot)

description: An oligodendrocyte-myelin glycoprotein that is encoded in the genome of human.


name: CHM2A_HUMAN Charged multivesicular body protein 2a (sprot)

description: A charged multivesicular body protein 2a that is encoded in the genome of human.


name: MMP15_HUMAN Matrix metalloproteinase-15 (sprot)

description: A matrix metalloproteinase-15 that is encoded in the genome of human.


BARBITURIC ACID

A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups.  Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active.


name: CLCN5_HUMAN H(+)/Cl(-) exchange transporter 5 (sprot)

description: An H(+)/Cl(-) exchange transporter 5 that is encoded in the genome of human.


transfluthrin

A carboxylic ester obtained by formal condensation of 3-(2,2-dichlorovinyl)-2,2-dimethylcyclopropanecarboxylic acid and 2,3,5,6-tetrafluorobenzyl alcohol.


name: VPS41_HUMAN Vacuolar protein sorting-associated protein 41 homolog (sprot)

description: A vacuolar protein sorting-associated protein 41 that is encoded in the genome of human.


name: glycogen storage disease due to glycogen branching enzyme deficiency

description: Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.


name: T126B_HUMAN Complex I assembly factor TMEM126B, mitochondrial (sprot)

description: A complex I assembly factor TMEM126B, mitochondrial that is encoded in the genome of human.


name: TR150_HUMAN Thyroid hormone receptor-associated protein 3 (sprot)

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


name: RT06_HUMAN Small ribosomal subunit protein bS6m (sprot)

description: A small ribosomal subunit protein bS6m that is encoded in the genome of human.


name: ZDHC4_HUMAN Palmitoyltransferase ZDHHC4 (sprot)

description: A palmitoyltransferase ZDHHC4 that is encoded in the genome of human.


testicular embryonal carcinoma

description: A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.


juvenile xanthogranuloma

description: A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.


ADP-alpha-D-ribose

An ADP-D-ribose with beta configuration at the anomeric centre.


name: MAP9_HUMAN Microtubule-associated protein 9 (sprot)

description: A microtubule-associated protein 9 that is encoded in the genome of human.


dalfopristin

A macrolide that is pristinamycin IIA in which the double bond between positions 26 and 26a of the pyrroline ring has been reduced and position 26R carries a [2-(diethylamino)ethyl]sulfonyl group. It is a semi-synthetic streptogramin antibiotic and often used as a mixture with quinupristin for the treatment of vancomycin-resistant Enterococcus faecium.


spongiotic dermatitis

description: A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.


hyperkalemic renal tubular acidosis

description: Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.


name: OTU6B_HUMAN Deubiquitinase OTUD6B (sprot)

description: A deubiquitinase OTUD6B that is encoded in the genome of human.


name: LMTK2_HUMAN Serine/threonine-protein kinase LMTK2 (sprot)

description: A serine/threonine-protein kinase LMTK2 that is encoded in the genome of human.


name: NDUAC_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 that is encoded in the genome of human.


name: SUCA_HUMAN Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (sprot)

description: A succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial that is encoded in the genome of human.


Exercise-induced asthma

description: Asthma attacks following exercise.


name: S22AD_HUMAN Solute carrier family 22 member 13 (sprot)

description: A solute carrier family 22 member 13 that is encoded in the genome of human.


TWF1_HUMAN Twinfilin-1 (sprot)

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


name: ZNF2_HUMAN Zinc finger protein 2 (sprot)

description: A zinc finger protein 2 that is encoded in the genome of human.


name: MUT7_HUMAN Exonuclease mut-7 homolog (sprot)

description: An exonuclease mut-7 homolog that is encoded in the genome of human.


name: LRC15_HUMAN Leucine-rich repeat-containing protein 15 (sprot)

description: A leucine-rich repeat-containing protein 15 that is encoded in the genome of human.


name: MCUR1_HUMAN Mitochondrial calcium uniporter regulator 1 (sprot)

description: A coiled-coil domain-containing protein 90A, mitochondrial that is encoded in the genome of human.


name: isolated focal cortical dysplasia type II

description: A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.


name: TXN4A_HUMAN Thioredoxin-like protein 4A (sprot)

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


name: ASIP_HUMAN Agouti-signaling protein (sprot)

description: An agouti-signaling protein that is encoded in the genome of human.


