rectal neoplasm

description: A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


TENN_HUMAN Tenascin-N (sprot)

A tenascin-N that is encoded in the genome of human.


name: TNNI2_HUMAN Troponin I, fast skeletal muscle (sprot)

description: A troponin I, fast skeletal muscle that is encoded in the genome of human.


name: GLRA3_HUMAN Glycine receptor subunit alpha-3 (sprot)

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


name: HNRH3_HUMAN Heterogeneous nuclear ribonucleoprotein H3 (sprot)

description: A heterogeneous nuclear ribonucleoprotein H3 that is encoded in the genome of human.


name: LN28B_HUMAN Protein lin-28 homolog B (sprot)

description: A protein lin-28 homolog B that is encoded in the genome of human.


phosphatidylethanolamine (16:0/20:1)

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 20 carbons and 1 double bond.


name: RASL1_HUMAN RasGAP-activating-like protein 1 (sprot)

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


URIDINE TRIACETATE

An acetate ester that is uracil in which the three hydroxy hydrogens are replaced by acetate group. A prodrug for uridine, it is used for the treatment of hereditary orotic aciduria  and for management of fluorouracil toxicity.


phosphatidylethanolamine (18:1/19:1)

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 19 carbons and 1 double bond.


name: NOSIP_HUMAN Nitric oxide synthase-interacting protein (sprot)

description: A nitric oxide synthase-interacting protein that is encoded in the genome of human.


name: CO4A3_HUMAN Collagen alpha-3(IV) chain (sprot)

description: A collagen alpha-3(IV) chain that is encoded in the genome of human.


photoallergic dermatitis

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

description: A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.


creatine transporter deficiency

description: X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.


Parosmia

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

description: Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.


name: RBM6_HUMAN RNA-binding protein 6 (sprot)

description: An RNA-binding protein 6 that is encoded in the genome of human.


myoclonus-dystonia syndrome

description: Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.


name: TRI65_HUMAN E3 ubiquitin-protein ligase TRIM65 (sprot)

description: An E3 ubiquitin-protein ligase TRIM65 that is encoded in the genome of human.


5,8,11-eicosatrienoic acid

An icosatrienoic acid with three bonds at positions 5, 8 and 11.


name: GORS1_HUMAN Golgi reassembly-stacking protein 1 (sprot)

description: A Golgi reassembly-stacking protein 1 that is encoded in the genome of human.


name: OBSL1_HUMAN Obscurin-like protein 1 (sprot)

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


A dicarboxylic acid dianion that is the conjugate base of glutamate(1-).


inborn carbohydrate metabolic disorder

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


ovarian clear cell cancer

description: An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.


name: KCTD1_HUMAN BTB/POZ domain-containing protein KCTD1 (sprot)

description: A BTB/POZ domain-containing protein KCTD1 that is encoded in the genome of human.


name: NEU2_HUMAN Vasopressin-neurophysin 2-copeptin (sprot)

description: A vasopressin-neurophysin 2-copeptin that is encoded in the genome of human.


name: TXD12_HUMAN Thioredoxin domain-containing protein 12 (sprot)

description: A thioredoxin domain-containing protein 12 that is encoded in the genome of human.


name: RGS14_HUMAN Regulator of G-protein signaling 14 (sprot)

description: A regulator of G-protein signaling 14 that is encoded in the genome of human.


name: epidermolysis bullosa simplex superficialis

description: Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.


name: VAPA_HUMAN Vesicle-associated membrane protein-associated protein A (sprot)

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


fascioliasis

description: A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.


typhoidal tularemia

description: A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.


name: RASL3_HUMAN RAS protein activator like-3 (sprot)

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


name: PTN7_HUMAN Tyrosine-protein phosphatase non-receptor type 7 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 7 that is encoded in the genome of human.


HYPOTHEMYCIN

A macrolide that is isolated from the cultured broth of Hypomyces subiculosus and shows antifungal activity and inhibits the growth of some human cancer cells.


name: solid pseudopapillary neoplasm of the pancreas

description: A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.


name: DNA-directed RNA polymerase II subunit GRINL1A isoform 6 (human)

description: A DNA-directed RNA polymerase II subunit GRINL1A isoform 6 that is encoded in the genome of human.


STX10_HUMAN Syntaxin-10 (sprot)

A syntaxin-10 that is encoded in the genome of human.


STX7_HUMAN Syntaxin-7 (sprot)

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


doxapram

A member of the class of pyrrolidin-2-ones that is N-ethylpyrrolidin-2-one in which both of the hydrogens at the 3 position (adjacent to the carbonyl group) are substituted by phenyl groups, and one of the hydrogens at the 4 position is substituted by a 2-(morpholin-4-yl)ethyl group. A central and respiratory stimulant with a brief duration of action, it is used (generally as the hydrochloride or the hydrochloride hydrate) as a temporary treatment of acute respiratory failure, particularly when superimposed on chronic obstructive pulmonary disease, and of postoperative respiratory depression. It has also been used for treatment of postoperative shivering.


name: INT1_HUMAN Integrator complex subunit 1 (sprot)

description: An integrator complex subunit 1 that is encoded in the genome of human.


name: GPR63_HUMAN Probable G-protein coupled receptor 63 (sprot)

description: A probable G-protein coupled receptor 63 that is encoded in the genome of human.


sulfamethoxypyridazine

A sulfonamide consisting of pyridazine having a methoxy substituent at the 6-position and a 4-aminobenzenesulfonamido group at the 3-position.


F201A_HUMAN Protein FAM201A (sprot)

A protein FAM201A that is encoded in the genome of human.


cinnamyl alcohol

A primary alcohol comprising an allyl core with a hydroxy substituent at the 1-position and a phenyl substituent at the 3-position (geometry of the C=C bond unspecified).


name: CL12A_HUMAN C-type lectin domain family 12 member A (sprot)

description: A C-type lectin domain family 12 member A that is encoded in the genome of human.


dicyclomine

The ester resulting from the formal condensation of 1-cyclohexylcyclohexanecarboxylic acid with 2-(diethylamino)ethanol. An anticholinergic, it is used as the hydrochloride to treat or prevent spasm in the muscles of the gastrointestinal tract, particularly that associated with irritable bowel syndrome.


cerebral folate deficiency

description: Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.


CAD16_HUMAN Cadherin-16 (sprot)

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


name: COMD4_HUMAN COMM domain-containing protein 4 (sprot)

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


NPHP4_HUMAN Nephrocystin-4 (sprot)

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


distearoyl phosphatidylglycerol

A phosphatidylglycerol in which the phosphatidyl acyl groups are both stearoyl.


name: SYJ2B_HUMAN Synaptojanin-2-binding protein (sprot)

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


name: TPPC5_HUMAN Trafficking protein particle complex subunit 5 (sprot)

description: A trafficking protein particle complex subunit 5 that is encoded in the genome of human.


name: FMNL3_HUMAN Formin-like protein 3 (sprot)

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


PLATANIC ACID

A pentacyclic triterpenoid that is 30-norlupan-28-oic acid substituted by a 3beta-hydroxy and an oxo group at position 20. It is isolated from the leaves of Syzygium claviflorum and exhibits anti-HIV activity.


name: ESRP2_HUMAN Epithelial splicing regulatory protein 2 (sprot)

description: An epithelial splicing regulatory protein 2 that is encoded in the genome of human.


name: PP14B_HUMAN Protein phosphatase 1 regulatory subunit 14B (sprot)

description: A protein phosphatase 1 regulatory subunit 14B that is encoded in the genome of human.


name: CIA30_HUMAN Complex I intermediate-associated protein 30, mitochondrial (sprot)

description: A complex I intermediate-associated protein 30, mitochondrial that is encoded in the genome of human.


name: MCAT_HUMAN Mitochondrial carnitine/acylcarnitine carrier protein (sprot)

description: A mitochondrial carnitine/acylcarnitine carrier protein that is encoded in the genome of human.


3,5-DIIODOTHYROPROPIONIC ACID

A monocarboxylic acid that is (4-hydroxy-3,5-diiodophenyl)propanoic acid in which the phenolic hydroxy group has been replaced by a 4-hydroxyphenyl group. An ionotropic analogue of L-thyroxine.


