colestipol hydrochloride

The hydrochloride of colestipol, a highly cross-linked, high molecular weight copolymer of diethylenetriamine and epichlorohydrin (hydrochloride), with approximately 1 out of 5 amine nitrogens protonated. It is used for binding bile acids in the intestine, inhibiting their reabsorption.


venous hemangioma

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

description: A rare slow growing benign tumor of aberrant and ectatic venous connections.


name: CLC4D_HUMAN C-type lectin domain family 4 member D (sprot)

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


name: CREL1_HUMAN Protein disulfide isomerase CRELD1 (sprot)

description: A protein disulfide isomerase CRELD1 that is encoded in the genome of human.


inner ear disorder

description: A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.


name: OSBL3_HUMAN Oxysterol-binding protein-related protein 3 (sprot)

description: An oxysterol-binding protein-related protein 3 that is encoded in the genome of human.


name: RHG39_HUMAN Rho GTPase-activating protein 39 (sprot)

description: A Rho GTPase-activating protein 39 that is encoded in the genome of human.


name: VWA2_HUMAN von Willebrand factor A domain-containing protein 2 (sprot)

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


name: DRAM2_HUMAN DNA damage-regulated autophagy modulator protein 2 (sprot)

description: A DNA damage-regulated autophagy modulator protein 2 that is encoded in the genome of human.


name: GMCL1_HUMAN Germ cell-less protein-like 1 (sprot)

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


angular cheilitis

description: Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.


familial hemolytic anemia

description: A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.


An oxaspiro compound that is(5beta,25R)-spirostan substituted by a beta-hydroxy group at position 3.


ethylenediamine dihydrochloride

A hydrochloride that is the dihydrochloride of ethylenediamine.


name: RBM25_HUMAN RNA-binding protein 25 (sprot)

description: An RNA-binding protein 25 that is encoded in the genome of human.


ammonium hydroxide

A solution of ammonia in water.


name: 5NT1A_HUMAN Cytosolic 5'-nucleotidase 1A (sprot)

description: A cytosolic 5'-nucleotidase 1A that is encoded in the genome of human.


ST-elevation myocardial infarction

description: A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.


name: LSM8_HUMAN U6 snRNA-associated Sm-like protein LSm8 (sprot)

description: A U6 snRNA-associated Sm-like protein LSm8 that is encoded in the genome of human.


name: TMC6_HUMAN Transmembrane channel-like protein 6 (sprot)

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


Intramuscular hematoma

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

description: Blood clot formed within muscle tissue following leakage of blood into the tissue.


name: idiopathic steroid-sensitive nephrotic syndrome

description: Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.


thrombocytopenia 4

description: Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.


RFLA_HUMAN Refilin-A (sprot)

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


name: LEO1_HUMAN RNA polymerase-associated protein LEO1 (sprot)

description: An RNA polymerase-associated protein LEO1 that is encoded in the genome of human.


4-methylsalicylic acid

A monohydroxybenzoic acid consisting of salicylic acid having a methyl group at the 4-position.


pulmonary aspergilloma

description: A aspergillosis that involves the lung.


tetracosane

A straight-chain alkane containing 24 carbon atoms.


name: C1QC_HUMAN Complement C1q subcomponent subunit C (sprot)

description: A complement C1q subcomponent subunit C that is encoded in the genome of human.


Adipose tissue loss

description: A loss of adipose tissue.


HINOKIFLAVONE

A biflavonoid that is apigenin substituted by a 4-(5,7-dihydroxy-4-oxo-4H-chromen-2-yl)phenoxy group at position 6. A diflavonyl ether, it is isolated from Rhus succedanea and has been found to possess significant cytotoxic potential.


alcoholic ketoacidosis

description: An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occurring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.


name: N6MT1_HUMAN Methyltransferase N6AMT1 (sprot)

description: A methyltransferase N6AMT1 that is encoded in the genome of human.


name: congenital disorder of glycosylation type I

description: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.


name: GPKOW_HUMAN G-patch domain and KOW motifs-containing protein (sprot)

description: A G-patch domain and KOW motifs-containing protein that is encoded in the genome of human.


chronic laryngitis

description: Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.


name: TOP3B_HUMAN DNA topoisomerase 3-beta-1 (sprot)

description: A DNA topoisomerase 3-beta-1 that is encoded in the genome of human.


name: FOXD4_HUMAN Forkhead box protein D4 (sprot)

description: A forkhead box protein D4 that is encoded in the genome of human.


anal melanoma

description: A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.


name: RNF6_HUMAN E3 ubiquitin-protein ligase RNF6 (sprot)

description: An E3 ubiquitin-protein ligase RNF6 that is encoded in the genome of human.


facial nerve disorder

description: A disease involving the facial nerve.


PD-153035 hydrochloride

A hydrochloride obtained by combining PD-153035 with one equivalent of hydrochloric acid.


name: RN121_HUMAN E3 ubiquitin ligase RNF121 (sprot)

description: An E3 ubiquitin ligase RNF121 that is encoded in the genome of human.