SCG3_HUMAN Secretogranin-3 (sprot)

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


DMXL2_HUMAN DmX-like protein 2 (sprot)

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


name: GPR6_HUMAN G-protein coupled receptor 6 (sprot)

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


name: SLBP_HUMAN Histone RNA hairpin-binding protein (sprot)

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


name: PLPP6_HUMAN Polyisoprenoid diphosphate/phosphate phosphohydrolase PLPP6 (sprot)

description: A polyisoprenoid diphosphate/phosphate phosphohydrolase PLPP6 that is encoded in the genome of human.


description: Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.


CBLN1_HUMAN Cerebellin-1 (sprot)

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


ovarian sarcoma

description: A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.


leukocyte adhesion deficiency

description: Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.


name: 2ABB_HUMAN Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform (sprot)

description: A serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform that is encoded in the genome of human.


eyelid melanoma

description: A melanoma that arises from the upper or lower eyelid.


ZAR1L_HUMAN Protein ZAR1-like (sprot)

A protein ZAR1-like that is encoded in the genome of human.


name: NUDT9_HUMAN ADP-ribose pyrophosphatase, mitochondrial (sprot)

description: An ADP-ribose pyrophosphatase, mitochondrial that is encoded in the genome of human.


name: LPIN2_HUMAN Phosphatidate phosphatase LPIN2 (sprot)

description: A phosphatidate phosphatase LPIN2 that is encoded in the genome of human.


name: TRAM2_HUMAN Translocating chain-associated membrane protein 2 (sprot)

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


UR2R_HUMAN Urotensin-2 receptor (sprot)

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


name: FNDC1_HUMAN Fibronectin type III domain-containing protein 1 (sprot)

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


crotonate

The conjugate base of crotonic acid; used by some bacterial species as a carbon and energy source.


name: RT34_HUMAN Small ribosomal subunit protein mS34 (sprot)

description: A small ribosomal subunit protein mS34 that is encoded in the genome of human.


familial renal glucosuria

description: Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).


name: IGHG1_HUMAN Immunoglobulin heavy constant gamma 1 (sprot)

description: An immunoglobulin heavy constant gamma 1 that is encoded in the genome of human.


name: VSX1_HUMAN Visual system homeobox 1 (sprot)

description: A visual system homeobox 1 that is encoded in the genome of human.


name: VACHT_HUMAN Vesicular acetylcholine transporter (sprot)

description: A vesicular acetylcholine transporter that is encoded in the genome of human.


name: ATS20_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 20 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 20 that is encoded in the genome of human.


name: PPR3B_HUMAN Protein phosphatase 1 regulatory subunit 3B (sprot)

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


name: CLK3_HUMAN Dual specificity protein kinase CLK3 (sprot)

description: A dual specificity protein kinase CLK3 that is encoded in the genome of human.


name: LRRT2_HUMAN Leucine-rich repeat transmembrane neuronal protein 2 (sprot)

description: A leucine-rich repeat transmembrane neuronal protein 2 that is encoded in the genome of human.


pure mitochondrial myopathy

description: Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.


name: F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 (sprot)

description: A 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 that is encoded in the genome of human.


scrotum squamous cell carcinoma

description: A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.


ERFE_HUMAN Erythroferrone (sprot)

An erythroferrone that is encoded in the genome of human.


name: GNA11_HUMAN Guanine nucleotide-binding protein subunit alpha-11 (sprot)

description: A guanine nucleotide-binding protein subunit alpha-11 that is encoded in the genome of human.


name: USP9X_HUMAN Ubiquitin carboxyl-terminal hydrolase 9X (sprot)

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


Oncogenic osteomalacia

description: Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.


name: ISX_HUMAN Intestine-specific homeobox (sprot)

description: An intestine-specific homeobox that is encoded in the genome of human.