PILOCARPINE HYDROCHLORIDE

The hydrochloride salt of (+)-pilocarpine,  a medication used to treat increased pressure inside the eye and dry mouth.


anaplastic oligodendroglioma

description: A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).


name: SNAPN_HUMAN SNARE-associated protein Snapin (sprot)

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


name: HOOK1_HUMAN Protein Hook homolog 1 (sprot)

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


name: ZFAN3_HUMAN AN1-type zinc finger protein 3 (sprot)

description: An AN1-type zinc finger protein 3 that is encoded in the genome of human.


name: RHOG_HUMAN Rho-related GTP-binding protein RhoG (sprot)

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


name: PSMD3_HUMAN 26S proteasome non-ATPase regulatory subunit 3 (sprot)

description: A 26S proteasome non-ATPase regulatory subunit 3 that is encoded in the genome of human.


fenoprofen

A monocarboxylic acid that is propanoic acid in which one of the hydrogens at position 2 is substituted by a 3-phenoxyphenyl group. A non-steroidal anti-inflammatory drug, the dihydrate form of the calcium salt is used for the management of mild to moderate pain and for the relief of pain and inflammation associated with  disorders such as arthritis. It is pharmacologically similar to aspirin, but causes less gastrointestinal bleeding.


name: NAA15_HUMAN N-alpha-acetyltransferase 15, NatA auxiliary subunit (sprot)

description: An N-alpha-acetyltransferase 15, NatA auxiliary subunit that is encoded in the genome of human.


name: BICL1_HUMAN BICD family-like cargo adapter 1 (sprot)

description: A BICD family-like cargo adapter 1 that is encoded in the genome of human.


Gaucher disease type I

description: Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.


name: RMD3_HUMAN Regulator of microtubule dynamics protein 3 (sprot)

description: A regulator of microtubule dynamics protein 3 that is encoded in the genome of human.


alpha-gal syndrome

description: An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).


name: CALL5_HUMAN Calmodulin-like protein 5 (sprot)

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


name: GRM6_HUMAN Metabotropic glutamate receptor 6 (sprot)

description: A metabotropic glutamate receptor 6 that is encoded in the genome of human.


name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance

description: A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)


PREDNISOLONE SODIUM PHOSPHATE

An organic sodium salt of prednisolone phosphate. It is an ophthalmology drug used for the treatment of short-term inflammatory eye conditions and helps relieve inflammation, redness and irritation of the eyes.


name: SPA24_HUMAN Spermatogenesis-associated protein 24 (sprot)

description: A spermatogenesis-associated protein 24 that is encoded in the genome of human.


name: DIC_HUMAN Mitochondrial dicarboxylate carrier (sprot)

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


isolated glycerol kinase deficiency

description: Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).


name: N4BP1_HUMAN NEDD4-binding protein 1 (sprot)

description: A NEDD4-binding protein 1 that is encoded in the genome of human.


acute frontal sinusitis

description: Acute form of frontal sinusitis.


Langerhans cell sarcoma

description: A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)


name: ALX3_HUMAN Homeobox protein aristaless-like 3 (sprot)

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


name: RN123_HUMAN E3 ubiquitin-protein ligase RNF123 (sprot)

description: An E3 ubiquitin-protein ligase RNF123 that is encoded in the genome of human.


name: TMM54_HUMAN Transmembrane protein 54 (sprot)

description: A transmembrane protein 54 that is encoded in the genome of human.


name: SC22A_HUMAN Vesicle-trafficking protein SEC22a (sprot)

description: A vesicle-trafficking protein SEC22a that is encoded in the genome of human.


SODIUM IODIDE

A metal iodide salt with a Na(+) counterion.


name: SPNS1_HUMAN Protein spinster homolog 1 (sprot)

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


name: TTC1_HUMAN Tetratricopeptide repeat protein 1 (sprot)

description: A tetratricopeptide repeat protein 1 that is encoded in the genome of human.


name: DND1_HUMAN Dead end protein homolog 1 (sprot)

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


name: VPS25_HUMAN Vacuolar protein-sorting-associated protein 25 (sprot)

description: A vacuolar protein-sorting-associated protein 25 that is encoded in the genome of human.


name: TBC20_HUMAN TBC1 domain family member 20 (sprot)

description: A TBC1 domain family member 20 that is encoded in the genome of human.


name: JAML_HUMAN Junctional adhesion molecule-like (sprot)

description: A junctional adhesion molecule-like that is encoded in the genome of human.


spastic cerebral palsy

description: A form of cerebral palsy wherein spasticity is the exclusive impairment present.


name: CTSL2_HUMAN CTD small phosphatase-like protein 2 (sprot)

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


name: IKKE_HUMAN Inhibitor of nuclear factor kappa-B kinase subunit epsilon (sprot)

description: An inhibitor of nuclear factor kappa-B kinase subunit epsilon that is encoded in the genome of human.


PFD3_HUMAN Prefoldin subunit 3 (sprot)

A prefoldin subunit 3 that is encoded in the genome of human.


nasopharyngitis

description: An inflammatory process that affects the nasopharynx.


name: MEPE_HUMAN Matrix extracellular phosphoglycoprotein (sprot)

description: A matrix extracellular phosphoglycoprotein that is encoded in the genome of human.


name: AKP13_HUMAN A-kinase anchor protein 13 (sprot)

description: An A-kinase anchor protein 13 that is encoded in the genome of human.


name: LRRC2_HUMAN Leucine-rich repeat-containing protein 2 (sprot)

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


name: ISK6_HUMAN Serine protease inhibitor Kazal-type 6 (sprot)

description: A serine protease inhibitor Kazal-type 6 that is encoded in the genome of human.


name: KLF16_HUMAN Krueppel-like factor 16 (sprot)

description: A krueppel-like factor 16 that is encoded in the genome of human.


dihydroergocryptine

alpha-Ergocryptine in which a single bond replaces the double bond between positions 9 and 10.


RIBAVIRIN MONOPHOSPHATE

A 1-ribosyltriazole that is ribavirin in which the hydroxy group at the 5'-position is replaced by a phosphonooxy group. It is the active metabolite of the antiviral agent ribavirin.


lormetazepam

A 1,4-benzodiazepinone compound having a methyl substituent at the 1-position, a hydroxy substituent at the 3-position, a 2-chlorophenyl group at the 5-position and a chloro substituent at the 7-position.


name: non-acquired combined pituitary hormone deficiency

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.


name: PCY1B_HUMAN Choline-phosphate cytidylyltransferase B (sprot)

description: A choline-phosphate cytidylyltransferase B that is encoded in the genome of human.


name: LRRN4_HUMAN Leucine-rich repeat neuronal protein 4 (sprot)

description: A leucine-rich repeat neuronal protein 4 that is encoded in the genome of human.


chronic prostatitis

description: An infectious or non-infectious chronic inflammatory process that affects the prostate gland.


eye infectious disorder

description: An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.


name: LG3BP_HUMAN Galectin-3-binding protein (sprot)

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


NICOTIFLOROSIDE

A kaempferol O-glucoside that is  kaempferol attached to a rutinosyl [6-deoxy-alpha-L-mannosyl-(1->6)-beta-D-glucosyl] residue at position 3 via a glycosidic linkage. It has been isolated from the leaves of Solanum campaniforme.


F170A_HUMAN Protein FAM170A (sprot)

A protein FAM170A that is encoded in the genome of human.


name: NOL11_HUMAN Nucleolar protein 11 (sprot)

description: A nucleolar protein 11 that is encoded in the genome of human.


name: NBEL1_HUMAN Neurobeachin-like protein 1 (sprot)

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


name: OIT3_HUMAN Oncoprotein-induced transcript 3 protein (sprot)

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


name: GALT5_HUMAN Polypeptide N-acetylgalactosaminyltransferase 5 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 5 that is encoded in the genome of human.


name: SMBT1_HUMAN Scm-like with four MBT domains protein 1 (sprot)

description: An Scm-like with four MBT domains protein 1 that is encoded in the genome of human.


phthalylsulfathiazole

A sulfonamide incorporating 2-carboxybenzamido and 1,3-thiazol-2-yl moieties that is a broad-spectrum antibiotic indicated in the treatment of dysentery, colitis, gastroenteritis and intestinal surgery.


name: VLDLR_HUMAN Very low-density lipoprotein receptor (sprot)

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


description: A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)


A 2-hydroxy steroid that is estrone substituted by a hydroxy group at position 2.


central nervous system vasculitis

description: Vasculitis affecting the blood vessels of the brain and/or spinal cord.


name: HNRL2_HUMAN Heterogeneous nuclear ribonucleoprotein U-like protein 2 (sprot)

description: A heterogeneous nuclear ribonucleoprotein U-like protein 2 that is encoded in the genome of human.


name: RHG25_HUMAN Rho GTPase-activating protein 25 (sprot)

description: A Rho GTPase-activating protein 25 that is encoded in the genome of human.


phosphatidylethanolamine (18:1/22:6)

A phosphatidylethanolamine 40:7 in which the acyl group at C-1 contains 18 carbons and 1 double bond while that at C-2 contains 22 carbons and 6 double bonds.


name: GRSF1_HUMAN G-rich sequence factor 1 (sprot)

description: A G-rich sequence factor 1 that is encoded in the genome of human.


name: NRBF2_HUMAN Nuclear receptor-binding factor 2 (sprot)

description: A nuclear receptor-binding factor 2 that is encoded in the genome of human.


name: ADH1G_HUMAN Alcohol dehydrogenase 1C (sprot)

description: An alcohol dehydrogenase 1C that is encoded in the genome of human.


name: IQGA2_HUMAN Ras GTPase-activating-like protein IQGAP2 (sprot)

description: A Ras GTPase-activating-like protein IQGAP2 that is encoded in the genome of human.