GM2 gangliosidosis

description: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.


name: CHCH7_HUMAN Coiled-coil-helix-coiled-coil-helix domain-containing protein 7 (sprot)

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


histiocytosis

description: A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.


name: FKB11_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP11 (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP11 that is encoded in the genome of human.


name: ARI4B_HUMAN AT-rich interactive domain-containing protein 4B (sprot)

description: An AT-rich interactive domain-containing protein 4B that is encoded in the genome of human.


name: PCDGG_HUMAN Protocadherin gamma-B4 (sprot)

description: A protocadherin gamma-B4 that is encoded in the genome of human.


delirium

description: A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)


Schimke immuno-osseous dysplasia

description: A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.


name: WFDC3_HUMAN WAP four-disulfide core domain protein 3 (sprot)

description: A WAP four-disulfide core domain protein 3 that is encoded in the genome of human.


TRICLOFENOL

A trichlorophenol carrying chloro groups at positions 2, 4 and 5.


name: NS1BP_HUMAN Influenza virus NS1A-binding protein (sprot)

description: An influenza virus NS1A-binding protein that is encoded in the genome of human.


name: LNP1_HUMAN Leukemia NUP98 fusion partner 1 (sprot)

description: A leukemia NUP98 fusion partner 1 that is encoded in the genome of human.


name: CCD43_HUMAN Coiled-coil domain-containing protein 43 (sprot)

description: A coiled-coil domain-containing protein 43 that is encoded in the genome of human.


left ventricular noncompaction

description: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.


name: CKLF7_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 7 (sprot)

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


name: CDK20_HUMAN Cyclin-dependent kinase 20 (sprot)

description: A cyclin-dependent kinase 20 that is encoded in the genome of human.


name: QCR8_HUMAN Cytochrome b-c1 complex subunit 8 (sprot)

description: A cytochrome b-c1 complex subunit 8 that is encoded in the genome of human.


Hypernatriuria

description: An increased concentration of sodium(1+) in the urine.


DORZOLAMIDE HYDROCHLORIDE

The hydrochloride salt of dorzolamide. It is used in ophthalmic solutions to lower increased intraocular pressure in the treatment of open-angle glaucoma and ocular hypertension.


name: PNPH_HUMAN Purine nucleoside phosphorylase (sprot)

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


name: TM9S4_HUMAN Transmembrane 9 superfamily member 4 (sprot)

description: A transmembrane 9 superfamily member 4 that is encoded in the genome of human.


name: HILS1_HUMAN Putative histone H1.9 (sprot)

description: A putative histone H1.9 that is encoded in the genome of human.


Metabolic ketoacidosis

description: A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


name: GLT11_HUMAN Polypeptide N-acetylgalactosaminyltransferase 11 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 11 that is encoded in the genome of human.


Japanese encephalitis

description: A disease due to a virus transmitted by an arthropod).


name: PLAT3_HUMAN Phospholipase A and acyltransferase 3 (sprot)

description: A phospholipase A and acyltransferase 3 that is encoded in the genome of human.


splenic disorder

description: A disease involving the spleen.


canine hemangiosarcoma

description: Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.


Hypoglycinemia

description: An abnormally reduced concentration of glycine in the blood.


endomyocardial fibrosis

description: A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.


name: ZBED6_HUMAN Zinc finger BED domain-containing protein 6 (sprot)

description: A zinc finger BED domain-containing protein 6 that is encoded in the genome of human.


Zygomycosis

description: Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.


name: TRM9B_HUMAN Probable tRNA methyltransferase 9B (sprot)

description: A probable tRNA methyltransferase 9B that is encoded in the genome of human.


SYS1_HUMAN Protein SYS1 homolog (sprot)

A protein SYS1 that is encoded in the genome of human.


ITACONATE

A dicarboxylic acid that is methacrylic acid in which one of the methyl hydrogens is substituted by a carboxylic acid group.


TBB8_HUMAN Tubulin beta-8 chain (sprot)

A tubulin beta-8 chain that is encoded in the genome of human.


name: M4K5_HUMAN Mitogen-activated protein kinase kinase kinase kinase 5 (sprot)

description: A mitogen-activated protein kinase kinase kinase kinase 5 that is encoded in the genome of human.


common cold

description: An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.


name: congenital hypothalamic hamartoma syndrome

description: Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.


NPHP3_HUMAN Nephrocystin-3 (sprot)

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


AAAS_HUMAN Aladin (sprot)

An aladin that is encoded in the genome of human.


dihydrophaseic acid

An apo carotenoid sesquiterpenoid that is phaseic acid in which the keto group has been reduced to the corresponding alcohol such that the two hydroxy groups are on opposite sides of the 6-membered ring.


name: SMOC1_HUMAN SPARC-related modular calcium-binding protein 1 (sprot)

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


name: MORC3_HUMAN MORC family CW-type zinc finger protein 3 (sprot)

description: A MORC family CW-type zinc finger protein 3 that is encoded in the genome of human.


name: ZMIZ2_HUMAN Zinc finger MIZ domain-containing protein 2 (sprot)

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


central nervous system angiosarcoma

description: A malignant vascular neoplasm arising from the brain, spinal cord or meninges.