Proximal muscle weakness

description: A lack of strength of the proximal muscles.


name: PEAK1_HUMAN Inactive tyrosine-protein kinase PEAK1 (sprot)

description: An inactive tyrosine-protein kinase PEAK1 that is encoded in the genome of human.


malignant germ cell tumor

description: A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.


OXYMETAZOLINE HYDROCHLORIDE

A hydrochloride salt resulting from the reaction of equimolar quantities of oxymetazoline and hydrogen chloride. A direct-acting sympathomimetic with marked alpha-adrenergic activity, it is a vasoconstrictor that is used to relieve nasal congestion.


name: CWC22_HUMAN Pre-mRNA-splicing factor CWC22 homolog (sprot)

description: A pre-mRNA-splicing factor CWC22 that is encoded in the genome of human.


name: NCLN_HUMAN BOS complex subunit NCLN (sprot)

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


endocervical carcinoma

description: A carcinoma that arises from epithelial cells of the endocervix.


name: TCPR1_HUMAN Tectonin beta-propeller repeat-containing protein 1 (sprot)

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


juvenile amyotrophic lateral sclerosis

description: Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.


name: SNAG_HUMAN Gamma-soluble NSF attachment protein (sprot)

description: A gamma-soluble NSF attachment protein that is encoded in the genome of human.


guanosine 2'-monophosphate

A purine ribonucleoside 2'-monophosphate having guanine as the nucleobase.


Rhabdoid tumor of the ovary

description: A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.


P4R3C_HUMAN Protein PPP4R3C (sprot)

A protein that is a translation product of the PPP4R3C gene in human.


MUSC_HUMAN Musculin (sprot)

A musculin that is encoded in the genome of human.


name: NU214_HUMAN Nuclear pore complex protein Nup214 (sprot)

description: A nuclear pore complex protein Nup214 that is encoded in the genome of human.


name: NUP88_HUMAN Nuclear pore complex protein Nup88 (sprot)

description: A nuclear pore complex protein Nup88 that is encoded in the genome of human.


name: CAPG_HUMAN Macrophage-capping protein (sprot)

description: A macrophage-capping protein that is encoded in the genome of human.


APOA_HUMAN Apolipoprotein(a) (sprot)

An apolipoprotein(a) that is encoded in the genome of human.


name: RHOQ_HUMAN Rho-related GTP-binding protein RhoQ (sprot)

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


name: CEP78_HUMAN Centrosomal protein of 78 kDa (sprot)

description: A centrosomal protein of 78 kDa that is encoded in the genome of human.


name: SIRB1_HUMAN Signal-regulatory protein beta-1 (sprot)

description: A signal-regulatory protein beta-1 (human), isoforms 1 and 2.


GPC2_HUMAN Glypican-2 (sprot)

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


TIPRL_HUMAN TIP41-like protein (sprot)

A TIP41-like protein that is encoded in the genome of human.


auditory neuropathy

description: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.


name: FSD1_HUMAN Fibronectin type III and SPRY domain-containing protein 1 (sprot)

description: A fibronectin type III and SPRY domain-containing protein 1 that is encoded in the genome of human.


autoimmune thyroid disease

description: Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.


Cockayne syndrome

description: A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.


name: LAIR2_HUMAN Leukocyte-associated immunoglobulin-like receptor 2 (sprot)

description: A leukocyte-associated immunoglobulin-like receptor 2 that is encoded in the genome of human.


name: IRPL1_HUMAN Interleukin-1 receptor accessory protein-like 1 (sprot)

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


PROF2_HUMAN Profilin-2 (sprot)

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


dihydroceramide

An N-acylsphingoid obtained by formal condensation of the carboxy group of any fatty acid with the amino group of any dihydrosphingoid base.