NUP42_HUMAN Nucleoporin NUP42 (sprot)

A nucleoporin NUP42 that is encoded in the genome of human.


name: SRP54_HUMAN Signal recognition particle subunit SRP54 (sprot)

description: A signal recognition particle subunit SRP54 that is encoded in the genome of human.


AMANTADINE HYDROCHLORIDE

A hydrochloride obtained by combining amantadine and hydrochloric acid in equimolar amounts.


name: MLIP_HUMAN Muscular LMNA-interacting protein (sprot)

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


LUMIFLAVIN

A compound showing yellow-green fluorescence, formed by a photolysis of riboflavin in alkaline solution.


name: ES8L2_HUMAN Epidermal growth factor receptor kinase substrate 8-like protein 2 (sprot)

description: An epidermal growth factor receptor kinase substrate 8-like protein 2 that is encoded in the genome of human.


name: BI2L2_HUMAN BAR/IMD domain-containing adapter protein 2-like 2 (sprot)

description: A brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 that is encoded in the genome of human.


name: S35G1_HUMAN Solute carrier family 35 member G1 (sprot)

description: A solute carrier family 35 member G1 that is encoded in the genome of human.


Reversible renal failure

description: Acute renal failure with resolution of manifestations.


name: CACB2_HUMAN Voltage-dependent L-type calcium channel subunit beta-2 (sprot)

description: A voltage-dependent L-type calcium channel subunit beta-2 that is encoded in the genome of human.


2-(N-morpholino)ethanesulfonic acid

A Good's buffer substance, pKa = 6.15 at 20 degreeC.


clemizole

A member of the class of  benzimidazoles that is 1H-benzimidazole substituted by a pyrrolidin-1-ylmethyl and a 4-chlorobenzyl groups at positions 2 and 1 respectively.


name: TCAL4_HUMAN Transcription elongation factor A protein-like 4 (sprot)

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


name: MPZL2_HUMAN Myelin protein zero-like protein 2 (sprot)

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


isolated cleft lip

description: Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.


name: PRLD1_HUMAN PRELI domain-containing protein 1, mitochondrial (sprot)

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


name: EID2_HUMAN EP300-interacting inhibitor of differentiation 2 (sprot)

description: An EP300-interacting inhibitor of differentiation 2 that is encoded in the genome of human.


name: TMED7_HUMAN Transmembrane emp24 domain-containing protein 7 (sprot)

description: A transmembrane emp24 domain-containing protein 7 that is encoded in the genome of human.


name: STOX1_HUMAN Storkhead-box protein 1 (sprot)

description: A storkhead-box protein 1 that is encoded in the genome of human.


name: PCX4_HUMAN Pecanex-like protein 4 (sprot)

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


Glomerular proteinuria

description: A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.


name: ZMYM2_HUMAN Zinc finger MYM-type protein 2 (sprot)

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


RIFK_HUMAN Riboflavin kinase (sprot)

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


tyrosinemia

description: An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.


A quaternary ammonium salt derived from hexamethylenetetramine; used as a preservative in many cosmetics and industrial substances. Also acts as a disinfectant and allergenic agent.


corneal ulcer

description: Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber.


name: PDIA5_HUMAN Protein disulfide-isomerase A5 (sprot)

description: A protein disulfide-isomerase A5 that is encoded in the genome of human.


name: KI18A_HUMAN Kinesin-like protein KIF18A (sprot)

description: A kinesin-like protein KIF18A that is encoded in the genome of human.


name: KIFC3_HUMAN Kinesin-like protein KIFC3 (sprot)

description: A kinesin-like protein KIFC3 that is encoded in the genome of human.


netupitant

A monocarboxylic acid amide obtained by formal condensation of the carboxy group of 2-[3,5-bis(trifluoromethyl)phenyl]-2-methylpropanoic acid with the secondary amino group of N-methyl-4-(2-methylphenyl)-6-(4-methylpiperazin-1-yl)pyridin-3-amine; an antiemetic used in combination with palonosetron hydrochloride (under the trade name Akynzeo) to treat nausea and vomiting in patients undergoing cancer chemotherapy.


male reproductive organ cancer

description: A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.


duodenum cancer

description: A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.


anal squamous cell carcinoma

description: A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.


name: ACS2L_HUMAN Acetyl-coenzyme A synthetase 2-like, mitochondrial (sprot)

description: An acetyl-coenzyme A synthetase 2-like, mitochondrial that is encoded in the genome of human.


phenacyl bromide

An alpha-bromoketone that is acetophenone substituted by a bromo group at position 2.


congenital myotonic dystrophy

description: Myotonic dystrophy that is present at birth.


phosphatidylcholine (20:0/20:5)

A phosphatidylcholine 40:5 in which the fatty acyl groups at positions 1 and 2 are specified as C20:0 and C20:5 respectively.


gastric adenoma

description: A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.


name: S38AB_HUMAN Putative sodium-coupled neutral amino acid transporter 11 (sprot)

description: A putative sodium-coupled neutral amino acid transporter 11 that is encoded in the genome of human.


name: IMA8_HUMAN Importin subunit alpha-8 (sprot)

description: An importin subunit alpha-8 that is encoded in the genome of human.


VERBENONE

A 4,6,6-trimethylbicyclo[3.1.1]hept-3-en-2-one in which both chiral centres have R configuration. It is a component of Spanish verbena oil, from Verbena triphylla.


name: PCSK6_HUMAN Proprotein convertase subtilisin/kexin type 6 (sprot)

description: A proprotein convertase subtilisin/kexin type 6 that is encoded in the genome of human.


name: PPIP2_HUMAN Proline-serine-threonine phosphatase-interacting protein 2 (sprot)

description: A proline-serine-threonine phosphatase-interacting protein 2 that is encoded in the genome of human.


breast carcinoma in situ

description: A in situ carcinoma that involves the breast.


name: KDM4D_HUMAN Lysine-specific demethylase 4D (sprot)

description: A lysine-specific demethylase 4D that is encoded in the genome of human.


name: ANKY2_HUMAN Ankyrin repeat and MYND domain-containing protein 2 (sprot)

description: An ankyrin repeat and MYND domain-containing protein 2 that is encoded in the genome of human.


B lymphocytopenia

description: An abnormal decrease from the normal count of B cells.


classic homocystinuria

description: Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


name: KCIP1_HUMAN Kv channel-interacting protein 1 (sprot)

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


XYLAZINE HYDROCHLORIDE

The hydrochloride salt of xylazine. It is used as a sedative, analgesic, and muscle relaxant in veterinary medicine.


name: EGFL6_HUMAN Epidermal growth factor-like protein 6 (sprot)

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


name: MICA2_HUMAN [F-actin]-monooxygenase MICAL2 (sprot)

description: An [F-actin]-monooxygenase MICAL2 that is encoded in the genome of human.


exocrine pancreatic insufficiency

description: Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.


name: MMP16_HUMAN Matrix metalloproteinase-16 (sprot)

description: A matrix metalloproteinase-16 that is encoded in the genome of human.


An organic anion that is the conjugate base of minocycline, obtained by deprotonation of the two enolic hydroxy groups and protonation of the non-aromatic tertiary amino group.


name: CECR2_HUMAN Chromatin remodeling regulator CECR2 (sprot)

description: A chromatin remodeling regulator CECR2 that is encoded in the genome of human.


name: RBM47_HUMAN RNA-binding protein 47 (sprot)

description: An RNA-binding protein 47 that is encoded in the genome of human.


name: NEK1_HUMAN Serine/threonine-protein kinase Nek1 (sprot)

description: A serine/threonine-protein kinase Nek1 that is encoded in the genome of human.


name: PDP2_HUMAN [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial (sprot)

description: A [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial that is encoded in the genome of human.


name: VPS36_HUMAN Vacuolar protein-sorting-associated protein 36 (sprot)

description: A vacuolar protein-sorting-associated protein 36 that is encoded in the genome of human.


name: DAZL_HUMAN Deleted in azoospermia-like (sprot)

description: A deleted in azoospermia-like that is encoded in the genome of human.


name: PUS1_HUMAN Pseudouridylate synthase 1 homolog (sprot)

description: A eukaryotic tRNA pseudouridine synthase A that is encoded in the genome of human.


segmental dystonia

description: A dystonia that affects two or more adjacent parts of the body.