SMAP_HUMAN Small acidic protein (sprot)

A small acidic protein that is encoded in the genome of human.


name: SH3R2_HUMAN E3 ubiquitin-protein ligase SH3RF2 (sprot)

description: An E3 ubiquitin-protein ligase SH3RF2 that is encoded in the genome of human.


name: TRAF7_HUMAN E3 ubiquitin-protein ligase TRAF7 (sprot)

description: An E3 ubiquitin-protein ligase TRAF7 that is encoded in the genome of human.


name: TMIG2_HUMAN Transmembrane and immunoglobulin domain-containing protein 2 (sprot)

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


name: FAAH2_HUMAN Fatty-acid amide hydrolase 2 (sprot)

description: A fatty-acid amide hydrolase 2 that is encoded in the genome of human.


name: HS3SB_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (sprot)

description: A heparan sulfate glucosamine 3-O-sulfotransferase 3B1 that is encoded in the genome of human.


OROXYLIN A

A dihydroxy- and monomethoxy-flavone in which the hydroxy groups are positioned at C-5 and C-7 and the methoxy group is at C-6.


glottis squamous cell carcinoma

description: A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.


neonatal hemochromatosis

description: Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4


diloxanide furoate

A carboxylic ester resulting from the formal condensation of the carboxy group of furan-2-carboxylic acid with the hydroxy group of 2,2-dichloro-N-(4-hydroxyphenyl)-N-methylacetamide. It is a drug used for the treatment of asymptomatic amebiasis.


renal hypoplasia

description: Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.


monoclonal paraproteinemia disease

description: A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.


name: CSN4_HUMAN COP9 signalosome complex subunit 4 (sprot)

description: A COP9 signalosome complex subunit 4 that is encoded in the genome of human.


name: TTL10_HUMAN Inactive polyglycylase TTLL10 (sprot)

description: A protein polyglycylase TTLL10 that is encoded in the genome of human.


Alzheimer disease 10

description: An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.


myxoid chondrosarcoma

description: A chondrosarcoma characterized by the presence of myxoid changes.


name: ZFHX2_HUMAN Zinc finger homeobox protein 2 (sprot)

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


name: TMM11_HUMAN Transmembrane protein 11, mitochondrial (sprot)

description: A transmembrane protein 11, mitochondrial that is encoded in the genome of human.


name: ATS6_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 6 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 6 that is encoded in the genome of human.


name: CC85B_HUMAN Coiled-coil domain-containing protein 85B (sprot)

description: A coiled-coil domain-containing protein 85B that is encoded in the genome of human.


name: PUR9_HUMAN Bifunctional purine biosynthesis protein ATIC (sprot)

description: A bifunctional purine biosynthesis protein ATIC that is encoded in the genome of human.


22q11.2 deletion syndrome

description: 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


PTTG2_HUMAN Securin-2 (sprot)

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


name: POMP_HUMAN Proteasome maturation protein (sprot)

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


PYRROLE

A tautomer of pyrrole that has the double bonds at positions 2 and 4.


nephropathic cystinosis

description: An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.


name: MINY3_HUMAN Ubiquitin carboxyl-terminal hydrolase MINDY-3 (sprot)

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


trophoblastic neoplasm

description: A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.


invasive ductal and lobular carcinoma

description: An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.


IODOCARB

A carbamate ester that is carbamic acid in which the nitrogen has been substituted by a butyl group and in which the hydrogen of the carboxy group is replaced by a 1-iodoprop-2-yn-3-yl group. A fungicide, it is used as a preservative and sapstain control chemical in wood products and as a preservative in adhesives, paints, latex paper coating, plastic, water-based inks, metal working fluids, textiles, and numerous consumer products.


name: CPXM1_HUMAN Probable carboxypeptidase X1 (sprot)

description: A probable carboxypeptidase X1 that is encoded in the genome of human.


name: TF3C1_HUMAN General transcription factor 3C polypeptide 1 (sprot)

description: A general transcription factor 3C polypeptide 1 that is encoded in the genome of human.


AB12B_HUMAN Protein ABHD12B (sprot)

A protein ABHD12B that is encoded in the genome of human.


name: S35D2_HUMAN Nucleotide sugar transporter SLC35D2 (sprot)

description: A nucleotide sugar transporter SLC35D2 that is encoded in the genome of human.


hypothalamic disorder

description: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


name: O2AG1_HUMAN Olfactory receptor 2AG1 (sprot)

description: An olfactory receptor 2AG1 that is encoded in the genome of human.


upper respiratory tract disorder

description: A disease involving the upper respiratory tract.