Geographic atrophy

description: Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.


lung giant cell carcinoma

description: A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.


tumor of duodenum

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


rebaudioside A

A rebaudioside that is rubusoside in which the hydroxy groups at positions 3 and 4 of the beta-D-glucopyranosyloxy group at the 13alpha position have both been converted to the corresponding beta-D-glucopyranoside.


name: CLTR1_HUMAN Cysteinyl leukotriene receptor 1 (sprot)

description: A cysteinyl leukotriene receptor 1 that is encoded in the genome of human.


name: OSBL8_HUMAN Oxysterol-binding protein-related protein 8 (sprot)

description: An oxysterol-binding protein-related protein 8 that is encoded in the genome of human.


name: ASAP2_HUMAN Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 (sprot)

description: An Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 that is encoded in the genome of human.


primary hyperoxaluria type 1

description: A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.


ACETOPHENONE

A methyl ketone that is acetone in which one of the methyl groups has been replaced by a phenyl group.


name: GORS2_HUMAN Golgi reassembly-stacking protein 2 (sprot)

description: A Golgi reassembly-stacking protein 2 that is encoded in the genome of human.


name: DBX1_HUMAN Homeobox protein DBX1 (sprot)

description: A homeobox protein DBX1 that is encoded in the genome of human.


name: NDUF5_HUMAN Arginine-hydroxylase NDUFAF5, mitochondrial (sprot)

description: An arginine-hydroxylase NDUFAF5, mitochondrial that is encoded in the genome of human.


name: Pelizaeus-Merzbacher disease, connatal form

description: The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.


Diaphyseal sclerosis

description: An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.


BUTYRAMIDE

A monocarboxylic acid amide obtained by formal condensation of butanoic acid and ammonia.


canine oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a dog.


name: RBM10_HUMAN RNA-binding protein 10 (sprot)

description: An RNA-binding protein 10 that is encoded in the genome of human.


name: MESP2_HUMAN Mesoderm posterior protein 2 (sprot)

description: A mesoderm posterior protein 2 that is encoded in the genome of human.


name: MFSD1_HUMAN Major facilitator superfamily domain-containing protein 1 (sprot)

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


name: FAKD2_HUMAN FAST kinase domain-containing protein 2, mitochondrial (sprot)

description: A FAST kinase domain-containing protein 2, mitochondrial that is encoded in the genome of human.


autoimmune gastritis

description: Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.


CASA1_HUMAN Alpha-S1-casein (sprot)

An alpha-S1-casein that is encoded in the genome of human.


name: TIGD3_HUMAN Tigger transposable element-derived protein 3 (sprot)

description: A tigger transposable element-derived protein 3 that is encoded in the genome of human.


name: ARMS2_HUMAN Age-related maculopathy susceptibility protein 2 (sprot)

description: An age-related maculopathy susceptibility protein 2 that is encoded in the genome of human.


CARBAMIC ACID

A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised.


name: RUFY1_HUMAN RUN and FYVE domain-containing protein 1 (sprot)

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


TB15A_HUMAN Thymosin beta-15A (sprot)

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


Follicular hyperplasia

description: Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.


mixed germ cell tumor

description: A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.


hereditary nonpolyposis colon cancer

description: Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.


name: SRTD3_HUMAN SERTA domain-containing protein 3 (sprot)

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


RTKN_HUMAN Rhotekin (sprot)

A rhotekin that is encoded in the genome of human.


LPXN_HUMAN Leupaxin (sprot)

A leupaxin that is encoded in the genome of human.


