light chain deposition disease

description: Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.


RC3H1_HUMAN Roquin-1 (sprot)

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


name: ATS7_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 7 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 7 that is encoded in the genome of human.


name: TM86A_HUMAN Lysoplasmalogenase TMEM86A (sprot)

description: A lysoplasmalogenase TMEM86A that is encoded in the genome of human.


SNG1_HUMAN Synaptogyrin-1 (sprot)

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


name: R51A2_HUMAN RAD51-associated protein 2 (sprot)

description: A RAD51-associated protein 2 that is encoded in the genome of human.


name: ENOX2_HUMAN Ecto-NOX disulfide-thiol exchanger 2 (sprot)

description: An ecto-NOX disulfide-thiol exchanger 2 that is encoded in the genome of human.


name: T2R14_HUMAN Taste receptor type 2 member 14 (sprot)

description: A taste receptor type 2 member 14 that is encoded in the genome of human.


almotriptan

An indole compound having a 2-(dimethylamino)ethyl group at the 3-position and a (pyrrolidin-1-ylsulfonyl)methyl group at the 5-position.


name: DDX56_HUMAN Probable ATP-dependent RNA helicase DDX56 (sprot)

description: A probable ATP-dependent RNA helicase DDX56 that is encoded in the genome of human.


Transient neutropenia

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

description: A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.


Medial arterial calcification

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.


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

description: A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2.


epithelioid hemangioma

description: A hemangioma characterized by the presence of epithelioid endothelial cells.


EUPATILIN

A trimethoxyflavone that is flavone substituted by hydroxy groups at C-5 and C-7 and methoxy groups at C-6, C-3' and C-4' respectively. Isolated from Citrus reticulata and Salvia tomentosa, it exhibits anti-inflammatory, anti-ulcer and antineoplastic activities.


A tryptamine alkaloid that is N,N-dimethyltryptamine substituted by a methoxy group at position 5.


DIPHENHYDRAMINE HYDROCHLORIDE

The hydrochloride salt of diphenhydramine.


name: DGKQ_HUMAN Diacylglycerol kinase theta (sprot)

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


coronary microvascular disorder

description: A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.


name: RGS18_HUMAN Regulator of G-protein signaling 18 (sprot)

description: A regulator of G-protein signaling 18 that is encoded in the genome of human.


name: PA2GD_HUMAN Group IID secretory phospholipase A2 (sprot)

description: A group IID secretory phospholipase A2 that is encoded in the genome of human.


23-hydroxyursolic acid

A pentacyclic triterpenoid that is ursolic acid substituted by an additional hydroxy group at position 23. It has been isolated from Lagerstroemia speciosa and Juglans sinensis.


ximelagatran

A member of the class of azetidines that is melagatran in which the carboxylic acid group has been converted into the corresponding ethyl ester and in which the amidine group has been converted to the corresponding hydroxylamine. Tautomeric with the oxime form of ximelagatran.


phosphatidylcholine (18:0/22:3)

A phosphatidylcholine 40:3 in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C22:3 respectively.


Mydriasis

description: Abnormal dilatation of the iris.


name: NGAP_HUMAN Ras GTPase-activating protein nGAP (sprot)

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


name: pneumonia caused by gram negative bacteria


name: CSN3_HUMAN COP9 signalosome complex subunit 3 (sprot)

description: A COP9 signalosome complex subunit 3 that is encoded in the genome of human.


name: KAISO_HUMAN Transcriptional regulator Kaiso (sprot)

description: A transcriptional regulator Kaiso that is encoded in the genome of human.


NHSL1_HUMAN NHS-like protein 1 (sprot)

An NHS-like protein 1 that is encoded in the genome of human.


name: PTPR2_HUMAN Receptor-type tyrosine-protein phosphatase N2 (sprot)

description: A receptor-type tyrosine-protein phosphatase N2 that is encoded in the genome of human.


PARAHYDROXYBENZYL ALCOHOL

A member of the class of  benzyl alcohols that is  benzyl alcohol substituted by a hydroxy group at position 4. It has been isolated from Arcangelisia gusanlung.


xerophthalmia

description: Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.


Zellweger spectrum disorders

description: The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.


name: NBPF1_HUMAN Neuroblastoma breakpoint family member 1 (sprot)

description: A neuroblastoma breakpoint family member 1 that is encoded in the genome of human.


name: ADA2C_HUMAN Alpha-2C adrenergic receptor (sprot)

description: An alpha-2C adrenergic receptor that is encoded in the genome of human.


phosphatidylcholine (P-16:0/18:3)

A phosphatidylcholine P-34:3 in which the 1-alk-1-enyl group contains 16 carbons and no additional double bonds while the 2-acyl group contains 18 carbons and 3 double bonds.


acute hepatitis C virus infection

description: A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.


name: INLR1_HUMAN Interferon lambda receptor 1 (sprot)

description: An interleukin-28 receptor alpha chain that is encoded in the genome of human.


name: IG2AS_HUMAN Putative insulin-like growth factor 2 antisense gene protein (sprot)

description: A putative insulin-like growth factor 2 antisense gene protein that is encoded in the genome of human.


ivosidenib

A tertiary carboxamide resulting from the formal condensation of the carboxy group of (2S)-1-(4-cyanopyridin-2-yl)-5-oxopyrrolidine-2-carboxylic acid with the secondary amino group of (2S)-2-(2-chlorophenyl)-N-(3,3-difluorocyclobutyl)-2-[(5-fluoropyridin-3-yl)amino]acetamide. It is approved by the FDA for the treatment of acute myeloid leukemia (AML) in patients with an isocitrate dehydrogenase-1 (IDH1) mutation.


CCNO_HUMAN Cyclin-O (sprot)

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


name: CES1P_HUMAN Putative inactive carboxylesterase 4 (sprot)

description: A putative inactive carboxylesterase 4 that is encoded in the genome of human.


Reye syndrome

description: An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.


A cholesterol ester obtained by the formal condensation of  cholesterol with all-cis-5,8,11,14,17-icosapentaenoic acid.


estetrol

A 3-hydroxy steroid that is 17beta-estradiol which has been substituted at the 15alpha and 16alpha positions by two additional hydroxy groups. It is a natural estrogen produced exclusively during pregnancy by the fetal liver.


aripiprazole lauroxil

A dodecanoate ester obtained by formal condensation of the carboxy group of dodecanoic acid with the hydroxy group of 7-{4-[4-(2,3-dichlorophenyl)piperazin-1-yl]butoxy}-2-oxo-3,4-dihydroquinolin-1(2H)-yl]methanol. A prodrug for aripiprazole, it is used for treatment of schizophrenia.


Olmsted syndrome

description: A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.


tamoxifen N-oxide

A tertiary amine oxide resulting from the formal oxidation of the amino group of tamoxifen.


FA13A_HUMAN Protein FAM13A (sprot)

A protein FAM13A that is encoded in the genome of human.


name: RAVR1_HUMAN Ribonucleoprotein PTB-binding 1 (sprot)

description: A ribonucleoprotein PTB-binding 1 that is encoded in the genome of human.


atypical choroid plexus papilloma

description: A choroid plexus papilloma characterized by increased mitotic activity.


name: PELP1_HUMAN Proline-, glutamic acid- and leucine-rich protein 1 (sprot)

description: A proline-, glutamic acid- and leucine-rich protein 1 that is encoded in the genome of human.


caffeic acid

The trans-isomer of caffeic acid.


oligoasthenoteratozoospermia

description: A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.


name: TA2R_HUMAN Thromboxane A2 receptor (sprot)

description: A thromboxane A2 receptor that is encoded in the genome of human.


hypopharyngeal carcinoma

description: Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.


pancuronium

A steroid ester in which a 5alpha-androstane skeleton is C-3alpha- and C-17beta-disubstituted with acetoxy groups and 2beta- and 16beta-disubstituted with 1-methylpiperidinium-1-yl groups. It is a non-depolarizing curare-mimetic muscle relaxant.


name: MKRN1_HUMAN E3 ubiquitin-protein ligase makorin-1 (sprot)

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


selisistat

A member of the class of carbazoles that is 2,3,4,9-tetrahydro-1H-carbazole  which is substituted at position 1 by an aminocarbohyl group and at position 6 by a chlorine.


CASP5_HUMAN Caspase-5 (sprot)

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


name: low phospholipid associated cholelithiasis

description: Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.


name: TRI72_HUMAN Tripartite motif-containing protein 72 (sprot)

description: A tripartite motif-containing protein 72 that is encoded in the genome of human.


name: PA2G4_HUMAN Proliferation-associated protein 2G4 (sprot)

description: A proliferation-associated protein 2G4 that is encoded in the genome of human.


Renal amyloidosis

description: A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).