ESF1_HUMAN ESF1 homolog (sprot)

An ESF1 that is encoded in the genome of human.


name: SYF2_HUMAN Pre-mRNA-splicing factor SYF2 (sprot)

description: A pre-mRNA-splicing factor SYF2 that is encoded in the genome of human.


name: DHDH_HUMAN Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase (sprot)

description: A trans-1,2-dihydrobenzene-1,2-diol dehydrogenase that is encoded in the genome of human.


name: MPI_HUMAN Mannose-6-phosphate isomerase (sprot)

description: A mannose-6-phosphate isomerase that is encoded in the genome of human.


hemarthrosis

description: Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.


hereditary glaucoma

description: Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.


name: TRM7_HUMAN tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (sprot)

description: A ribosomal RNA methyltransferase 1 that is encoded in the genome of human.


brain hypoxia - ischemia

description: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.


DCNL1_HUMAN DCN1-like protein 1 (sprot)

A DCN1-like protein 1 that is encoded in the genome of human.


CHILD syndrome

description: CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


name: SCHI1_HUMAN Schwannomin-interacting protein 1 (sprot)

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


Alkalemia

description: An abnormally high blood pH (usually defined as 7.41 or above).


name: KI13B_HUMAN Kinesin-like protein KIF13B (sprot)

description: A kinesin-like protein KIF13B that is encoded in the genome of human.


epidermolysis bullosa

description: Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.


name: MRGX1_HUMAN Mas-related G-protein coupled receptor member X1 (sprot)

description: A Mas-related G-protein coupled receptor X1 that is encoded in the genome of human.


An enone that is a tetraprenyl benzophenone derivative isolated from Rheedia gardneriana and Garcinia brasiliensis. It exhibits anti-allergic, antibacterial, trypanocidal and vasodilating activities.


overgrowth syndrome

description: A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.


bone marrow disorder

description: Any disease of the bone marrow.


name: LMLN_HUMAN Leishmanolysin-like peptidase (sprot)

description: A leishmanolysin-like peptidase that is encoded in the genome of human.


name: ANR49_HUMAN Ankyrin repeat domain-containing protein 49 (sprot)

description: An ankyrin repeat domain-containing protein 49 that is encoded in the genome of human.


name: CHC10_HUMAN Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial (sprot)

description: A coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial that is encoded in the genome of human.


thyroid lymphoma

description: A lymphoma primarily involving the thyroid gland.


name: S13A1_HUMAN Solute carrier family 13 member 1 (sprot)

description: A solute carrier family 13 member 1 that is encoded in the genome of human.


name: K1C12_HUMAN Keratin, type I cytoskeletal 12 (sprot)

description: A keratin, type I cytoskeletal 12 that is encoded in the genome of human.


name: FACE2_HUMAN CAAX prenyl protease 2 (sprot)

description: A CAAX prenyl protease 2 that is encoded in the genome of human.


name: AG10A_HUMAN Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (sprot)

description: A Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A that is encoded in the genome of human.


octanol

An octanol carrying the hydroxy group at position 1.


TAXIFOLIN

A pentahydroxyflavanone that is the 2,3-dihydro derivative of quercetin.


Axial muscle weakness

description: Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).


THIAMIN DIPHOSPHATE

An ammonium betaine that is the conjugate base of thiamine(1+) diphosphate arising from the deprotonation of one of the hydroxy groups of the terminal phosphate group.


IFNL4_HUMAN Interferon lambda-4 (sprot)

A protein that is a translation product of the IFNL4 gene in human.


name: PKHA4_HUMAN Pleckstrin homology domain-containing family A member 4 (sprot)

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


carcinoma of parotid gland

description: A carcinoma that involves the parotid gland.


gangliosidosis

description: A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.


atrophy of thyroid

description: Tissue degeneration and diminished size of the thyroid gland.


name: FMO2_HUMAN Flavin-containing monooxygenase 2 (sprot)

description: A flavin-containing monooxygenase 2 that is encoded in the genome of human.


name: RN133_HUMAN E3 ubiquitin-protein ligase RNF133 (sprot)

description: An E3 ubiquitin-protein ligase RNF133 that is encoded in the genome of human.


stearoyl-CoA

A long-chain fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of stearic acid.


GARTANIN

A member of the class of  xanthones that is 9H-xanthen-9-one substituted by hydroxy groups at positions 1, 3, 5 and 8 and prenyl groups at positions 2 and 4.


name: BPI_HUMAN Bactericidal permeability-increasing protein (sprot)

description: A bactericidal permeability-increasing protein that is encoded in the genome of human.


name: MIC19_HUMAN MICOS complex subunit MIC19 (sprot)

description: A MICOS complex subunit MIC19 that is encoded in the genome of human.


malignant endocrine neoplasm

description: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


name: LRIG2_HUMAN Leucine-rich repeats and immunoglobulin-like domains protein 2 (sprot)

description: A leucine-rich repeats and immunoglobulin-like domains protein 2 that is encoded in the genome of human.