SNX5_HUMAN Sorting nexin-5 (sprot)

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


tacedinaline

A benzamide obtained by formal condensation of the carboxy group of 4-acetamidobenzoic acid with one of the amino groups of 1,2-phenylenediamine. An oral cytostatic drug with impressive differential activity against leukemic cells and normal stem-cells. Also used in combination therapy for selected tumors including non-smoll cell lung, pancreatic, breast, and colorectal cancers.


docosanol

A long-chain primary fatty alcohol that is docosane substituted by a hydroxy group at position 1. It is a non-prescription medicine approved by the FDA to shorten healing time of cold sores.


pasteurellosis

description: Infections with bacteria of the genus pasteurella.


dimethicone

A polydimethylsiloxane macromolecule, composed of dimethylsiloxane repeating units.


tungiasis

description: An disease or disorder caused by infection with Tunga penetrans.


name: ENPP5_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 5 (sprot)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 5 that is encoded in the genome of human.


mitoguazone

A hydrazone obtained by formal condensation of the two carbonyl groups of methylglyoxal with the primary amino groups of two molecules of aminoguanidine.


name: DDX41_HUMAN Probable ATP-dependent RNA helicase DDX41 (sprot)

description: A probable ATP-dependent RNA helicase DDX41 that is encoded in the genome of human.


name: PORED_HUMAN Polyprenol reductase (sprot)

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


Baller-Gerold syndrome

description: Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


Renal interstitial inflammation

description: Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.


name: IRX2_HUMAN Iroquois-class homeodomain protein IRX-2 (sprot)

description: An iroquois-class homeodomain protein IRX-2 that is encoded in the genome of human.


AMPD1_HUMAN AMP deaminase 1 (sprot)

An AMP deaminase 1 that is encoded in the genome of human.


name: SPP2B_HUMAN Signal peptide peptidase-like 2B (sprot)

description: A signal peptide peptidase-like 2B that is encoded in the genome of human.


Urinary incontinence

description: Loss of the ability to control the urinary bladder leading to involuntary urination.


histiocytoid cardiomyopathy

description: Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


dopa-responsive dystonia

description: Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.


name: TGS1_HUMAN Trimethylguanosine synthase (sprot)

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


all-trans-violaxanthin

The all-trans-stereoisomer of violaxanthin.


name: SLX1_HUMAN Structure-specific endonuclease subunit SLX1 (sprot)

description: A structure-specific endonuclease subunit SLX1 that is encoded in the genome of human.


MIDN_HUMAN Midnolin (sprot)

A midnolin that is encoded in the genome of human.


name: G6PT2_HUMAN Glucose-6-phosphate exchanger SLC37A1 (sprot)

description: A glucose-6-phosphate exchanger SLC37A1 that is encoded in the genome of human.


inflammatory diarrhea

description: An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.


Chronic hemolytic anemia

description: An chronic form of hemolytic anemia.


Abnormal dental enamel morphology

description: An abnormality of the dental enamel.


cardiolipin (18:2/18:2/18:2/18:3)

A cardiolipin in which three of the acyl groups are octadecadienoyl while the remaining one is octadecatrienoyl


name: SORC2_HUMAN VPS10 domain-containing receptor SorCS2 (sprot)

description: A VPS10 domain-containing receptor SorCS2 that is encoded in the genome of human.


ovarian clear cell adenocarcinoma

description: A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.


name: BBS1_HUMAN Bardet-Biedl syndrome 1 protein (sprot)

description: A Bardet-Biedl syndrome 1 protein that is encoded in the genome of human.


name: CHSTE_HUMAN Carbohydrate sulfotransferase 14 (sprot)

description: A carbohydrate sulfotransferase 14 that is encoded in the genome of human.


name: APC10_HUMAN Anaphase-promoting complex subunit 10 (sprot)

description: An anaphase-promoting complex subunit 10 that is encoded in the genome of human.


name: CIP1_HUMAN E3 ubiquitin-protein ligase CCNB1IP1 (sprot)

description: An E3 ubiquitin-protein ligase CCNB1IP1 that is encoded in the genome of human.


name: PRR19_HUMAN Proline-rich protein 19 (sprot)

description: A proline-rich protein 19 that is encoded in the genome of human.