AAR2_HUMAN Protein AAR2 homolog (sprot)

A protein AAR2 homolog that is encoded in the genome of human.


name: VKOR1_HUMAN Vitamin K epoxide reductase complex subunit 1 (sprot)

description: A vitamin K epoxide reductase complex subunit 1 that is encoded in the genome of human.


Keratocystic odontogenic tumor

description: An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.


name: LRRC3_HUMAN Leucine-rich repeat-containing protein 3 (sprot)

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


name: MEGF9_HUMAN Multiple epidermal growth factor-like domains protein 9 (sprot)

description: A multiple epidermal growth factor-like domains protein 9 that is encoded in the genome of human.


POEMS syndrome

description: POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.


amylopectin

A polydisperse highly branched polysaccharide derivative composed of chains of D-glucopyranose residues in alpha(1->4) glycosidic linkage. The chains are joined together by alpha(1->6) glycosidic linkages. A small number of alpha(1->3) glycosidic linkages and some 6-phosphate ester groups also may occur. The branches in amylopectin typically contain 24 to 30 glucose residues.


name: KANL1_HUMAN KAT8 regulatory NSL complex subunit 1 (sprot)

description: A KAT8 regulatory NSL complex subunit 1 that is encoded in the genome of human.


name: VAT1_HUMAN Synaptic vesicle membrane protein VAT-1 homolog (sprot)

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


name: SCLT1_HUMAN Sodium channel and clathrin linker 1 (sprot)

description: A sodium channel and clathrin linker 1 that is encoded in the genome of human.


S-hexylglutathione

An S-substituted glutathione that is glutathione in which the hydrogen of the thiol has been replaced by a hexyl group (PDB entry: 1PN9).


Menkes disease

description: A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.


methylselenol

An organoselenium compound that is a selenium analogue of methanol, comprising a methyl group covalently bound to a selenol group.


Micronodular cirrhosis

description: A type of cirrhosis characterized by the presence of small regenerative nodules.


name: FAHD1_HUMAN Oxaloacetate decarboxylase, mitochondrial (sprot)

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


name: LRCH3_HUMAN DISP complex protein LRCH3 (sprot)

description: A DISP complex protein LRCH3 that is encoded in the genome of human.


name: SOLH1_HUMAN Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 (sprot)

description: A spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 that is encoded in the genome of human.


GOLM2_HUMAN Protein GOLM2 (sprot)

A protein GOLM2 that is encoded in the genome of human.


name: glycogen storage disease due to GLUT2 deficiency

description: Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


Plasmodium vivax malaria

description: Malaria resulting from infection by Plasmodium vivax.


name: S45A3_HUMAN Solute carrier family 45 member 3 (sprot)

description: A solute carrier family 45 member 3 that is encoded in the genome of human.


GEDUNIN

A pentacyclic triterpenoid natural product found  particularly in Azadirachta indica and Cedrela odorata.


name: LY9_HUMAN T-lymphocyte surface antigen Ly-9 (sprot)

description: A T-lymphocyte surface antigen Ly-9 that is encoded in the genome of human.


name: FBRL_HUMAN rRNA 2'-O-methyltransferase fibrillarin (sprot)

description: An rRNA 2'-O-methyltransferase fibrillarin that is encoded in the genome of human.


name: AMELX_HUMAN Amelogenin, X isoform (sprot)

description: An amelogenin, X isoform that is encoded in the genome of human.


name: CLC4G_HUMAN C-type lectin domain family 4 member G (sprot)

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


laryngeal neoplasm

description: A benign or malignant neoplasm involving the larynx.


name: MGAP_HUMAN MAX gene-associated protein (sprot)

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


A monoatomic monocation obtained from sodium.


GNLY_HUMAN Granulysin (sprot)

A granulysin that is encoded in the genome of human.


name: P3C2G_HUMAN Phosphatidylinositol 3-kinase C2 domain-containing subunit gamma (sprot)

description: A phosphatidylinositol 3-kinase C2 domain-containing subunit gamma that is encoded in the genome of human.


aspartylglucosaminuria

description: Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


SYT8_HUMAN Synaptotagmin-8 (sprot)

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


name: ANKR2_HUMAN Ankyrin repeat domain-containing protein 2 (sprot)

description: An ankyrin repeat domain-containing protein 2 that is encoded in the genome of human.


name: BCCIP_HUMAN BRCA2 and CDKN1A-interacting protein (sprot)

description: A BRCA2 and CDKN1A-interacting protein that is encoded in the genome of human.


anaplastic cancer

description: A malignant neoplasm characterized by the presence of poorly differentiated, often large neoplastic cells with bizarre morphologic characteristics, associated with high mitotic activity and necrotic changes.


name: I18RA_HUMAN Interleukin-18 receptor accessory protein (sprot)

description: An interleukin-18 receptor accessory protein that is encoded in the genome of human.


name: LNP_HUMAN Endoplasmic reticulum junction formation protein lunapark (sprot)

description: An endoplasmic reticulum junction formation protein lunapark that is encoded in the genome of human.


name: LUZP2_HUMAN Leucine zipper protein 2 (sprot)

description: A leucine zipper protein 2 that is encoded in the genome of human.


malignant ciliary body melanoma

description: A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.


intracranial arterial disease

description: Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


polyp

description: A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.


name: RPF1_HUMAN Ribosome production factor 1 (sprot)

description: A ribosome production factor 1 that is encoded in the genome of human.


name: PDS5A_HUMAN Sister chromatid cohesion protein PDS5 homolog A (sprot)

description: A sister chromatid cohesion protein PDS5 homolog A that is encoded in the genome of human.


cyclohexanecarboxylic acid

A monocarboxylic acid that consists of cyclohexane substituted by a carboxy group.


name: ARC1B_HUMAN Actin-related protein 2/3 complex subunit 1B (sprot)

description: An actin-related protein 2/3 complex subunit 1B that is encoded in the genome of human.


name: TAFA5_HUMAN Chemokine-like protein TAFA-5 (sprot)

description: A chemokine-like protein TAFA-5 that is encoded in the genome of human.


name: GRK4_HUMAN G protein-coupled receptor kinase 4 (sprot)

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


name: DYLT3_HUMAN Dynein light chain Tctex-type 3 (sprot)

description: A dynein light chain Tctex-type 3 that is encoded in the genome of human.


OXYPEUCEDANIN

A furanocoumarin that is 7H-furo[3,2-g][1]benzopyran-7-one substituted by a [(2S)-3,3-dimethyloxiran-2-yl]methoxy group at position 4.


The parent structure of the family of 1,2-naphthoquinones, in which the oxo groups of the quinone moiety are at positions 1 and 2 of the naphthalene ring. It is a metabolite of naphthalene and is found in diesel exhaust particles.


name: CO9A2_HUMAN Collagen alpha-2(IX) chain (sprot)

description: A collagen alpha-2(IX) chain that is encoded in the genome of human.


name: PP14A_HUMAN Protein phosphatase 1 regulatory subunit 14A (sprot)

description: A protein phosphatase 1 regulatory subunit 14A that is encoded in the genome of human.


name: COX10_HUMAN Protoheme IX farnesyltransferase, mitochondrial (sprot)

description: A protoheme IX farnesyltransferase, mitochondrial that is encoded in the genome of human.


name: INT10_HUMAN Integrator complex subunit 10 (sprot)

description: An integrator complex subunit 10 that is encoded in the genome of human.


flavylium

A member of the class of chromenyliums that is chromenylium with a phenyl substituent at position 2.


phosphatidylcholine (18:2/22:4)

A phosphatidylcholine 40:6 in which the fatty acyl groups at positions 1 and 2 are specified as C18:2 and C22:4 respectively.


name: ZBT12_HUMAN Zinc finger and BTB domain-containing protein 12 (sprot)

description: A zinc finger and BTB domain-containing protein 12 that is encoded in the genome of human.


name: STT3B_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B that is encoded in the genome of human.


name: IFIX_HUMAN Pyrin and HIN domain-containing protein 1 (sprot)

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


name: CAC1F_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1F (sprot)

description: A voltage-dependent L-type calcium channel subunit alpha-1F that is encoded in the genome of human.


A monoatomic trication derived from gallium.


SHPK_HUMAN Sedoheptulokinase (sprot)

A sedoheptulokinase that is encoded in the genome of human.


name: HCAR1_HUMAN Hydroxycarboxylic acid receptor 1 (sprot)

description: A hydroxycarboxylic acid receptor 1 that is encoded in the genome of human.


gastric diffuse large B-cell lymphoma

description: An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.


potassium phosphate, monobasic

A potassium salt in which dihydrogen phosphate(1-) is the counterion.


name: K2C6A_HUMAN Keratin, type II cytoskeletal 6A (sprot)

description: A keratin, type II cytoskeletal 6A that is encoded in the genome of human.