TIAR_HUMAN Nucleolysin TIAR (sprot)

A nucleolysin TIAR that is encoded in the genome of human.


name: E41LB_HUMAN Band 4.1-like protein 4B (sprot)

description: A band 4.1-like protein 4B that is encoded in the genome of human.


phosphatidylethanolamine (17:1/17:1)

A 1,2-diacyl-sn-glycero-3-phosphoethanolamine in which both acyl groups contain 17 carbons and 1 double bond.


anal canal carcinoma

description: A carcinoma that arises from epithelial cells of the anal canal


CP4F3_HUMAN Cytochrome P450 4F3 (sprot)

A cytochrome P450 4F3 that is encoded in the genome of human.


emedastine

1-Methyl-1,4-diazepane in which the hydrogen attached to the nitrogen at position 4 is substituted by a 1-(2-ethoxyethyl)-1H-benzimidazol-2-yl group. A relatively selective histamine H1 antagonist, it is used as the difumatate salt for allergic rhinitis, urticaria, and pruritic skin disorders, and in eyedrops for the symptomatic relief of allergic conjuntivitis.


A bromophenol that is phenol in which the hydrogens at positions 2, 4 and 6 have been replaced by bromines. It is commonly used as a fungicide and in the preparation of flame retardants.


name: NSD3_HUMAN Histone-lysine N-methyltransferase NSD3 (sprot)

description: A histone-lysine N-methyltransferase NSD3 that is encoded in the genome of human.


name: STK16_HUMAN Serine/threonine-protein kinase 16 (sprot)

description: A serine/threonine-protein kinase 16 that is encoded in the genome of human.


bolandiol

A 3beta-hydroxy steroid that is estr-4-ene substituted by a beta-hydroxy group at positions 3 and 17. It is a synthetic anabolic steroid that is used as a dietary supplement by athletes to enhance performance.


name: GCM2_HUMAN Chorion-specific transcription factor GCMb (sprot)

description: A chorion-specific transcription factor GCMb that is encoded in the genome of human.


name: MA2B1_HUMAN Lysosomal alpha-mannosidase (sprot)

description: A lysosomal alpha-mannosidase that is encoded in the genome of human.


name: I12R1_HUMAN Interleukin-12 receptor subunit beta-1 (sprot)

description: An interleukin-12 receptor subunit beta-1 that is encoded in the genome of human.


name: COXM1_HUMAN COX assembly mitochondrial protein homolog (sprot)

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


DEOXYCYTIDINE TRIPHOSPHATE

A 2'-deoxycytidine phosphate having cytosine as the nucleobase.


name: APBA3_HUMAN Amyloid-beta A4 precursor protein-binding family A member 3 (sprot)

description: An amyloid-beta A4 precursor protein-binding family A member 3 that is encoded in the genome of human.


AMPO_HUMAN Aminopeptidase O (sprot)

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


oculogyric crisis

description: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.


name: T2R41_HUMAN Taste receptor type 2 member 41 (sprot)

description: A taste receptor type 2 member 41 that is encoded in the genome of human.


name: PAIP1_HUMAN Polyadenylate-binding protein-interacting protein 1 (sprot)

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


A 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase that is encoded in the genome of human.


beta-thalassemia intermedia

description: Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.


name: CIAO1_HUMAN Probable cytosolic iron-sulfur protein assembly protein CIAO1 (sprot)

description: A protein CIAO1 that is encoded in the genome of human.


autoimmune inner ear disease

description: A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.


4-hydroxyphenylacetic acid

A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group.


name: RNF31_HUMAN E3 ubiquitin-protein ligase RNF31 (sprot)

description: An E3 ubiquitin-protein ligase RNF31 that is encoded in the genome of human.


name: CHST3_HUMAN Carbohydrate sulfotransferase 3 (sprot)

description: A carbohydrate sulfotransferase 3 that is encoded in the genome of human.


name: TUSC1_HUMAN Tumor suppressor candidate gene 1 protein (sprot)

description: A tumor suppressor candidate gene 1 protein that is encoded in the genome of human.


name: acute myeloid leukemia with mutated NPM1

description: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.


name: TACT_HUMAN T-cell surface protein tactile (sprot)

description: A T-cell surface protein tactile that is encoded in the genome of human.


name: HV102_HUMAN Immunoglobulin heavy variable 1-2 (sprot)

description: A protein that is a translation product of the IGHV1-2 gene in human.


mandelic acid

A 2-hydroxy monocarboxylic acid that is acetic acid in which two of the methyl hydrogens are substituted by phenyl and hydroxyl groups.


name: RPTOR_HUMAN Regulatory-associated protein of mTOR (sprot)

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


STS_HUMAN Steryl-sulfatase (sprot)

A steryl-sulfatase that is encoded in the genome of human.


permanent neonatal diabetes mellitus

description: Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.


trimetaphan

A complex heterocyclic sulfonium compound with an imidazolium core, used to treat hypertension.


name: UBE3B_HUMAN Ubiquitin-protein ligase E3B (sprot)

description: A ubiquitin-protein ligase E3B that is encoded in the genome of human.


cyclandelate

The ester obtained by formal condensation of mandelic acid and 3,3,5-tricyclohexanol. It is a direct-acting smooth muscle relaxant used to dilate blood vessels.


Susac syndrome

description: Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.


name: FBX17_HUMAN F-box only protein 17 (sprot)

description: An F-box only protein 17 that is encoded in the genome of human.


sternal neoplasm

description: A benign or malignant neoplasm that affects the sternum.


name: ATS15_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 15 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 15 that is encoded in the genome of human.


fusariosis

description: Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.


name: primary mediastinal large B-cell lymphoma

description: A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)


perennial allergic rhinitis

description: Allergic rhinitis caused by indoor allergens and lasting year round.


name: HM20A_HUMAN High mobility group protein 20A (sprot)

description: A high mobility group protein 20A that is encoded in the genome of human.


Delayed speech and language development

description: A degree of language development that is significantly below the norm for a child of a specified age.


name: SAP3_HUMAN Ganglioside GM2 activator (sprot)

description: A ganglioside GM2 activator that is encoded in the genome of human.


nodal marginal zone B-cell lymphoma

description: Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.


name: AGRV1_HUMAN Adhesion G-protein coupled receptor V1 (sprot)

description: An adhesion G-protein coupled receptor V1 that is encoded in the genome of human.


name: MAL_HUMAN Myelin and lymphocyte protein (sprot)

description: A myelin and lymphocyte protein that is encoded in the genome of human.


postinfectious vasculitis

description: Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.


Hypoproteinemia

description: A decreased concentration of protein in the blood.


S-oxy-L-cysteine

A cysteine derivative consiting of L-cysteine carrying an S-oxy-substituent.


name: RLA0_HUMAN Large ribosomal subunit protein uL10 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL10 that is encoded in the genome of human.


foveal hypoplasia

description: Underdevelopment of the fovea centralis.


name: MUCL1_HUMAN Mucin-like protein 1 (sprot)

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


B-cell prolymphocytic leukemia

description: A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.


GPC5_HUMAN Glypican-5 (sprot)

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


name: NKX63_HUMAN Homeobox protein Nkx-6.3 (sprot)

description: A homeobox protein Nkx-6.3 that is encoded in the genome of human.


vagus nerve paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


dihydrodaidzein

A hydroxyisoflavanone that is isoflavanone carrying two hydroxy substituents located at positions 4' and 7.


adenylosuccinate lyase deficiency

description: Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


Calcinosis cutis

description: Deposition of calcium in the skin.


FEV_HUMAN Protein FEV (sprot)

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


name: DIRA1_HUMAN GTP-binding protein Di-Ras1 (sprot)

description: A GTP-binding protein Di-Ras1 that is encoded in the genome of human.


name: MAGA5_HUMAN Putative melanoma-associated antigen 5P (sprot)

description: A putative melanoma-associated antigen 5P that is encoded in the genome of human.


name: VATL_HUMAN V-type proton ATPase 16 kDa proteolipid subunit c (sprot)

description: A V-type proton ATPase 16 kDa proteolipid subunit c that is encoded in the genome of human.


name: CTR9_HUMAN RNA polymerase-associated protein CTR9 homolog (sprot)

description: An RNA polymerase-associated protein CTR9 that is encoded in the genome of human.


name: SPC25_HUMAN Kinetochore protein Spc25 (sprot)

description: A kinetochore protein Spc25 that is encoded in the genome of human.


idiopathic camptocormia

description: Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.