lower lip cancer

description: A malignant neoplasm involving the lower lip.


ritlecitinib

A pyrrolopyrimidine that is 7H-pyrrolo[2,3-d]pyrimidine substituted at position 4 by a [(3R,6S)-6-methyl-1-(prop-2-enoyl)piperidin-3-yl]amino group. It is a dual inhibitor of Janus kinase 3 and the TEC family of tyrosine kinases.


name: TYY1_HUMAN Transcriptional repressor protein YY1 (sprot)

description: A transcriptional repressor protein YY1 that is encoded in the genome of human.


lasalocid

A polyether antibiotic used for prevention and treatment of coccidiosis in poultry.


name: PLPL6_HUMAN Patatin-like phospholipase domain-containing protein 6 (sprot)

description: A patatin-like phospholipase domain-containing protein 6 that is encoded in the genome of human.


childhood medulloblastoma

description: A medulloblastoma occurring in children.


name: CABP1_HUMAN Calcium-binding protein 1 (sprot)

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


periapical granuloma

description: Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.


name: progressive demyelinating neuropathy with bilateral striatal necrosis

description: Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.


name: STR3N_HUMAN STARD3 N-terminal-like protein (sprot)

description: A STARD3 N-terminal-like protein that is encoded in the genome of human.


name: ATP8_HUMAN ATP synthase protein 8 (sprot)

description: An ATP synthase protein 8 that is encoded in the genome of human.


name: TMM79_HUMAN Transmembrane protein 79 (sprot)

description: A transmembrane protein 79 that is encoded in the genome of human.


name: CLASR_HUMAN CLK4-associating serine/arginine rich protein (sprot)

description: A CLK4-associating serine/arginine rich protein that is encoded in the genome of human.


name: MEG10_HUMAN Multiple epidermal growth factor-like domains protein 10 (sprot)

description: A multiple epidermal growth factor-like domains protein 10 that is encoded in the genome of human.


name: CARTF_HUMAN Calcium-responsive transcription factor (sprot)

description: A calcium-responsive transcription factor that is encoded in the genome of human.


name: TUTLA_HUMAN Protein turtle homolog A (sprot)

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


pineoblastoma

description: Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.


name: SURF1_HUMAN Surfeit locus protein 1 (sprot)

description: A surfeit locus protein 1 that is encoded in the genome of human.


PHOSPHORYLETHANOLAMINE

The ethanolamine mono-ester of phosphoric acid, and a metabolite of phospholipid metabolism. This phosphomonoester shows strong structural similarity to the inhibitory neurotransmitter GABA, and is decreased in post-mortem Alzheimer's disease brain.


name: RRAGB_HUMAN Ras-related GTP-binding protein B (sprot)

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


canine mastocytoma

description: A tumor composed of mast cells that occurs in dogs.


ovarian squamous cell carcinoma

description: A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.


encephalitis lethargica

description: A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.


cat-scratch disease

description: Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.


renal artery obstruction

description: Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).


alcohol dependence

description: Physical and psychological dependence on alcohol.


leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


MATN3_HUMAN Matrilin-3 (sprot)

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


P_HUMAN P protein (sprot)

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


SNX11_HUMAN Sorting nexin-11 (sprot)

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


adenomatous colon polyp

description: A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


name: IKBD_HUMAN NF-kappa-B inhibitor delta (sprot)

description: An NF-kappa-B inhibitor delta that is encoded in the genome of human.


name: UBE2B_HUMAN Ubiquitin-conjugating enzyme E2 B (sprot)

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


name: SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like protein 1 (sprot)

description: An S-adenosylhomocysteine hydrolase-like protein 1 that is encoded in the genome of human.