Dry skin

description: Skin characterized by the lack of natural or normal moisture.


name: TEAD3_HUMAN Transcriptional enhancer factor TEF-5 (sprot)

description: A transcriptional enhancer factor TEF-5 that is encoded in the genome of human.


phosphatidylcholine (P-40:7)

A 1-O-(alk-1-enyl)-2-O-acyl-sn-glycero-3-phosphocholine in which the unspecified alk-1-enyl and acyl groups at positions 1 and 2 contain 40 carbon atoms in total with 7 additional double bonds in the acyl moiety.


description: A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.


aquagenic palmoplantar keratoderma

description: Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.


SGCA_HUMAN Alpha-sarcoglycan (sprot)

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


name: GPX6_HUMAN Glutathione peroxidase 6 (sprot)

description: A glutathione peroxidase 6 that is encoded in the genome of human.


sirenomelia

description: Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.


TBB5_HUMAN Tubulin beta chain (sprot)

A tubulin beta chain that is encoded in the genome of human.


rifampicin-resistant tuberculosis

description: A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.


name: 3BHS7_HUMAN 3 beta-hydroxysteroid dehydrogenase type 7 (sprot)

description: A 3 beta-hydroxysteroid dehydrogenase type 7 that is encoded in the genome of human.


acute bronchiolitis

description: Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.


nodular basal cell carcinoma

description: A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.


chondrocalcinosis 2

description: A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).


name: Abnormality of extrapyramidal motor function

description: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).


name: ZFP82_HUMAN Zinc finger protein 82 homolog (sprot)

description: A zinc finger protein 82 that is encoded in the genome of human.


name: MYO1B_HUMAN Unconventional myosin-Ib (sprot)

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


hypochromic microcytic anemia

description: Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).


A D-glucopyranose 1-phosphate in which the anomeric centre has alpha-configuration.


name: MYCT1_HUMAN Myc target protein 1 (sprot)

description: A Myc target protein 1 that is encoded in the genome of human.


name: TVB51_HUMAN T cell receptor beta variable 5-1 (sprot)

description: A protein that is a translation product of the TRBV5-1 gene in human.


Acanthamoeba infectious disease

description: An infectious disease involving the Acanthamoeba.


name: AT5F1_HUMAN ATP synthase F(0) complex subunit B1, mitochondrial (sprot)

description: An ATP synthase F(0) complex subunit B1, mitochondrial that is encoded in the genome of human.


name: TAF6L_HUMAN TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L (sprot)

description: A TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L that is encoded in the genome of human.


quinaprilat

A dicarboxylic acid resulting from the hydrolysis of the ethyl ester group of quinapril to give the corresponding dicarboxylic acid. The active angiotensin-converting enzyme inhibitor (ACE inhibitor) of the prodrug quinapril.


name: OSCAR_HUMAN Osteoclast-associated immunoglobulin-like receptor (sprot)

description: An osteoclast-associated immunoglobulin-like receptor that is encoded in the genome of human.


name: RL13_HUMAN Large ribosomal subunit protein eL13 (sprot)

description: A large ribosomal subunit protein eL13 that is encoded in the genome of human.


metergoline

An ergoline alkaloid that is the N-benzyloxycarbonyl derivative of lysergamine. A 5-HT2 antagonist. Also 5-HT1 antagonist and 5-HT1D ligand. Has moderate affinity for 5-HT6 and high affinity for 5-HT7.


name: ZN185_HUMAN Zinc finger protein 185 (sprot)

description: A zinc finger protein 185 that is encoded in the genome of human.


CLD6_HUMAN Claudin-6 (sprot)

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


name: ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 (sprot)

description: A Rho guanine nucleotide exchange factor 3 that is encoded in the genome of human.


(aminomethyl)phosphonic acid

A member of the class of phosphonic acids that is phosphonic acid substituted by an aminomethyl group. It is a metabolite of the herbicide glyphosate.


name: ARMC1_HUMAN Armadillo repeat-containing protein 1 (sprot)

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


name: INCE_HUMAN Inner centromere protein (sprot)

description: An inner centromere protein that is encoded in the genome of human.


name: ABCAC_HUMAN Glucosylceramide transporter ABCA12 (sprot)

description: A glucosylceramide transporter ABCA12 that is encoded in the genome of human.


BOSCALID

A pyridinecarboxamide obtained by formal condensation of the carboxy group of 2-chloronicotinic acid with the amino group of 4'-chlorobiphenyl-2-amine. A fungicide active against a broad range of fungal pathogens including Botrytis spp., Alternaria spp. and Sclerotinia spp. for use on a wide range of crops including fruit, vegetables and ornamentals.


hypoaldosteronism disease

description: Abnormally low levels of aldosterone in the blood.


alcoholic cardiomyopathy

description: A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.


name: PLCL2_HUMAN Inactive phospholipase C-like protein 2 (sprot)

description: An inactive phospholipase C-like protein 2 that is encoded in the genome of human.


name: U5S1_HUMAN 116 kDa U5 small nuclear ribonucleoprotein component (sprot)

description: A 116 kDa U5 small nuclear ribonucleoprotein component that is encoded in the genome of human.


NGDN_HUMAN Neuroguidin (sprot)

A neuroguidin that is encoded in the genome of human.


idiopathic inflammatory myopathy

description: Idiopathic form of inflammatory myopathy.


lumiracoxib

An amino acid that is phenylacetic acid which is substituted at position 2 by the nitrogen of 2-chloro-6-fluoroaniline and at position 5 by a methyl group. A highly selective cyclooxygenase 2 inhibitor, it was briefly used for the treatment of osteoarthritis, but was withdrawn due to concersns of hepatotoxicity.


name: SENP7_HUMAN Sentrin-specific protease 7 (sprot)

description: A sentrin-specific protease 7 that is encoded in the genome of human.


name: GNA1_HUMAN Glucosamine 6-phosphate N-acetyltransferase (sprot)

description: A glucosamine 6-phosphate N-acetyltransferase that is encoded in the genome of human.


name: LDHB_HUMAN L-lactate dehydrogenase B chain (sprot)

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


phosphatidylethanolamine (18:0/20:4)

A phosphatidylethanolamine 38:4 in which the acyl group at C-1 contains 18 carbons and no double bonds while that at C-2 contains 20 carbons and 4 double bonds.


Hilar lymph node enlargement

description: Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).


Pancreatic steatosis

description: Fat infiltration in the pancreas.


ERLOTINIB HYDROCHLORIDE

The hydrochloride salt of erlotinib.


name: HMGC2_HUMAN 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic (sprot)

description: A 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic that is encoded in the genome of human.


name: GLE1_HUMAN mRNA export factor GLE1 (sprot)

description: An mRNA export factor GLE1 that is encoded in the genome of human.


name: TMPS6_HUMAN Transmembrane protease serine 6 (sprot)

description: A transmembrane protease serine 6 that is encoded in the genome of human.


name: MF14A_HUMAN Hippocampus abundant transcript 1 protein (sprot)

description: A hippocampus abundant transcript 1 protein that is encoded in the genome of human.


Ocular pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.


name: MIC10_HUMAN MICOS complex subunit MIC10 (sprot)

description: A MICOS complex subunit MIC10 that is encoded in the genome of human.


name: SMD3_HUMAN Small nuclear ribonucleoprotein Sm D3 (sprot)

description: A small nuclear ribonucleoprotein Sm D3 that is encoded in the genome of human.


name: DP13B_HUMAN DCC-interacting protein 13-beta (sprot)

description: A DCC-interacting protein 13-beta that is encoded in the genome of human.


POLH_HUMAN DNA polymerase eta (sprot)

A DNA polymerase eta that is encoded in the genome of human.


name: HCLS1_HUMAN Hematopoietic lineage cell-specific protein (sprot)

description: A hematopoietic lineage cell-specific protein that is encoded in the genome of human.


name: CPEB3_HUMAN Cytoplasmic polyadenylation element-binding protein 3 (sprot)

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


name: UBE2S_HUMAN Ubiquitin-conjugating enzyme E2 S (sprot)

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


phosphatidylethanol

A glycerophospholipid that is the monoethyl ester of any phosphatidic acid.


name: PNPT1_HUMAN Polyribonucleotide nucleotidyltransferase 1, mitochondrial (sprot)

description: A polyribonucleotide nucleotidyltransferase 1, mitochondrial that is encoded in the genome of human.


name: MEOX1_HUMAN Homeobox protein MOX-1 (sprot)

description: A homeobox protein MOX-1 that is encoded in the genome of human.


phosphatidylglycerol

A glycerophosphoglycerol that is glycerol in which the hydrogen of one of the primary hydroxy groups has been replaced by a phosphatidyl group.


name: MND1_HUMAN Meiotic nuclear division protein 1 homolog (sprot)

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


MYH3_HUMAN Myosin-3 (sprot)

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


A member of the class of  hydroquinones that is benzene-1,4-diol substituted by tert-butyl groups at position 2 and 5.


inflammatory bowel disease 3

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.


high output heart failure

description: High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.


name: LAGE3_HUMAN EKC/KEOPS complex subunit LAGE3 (sprot)

description: An EKC/KEOPS complex subunit LAGE3 that is encoded in the genome of human.


name: TNR21_HUMAN Tumor necrosis factor receptor superfamily member 21 (sprot)

description: A tumor necrosis factor receptor superfamily member 21 that is encoded in the genome of human.