NAPROXEN SODIUM

An organic sodium salt consisting of equimolar amounts of naproxen(1-) anions and sodium anions.


L-pipecolic acid

The L-enantiomer of pipecolic acid. It is a metabolite of lysine.


pemphigus

description: Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus


name: ANKK1_HUMAN Ankyrin repeat and protein kinase domain-containing protein 1 (sprot)

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


name: CEL3A_HUMAN Chymotrypsin-like elastase family member 3A (sprot)

description: A chymotrypsin-like elastase family member 3A that is encoded in the genome of human.


name: HECA2_HUMAN HEPACAM family member 2 (sprot)

description: A HEPACAM family member 2 that is encoded in the genome of human.


QUERCITRIN

A quercetin O-glycoside that is quercetin substituted by a alpha-L-rhamnosyl moiety at position 3 via a glycosidic linkage.


name: BUD23_HUMAN Probable 18S rRNA (guanine-N(7))-methyltransferase (sprot)

description: A probable 18S rRNA (guanine-N(7))-methyltransferase that is encoded in the genome of human.


adenohypophysitis

description: An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.


name: PCSK4_HUMAN Proprotein convertase subtilisin/kexin type 4 (sprot)

description: A proprotein convertase subtilisin/kexin type 4 that is encoded in the genome of human.


staphylococcus aureus pneumonia

description: An pneumonia caused by infection with Staphylococcus aureus.


sarcosinemia

description: Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.


FISETINIDOL

A tetrahydroxyflavan that is (2S)-flavan substituted by hydroxy groups at positions 3, 7, 3' and 4'.


ROCURONIUM BROMIDE

The organic bromide salt of a 5alpha androstane compound having 3alpha-hydroxy-, 17beta-acetoxy-, 2beta-morpholino- and 16beta-N-allyllyrrolidinium substituents.


vulvar leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.


name: LY66D_HUMAN Lymphocyte antigen 6 complex locus protein G6d (sprot)

description: A lymphocyte antigen 6 complex locus protein G6d that is encoded in the genome of human.


name: NSE3_HUMAN Non-structural maintenance of chromosomes element 3 homolog (sprot)

description: A non-structural maintenance of chromosomes element 3 homolog that is encoded in the genome of human.


name: PM34_HUMAN Peroxisomal membrane protein PMP34 (sprot)

description: A peroxisomal membrane protein PMP34 that is encoded in the genome of human.


name: SBK3_HUMAN Uncharacterized serine/threonine-protein kinase SBK3 (sprot)

description: An uncharacterized serine/threonine-protein kinase SBK3 that is encoded in the genome of human.


glucoraphanin

A thia-glucosinolic acid that is glucoerucin in which the sulfur atom of the methyl thioether group has been oxidised to the corresponding sulfoxide.


name: CELF5_HUMAN CUGBP Elav-like family member 5 (sprot)

description: A CUGBP Elav-like family member 5 that is encoded in the genome of human.


CINACALCET HYDROCHLORIDE

A hydrochloride derived from equimolar amounts of cinacalcet and hydrogen chloride.


name: MRCKG_HUMAN Serine/threonine-protein kinase MRCK gamma (sprot)

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


name: PDIP3_HUMAN Polymerase delta-interacting protein 3 (sprot)

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


phosphatidylethanolamine (P-16:0/20:5)

A phosphatidylethanolamine P-36:5 in which the 1-alkenyl group contains 16 carbons and no additional double bonds while the acyl group contains 20 carbons and 5 double bonds.


name: FBSP1_HUMAN F-box/SPRY domain-containing protein 1 (sprot)

description: An F-box/SPRY domain-containing protein 1 that is encoded in the genome of human.


supratentorial meningioma

description: A meningioma that affects the supratentorial brain.


Proximal tubulopathy

description: Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.


SEPT5_HUMAN Septin-5 (sprot)

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


clorazepate

A 1,4-benzodiazepinone in which the oxo group is at position 2, and which is substituted at positions 3, 5, and 7 by carboxy, phenyl and chloro groups, respectively.


transient global amnesia

description: A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.


heart conduction disease

description: A disease that has its basis in the disruption of the heart's electrical conduction system.


name: CCDC8_HUMAN Coiled-coil domain-containing protein 8 (sprot)

description: A coiled-coil domain-containing protein 8 that is encoded in the genome of human.


name: CEP68_HUMAN Centrosomal protein of 68 kDa (sprot)

description: A centrosomal protein of 68 kDa that is encoded in the genome of human.


phosphatidylethanolamine (P-16:0/20:3)

A phosphatidylethanolamine P-36:3 in which the 1-alkenyl group contains 16 carbons and no additional double bonds while the acyl group contains 20 carbons and 3 double bonds.


late-onset Parkinson disease

description: A Parkinson disease that begins after around the age of 50.


complex hereditary spastic paraplegia

description: A hereditary spastic paraplegia that is part of a larger syndrome.