Plummer disease

description: Nodular enlargement of the thyroid gland associated with hyperthyroidism.


name: MPIP2_HUMAN M-phase inducer phosphatase 2 (sprot)

description: An M-phase inducer phosphatase 2 that is encoded in the genome of human.


name: TTI2_HUMAN TELO2-interacting protein 2 (sprot)

description: A TELO2-interacting protein 2 that is encoded in the genome of human.


name: RMI2_HUMAN RecQ-mediated genome instability protein 2 (sprot)

description: A RecQ-mediated genome instability protein 2 that is encoded in the genome of human.


name: RFIP3_HUMAN Rab11 family-interacting protein 3 (sprot)

description: A Rab11 family-interacting protein 3 that is encoded in the genome of human.


name: RRAS2_HUMAN Ras-related protein R-Ras2 (sprot)

description: A Ras-related protein R-Ras2 that is encoded in the genome of human.


triacetic acid

A dioxo monocarboxylic acid comprising hexanoic acid with the two oxo groups placed at the 3- and 5-positions.


name: SIT1_HUMAN Signaling threshold-regulating transmembrane adapter 1 (sprot)

description: A signaling threshold-regulating transmembrane adapter 1 that is encoded in the genome of human.


name: CASS4_HUMAN Cas scaffolding protein family member 4 (sprot)

description: A Cas scaffolding protein family member 4 that is encoded in the genome of human.


BEX4_HUMAN Protein BEX4 (sprot)

A protein BEX4 that is encoded in the genome of human.


SNX8_HUMAN Sorting nexin-8 (sprot)

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


name: COX17_HUMAN Cytochrome c oxidase copper chaperone (sprot)

description: A cytochrome c oxidase copper chaperone that is encoded in the genome of human.


solabegron

A carboxybiphenyl that is [biphenyl]-3-carboxylic acid carrying a (2-{[(2R)-2-(3-chlorophenyl)-2-hydroxyethyl]amino}ethyl)nitrilo group at the 3' position. A selective beta3-adrenergic receptor agonist currently in clinical development for the treatment of overactive bladder and irritable bowel syndrome.


CCNP_HUMAN Cyclin-P (sprot)

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


name: MCTP1_HUMAN Multiple C2 and transmembrane domain-containing protein 1 (sprot)

description: A multiple C2 and transmembrane domain-containing protein 1 that is encoded in the genome of human.


name: MBNL2_HUMAN Muscleblind-like protein 2 (sprot)

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


IPO13_HUMAN Importin-13 (sprot)

An importin-13 that is encoded in the genome of human.


name: AIFM3_HUMAN Apoptosis-inducing factor 3 (sprot)

description: An apoptosis-inducing factor 3 that is encoded in the genome of human.


Hypertyrosinemia

description: An increased concentration of tyrosine in the blood.


name: MPP2_HUMAN MAGUK p55 subfamily member 2 (sprot)

description: A MAGUK p55 subfamily member 2 that is encoded in the genome of human.


name: UBP49_HUMAN Ubiquitin carboxyl-terminal hydrolase 49 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 49 that is encoded in the genome of human.


name: FYB1_HUMAN FYN-binding protein 1 (sprot)

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


name: SKAP1_HUMAN Src kinase-associated phosphoprotein 1 (sprot)

description: A Src kinase-associated phosphoprotein 1 that is encoded in the genome of human.


name: AR6P4_HUMAN ADP-ribosylation factor-like protein 6-interacting protein 4 (sprot)

description: An ADP-ribosylation factor-like protein 6-interacting protein 4 that is encoded in the genome of human.


name: ZBTB2_HUMAN Zinc finger and BTB domain-containing protein 2 (sprot)

description: A zinc finger and BTB domain-containing protein 2 that is encoded in the genome of human.


name: FNIP1_HUMAN Folliculin-interacting protein 1 (sprot)

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


name: UBP32_HUMAN Ubiquitin carboxyl-terminal hydrolase 32 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 32 that is encoded in the genome of human.


GALC_HUMAN Galactocerebrosidase (sprot)

A galactocerebrosidase that is encoded in the genome of human.


Hypovolemic shock

description: A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.


maleimide

A cyclic dicarboximide in which the two carboacyl groups on nitrogen together with the nitogen itself form a 1H-pyrrole-2,5-dione structure.


name: TRIA1_HUMAN TP53-regulated inhibitor of apoptosis 1 (sprot)

description: A TP53-regulated inhibitor of apoptosis 1 that is encoded in the genome of human.


name: CX6A1_HUMAN Cytochrome c oxidase subunit 6A1, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 6A1, mitochondrial that is encoded in the genome of human.


viral conjunctivitis

description: Conjunctivitis resulting from viral infection.


HIV-associated nephropathy

description: Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.


narcissistic personality disorder

description: A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.


Tactile hypersensitivity

description: A decreased tolerance to physical touch.


name: LEU7_HUMAN Leukemia-associated protein 7 (sprot)

description: A leukemia-associated protein 7 that is encoded in the genome of human.


naproxcinod

A carboxylic ester obtained by formal condensation of the carboxy group of naproxen with the hydroxy group of 4-(nitrooxy)butanol. A cyclooxygenase-inhibiting nitric oxide donator that is metabolised to naproxen and a nitric oxide donating moiety, effective in treatment of osteoarthritis.


beta-carotene 15,15'-epoxide

An epoxycarotenoid obtained by epoxidation across the 15,15'-double bond of beta-carotene.


phosphatidylcholine (15:0/20:4)

A phosphatidylcholine 35:4 in which the fatty acyl groups at positions 1 and 2 are specified as C15:0 and C20:4 respectively.


name: C1QT5_HUMAN Complement C1q tumor necrosis factor-related protein 5 (sprot)

description: A complement C1q tumor necrosis factor-related protein 5 that is encoded in the genome of human.


name: MFRP_HUMAN Membrane frizzled-related protein (sprot)

description: A membrane frizzled-related protein that is encoded in the genome of human.


CCNY_HUMAN Cyclin-Y (sprot)

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


necrotizing enterocolitis

description: Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.


METRIBOLONE

A synthetic non-aromatisable androgen and anabolic steroid. It binds strongly to the androgen receptor and has therefore also been used as an affinity label for this receptor in the prostate and in prostatic tumors.


name: LAMA2_HUMAN Laminin subunit alpha-2 (sprot)

description: A laminin subunit alpha-2 that is encoded in the genome of human.


name: PPIH_HUMAN Peptidyl-prolyl cis-trans isomerase H (sprot)

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


name: KI2S4_HUMAN Killer cell immunoglobulin-like receptor 2DS4 (sprot)

description: A killer cell immunoglobulin-like receptor 2DS4 that is encoded in the genome of human.


name: RPB3_HUMAN DNA-directed RNA polymerase II subunit RPB3 (sprot)

description: A DNA-directed RNA polymerase II subunit RPB3 that is encoded in the genome of human.


name: CE290_HUMAN Centrosomal protein of 290 kDa (sprot)

description: A centrosomal protein of 290 kDa that is encoded in the genome of human.


name: ADA15_HUMAN Disintegrin and metalloproteinase domain-containing protein 15 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 15 that is encoded in the genome of human.


name: CXA10_HUMAN Gap junction alpha-10 protein (sprot)

description: A gap junction alpha-10 protein that is encoded in the genome of human.


BENZALDEHYDE

An arenecarbaldehyde that consists of benzene bearing a single formyl substituent; the simplest aromatic aldehyde and parent of the class of benzaldehydes.


name: M3K14_HUMAN Mitogen-activated protein kinase kinase kinase 14 (sprot)

description: A mitogen-activated protein kinase kinase kinase 14 that is encoded in the genome of human.


name: growth delay due to insulin-like growth factor type 1 deficiency

description: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


name: PA2GX_HUMAN Group 10 secretory phospholipase A2 (sprot)

description: A group 10 secretory phospholipase A2 that is encoded in the genome of human.


name: CACO1_HUMAN Calcium-binding and coiled-coil domain-containing protein 1 (sprot)

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


ANO5_HUMAN Anoctamin-5 (sprot)

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


A pentacyclic triterpenoid that is (9beta)-24-methylene-9,19-cyclolanostane which carries a hydroxy group at position 3beta. It is isolated from several plant species including Euphorbia, Epidendrum, Psychotria and Sideritis.


name: MITD1_HUMAN MIT domain-containing protein 1 (sprot)

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


HYOCHOLIC ACID

A trihydroxy-5beta-cholanic acid in which the three hydroxy substituents are located at the 3alpha-, 6alpha- and 7alpha-positions.


brucellosis

description: Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.


name: HSP76_HUMAN Heat shock 70 kDa protein 6 (sprot)

description: A heat shock 70 kDa protein 6 that is encoded in the genome of human.


Warthin tumor

description: An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.


potassium acetate

A potassium salt comprising equal numbers of potassium and acetate ions


name: DEN2B_HUMAN DENN domain-containing protein 2B (sprot)

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


name: DPOD2_HUMAN DNA polymerase delta subunit 2 (sprot)

description: A DNA polymerase delta subunit 2 that is encoded in the genome of human.


name: RLP24_HUMAN Probable ribosome biogenesis protein RLP24 (sprot)

description: A probable ribosome biogenesis protein RLP24 that is encoded in the genome of human.


name: CUED1_HUMAN CUE domain-containing protein 1 (sprot)

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


hyperostosis

description: Excessive thickening of bone.