Reduced sperm motility

description: An abnormal reduction in the mobility of ejaculated sperm.


ATX10_HUMAN Ataxin-10 (sprot)

An ataxin-10 that is encoded in the genome of human.


Developmental cataract

description: A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.


scotoma

description: A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions.


CATE_HUMAN Cathepsin E (sprot)

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


radiation cystitis

description: Inflammation of the bladder due to irradiation.


F220A_HUMAN Protein FAM220A (sprot)

A protein FAM220A that is encoded in the genome of human.


name: IGSF3_HUMAN Immunoglobulin superfamily member 3 (sprot)

description: An immunoglobulin superfamily member 3 that is encoded in the genome of human.


name: CSR2B_HUMAN Cysteine-rich protein 2-binding protein (sprot)

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


name: NMT1_HUMAN Glycylpeptide N-tetradecanoyltransferase 1 (sprot)

description: A glycylpeptide N-tetradecanoyltransferase 1 that is encoded in the genome of human.


name: S2538_HUMAN Mitochondrial glycine transporter (sprot)

description: A mitochondrial glycine transporter that is encoded in the genome of human.


name: KDM1B_HUMAN Lysine-specific histone demethylase 2 (sprot)

description: A lysine-specific histone demethylase 2 that is encoded in the genome of human.


name: UB2R1_HUMAN Ubiquitin-conjugating enzyme E2 R1 (sprot)

description: A ubiquitin-conjugating enzyme E2 R1 that is encoded in the genome of human.


name: NDUB7_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 that is encoded in the genome of human.


name: GBRA3_HUMAN Gamma-aminobutyric acid receptor subunit alpha-3 (sprot)

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


congenital isolated hyperinsulinism

description: Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.


CP4B1_HUMAN Cytochrome P450 4B1 (sprot)

A cytochrome P450 4B1 that is encoded in the genome of human.


name: RPN1_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of human.


nemaline myopathy

description: Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.


name: ATPO_HUMAN ATP synthase subunit O, mitochondrial (sprot)

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


name: MMP23_HUMAN Matrix metalloproteinase-23 (sprot)

description: A matrix metalloproteinase-23 that is encoded in the genome of human.


name: GBG8_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 that is encoded in the genome of human.


Demodex folliculitis

description: A demodicidosis that involves the hair follicle.


name: core binding factor acute myeloid leukemia

description: An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.


name: PSG9_HUMAN Pregnancy-specific beta-1-glycoprotein 9 (sprot)

description: A pregnancy-specific beta-1-glycoprotein 9 that is encoded in the genome of human.


cheilitis

description: An inflammatory process affecting the lip.


name: MTMRC_HUMAN Myotubularin-related protein 12 (sprot)

description: A myotubularin-related protein 12 that is encoded in the genome of human.


central areolar choroidal dystrophy

description: A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.


name: GPSM2_HUMAN G-protein-signaling modulator 2 (sprot)

description: A G-protein-signaling modulator 2 that is encoded in the genome of human.


gastric cardia carcinoma

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


name: autosomal recessive limb-girdle muscular dystrophy type 2B

description: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.


name: PEMT_HUMAN Phosphatidylethanolamine N-methyltransferase (sprot)

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


primary erythermalgia

description: Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.


name: MTRR_HUMAN Methionine synthase reductase (sprot)

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


name: GLT15_HUMAN Polypeptide N-acetylgalactosaminyltransferase 15 (sprot)

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


name: DSCAM_HUMAN Cell adhesion molecule DSCAM (sprot)

description: A cell adhesion molecule DSCAM that is encoded in the genome of human.


intracranial meningioma

description: A meningioma that arises within the cranial cavity.


name: GP151_HUMAN G-protein coupled receptor 151 (sprot)

description: A G-protein coupled receptor 151 that is encoded in the genome of human.


neuronal ceroid lipofuscinosis 3

description: A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


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

A phosphatidylethanolamine P-34:3 in which the 1-alkenyl group contains 16 carbons and no additional double bonds while the acyl group contains 18 carbons and 3 double bonds.


A dichlorophenol that is phenol carrying chloro substituents at positions 2 and 4.


ethyl hydroxybenzoate

An ethyl ester resulting from the formal condensation of the carboxy group of 4-hydroxybenzoic acid with ethanol,


name: BTLA_HUMAN B- and T-lymphocyte attenuator (sprot)

description: A B- and T-lymphocyte attenuator that is encoded in the genome of human.


name: KPB2_HUMAN Phosphorylase b kinase regulatory subunit alpha, liver isoform (sprot)

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


PYRIMIDINE

The parent compound of the pyrimidines; a diazine having the two nitrogens at the 1- and 3-positions.


name: RGS8_HUMAN Regulator of G-protein signaling 8 (sprot)

description: A regulator of G-protein signaling 8 that is encoded in the genome of human.


CERS5_HUMAN Ceramide synthase 5 (sprot)

A ceramide synthase 5 that is encoded in the genome of human.


name: IL31R_HUMAN Interleukin-31 receptor subunit alpha (sprot)

description: An interleukin-31 receptor A that is encoded in the genome of human.


name: CACL1_HUMAN CDK2-associated and cullin domain-containing protein 1 (sprot)

description: A CDK2-associated and cullin domain-containing protein 1 that is encoded in the genome of human.


MP17L_HUMAN Mpv17-like protein (sprot)

An Mpv17-like protein that is encoded in the genome of human.


digestive system carcinoma

description: A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.


PELARGONIDIN

An anthocyanidin cation that is flavylium substituted by a hydroxy groups at positions 3, 5, 7 and 4'.


name: CWC15_HUMAN Spliceosome-associated protein CWC15 homolog (sprot)

description: A protein CWC15 that is encoded in the genome of human.


functioning pituitary gland adenoma

description: A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.


striatonigral degeneration

description: A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.


name: DLG3_HUMAN Disks large homolog 3 (sprot)

description: A disks large homolog 3 that is encoded in the genome of human.


phosphatidylethanolamine (18:1/18:1)

A 2-diacyl-sn-glycero-3-phosphoethanolamine in which both acyl groups at C1 and C2 contain 18 carbons a 1 double bond each (position of the double bond not specified).


paracoccidioidomycosis

description: A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.


name: CANT1_HUMAN Soluble calcium-activated nucleotidase 1 (sprot)

description: A soluble calcium-activated nucleotidase 1 that is encoded in the genome of human.


name: ZNF83_HUMAN Zinc finger protein 83 (sprot)

description: A zinc finger protein 83 that is encoded in the genome of human.


mesoridazine

A phenothiazine substituted at position 2 (para to the S atom) by a methylsulfinyl group, and on the nitrogen by a 2-(1-methylpiperidin-2-yl)ethyl group.


polyarteritis nodosa

description: Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.


silent myocardial infarction

description: A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.


RRP12_HUMAN RRP12-like protein (sprot)

An RRP12-like protein that is encoded in the genome of human.


trolamine

A tertiary amino compound that is ammonia in which each of the hydrogens is substituted by a 2-hydroxyethyl group.


name: APBA1_HUMAN Amyloid-beta A4 precursor protein-binding family A member 1 (sprot)

description: An amyloid-beta A4 precursor protein-binding family A member 1 that is encoded in the genome of human.


name: PCY1A_HUMAN Choline-phosphate cytidylyltransferase A (sprot)

description: A choline-phosphate cytidylyltransferase A that is encoded in the genome of human.


name: NMUR1_HUMAN Neuromedin-U receptor 1 (sprot)

description: A neuromedin-U receptor 1 that is encoded in the genome of human.


albinism

description: A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.


overlap myositis

description: Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.


secondary hypertrophic osteoarthropathy

description: Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)


ocular hypertension

description: Abnormally high intraocular pressure.


name: RS30_HUMAN Ubiquitin-like FUBI-ribosomal protein eS30 fusion protein (sprot)

description: A ubiquitin-like FUBI-ribosomal protein eS30 fusion protein that is encoded in the genome of human.


name: URM1_HUMAN Ubiquitin-related modifier 1 (sprot)

description: A ubiquitin-related modifier 1 that is encoded in the genome of human.


glycodeoxycholic acid

A bile acid glycine conjugate of deoxycholic acid.