Bilateral tonic-clonic seizure

description: A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.


name: CTRO_HUMAN Citron Rho-interacting kinase (sprot)

description: A citron Rho-interacting kinase that is encoded in the genome of human.


name: Noonan syndrome with multiple lentigines

description: A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.


Cerebral hypomyelination

description: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.


name: NPFF1_HUMAN Neuropeptide FF receptor 1 (sprot)

description: A neuropeptide FF receptor 1 that is encoded in the genome of human.


name: FUT11_HUMAN Alpha-(1,3)-fucosyltransferase 11 (sprot)

description: An alpha-(1,3)-fucosyltransferase 11 that is encoded in the genome of human.


cystic disease of lung

description: The presence of multiple lung cysts.


vulvar neoplasm

description: A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.


exophthalmos

description: The anterior displacement of the eye within the orbit, giving a bulging appearance.


hereditary methemoglobinemia

description: Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.


name: RAB38_HUMAN Ras-related protein Rab-38 (sprot)

description: A Ras-related protein Rab-38 that is encoded in the genome of human.


name: NETO1_HUMAN Neuropilin and tolloid-like protein 1 (sprot)

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


SH3G3_HUMAN Endophilin-A3 (sprot)

An endophilin-A3 that is encoded in the genome of human.


glycogen storage disease VII

description: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


name: RCC1L_HUMAN RCC1-like G exchanging factor-like protein (sprot)

description: An RCC1-like G exchanging factor-like protein that is encoded in the genome of human.


BENSERAZIDE HYDROCHLORIDE

A hydrochloride that is the monohydrochloride salt of benserazide. An aromatic-L-amino-acid decarboxylase inhibitor (DOPA decarboxylase inhibitor) that does not enter the central nervous system, it is used as an adjunct to levodopa in the treatment of parkinsonism. By preventing the conversion of levodopa to dopamine in the periphery, it causes an increase in the amount of levodopa reaching the central nervous system and so reduces the required dose. Benserazide hydrochloride has no antiparkinson actions when given alone.


CETHROMYCIN

A macrolide antibiotic which displays in vitro activity against both gram-positive and gram-negative bacteria and is currently under investigation for the treatment of community-acquired pneumonia. The US Food and Drug Administration (FDA) have also granted orphan drug designation to cethromycin for the treatment of anthrax prophylaxis, tularemia, and plague (PDB entry: 1NWX).


Bruck syndrome

description: Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.


isolated congenital adermatoglyphia

description: Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.


acute leukemia of ambiguous lineage

description: An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)


name: MPP3_HUMAN MAGUK p55 subfamily member 3 (sprot)

description: A MAGUK p55 subfamily member 3 that is encoded in the genome of human.


name: SAMD3_HUMAN Sterile alpha motif domain-containing protein 3 (sprot)

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


name: OX2R_HUMAN Orexin receptor type 2 (sprot)

description: An orexin receptor type 2 that is encoded in the genome of human.


name: RFWD3_HUMAN E3 ubiquitin-protein ligase RFWD3 (sprot)

description: An E3 ubiquitin-protein ligase RFWD3 that is encoded in the genome of human.


skeletal muscle disorder

description: A disease involving the skeletal muscle tissue.


name: AN30A_HUMAN Ankyrin repeat domain-containing protein 30A (sprot)

description: An ankyrin repeat domain-containing protein 30A that is encoded in the genome of human.


flomoxef

A second-generation oxacephem antibiotic in which the oxazine ring is substituted at C-3 with a hydroxyethyl-substituted tetrazolylthiomethyl group and the azetidinone ring carries 7alpha-methoxy and 7beta-{2-[(difluoromethyl)thiomethyl]acetamido} substituents.


name: GP183_HUMAN G-protein coupled receptor 183 (sprot)

description: A G-protein coupled receptor 183 that is encoded in the genome of human.


name: PKHG6_HUMAN Pleckstrin homology domain-containing family G member 6 (sprot)

description: A pleckstrin homology domain-containing family G member 6 that is encoded in the genome of human.


name: chlamydia trachomatis infectious disease

description: An infection that is caused by Chlamydia trachomatis.


name: KCRB_HUMAN Creatine kinase B-type (sprot)

description: A creatine kinase B-type that is encoded in the genome of human.


hyperostosis corticalis generalisata

description: Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.


name: CENPH_HUMAN Centromere protein H (sprot)

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


congenital generalized lipodystrophy

description: An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.


name: RGS13_HUMAN Regulator of G-protein signaling 13 (sprot)

description: A regulator of G-protein signaling 13 that is encoded in the genome of human.


perfluorohexanesulfonic acid

A perfluoroalkanesulfonic acid that is hexane-1-sulfonic acid in which all thirteen of the hydrogens that are attached to carbons have been replaced by fluorines.


name: SAP30_HUMAN Histone deacetylase complex subunit SAP30 (sprot)

description: A histone deacetylase complex subunit SAP30 that is encoded in the genome of human.