An amidophosphoribosyltransferase that is encoded in the genome of human.


dioctanoylglycerol

A diglyceride obtained by acylation of any two hydroxy groups of glycerol by octanoic acid. Formula C19H36O5. For the structure shown, either R1 = H and R2 = octanoyl or R1 = octanoyl and R2 = H.


Hemianopia

description: Partial or complete loss of vision in one half of the visual field of one or both eyes.


perflenapent

A fluorocarbon that is pentane in which all of the hydrogens have been replaced by fluorines.


formate

A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects.


name: RPAP2_HUMAN Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 (sprot)

description: A putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 that is encoded in the genome of human.


A C-nucleoside analog that is (2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)tetrahydrofuran-2-carbonitrile substituted by a 4-aminopyrrolo[2,1-f][1,2,4]triazin-7-yl group at position 2. It is the active metabolite of remdesivir and exhibits a broad range of inhibitory activity against various RNA viruses including HCV, parainfluenza and SARS-CoV.


name: TRAK2_HUMAN Trafficking kinesin-binding protein 2 (sprot)

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


name: LAP4B_HUMAN Lysosomal-associated transmembrane protein 4B (sprot)

description: A lysosomal-associated transmembrane protein 4B that is encoded in the genome of human.


optic pathway glioma

description: Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).


ELOC_HUMAN Elongin-C (sprot)

An elongin-C that is encoded in the genome of human.


name: PP4P1_HUMAN Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase (sprot)

description: A type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase that is encoded in the genome of human.


Wolman disease

description: Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.


canker sore

description: A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.


NINL_HUMAN Ninein-like protein (sprot)

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


name: HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger-containing protein 1 (sprot)

description: A RanBP-type and C3HC4-type zinc finger-containing protein 1 that is encoded in the genome of human.


name: PKNX1_HUMAN Homeobox protein PKNOX1 (sprot)

description: A homeobox protein PKNOX1 that is encoded in the genome of human.


name: FANCF_HUMAN Fanconi anemia group F protein (sprot)

description: A Fanconi anemia group F protein that is encoded in the genome of human.


SNX14_HUMAN Sorting nexin-14 (sprot)

A sorting nexin-14 that is encoded in the genome of human.


name: CEMP1_HUMAN Cementoblastoma-derived protein 1 (sprot)

description: A cementoblastoma-derived protein 1 that is encoded in the genome of human.


name: PRPF3_HUMAN U4/U6 small nuclear ribonucleoprotein Prp3 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp3 that is encoded in the genome of human.


hypertension, pregnancy-induced

description: A hypertensive disorder that develops during pregnancy.


name: DNJA2_HUMAN DnaJ homolog subfamily A member 2 (sprot)

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


name: STML2_HUMAN Stomatin-like protein 2, mitochondrial (sprot)

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


name: PKHF1_HUMAN Pleckstrin homology domain-containing family F member 1 (sprot)

description: A pleckstrin homology domain-containing family F member 1 that is encoded in the genome of human.


dihydroartemisinic acid

A monocarboxylic acid that is propanoic acid substituted at position 2 by a (1S,4R,4aS,8aR)-4,7-dimethyl-1,2,3,4,4a,5,6,8a-octahydronaphthalen-1-yl group. It is a sesquiterpenoid precursor of the antimalarial drug, artemisinin.


diclofenamide

A sulfonamide that is benzene-1,3-disulfonamide in which the hydrogens at positions 4 and 5 are substituted by chlorine. An oral carbonic anhydrase inhibitor, it partially suppresses the secretion (inflow) of aqueous humor in the eye and so reduces intraocular pressure. It is used for the treatment of glaucoma.


phosphatidylcholine (18:1/20:0)

A phosphatidylcholine 38:1 in which the fatty acyl groups at positions 1 and 2 are specified as C18:1 and C20:0 respectively.


2,4-DICHLOROPHENOXYACETIC ACID

A chlorophenoxyacetic acid that is phenoxyacetic acid in which the ring hydrogens at postions 2 and 4 are substituted by chlorines.


name: AN32C_HUMAN Putative uncharacterized protein ANP32CP (sprot)

description: A putative uncharacterized protein ANP32CP that is encoded in the genome of human.


amblyopia

description: Decreased vision that results from abnormal visual development.


name: CB39L_HUMAN Calcium-binding protein 39-like (sprot)

description: A calcium-binding protein 39-like that is encoded in the genome of human.


HUMMR_HUMAN Protein MGARP (sprot)

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


aliphatic alcohol

An  alcohol derived from an aliphatic compound.


name: PPIL1_HUMAN Peptidyl-prolyl cis-trans isomerase-like 1 (sprot)

description: A peptidyl-prolyl cis-trans isomerase-like 1 that is encoded in the genome of human.


cavernous sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)


childhood pilocytic astrocytoma

description: A pilocytic astrocytoma that occurs during childhood.


STRC_HUMAN Stereocilin (sprot)

A stereocilin that is encoded in the genome of human.


name: ANS1B_HUMAN Ankyrin repeat and sterile alpha motif domain-containing protein 1B (sprot)

description: An ankyrin repeat and sterile alpha motif domain-containing protein 1B that is encoded in the genome of human.


name: VAMP7_HUMAN Vesicle-associated membrane protein 7 (sprot)

description: A vesicle-associated membrane protein 7 that is encoded in the genome of human.


name: VPP1_HUMAN V-type proton ATPase 116 kDa subunit a 1 (sprot)

description: A V-type proton ATPase 116 kDa subunit a 1 that is encoded in the genome of human.


PROPIONAMIDE

A  monocarboxylic acid amide obtained by the formal condensation of propionic acid with ammonia.


name: P4K2B_HUMAN Phosphatidylinositol 4-kinase type 2-beta (sprot)

description: A phosphatidylinositol 4-kinase type 2-beta that is encoded in the genome of human.


name: SGMR2_HUMAN Sigma intracellular receptor 2 (sprot)

description: A sigma intracellular receptor 2 that is encoded in the genome of human.


KCY_HUMAN UMP-CMP kinase (sprot)

A UMP-CMP kinase that is encoded in the genome of human.


name: NDK3_HUMAN Nucleoside diphosphate kinase 3 (sprot)

description: A nucleoside diphosphate kinase 3 that is encoded in the genome of human.


INHA_HUMAN Inhibin alpha chain (sprot)

An inhibin alpha chain that is encoded in the genome of human.


von Hippel-Lindau disease

description: A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.


ochronosis disorder

description: A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.


angiomyxoma

description: A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.


DOBUTAMINE HYDROCHLORIDE

The hydrochloride salt of dobutamine.  A beta1-adrenergic receptor agonist that has cardiac stimulant action without evoking vasoconstriction or tachycardia, it is used to increase the contractility of the heart in the management of acute heart failure.


SSX1_HUMAN Protein SSX1 (sprot)

A protein SSX1 that is encoded in the genome of human.


name: ALKB3_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 (sprot)

description: An alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 that is encoded in the genome of human.


name: RED2_HUMAN Double-stranded RNA-specific editase B2 (sprot)

description: A double-stranded RNA-specific editase B2 that is encoded in the genome of human.


ERC2_HUMAN ERC protein 2 (sprot)

An ERC protein 2 that is encoded in the genome of human.


PIR_HUMAN Pirin (sprot)

A pirin that is encoded in the genome of human.


name: EAF2_HUMAN ELL-associated factor 2 (sprot)

description: An ELL-associated factor 2 that is encoded in the genome of human.


Congenital ichthyosiform erythroderma

description: An ichthyosiform abnormality of the skin with congenital onset.


name: IRAK2_HUMAN Interleukin-1 receptor-associated kinase-like 2 (sprot)

description: An interleukin-1 receptor-associated kinase-like 2 that is encoded in the genome of human.


cortistatin A

A member of the class of cortistatins that is substituted by hydroxy groups at positions 1 and 2, a dimethylamino group at the 3alpha position and an isoquinolin-7-yl group at the 17 position, with double bonds at the 9-11 and 10-19 positions (the 1R,2R,17beta enantiomer).


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

description: A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


phosphatidylethanolamine (18:1/16:0)

A 1,2-diacyl-sn-glycero-3-phosphoethanolamine in which the acyl group at C-1 contains 18 carbons and 1 double bond while that at C-2 contains 16 carbons and no double bonds.


name: SYTM_HUMAN Threonine--tRNA ligase, mitochondrial (sprot)

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


PRG3_HUMAN Proteoglycan 3 (sprot)

A proteoglycan 3 that is encoded in the genome of human.


name: CIB3_HUMAN Calcium and integrin-binding family member 3 (sprot)

description: A calcium and integrin-binding family member 3 that is encoded in the genome of human.


name: SRCN1_HUMAN SRC kinase signaling inhibitor 1 (sprot)

description: A SRC kinase signaling inhibitor 1 that is encoded in the genome of human.