DIPHENYLAMINE

An aromatic amine containing two phenyl substituents. It has been used as a fungicide for the treatment of superficial scald in apples and pears, but is no longer approved for this purpose within the European Union.


name: CDK12_HUMAN Cyclin-dependent kinase 12 (sprot)

description: A cyclin-dependent kinase 12 that is encoded in the genome of human.


name: MAGAC_HUMAN Melanoma-associated antigen 12 (sprot)

description: A melanoma-associated antigen 12 that is encoded in the genome of human.


name: CC124_HUMAN Coiled-coil domain-containing protein 124 (sprot)

description: A coiled-coil domain-containing protein 124 that is encoded in the genome of human.


Hyperpyrexia

description: An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).


Eruptive xanthomas

description: Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.


name: ZN654_HUMAN Zinc finger protein 654 (sprot)

description: A zinc finger protein 654 that is encoded in the genome of human.


name: Alzheimer disease without neurofibrillary tangles


name: LMF1_HUMAN Lipase maturation factor 1 (sprot)

description: A lipase maturation factor 1 that is encoded in the genome of human.


phototoxic dermatitis

description: Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.


PIWL4_HUMAN Piwi-like protein 4 (sprot)

A piwi-like protein 4 that is encoded in the genome of human.


cubital tunnel syndrome

description: Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)


name: SLUR2_HUMAN Secreted Ly-6/uPAR domain-containing protein 2 (sprot)

description: A secreted Ly-6/uPAR domain-containing protein 2 that encoded in the genome of human.


name: PRB2_HUMAN Basic salivary proline-rich protein 2 (sprot)

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


RTKN2_HUMAN Rhotekin-2 (sprot)

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


name: MOT3_HUMAN Monocarboxylate transporter 3 (sprot)

description: A monocarboxylate transporter 3 that is encoded in the genome of human.


Marburg hemorrhagic fever

description: Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.


Truncal ataxia

description: Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.


carbetocin

Oxytocin in which the hydrogen on the phenolic hydroxy group is substituted by methyl, the amino group on the cysteine residue is substituted by hydrogen, and the sulfur of the cysteine residue is replaced by a methylene group. A synthetic carba-analogue of oxytocin, it is used to control bleeding after giving birth. Like oxytocin, it causes contraction of the uterus.


NEROL

The (2Z)-stereoisomer of 3,7-dimethylocta-2,6-dien-1-ol. It has been isolated from the essential oils from plants like lemon grass.


name: TVBY1_HUMAN T cell receptor beta variable 25-1 (sprot)

description: A protein that is a translation product of the TRBV25-1 gene in human.


name: TRDV1_HUMAN T cell receptor delta variable 1 (sprot)

description: A protein that is a translation product of the TRDV1 gene in human.


fosinoprilat

A phosphinic acid-containing N-acyl derivative of (4S)-cyclohexyl-L-proline. An inhibitor of angiotensin converting enzyme (ACE), it is used as the phosphinate ester pro-drug fosinopril for treatment of hypertension and chronic heart failure.


name: ADA1A_HUMAN Alpha-1A adrenergic receptor (sprot)

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


enthesopathy

description: A disorder involving the attachment of a tendon or ligament to a bone


dexpanthenol

A monocarboxylic acid amide that is 3,3-dimethylbutanamide substituted by hydroxy groups at positions 2 and 4 and a 3-hydroxypropyl group at the carbomyl nitrogen.


name: KRA42_HUMAN Keratin-associated protein 4-2 (sprot)

description: A keratin-associated protein 4-2 that is encoded in the genome of human.


methapyrilene

A member of the class of ethylenediamine derivatives that is ethylenediamine in which one of the nitrogens is substituted by two methyl groups, and the other nitrogen is substituted by a 2-pyridyl group and a (2-thienyl)methyl group.


vertebrobasilar insufficiency

description: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.


name: BIG3_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (sprot)

description: A brefeldin A-inhibited guanine nucleotide-exchange protein 3 that is encoded in the genome of human.


keto-D-tagatose 6-phosphate

A D-tagatose 6-phosphate that is in the open-chain keto-form.


name: APC16_HUMAN Anaphase-promoting complex subunit 16 (sprot)

description: An anaphase-promoting complex subunit 16 that is encoded in the genome of human.


name: RGS12_HUMAN Regulator of G-protein signaling 12 (sprot)

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


name: CLN5_HUMAN Bis(monoacylglycero)phosphate synthase CLN5 (sprot)

description: A ceroid-lipofuscinosis neuronal protein 5 that is encoded in the genome of human.


GLYCOPYRROLATE

A quaternary ammonium salt composed of 3-{[cyclopentyl(hydroxy)phenylacetyl]oxy}-1,1-dimethylpyrrolidin-1-ium and  bromide ions in a 1:1 ratio.


COPT2_HUMAN Protein SLC31A2 (sprot)

A protein SLC31A2 that is encoded in the genome of human.


mucinous adenocarcinoma

description: An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.


name: ZDHC5_HUMAN Palmitoyltransferase ZDHHC5 (sprot)

description: A palmitoyltransferase ZDHHC5 that is encoded in the genome of human.


name: ZDHC2_HUMAN Palmitoyltransferase ZDHHC2 (sprot)

description: A palmitoyltransferase ZDHHC2 that is encoded in the genome of human.


name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

description: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.


ARX_HUMAN Homeobox protein ARX (sprot)

A homeobox protein ARX that is encoded in the genome of human.


name: PRR34_HUMAN Proline-rich protein 34 (sprot)

description: A protein that is a translation product of the PRR34 gene in human.


name: BCR_HUMAN Breakpoint cluster region protein (sprot)

description: A breakpoint cluster region protein that is encoded in the genome of human.


name: RASF5_HUMAN Ras association domain-containing protein 5 (sprot)

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


name: Febrile seizure (within the age range of 3 months to 6 years)

description: A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.


name: L2GL2_HUMAN LLGL scribble cell polarity complex component 2 (sprot)

description: An LLGL scribble cell polarity complex component 2 that is encoded in the genome of human.


PFD6_HUMAN Prefoldin subunit 6 (sprot)

A prefoldin subunit 6 that is encoded in the genome of human.


name: FEZ2_HUMAN Fasciculation and elongation protein zeta-2 (sprot)

description: A fasciculation and elongation protein zeta-2 that is encoded in the genome of human.


name: TELO2_HUMAN Telomere length regulation protein TEL2 homolog (sprot)

description: A telomere length regulation protein TEL2 that is encoded in the genome of human.


name: KTNB1_HUMAN Katanin p80 WD40 repeat-containing subunit B1 (sprot)

description: A katanin p80 WD40-containing subunit B1 that is encoded in the genome of human.


name: KTNA1_HUMAN Katanin p60 ATPase-containing subunit A1 (sprot)

description: A katanin p60 ATPase-containing subunit A1 that is encoded in the genome of human.


name: alpha thalassemia-X-linked intellectual disability syndrome

description: X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.


name: EMC8_HUMAN ER membrane protein complex subunit 8 (sprot)

description: An ER membrane protein complex subunit 8 that is encoded in the genome of human.


ANAGRELIDE HYDROCHLORIDE

The hydrochloride salt of anagrelide.


name: HEBP1_HUMAN Heme-binding protein 1 (sprot)

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


NEBU_HUMAN Nebulin (sprot)

A nebulin that is encoded in the genome of human.


eltanolone

The 3alpha-stereoisomer of 3-hydroxy-5beta-pregnan-20-one.


non-secretory plasma cell myeloma

description: A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.


A glutathione conjugate in which the thiol hydrogen of glutathione has been replaced by a 2,4-dinitrophenyl group.


name: SCRG1_HUMAN Scrapie-responsive protein 1 (sprot)

description: A scrapie-responsive protein 1 that is encoded in the genome of human.


name: RHG27_HUMAN Rho GTPase-activating protein 27 (sprot)

description: A Rho GTPase-activating protein 27 that is encoded in the genome of human.


name: TS101_HUMAN Tumor susceptibility gene 101 protein (sprot)

description: A tumor susceptibility gene 101 protein that is encoded in the genome of human.


LAD1_HUMAN Ladinin-1 (sprot)

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


cefpiramide

A third-generation cephalosporin antibiotic with [(1-methyl-1H-tetrazol-5-yl)sulfanyl]methyl and (R)-2-{[(4-hydroxy-6-methylpyridin-3-yl)carbonyl]amino}-2-(4-hydroxyphenyl)acetamido groups at positions 3 and 7, respectively, of the cephem skeleton. It has a broad spectrum of antibacterial activity.