RPH3L_HUMAN Rab effector Noc2 (sprot)

A Rab effector Noc2 that is encoded in the genome of human.


name: autoimmune interstitial lung disease-arthritis syndrome

description: A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.


name: TX1B3_HUMAN Tax1-binding protein 3 (sprot)

description: A Tax1-binding protein 3 that is encoded in the genome of human.


name: VP13A_HUMAN Intermembrane lipid transfer protein VPS13A (sprot)

description: An intermembrane lipid transfer protein VPS13A that is encoded in the genome of human.


name: TGM4_HUMAN Protein-glutamine gamma-glutamyltransferase 4 (sprot)

description: A protein-glutamine gamma-glutamyltransferase 4 that is encoded in the genome of human.


name: ACINU_HUMAN Apoptotic chromatin condensation inducer in the nucleus (sprot)

description: An apoptotic chromatin condensation inducer in the nucleus that is encoded in the genome of human.


name: NDST2_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 (sprot)

description: A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 that is encoded in the genome of human.


name: IRAG2_HUMAN Inositol 1,4,5-triphosphate receptor associated 2 (sprot)

description: An inositol 1,4,5-triphosphate receptor associated 2 that is encoded in the genome of human.


Helicobacter pylori infection

description: A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.


lisofylline

A 1-(5-hydroxyhexyl)-3,7-dimethyl-3,7-dihydro-1H-purine-2,6-dione that has (R)-configuration. A synthetic small molecule which was under development for the treatment of type 1 diabetes mellitus.


Christianson syndrome

description: A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.


name: PTPRG_HUMAN Receptor-type tyrosine-protein phosphatase gamma (sprot)

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


sodium nitroprusside dihydrate

A hydrate that is the dihydrate form of sodium nitroprusside.


SYNE3_HUMAN Nesprin-3 (sprot)

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


name: IKZF4_HUMAN Zinc finger protein Eos (sprot)

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


name: ASB3_HUMAN Ankyrin repeat and SOCS box protein 3 (sprot)

description: An ankyrin repeat and SOCS box protein 3 that is encoded in the genome of human.


piclidenoson

A derivative of adenosine in which the 5'-hydroxymethyl group is replaced by N-ethylcarboxamido and one of the hydrogens of the exocyclic amino function is substituted by a 3-iodobenzyl group.


name: ECM29_HUMAN Proteasome adapter and scaffold protein ECM29 (sprot)

description: A proteasome adapter and scaffold protein ECM29 that is encoded in the genome of human.


butamben

An amino acid ester resulting from the formal condensation of the carboxy group of 4-aminobenzoic acid with the hydroxy group of butan-1-ol. Its local anaesthetic properties have been used for surface anaesthesia of the skin and mucous membranes, and for relief of pain and itching associated with some anorectal disorders.


MTCP1_HUMAN Protein p13 MTCP-1 (sprot)

A protein p13 MTCP-1 that is encoded in the genome of human.


name: HEM2_HUMAN Delta-aminolevulinic acid dehydratase (sprot)

description: A delta-aminolevulinic acid dehydratase that is encoded in the genome of human.


name: SAC2_HUMAN Phosphatidylinositide phosphatase SAC2 (sprot)

description: A phosphatidylinositide phosphatase SAC2 that is encoded in the genome of human.


TXLNG_HUMAN Gamma-taxilin (sprot)

A gamma-taxilin that is encoded in the genome of human.


name: TSPY3_HUMAN Testis-specific Y-encoded protein 3 (sprot)

description: A testis-specific Y-encoded protein 3 that is encoded in the genome of human.


name: IFM5_HUMAN Interferon-induced transmembrane protein 5 (sprot)

description: An interferon-induced transmembrane protein 5 that is encoded in the genome of human.


immune-complex glomerulonephritis

description: Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.


ISOPHTHALIC ACID

A benzenedicarboxylic acid that is benzene substituted by carboxy groups at position 1 and 3. One of three possible isomers of benzenedicarboxylic acid, the others being phthalic and terephthalic acids.


name: LYPD1_HUMAN Ly6/PLAUR domain-containing protein 1 (sprot)

description: An Ly6/PLAUR domain-containing protein 1 that is encoded in the genome of human.


name: AGRG5_HUMAN Adhesion G-protein coupled receptor G5 (sprot)

description: An adhesion G-protein coupled receptor G5 that is encoded in the genome of human.


name: H2AW_HUMAN Core histone macro-H2A.2 (sprot)

description: A core histone macro-H2A.2 that is encoded in the genome of human.


name: TM11A_HUMAN Transmembrane protease serine 11A (sprot)

description: A transmembrane protease serine 11A that is encoded in the genome of human.


keratoconjunctivitis

description: Inflammation of both the cornea and the conjunctiva.


name: PHOP2_HUMAN Pyridoxal phosphate phosphatase PHOSPHO2 (sprot)

description: A pyridoxal phosphate phosphatase PHOSPHO2 that is encoded in the genome of human.


name: DCBD2_HUMAN Discoidin, CUB and LCCL domain-containing protein 2 (sprot)

description: A discoidin, CUB and LCCL domain-containing protein 2 that is encoded in the genome of human.