PLXA4_HUMAN Plexin-A4 (sprot)

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


name: DISP1_HUMAN Protein dispatched homolog 1 (sprot)

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


name: DPOE1_HUMAN DNA polymerase epsilon catalytic subunit A (sprot)

description: A DNA polymerase epsilon catalytic subunit A that is encoded in the genome of human.


LIGNOCERIC ACID

A C24 straight-chain saturated fatty acid.


pneumonia caused by chlamydia

description: An pneumonia caused by infection with Chlamydia.


name: CLC9A_HUMAN C-type lectin domain family 9 member A (sprot)

description: A C-type lectin domain family 9 member A that is encoded in the genome of human.


name: KCNV1_HUMAN Potassium voltage-gated channel subfamily V member 1 (sprot)

description: A voltage-gated potassium channel KCNV1 that is encoded in the genome of human.


name: RL24_HUMAN Large ribosomal subunit protein eL24 (sprot)

description: A large ribosomal subunit protein eL24 that is encoded in the genome of human.


name: MARK1_HUMAN Serine/threonine-protein kinase MARK1 (sprot)

description: A serine/threonine-protein kinase MARK1 that is encoded in the genome of human.


LIPA4_HUMAN Liprin-alpha-4 (sprot)

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


name: relapsed/refractory diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.


autoinflammatory syndrome

description: A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.


name: UNC5A_HUMAN Netrin receptor UNC5A (sprot)

description: A netrin receptor UNC5A that is encoded in the genome of human.


Pulmonary vasculitis

description: Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.


name: CGNL1_HUMAN Cingulin-like protein 1 (sprot)

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


acebutolol

An ether that is the 2-acetyl-4-(butanoylamino)phenyl ether of the primary hydroxy group of 3-(propan-2-ylamino)propane-1,2-diol.


name: AR2BP_HUMAN ADP-ribosylation factor-like protein 2-binding protein (sprot)

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


chronic eosinophilic leukemia

description: A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.  Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia.  In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred.  (WHO, 2001)


name: NSL1_HUMAN Kinetochore-associated protein NSL1 homolog (sprot)

description: A kinetochore-associated protein NSL1 that is encoded in the genome of human.


cardiac rhabdomyoma

description: A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.


name: CD3Z_HUMAN T-cell surface glycoprotein CD3 zeta chain (sprot)

description: A T-cell surface glycoprotein CD3 that is encoded in the genome of human.


name: RRN3_HUMAN RNA polymerase I-specific transcription initiation factor RRN3 (sprot)

description: An RNA polymerase I-specific transcription initiation factor RRN3 that is encoded in the genome of human.


name: AN32A_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member A (sprot)

description: An acidic leucine-rich nuclear phosphoprotein 32 family member A that is encoded in the genome of human.


name: H2AY_HUMAN Core histone macro-H2A.1 (sprot)

description: A core histone macro-H2A.1 that is encoded in the genome of human.


mitochondrial DNA depletion syndrome 4a

description: Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


name: RAB14_HUMAN Ras-related protein Rab-14 (sprot)

description: A Ras-related protein Rab-14 that is encoded in the genome of human.


name: TLE6_HUMAN Transducin-like enhancer protein 6 (sprot)

description: A transducin-like enhancer protein 6 that is encoded in the genome of human.


name: UBP33_HUMAN Ubiquitin carboxyl-terminal hydrolase 33 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 33 that is encoded in the genome of human.


NENF_HUMAN Neudesin (sprot)

A neudesin that is encoded in the genome of human.


benign essential blepharospasm

description: Involuntary twitching of the eyelid.


azetidine-2-carboxylic acid

An  azetidinecarboxylic acid that is azetidine substituted by a carboxy group at position 2. It is a plant non-protein amino acid.


nitrophenol

Any member of the class of  phenols or substituted phenols carrying  at least 1 nitro group.


tubercidin

An N-glycosylpyrrolopyrimidine that is adenosine in which the in the 5-membered ring that is not attached to the ribose moiety is replaced by a carbon. Tubercidin is produced in the culture broth of Streptomyces tubericidus.


name: MIXL1_HUMAN Homeobox protein MIXL1 (sprot)

description: A homeobox protein MIXL1 that is encoded in the genome of human.


name: TBA8_HUMAN Tubulin alpha-8 chain (sprot)

description: A tubulin alpha-8 chain that is encoded in the genome of human.


SEPT4_HUMAN Septin-4 (sprot)

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


familial adenomatous polyposis 2

description: An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.


name: ITIH1_HUMAN Inter-alpha-trypsin inhibitor heavy chain H1 (sprot)

description: An inter-alpha-trypsin inhibitor heavy chain H1 that is encoded in the genome of human.


name: 2A5B_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform (sprot)

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


name: MCUB_HUMAN Calcium uniporter regulatory subunit MCUb, mitochondrial (sprot)

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


diquafosol

A pyrimidine ribonucleoside 5'-tetraphosphate compound having 5'-uridinyl residues at the P(1)- and P(4)-positions.


mesna

An organosulfonic acid consisting of sulfonic acid having a 2-mercaptoethyl group attached to sulfur.


name: TTLL1_HUMAN Polyglutamylase complex subunit TTLL1 (sprot)

description: A polyglutamylase complex subunit TTLL1 that is encoded in the genome of human.


TETRAZOLIUM RED

An organic chloride salt having 2,3,5-triphenyltetrazolium as the counterion.


SLN12_HUMAN Ribonuclease SLFN12 (sprot)

A ribonuclease SLFN12 that is encoded in the genome of human.


autoimmune vasculitis

description: An autoimmune form of vasculitis.


octadec-9-enoic acid

An octadecenoic acid with a double bond at C-9.


name: LY96_HUMAN Lymphocyte antigen 96 (sprot)

description: A lymphocyte antigen 96 that is encoded in the genome of human.


name: NKD1_HUMAN Protein naked cuticle homolog 1 (sprot)

description: A protein naked cuticle homolog 1 that is encoded in the genome of human.


name: OPA3_HUMAN Optic atrophy 3 protein (sprot)

description: An optic atrophy 3 protein that is encoded in the genome of human.


name: RHG15_HUMAN Rho GTPase-activating protein 15 (sprot)

description: A Rho GTPase-activating protein 15 that is encoded in the genome of human.


name: PABP4_HUMAN Polyadenylate-binding protein 4 (sprot)

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


name: NCOA5_HUMAN Nuclear receptor coactivator 5 (sprot)

description: A nuclear receptor coactivator 5 that is encoded in the genome of human.


calcitroic acid

A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group and the C-23/C-27 unit is replaced by a carboxy group.


meningococcal meningitis

description: An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.


name: RND2_HUMAN Rho-related GTP-binding protein RhoN (sprot)

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


name: PD2R2_HUMAN Prostaglandin D2 receptor 2 (sprot)

description: A prostaglandin D2 receptor DP2 that is encoded in the genome of human.


name: P4HTM_HUMAN Transmembrane prolyl 4-hydroxylase (sprot)

description: A transmembrane prolyl 4-hydroxylase that is encoded in the genome of human.


name: PLPP2_HUMAN Phospholipid phosphatase 2 (sprot)

description: A phospholipid phosphatase 2 that is encoded in the genome of human.


name: CRLF1_HUMAN Cytokine receptor-like factor 1 (sprot)

description: A cytokine receptor-like factor 1 that is encoded in the genome of human.


name: LRP10_HUMAN Low-density lipoprotein receptor-related protein 10 (sprot)

description: A low-density lipoprotein receptor-related protein 10 that is encoded in the genome of human.


name: LTBP4_HUMAN Latent-transforming growth factor beta-binding protein 4 (sprot)

description: A latent-transforming growth factor beta-binding protein 4 that is encoded in the genome of human.


name: ASTL_HUMAN Astacin-like metalloendopeptidase (sprot)

description: An astacin-like metalloendopeptidase that is encoded in the genome of human.


VINCRISTINE SULFATE

An organic sulfate salt containing equimolar amounts of vincristine(2+) and sulfate. Used for the treatment of a variety of cancers.


vestibular disorder

description: Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.


name: MTFP1_HUMAN Mitochondrial fission process protein 1 (sprot)

description: A mitochondrial 18 kDa protein that is encoded in the genome of human.


name: PAX9_HUMAN Paired box protein Pax-9 (sprot)

description: A paired box protein Pax-9 that is encoded in the genome of human.


trichotillomania

description: A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.


name: MEIG1_HUMAN Meiosis expressed gene 1 protein homolog (sprot)

description: A meiosis expressed gene 1 protein that is encoded in the genome of human.


metaphyseal chondrodysplasia

description: An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


name: STEA3_HUMAN Metalloreductase STEAP3 (sprot)

description: A metalloreductase STEAP3 that is encoded in the genome of human.


name: PP4R1_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 1 (sprot)

description: A serine/threonine-protein phosphatase 4 regulatory subunit 1 that is encoded in the genome of human.