Krebs 2 carcinoma

description: Carcinoma having known association to krebs2 gene mutation


name: PACS2_HUMAN Phosphofurin acidic cluster sorting protein 2 (sprot)

description: A phosphofurin acidic cluster sorting protein 2 that is encoded in the genome of human.


name: MRGRD_HUMAN Mas-related G-protein coupled receptor member D (sprot)

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


name: LDB3_HUMAN LIM domain-binding protein 3 (sprot)

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


name: CFA43_HUMAN Cilia- and flagella-associated protein 43 (sprot)

description: A cilia- and flagella-associated protein 43 that is encoded in the genome of human.


name: CFA44_HUMAN Cilia- and flagella-associated protein 44 (sprot)

description: A cilia- and flagella-associated protein 44 that is encoded in the genome of human.


name: LRAT_HUMAN Lecithin retinol acyltransferase (sprot)

description: A lecithin retinol acyltransferase that is encoded in the genome of human.


gallate

A trihydroxybenzoate that is the conjugate base of gallic acid.


name: ZIC5_HUMAN Zinc finger protein ZIC 5 (sprot)

description: A zinc finger protein ZIC 5 that is encoded in the genome of human.


name: FOG1_HUMAN Zinc finger protein ZFPM1 (sprot)

description: A zinc finger protein ZFPM1 that is encoded in the genome of human.


name: DLGP5_HUMAN Disks large-associated protein 5 (sprot)

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


name: pulmonary large cell neuroendocrine carcinoma

description: A large cell neuroendocrine carcinoma that involves the lung(s).


name: FCERA_HUMAN High affinity immunoglobulin epsilon receptor subunit alpha (sprot)

description: A high affinity immunoglobulin epsilon receptor subunit alpha that is encoded in the genome of human.


name: PP1RA_HUMAN Serine/threonine-protein phosphatase 1 regulatory subunit 10 (sprot)

description: A serine/threonine-protein phosphatase 1 regulatory subunit 10 that is encoded in the genome of human.


coccidioidomycosis

description: A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.


name: M3K12_HUMAN Mitogen-activated protein kinase kinase kinase 12 (sprot)

description: A mitogen-activated protein kinase kinase kinase 12 that is encoded in the genome of human.


TERBINAFINE HYDROCHLORIDE

A hydrochloride obtained by reaction of terbinafine with one molar equivalent of hydrogen chloride.


name: NCTR2_HUMAN Natural cytotoxicity triggering receptor 2 (sprot)

description: A natural cytotoxicity triggering receptor 2 that is encoded in the genome of human.


CARMINIC ACID

A tetrahydroxyanthraquinone that is that is 1,3,4,6-tetrahydroxy-9,10-anthraquinone substituted by a methyl group at position 8, a carboxy group at position 7 and a 1,5-anhydro-D-glucitol moiety at position 2 via a C-glycosidic linkage. It is a natural dye isolated from several insects such as Dactylopius coccus.


stiff-person syndrome

description: Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.


NEAMINE

2-Deoxy-D-streptamine glycosylated at the 4-oxygen with a 6-amino-alpha-D-glucosaminyl group.


name: BUB3_HUMAN Mitotic checkpoint protein BUB3 (sprot)

description: A mitotic checkpoint protein BUB3 that is encoded in the genome of human.


eosinophilia-myalgia syndrome

description: A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)


name: T53I2_HUMAN Tumor protein p53-inducible nuclear protein 2 (sprot)

description: A tumor protein p53-inducible nuclear protein 2 that is encoded in the genome of human.


4-methylthio-2-oxobutanoic acid

A 2-oxo monocarboxylic acid derived from L-methionine via the action of methionine transaminase.


avoidant personality disorder

description: A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.


Euphoria

description: Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation.


name: ARGL1_HUMAN Arginine and glutamate-rich protein 1 (sprot)

description: An arginine and glutamate-rich protein 1 that is encoded in the genome of human.


name: DRC1_HUMAN Dynein regulatory complex protein 1 (sprot)

description: A coiled-coil domain-containing protein 164 that is encoded in the genome of human.


name: HENMT_HUMAN Small RNA 2'-O-methyltransferase (sprot)

description: A small RNA 2'-O-methyltransferase that is encoded in the genome of human.


name: UB2E3_HUMAN Ubiquitin-conjugating enzyme E2 E3 (sprot)

description: A ubiquitin-conjugating enzyme E2 E3 that is encoded in the genome of human.


name: AFF2_HUMAN AF4/FMR2 family member 2 (sprot)

description: An AF4/FMR2 family member 2 that is encoded in the genome of human.


name: PDE12_HUMAN 2',5'-phosphodiesterase 12 (sprot)

description: A 2',5'-phosphodiesterase 12 that is encoded in the genome of human.


High-frequency hearing impairment

description: A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).


pancreas disorder

description: A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.


name: NAA35_HUMAN N-alpha-acetyltransferase 35, NatC auxiliary subunit (sprot)

description: A protein MAK10 that is encoded in the genome of human.


name: DHB11_HUMAN Estradiol 17-beta-dehydrogenase 11 (sprot)

description: An estradiol 17-beta-dehydrogenase 11 that is encoded in the genome of human.


Mayer-Rokitansky-Kuster-Hauser syndrome

description: Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).


name: HEM6_HUMAN Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (sprot)

description: An oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial that is encoded in the genome of human.


name: SF3B2_HUMAN Splicing factor 3B subunit 2 (sprot)

description: A splicing factor 3B subunit 2 that is encoded in the genome of human.


cantharidic acid

A monoterpenoid with an epoxy-bridged bicyclic dicarboxylic acid structure, which acts as an inhibitor of protein phosphatases 1 and 2A.


name: NKX23_HUMAN Homeobox protein Nkx-2.3 (sprot)

description: A homeobox protein Nkx-2.3 that is encoded in the genome of human.


name: COG5_HUMAN Conserved oligomeric Golgi complex subunit 5 (sprot)

description: A conserved oligomeric Golgi complex subunit 5 that is encoded in the genome of human.


name: TTC36_HUMAN Tetratricopeptide repeat protein 36 (sprot)

description: A tetratricopeptide repeat protein 36 that is encoded in the genome of human.


name: RNS12_HUMAN Probable inactive ribonuclease-like protein 12 (sprot)

description: A ribonuclease-like protein 12 that is encoded in the genome of human.


name: MA1A2_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB (sprot)

description: A mannosyl-oligosaccharide 1,2-alpha-mannosidase IB that is encoded in the genome of human.


METH_HUMAN Methionine synthase (sprot)

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


name: PTPM1_HUMAN Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 (sprot)

description: A protein-tyrosine phosphatase mitochondrial 1 that is encoded in the genome of human.


Achilles tendonitis

description: Inflammation of the Achilles tendon.


A thiamine-triphosphatase that is encoded in the genome of human.


Panhypogammaglobulinemia

description: A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.


neurofibromatosis

description: A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.


Subungual hyperkeratosis

description: A thickening of the stratum corneum in the region beneath the nails.


name: RFXAP_HUMAN Regulatory factor X-associated protein (sprot)

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


iobitridol

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


cortical blindness

description: Visual impairment due to visual cortex dysfunction.


Peptide that acts as a mechanosensitive ion channel blocker.


ISOFORMONENTIN

A methoxyisoflavone that is isoflavone substituted at positions 4' and 7 by hydroxy and methoxy groups respectively.


RER1_HUMAN Protein RER1 (sprot)

A protein RER1 that is encoded in the genome of human.


Opportunistic bacterial infection

description: An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


name: ANR39_HUMAN Ankyrin repeat domain-containing protein 39 (sprot)

description: An ankyrin repeat domain-containing protein 39 that is encoded in the genome of human.


name: MGLYR_HUMAN Metabotropic glycine receptor (sprot)

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


hyperekplexia

description: A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia


Sneddon syndrome

description: Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.


SMO_HUMAN Protein smoothened (sprot)

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


tooth agenesis

description: A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.


name: R113A_HUMAN E3 ubiquitin-protein ligase RNF113A (sprot)

description: An E3 ubiquitin-protein ligase RNF113A that is encoded in the genome of human.


CNTRB_HUMAN Centrobin (sprot)

A centrobin that is encoded in the genome of human.


name: ZN470_HUMAN Zinc finger protein 470 (sprot)

description: A zinc finger protein 470 that is encoded in the genome of human.


name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


name: S2539_HUMAN Mitochondrial glutathione transporter SLC25A39 (sprot)

description: A probable mitochondrial glutathione transporter SLC25A39 that is encoded in the genome of human.


name: NTH_HUMAN Endonuclease III-like protein 1 (sprot)

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


camphor

A cyclic monoterpene ketone that is bornane bearing an oxo substituent at position 2. A naturally occurring monoterpenoid.


glycogen storage disease III

description: Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.


A trihydroxyflavanone having a structure of naringenin prenylated at C-6.


name: TIM9_HUMAN Mitochondrial import inner membrane translocase subunit Tim9 (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim9 that is encoded in the genome of human.


name: BACH_HUMAN Cytosolic acyl coenzyme A thioester hydrolase (sprot)

description: A cytosolic acyl coenzyme A thioester hydrolase that is encoded in the genome of human.


oral mucosa leukoplakia

description: A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.