elacestrant

A member of the class of tetralins that is 1,2,3,4-tetrahydronaphthalene which is substituted by hydroxy group at position 2 and by a 2-(ethyl{4-[2-(ethylamino)ethyl]benzyl}amino)-4-methoxyphenyl group at position 6R. It is a is an estrogen receptor degrader indicated for the treatment of postmenopausal women or adult men, with ER-positive, HER2-negative, ESR1-mutated advanced or metastatic breast cancer with disease progression following at least one line of endocrine therapy.


sarcomatoid mesothelioma

description: A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


name: B3GN5_HUMAN Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase (sprot)

description: A UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 that is encoded in the genome of human.


name: KAP1_HUMAN cAMP-dependent protein kinase type I-beta regulatory subunit (sprot)

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


name: OPSG_HUMAN Medium-wave-sensitive opsin 1 (sprot)

description: A medium-wave-sensitive opsin (human) that is a translation product of the OPN1MW gene in human.


white muscle disease

description: A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)


name: NR2E1_HUMAN Nuclear receptor subfamily 2 group E member 1 (sprot)

description: A nuclear receptor subfamily 2 group E member 1 that is encoded in the genome of human.


name: WBP1L_HUMAN WW domain binding protein 1-like (sprot)

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


name: MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 (sprot)

description: A MAP/microtubule affinity-regulating kinase 4 that is encoded in the genome of human.


calcein am

An organic heteropentacyclic compound that is  calcein in which all four carboxy group hydrogens have been substituted by (acetyloxy)methoxy groups and the hyrodgens of the two hydroxy groups have been substituted by acetyl groups. It is a a non-fluorescent probe cleaved to a fluorescent probe by non-specific intracellular esterases.


name: SWP70_HUMAN Switch-associated protein 70 (sprot)

description: A switch-associated protein 70 that is encoded in the genome of human.


name: RFIP5_HUMAN Rab11 family-interacting protein 5 (sprot)

description: A Rab11 family-interacting protein 5 that is encoded in the genome of human.


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


name: S39A6_HUMAN Zinc transporter ZIP6 (sprot)

description: A zinc transporter ZIP6 that is encoded in the genome of human.


KYNU_HUMAN Kynureninase (sprot)

A kynureninase that is encoded in the genome of human.


name: OGFD1_HUMAN Prolyl 3-hydroxylase OGFOD1 (sprot)

description: A prolyl 3-hydroxylase OGFOD1 that is encoded in the genome of human.


achlorhydria

description: Absence of hydrochloric acid in the gastric juice.


name: NUMA1_HUMAN Nuclear mitotic apparatus protein 1 (sprot)

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


name: SAC31_HUMAN SAC3 domain-containing protein 1 (sprot)

description: A SAC3 domain-containing protein 1 that is encoded in the genome of human.


keratoacanthoma

description: A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.


name: OAZ3_HUMAN Ornithine decarboxylase antizyme 3 (sprot)

description: An ornithine decarboxylase antizyme 3 that is encoded in the genome of human.


name: R4RL2_HUMAN Reticulon-4 receptor-like 2 (sprot)

description: A reticulon-4 receptor-like 2 that is encoded in the genome of human.


name: NB5R1_HUMAN NADH-cytochrome b5 reductase 1 (sprot)

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


mucinous cystadenocarcinoma

description: An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.


Any carbohydrate derivative that consists of glycan moieties covalently attached to the side chains of the amino acid residues that constitute the peptide.


name: ATAD5_HUMAN ATPase family AAA domain-containing protein 5 (sprot)

description: An ATPase family AAA domain-containing protein 5 that is encoded in the genome of human.