KLOTB_HUMAN Beta-klotho (sprot)

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


name: CLC5A_HUMAN C-type lectin domain family 5 member A (sprot)

description: A C-type lectin domain family 5 member A that is encoded in the genome of human.


azide

Any nitrogen molecular entity containing the group -N3.


name: NEK10_HUMAN Serine/threonine-protein kinase Nek10 (sprot)

description: A serine/threonine-protein kinase Nek10 that is encoded in the genome of human.


SODIUM SULFIDE

A sulfide salt with formula Na2S. The pentahydrate and  (particularly) the nonahydrate are also known. In gel form, sodium sulfide is used to soften toenails to assist in trimming (and so relive pain) of ingrowing toenails.


name: ANR22_HUMAN Ankyrin repeat domain-containing protein 22 (sprot)

description: An ankyrin repeat domain-containing protein 22 that is encoded in the genome of human.


SNPH_HUMAN Syntaphilin (sprot)

A syntaphilin that is encoded in the genome of human.


name: FCAR_HUMAN Immunoglobulin alpha Fc receptor (sprot)

description: An immunoglobulin alpha Fc receptor that is encoded in the genome of human.


PALMITOYL DOPAMINE

A fatty amide resulting from the formal condensation of the carboxy group of hexadecanoic acid with the amino group of dopamine. It is present as an endogenous compound in the mammalian brain.


name: DHRS6_HUMAN Dehydrogenase/reductase SDR family member 6 (sprot)

description: A dehydrogenase/reductase SDR family member 6 that is encoded in the genome of human.


human prion disease

description: Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).


malignant renal pelvis neoplasm

description: A primary or metastatic malignant neoplasm that affects the renal pelvis.


name: hypertrichotic osteochondrodysplasia Cantu type

description: Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.


Loss of consciousness

description: Loss of alertness and orientation to place and time.


(Sp)-cAMPS

A nucleoside 3',5'-cyclic phosphorothioate having adenine as the nucleobase (the Sp-stereoisomer).


acute stress disorder

description: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.


name: PLPL8_HUMAN Calcium-independent phospholipase A2-gamma (sprot)

description: A calcium-independent phospholipase A2-gamma that is encoded in the genome of human.


blepharoconjunctivitis

description: Inflammation of both the eyelids and the conjunctiva.


name: ERP44_HUMAN Endoplasmic reticulum resident protein 44 (sprot)

description: An endoplasmic reticulum resident protein 44 that is encoded in the genome of human.


name: CDA7L_HUMAN Cell division cycle-associated 7-like protein (sprot)

description: A cell division cycle-associated 7-like protein that is encoded in the genome of human.


platensimycin

A  monocarboxylic acid amide  obtained by the formal condensation of the amino group of 3-amino-2,4-dihydroxybenzoic acid with the carboxy group of the oxatetracyclic   cage component. It is an antibiotic isolated from Streptomyces platensis and exhibits inhibitory activity against  fatty acid synthase.


kidney cortex necrosis

description: Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.


D-tryptophan

The D-enantiomer of tryptophan.


name: MTMR6_HUMAN Myotubularin-related protein 6 (sprot)

description: A myotubularin-related protein 6 that is encoded in the genome of human.


Chiari malformation type II

description: Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.


name: MGAT2_HUMAN Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (sprot)

description: An alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase that is encoded in the genome of human.


name: KCJ15_HUMAN ATP-sensitive inward rectifier potassium channel 15 (sprot)

description: An ATP-sensitive inward rectifier potassium channel 15 that is encoded in the genome of human.


name: DDI1_HUMAN Protein DDI1 homolog 1 (sprot)

description: A protein DDI1 homolog 1 that is encoded in the genome of human.


thymic basaloid carcinoma

description: A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.


name: CAMLG_HUMAN Guided entry of tail-anchored proteins factor CAMLG (sprot)

description: A guided entry of tail-anchored proteins factor CAMLG that is encoded in the genome of human.


name: TCAL7_HUMAN Transcription elongation factor A protein-like 7 (sprot)

description: A transcription elongation factor A protein-like 7 that is encoded in the genome of human.


TSH3_HUMAN Teashirt homolog 3 (sprot)

A teashirt homolog 3 that is encoded in the genome of human.


SGO2_HUMAN Shugoshin 2 (sprot)

A shugoshin 2 that is encoded in the genome of human.


vaginal cancer

description: A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.


name: MLF2_HUMAN Myeloid leukemia factor 2 (sprot)

description: A myeloid leukemia factor 2 that is encoded in the genome of human.


name: GLIS3_HUMAN Zinc finger protein GLIS3 (sprot)

description: A zinc finger protein GLIS3 that is encoded in the genome of human.


TALDO_HUMAN Transaldolase (sprot)

A transaldolase that is encoded in the genome of human.


name: SERA_HUMAN D-3-phosphoglycerate dehydrogenase (sprot)

description: A D-3-phosphoglycerate dehydrogenase that is encoded in the genome of human.


name: AMPE_HUMAN Glutamyl aminopeptidase (sprot)

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


name: TIAM2_HUMAN Rho guanine nucleotide exchange factor TIAM2 (sprot)

description: A Rho guanine nucleotide exchange factor TIAM2 that is encoded in the genome of human.


name: TBRG1_HUMAN Transforming growth factor beta regulator 1 (sprot)

description: A transforming growth factor beta regulator 1 that is encoded in the genome of human.


malignant choroid melanoma

description: A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.


inclusion body myositis

description: A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.


A  3-nitrotyrosine comprising L-tyrosine having a nitro group at the 3-position on the phenyl ring.


ceftezole

A first-generation cephalosporin antibiotic having (1,3,4-thiadiazol-2-ylsulfanyl)methyl and [2-(1H-tetrazol-1-yl)acetamido side groups located at positions 3 and 7 respectively.


microcytic anemia

description: Anemia in which the red blood cell volume is decreased.


Ophthalmic artery occlusion

description: A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.


phosphatidylethanolamine (16:0/18:2)

1,2-diacyl-sn-glycero-3-phosphoethanolamine in which the acyl group at C-1 contains 16 carbons and no double bonds while that at C-2 contains 18 carbons and 2 double bonds.


prolidase deficiency

description: An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.


Allan-Herndon-Dudley syndrome

description: A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.


breast ductal adenocarcinoma

description: A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.


name: PLPL7_HUMAN Patatin-like phospholipase domain-containing protein 7 (sprot)

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


M-PHENOXYBENZOIC ACID FOR CIS-ISOMER

A phenoxybenzoic acid in which the phenoxy group is meta to the carboxy group. It is a metabolite of pyrethroid insecticides.


gadobutrol

A gadolinium coordination entity consisting of a central Gd(III) atom bound to a macrocyclic tetraamine framework. It is used as a paramagnetic contrast agent in magnetic resonance imaging (MRI).


perfluoroundecanoic acid

A fluoroalkanoic acid that is perfluorinated undecanoic acid.


eosinophilic cryptitis

description: Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.


name: RFIP1_HUMAN Rab11 family-interacting protein 1 (sprot)

description: A Rab11 family-interacting protein 1 that is encoded in the genome of human.


glutaryl-CoA

An omega-carboxyacyl-CoA that results from the formal condensation of the thiol group of coenzyme A with one of the carboxy groups of glutaric acid.


name: CBPC2_HUMAN Cytosolic carboxypeptidase 2 (sprot)

description: A cytosolic carboxypeptidase 2 that is encoded in the genome of human.


name: MMP20_HUMAN Matrix metalloproteinase-20 (sprot)

description: A matrix metalloproteinase-20 that is encoded in the genome of human.


CRK_HUMAN Adapter molecule crk (sprot)

An adapter molecule crk that is encoded in the genome of human.


benserazide

A carbohydrazide that results from the formal condensation of the carboxy group of DL-serine with the primary amino group of 4-(hydrazinylmethyl)benzene-1,2,3-triol. An aromatic-L-amino-acid decarboxylase inhibitor (DOPA decarboxylase inhibitor) that does not enter the central nervous system, it is used as its hydrochloride salt as an adjunct to levodopa in the treatment of parkinsonism. By preventing the conversion of levodopa to dopamine in the periphery, it causes an increase in the amount of levodopa reaching the central nervous system and so reduces the required dose. Benserazide has no antiparkinson actions when given alone.


Hyperchloremic acidosis

description: Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.


name: ADA22_HUMAN Disintegrin and metalloproteinase domain-containing protein 22 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 22 that is encoded in the genome of human.


urinary system neoplasm

description: A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003


name: DDX23_HUMAN Probable ATP-dependent RNA helicase DDX23 (sprot)

description: A probable ATP-dependent RNA helicase DDX23 that is encoded in the genome of human.


abediterol

A quinolone that is 8-hydroxyquinolin-2(1H)-one which carries a 2-{[6-(2,2-difluoro-2-phenylethoxy)hexyl]amino}-1-hydroxyethyl group at position 5. It is a long acting beta2-adrenoceptor agonist currently in development for the treatment of chronic obstructive pulmonary disease (COPD) and asthma.


name: CXD2_HUMAN Gap junction delta-2 protein (sprot)

description: A gap junction delta-2 protein that is encoded in the genome of human.


name: COX18_HUMAN Cytochrome c oxidase assembly protein COX18, mitochondrial (sprot)

description: A cytochrome c oxidase assembly protein COX18, mitochondrial that is encoded in the genome of human.


LIPA2_HUMAN Liprin-alpha-2 (sprot)

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


name: PGBM_HUMAN Basement membrane-specific heparan sulfate proteoglycan core protein (sprot)

description: A basement membrane-specific heparan sulfate proteoglycan core protein that is encoded in the genome of human.


name: VATC2_HUMAN V-type proton ATPase subunit C 2 (sprot)

description: A V-type proton ATPase subunit C 2 that is encoded in the genome of human.


retinopathy of prematurity

description: A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.


2-aminoisobutyric acid

A rare, non-protein amino acid and end-product of pyrimidine metabolism, excreted in urine and found in some antibiotics of fungal origin. With the exception of a few bacteria, it is non-metabolisable, and therefore used in bioassays.


name: UBP3_HUMAN Ubiquitin carboxyl-terminal hydrolase 3 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 3 that is encoded in the genome of human.


septooptic dysplasia

description: Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.


name: IGSF1_HUMAN Immunoglobulin superfamily member 1 (sprot)

description: An immunoglobulin superfamily member 1 that is encoded in the genome of human.


name: AMGO3_HUMAN Amphoterin-induced protein 3 (sprot)

description: An amphoterin-induced protein 3 that is encoded in the genome of human.


name: PSD2_HUMAN PH and SEC7 domain-containing protein 2 (sprot)

description: A PH and SEC7 domain-containing protein 2 that is encoded in the genome of human.


description: X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.


name: INSM2_HUMAN Insulinoma-associated protein 2 (sprot)

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


alfentanil

A member of the class of piperidines that is piperidine having a 2-(4-ethyl-5-oxo-4,5-dihydro-1H-tetrazol-1-yl)ethyl group at the 1-position as well as N-phenylpropanamido- and methoxymethyl groups at the 4-position.


Blau syndrome

description: Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.


N-acetylcarnosine

A dipeptide that is the N-acetyl derivative of carnosine.


name: S31A7_HUMAN Spermatogenesis-associated protein 31A7 (sprot)

description: A spermatogenesis-associated protein 31A7 that is encoded in the genome of human.


BUFALIN

A 14beta-hydroxy steroid that is bufan-20,22-dienolide having hydroxy substituents at the 5beta- and 14beta-positions. It has been isolated from the skin of the toad Bufo bufo.


name: KCNH1_HUMAN Potassium voltage-gated channel subfamily H member 1 (sprot)

description: A voltage-gated potassium channel KCNH1 that is encoded in the genome of human.


A C5-acylcarnitine having 2-methylbutyryl as the acyl substituent.


Progressive distal muscle weakness

description: Progressively reduced strength of the distal musculature.


name: DUS8_HUMAN Dual specificity protein phosphatase 8 (sprot)

description: A dual specificity protein phosphatase 8 that is encoded in the genome of human.


name: T2R31_HUMAN Taste receptor type 2 member 31 (sprot)

description: A taste receptor type 2 member 31 that is encoded in the genome of human.


name: PQBP1_HUMAN Polyglutamine-binding protein 1 (sprot)

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


depersonalization disorder

description: A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.


name: ZNT8_HUMAN Proton-coupled zinc antiporter SLC30A8 (sprot)

description: A proton-coupled zinc antiporter SLC30A8 that is encoded in the genome of human.


phosphatidylcholine (18:3/22:6)

A phosphatidylcholine 40:9 in which the fatty acyl groups at positions 1 and 2 are specified as C18:3 and C22:6 respectively.


indolent B-cell non-Hodgkin lymphoma

description: A B-cell non-Hodgkin lymphoma with an indolent clinical course. Representative examples include grade 1 and grade 2 follicular lymphoma, marginal zone lymphoma, and lymphoplasmacytic lymphoma.


REL2_HUMAN Prorelaxin H2 (sprot)

A prorelaxin H2 that is encoded in the genome of human.


name: CLM7_HUMAN CMRF35-like molecule 7 (sprot)

description: A CMRF35-like molecule 7 that is encoded in the genome of human.


Coenzyme Q1

A compound composed of the standard 2,3-dimethoxy-5-methylbenzoquinone nucleus common to ubiquinones; and a side chain of a single isoprenoid unit.


name: FEZF1_HUMAN Fez family zinc finger protein 1 (sprot)

description: A fez family zinc finger protein 1 that is encoded in the genome of human.


name: CLM8_HUMAN CMRF35-like molecule 8 (sprot)

description: A CMRF35-like molecule 8 that is encoded in the genome of human.


SOFALCONE

A member of the class of chalcones that is benzene in which the hydrogens at positions 1,2 and 5 are replaced by carboxymethoxy, (1E)-1-{4-[(3-methylbut-2-en-1-yl)oxy]phenyl}-3-oxoprop-1-en-3-yl, and (3-methylbut-2-en-1-yl)oxy groups, respectively. It is a gastrointestinal drug currently used for treatment of gastritis and gastric ulcers in Japan and South Korea.


name: MALD1_HUMAN MARVEL domain-containing protein 1 (sprot)

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


name: LEMD2_HUMAN LEM domain-containing protein 2 (sprot)

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


name: MALD3_HUMAN MARVEL domain-containing protein 3 (sprot)

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


name: NHEJ1_HUMAN Non-homologous end-joining factor 1 (sprot)

description: A non-homologous end-joining factor 1 that is encoded in the genome of human.


neurolymphomatosis

description: A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.


Perifolliculitis

description: Inflammation surrounding hair follicles.


name: CANB1_HUMAN Calcineurin subunit B type 1 (sprot)

description: A calcineurin subunit B type 1 that is encoded in the genome of human.


name: CBX7_HUMAN Chromobox protein homolog 7 (sprot)

description: A chromobox protein homolog 7 that is encoded in the genome of human.


fibromatosis

description: A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.


name: VN1R1_HUMAN Vomeronasal type-1 receptor 1 (sprot)

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


PLXB1_HUMAN Plexin-B1 (sprot)

A plexin-B1 that is encoded in the genome of human.


phosphatidylethanolamine (P-18:0/20:1)

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


name: BPIB4_HUMAN BPI fold-containing family B member 4 (sprot)

description: A BPI fold-containing family B member 4 that is encoded in the genome of human.


An ultra-long-chain primary fatty alcohol that is octacosane in which a hydrogen attached to one of the terminal carbons is replaced by a hydroxy group.


Bruton-type agammaglobulinemia

description: X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.


name: PAHX_HUMAN Phytanoyl-CoA dioxygenase, peroxisomal (sprot)

description: A phytanoyl-CoA dioxygenase, peroxisomal that is encoded in the genome of human.


name: DHB7_HUMAN 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 (sprot)

description: A 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 that is encoded in the genome of human.


parainfluenza infectious disease

description: A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.


name: S30BP_HUMAN SAP30-binding protein (sprot)

description: A SAP30-binding protein that is encoded in the genome of human.


name: CISD1_HUMAN CDGSH iron-sulfur domain-containing protein 1 (sprot)

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


name: RUFY4_HUMAN RUN and FYVE domain-containing protein 4 (sprot)

description: A RUN and FYVE domain-containing protein 4 that is encoded in the genome of human.


name: NRIP3_HUMAN Nuclear receptor-interacting protein 3 (sprot)

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


name: RSLBB_HUMAN Ras-like protein family member 11B (sprot)

description: A Ras-like protein family member 11B that is encoded in the genome of human.


cannabichromenic acid

A chromenol that is 2H-chromene substituted by methyl, 2-methylpent-2-en-5-yl, hydroxy, carboxy and pentyl groups at positions 2,2,5,6 and 7, respectively.


name: GPR12_HUMAN G-protein coupled receptor 12 (sprot)

description: A G-protein coupled receptor 12 that is encoded in the genome of human.


name: TM199_HUMAN Transmembrane protein 199 (sprot)

description: A transmembrane protein 199 that is encoded in the genome of human.


name: VA0D1_HUMAN V-type proton ATPase subunit d 1 (sprot)

description: A V-type proton ATPase subunit d 1 that is encoded in the genome of human.


name: SERB_HUMAN Phosphoserine phosphatase (sprot)

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


malakoplakia

description: Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.


ACIFLUORFEN

A member of the class of benzoic acids that is 2-nitrobenzoic acid in which the hydrogen at position 5 is replaced by a 2-chloro-4-(trifluoromethyl)phenoxy group. It is a herbicide used for the post-emergence control of a variety of annual broadleaf weeds.


name: ICMT_HUMAN Protein-S-isoprenylcysteine O-methyltransferase (sprot)

description: A protein-S-isoprenylcysteine O-methyltransferase that is encoded in the genome of human.