Pancreatic abscess

description: A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.


name: AP4A_HUMAN Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] (sprot)

description: A bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] that is encoded in the genome of human.


name: CRTAP_HUMAN Cartilage-associated protein (sprot)

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


CPNE8_HUMAN Copine-8 (sprot)

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


name: urinary bladder small cell neuroendocrine carcinoma

description: A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.


bis-tris propane

A water-soluble buffer substance used for the preparation of the biochemical and biological buffer solutions; pKa = 6.8 at 20 degreeC.


name: MRCKA_HUMAN Serine/threonine-protein kinase MRCK alpha (sprot)

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


nomifensine

An N-methylated tetrahydroisoquinoline carrying phenyl and amino substituents at positions C-4 and C-8, respectively.


name: LHPL5_HUMAN LHFPL tetraspan subfamily member 5 protein (sprot)

description: An LHFPL tetraspan subfamily member 5 protein that is encoded in the genome of human.


name: ARL15_HUMAN ADP-ribosylation factor-like protein 15 (sprot)

description: An ADP-ribosylation factor-like protein 15 that is encoded in the genome of human.


name: CEA18_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 18 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 18 that is encoded in the genome of human.


name: SPRE2_HUMAN Sprouty-related, EVH1 domain-containing protein 2 (sprot)

description: A sprouty-related, EVH1 domain-containing protein 2 that is encoded in the genome of human.


lymphoid interstitial pneumonia

description: Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.


lobular breast carcinoma in situ

description: A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.


Marfan syndrome

description: A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.


An androstanoid that is androst-5-ene bearing two oxo substituents at positions 3 and 17.


name: CLCKA_HUMAN Chloride channel protein ClC-Ka (sprot)

description: A chloride channel protein ClC-Ka that is encoded in the genome of human.


name: CSK22_HUMAN Casein kinase II subunit alpha' (sprot)

description: A casein kinase II subunit alpha' that is encoded in the genome of human.


FA83G_HUMAN Protein FAM83G (sprot)

A protein FAM83G that is encoded in the genome of human.


name: AP4B1_HUMAN AP-4 complex subunit beta-1 (sprot)

description: An AP-4 complex subunit beta-1 that is encoded in the genome of human.


Raynaud disease

description: An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.


chronic gingivitis

description: Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.


name: systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

description: Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).


pudendal neuralgia

description: Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.


ASTRB_HUMAN Protein Aster-B (sprot)

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


name: UFSP1_HUMAN Inactive Ufm1-specific protease 1 (sprot)

description: An inactive Ufm1-specific protease 1 that is encoded in the genome of human.


lymphangiomyoma

description: A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.


name: TJB23_HUMAN T cell receptor beta joining 2-3 (sprot)

description: A protein that is a translation product of the TRBJ2-3 gene in human.


name: ENAH_HUMAN Protein enabled homolog (sprot)

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


periostitis

description: Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)


osteogenesis imperfecta type 5

description: Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).


name: DCP1A_HUMAN mRNA-decapping enzyme 1A (sprot)

description: An mRNA-decapping enzyme 1A that is encoded in the genome of human.


SCRN1_HUMAN Secernin-1 (sprot)

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


name: NAT8B_HUMAN Putative N-acetyltransferase 8B (sprot)

description: A putative N-acetyltransferase 8B that is encoded in the genome of human.


name: REPS1_HUMAN RalBP1-associated Eps domain-containing protein 1 (sprot)

description: A RalBP1-associated Eps domain-containing protein 1 that is encoded in the genome of human.


carisoprodol

A carbamate ester that is the mono-N-isopropyl derivative of meprobamate (which is a significant metabolite). Carisoprodol  interrupts neuronal communication within the reticular formation and spinal cord, resulting in sedation and alteration in pain perception. It is used as a muscle relaxant in the symptomatic treatment of musculoskeletal conditions associated with painful muscle spasm.


name: AGRA1_HUMAN Adhesion G protein-coupled receptor A1 (sprot)

description: An adhesion G protein-coupled receptor A1 that is encoded in the genome of human.


name: LFNG_HUMAN Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (sprot)

description: A beta-1,3-N-acetylglucosaminyltransferase lunatic fringe that is encoded in the genome of human.


name: UBP37_HUMAN Ubiquitin carboxyl-terminal hydrolase 37 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 37 that is encoded in the genome of human.


citrullinemia

description: Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).