CAMPHENE

A monoterpene with a bicyclic skeleton that is bicyclo[2.2.1]heptane substituted by geminal methyl groups at position 2 and a methylidene group at position 3. It is a widespread natural product found in many essential oils.


name: GCNT3_HUMAN Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 (sprot)

description: A beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 that is encoded in the genome of human.


GAMMA-TOCOTRIENOL

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 7 and 8 and a farnesyl chain at position 2. A vitamin E family member that has potent anti-cancer properties against a wide-range of cancers.


NADK_HUMAN NAD kinase (sprot)

An NAD kinase that is encoded in the genome of human.


name: ERF3B_HUMAN Eukaryotic peptide chain release factor GTP-binding subunit ERF3B (sprot)

description: A eukaryotic peptide chain release factor GTP-binding subunit ERF3B that is encoded in the genome of human.


FCRLB_HUMAN Fc receptor-like B (sprot)

An Fc receptor-like B that is encoded in the genome of human.


name: TRI68_HUMAN E3 ubiquitin-protein ligase TRIM68 (sprot)

description: An E3 ubiquitin-protein ligase TRIM68 that is encoded in the genome of human.


infantile diarrhea

description: Diarrhea occurring in infants from newborn to 24-months old.


name: SMRC1_HUMAN SWI/SNF complex subunit SMARCC1 (sprot)

description: A SWI/SNF complex subunit SMARCC1 that is encoded in the genome of human.


name: GRM8_HUMAN Metabotropic glutamate receptor 8 (sprot)

description: A metabotropic glutamate receptor 8 that is encoded in the genome of human.


H14_HUMAN Histone H1.4 (sprot)

A histone H1.4 that is encoded in the genome of human.


name: DHB8_HUMAN (3R)-3-hydroxyacyl-CoA dehydrogenase (sprot)

description: A (3R)-3-hydroxyacyl-CoA dehydrogenase that is encoded in the genome of human.


ureteritis

description: An acute or chronic inflammatory process affecting the ureter.


Charcot-Marie-Tooth disease type 1A

description: Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.


crospovidone

A vinyl polymer composed of repeating -CH2-CR- units where R is a 2-oxopyrrolidin-1-yl group.


Legionnaires' disease

description: A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.


Atrial cardiomyopathy

description: Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.


Mallory-Weiss syndrome

description: A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.


palmitoleate

A hexadec-9-enoate that is the conjugate base of palmitoleic acid; major species at pH 7.3.


name: CK5P1_HUMAN Mitochondrial tRNA methylthiotransferase CDK5RAP1 (sprot)

description: A mitochondrial tRNA methylthiotransferase CDK5RAP1 that is encoded in the genome of human.


name: FPPS_HUMAN Farnesyl pyrophosphate synthase (sprot)

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


name: BTNL2_HUMAN Butyrophilin-like protein 2 (sprot)

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


pinellic acid

A trihydroxyoctadecenoic acid with hydroxy groups at positions C-9, -12, and 13, and an E (cis) double bond at position 10.


A L-histidine derivative that is L-histidine in which a hydrogen of the primary amino group is substituted by a (1S)-1-carboxy-3-methylbutyl group and the ring NH group is substituted by a 3,5-dichlorobenzyl group. It is a potent and selective human angiotensin-converting enzyme 2 (ACE2) inhibitor (IC50 = 0.44 nM) which was in clinical development for the treatment of ulcerative colitis.


name: COA1_HUMAN Cytochrome c oxidase assembly factor 1 homolog (sprot)

description: A cytochrome oxidase assembly protein 1 homolog that is encoded in the genome of human.


name: UBX11_HUMAN UBX domain-containing protein 11 (sprot)

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


disruptive behavior disorder

description: A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.


tetramic acid

A gamma-lactam that is 1,3-dihydro-2H-pyrrol-2-one in which the hydrogen at position 4 has been replaced by a hydroxy group. Despite its simple structure, it was not synthesised until 1972; earlier attempts were later shown to have resulted only in the formation of the isomer 5-imino-4,5-dihydrofuran-3-ol.


name: GTPB4_HUMAN GTP-binding protein 4 (sprot)

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


Euthyroid hyperthyroxinemia

description: Increased levels of thyroxine without evidence of clinical thyroid disease.


name: PDE6D_HUMAN Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta (sprot)

description: A retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta that is encoded in the genome of human.


name: SUN2_HUMAN SUN domain-containing protein 2 (sprot)

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


name: MAF_HUMAN Transcription factor Maf (sprot)

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


alpha-L-fucose

An L-fucopyranose having alpha-configuration at the anomeric centre.


sporadic Creutzfeldt-Jakob disease

description: Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).


alpha-galactosylceramide

A galactosylceramide in which the galactosyl residue has alpha anomeric conofiguration.


pilomyxoid astrocytoma

description: An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.


name: ABD12_HUMAN Lysophosphatidylserine lipase ABHD12 (sprot)

description: A lysophosphatidylserine lipase ABHD12 that is encoded in the genome of human.


name: STK31_HUMAN Serine/threonine-protein kinase 31 (sprot)

description: A serine/threonine-protein kinase 31 that is encoded in the genome of human.


name: MS4A3_HUMAN Membrane-spanning 4-domains subfamily A member 3 (sprot)

description: A membrane-spanning 4-domains subfamily A member 3 that is encoded in the genome of human.


radiation pneumonitis

description: Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.


N-cyclohexyl-2-aminoethanesulfonic acid

An alkanesulfonic acid that is cyclohexanamine in which one of the amino hydrogens is substituted by a 2-sulfoethyl group. It is used as a buffer (pH range of 8.6-10.0) for studying pH-dependent processes in enzymology.


binge eating disorder

description: Recurrent episodes of over-eating.


name: HOGA1_HUMAN 4-hydroxy-2-oxoglutarate aldolase, mitochondrial (sprot)

description: A 4-hydroxy-2-oxoglutarate aldolase, mitochondrial that is encoded in the genome of human.


name: P5CS_HUMAN Delta-1-pyrroline-5-carboxylate synthase (sprot)

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


name: CCZ1_HUMAN Vacuolar fusion protein CCZ1 homolog (sprot)

description: A vacuolar fusion protein CCZ1 homolog that is encoded in the genome of human.


name: GGYF1_HUMAN GRB10-interacting GYF protein 1 (sprot)

description: A GRB10-interacting GYF protein 1 that is encoded in the genome of human.


name: SI1L2_HUMAN Signal-induced proliferation-associated 1-like protein 2 (sprot)

description: A signal-induced proliferation-associated 1-like protein 2 that is encoded in the genome of human.


name: KLHL3_HUMAN Kelch-like protein 3 (sprot)

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


maternal phenylketonuria

description: Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.


SKIL_HUMAN Ski-like protein (sprot)

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


name: LAR4B_HUMAN La-related protein 4B (sprot)

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


name: RAB5B_HUMAN Ras-related protein Rab-5B (sprot)

description: A Ras-related protein Rab-5B that is encoded in the genome of human.


propionate

The conjugate base of propionic acid; a key precursor in lipid biosynthesis.


name: PCDBE_HUMAN Protocadherin beta-14 (sprot)

description: A protocadherin beta-14 that is encoded in the genome of human.


name: HRH3_HUMAN Histamine H3 receptor (sprot)

description: A histamine H3 receptor that is encoded in the genome of human.


sodium aurothiosulfate

An inorganic salt of sodium, the anion of which is the aurothiosulfate(3-) linear coordination complex.


epithelial neoplasm

description: A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.


name: COG3_HUMAN Conserved oligomeric Golgi complex subunit 3 (sprot)

description: A conserved oligomeric Golgi complex subunit 3 that is encoded in the genome of human.


name: CSPG5_HUMAN Chondroitin sulfate proteoglycan 5 (sprot)

description: A chondroitin sulfate proteoglycan 5 that is encoded in the genome of human.


BRK1_HUMAN Protein BRICK1 (sprot)

A protein BRICK1 that is encoded in the genome of human.


intermediate coronary syndrome

description: Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.


hypertrophic lichen planus

description: A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.


name: AGRL1_HUMAN Adhesion G protein-coupled receptor L1 (sprot)

description: An adhesion G protein-coupled receptor L1 that is encoded in the genome of human.


name: C1TM_HUMAN Monofunctional C1-tetrahydrofolate synthase, mitochondrial (sprot)

description: A monofunctional C1-tetrahydrofolate synthase, mitochondrial that is encoded in the genome of human.


name: TRI54_HUMAN Tripartite motif-containing protein 54 (sprot)

description: A tripartite motif-containing protein 54 that is encoded in the genome of human.


name: CHM4C_HUMAN Charged multivesicular body protein 4c (sprot)

description: A charged multivesicular body protein 4c that is encoded in the genome of human.


factor VII deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.