BENZOXAZOLINONE

A member of the class of benzoxazoles that is 2,3-dihydro-1,3-benzoxazole carrying an oxo group at position 2.


name: SC11C_HUMAN Signal peptidase complex catalytic subunit SEC11C (sprot)

description: A signal peptidase complex catalytic subunit SEC11C that is encoded in the genome of human.


SODIUM PERCHLORATE

An inorganic sodium salt comprising equal numbers of sodium and perchlorate ions.


name: HSPB7_HUMAN Heat shock protein beta-7 (sprot)

description: A heat shock protein beta-7 that is encoded in the genome of human.


metaraminol

A member of the class of phenylethanolamines that is 2-amino-1-phenylethanol substituted by a methyl group at position 2 and a phenolic hydroxy group at position 1. A  sympathomimetic agent , it is used in the treatment of hypotension.


name: syndromic X-linked intellectual disability Snyder type

description: Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.


name: progressive encephalomyelitis with rigidity and myoclonus


MYPN_HUMAN Myopalladin (sprot)

A myopalladin that is encoded in the genome of human.


cefodizime

A cephalosporin compound having 5-(carboxymethyl)-4-methyl-1,3-thiazol-2-yl]sulfanyl}methyl and [2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino side groups located at positions 3 and 7 respectively.


name: RBBP9_HUMAN Serine hydrolase RBBP9 (sprot)

description: A serine hydrolase RBBP9 that is encoded in the genome of human.


name: KCTD6_HUMAN BTB/POZ domain-containing protein KCTD6 (sprot)

description: A BTB/POZ domain-containing protein KCTD6 that is encoded in the genome of human.


METHYLPHOSPHONIC ACID DIISOPROPYL ESTER

An organic phosphonate that is the diisopropyl ester of methylphosphonic acid.


oxiconazole

An oxime O-ether that is the 2,4-dichlorobenzyl ether of the oxime obtained by formal condensation of hydroxylamine with the carbonyl group of acetopnenone in which the phenyl group is substituted by chlorines at positions 2 and 4, and in which one of the hydrogens of the methyl group is replaced by a 1H-imidazol-1-yl group. An antifungal agent, it is used (generally as the nitrate salt) in creams and powders for the topical treatment of fungal skin infections.


name: PKRI1_HUMAN PRKR-interacting protein 1 (sprot)

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


2-lysophosphatidic acid

Any member of the class of lysophosphatidic acids which has a free hydroxy group at the 2-position of the glycerol moiety.


name: UBAC2_HUMAN Ubiquitin-associated domain-containing protein 2 (sprot)

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


proteostasis deficiencies

description: Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.


TSN_HUMAN Translin (sprot)

A translin that is encoded in the genome of human.


esophagus squamous cell papilloma

description: A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.


paroxysmal cold hemoglobinuria

description: Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.


alpha thalassemia spectrum

description: An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.


glucagonoma

description: Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.


name: ISK8_HUMAN Serine protease inhibitor Kazal-type 8 (sprot)

description: A serine protease inhibitor Kazal-type 8 that is encoded in the genome of human.


name: thymic large cell neuroendocrine carcinoma

description: An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis.


ileocolitis

description: Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.


name: ACO12_HUMAN Acetyl-coenzyme A thioesterase (sprot)

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


ATX1L_HUMAN Ataxin-1-like (sprot)

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


name: ZNHI3_HUMAN Zinc finger HIT domain-containing protein 3 (sprot)

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


DRAXI_HUMAN Draxin (sprot)

A draxin that is encoded in the genome of human.


iatrogenic Kaposi's sarcoma

description: A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.


CAN14_HUMAN Calpain-14 (sprot)

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


amyotrophic neuralgia

description: An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.


name: GBRA4_HUMAN Gamma-aminobutyric acid receptor subunit alpha-4 (sprot)

description: A gamma-aminobutyric acid receptor subunit alpha-4 that is encoded in the genome of human.


name: GPR83_HUMAN G-protein coupled receptor 83 (sprot)

description: A G-protein coupled receptor 83 that is encoded in the genome of human.


GAGE1_HUMAN G antigen 1 (sprot)

A G antigen 1 that is encoded in the genome of human.


name: CHST7_HUMAN Carbohydrate sulfotransferase 7 (sprot)

description: A carbohydrate sulfotransferase 7 that is encoded in the genome of human.


name: GPM6A_HUMAN Neuronal membrane glycoprotein M6-a (sprot)

description: A neuronal membrane glycoprotein M6-a that is encoded in the genome of human.


name: INT7_HUMAN Integrator complex subunit 7 (sprot)

description: An integrator complex subunit 7 that is encoded in the genome of human.


DIHYDROFERULIC ACID

A monocarboxylic acid that is propanoic acid in which one of the hydrogens at position 3 has been replaced by a 4-hydroxy-3-methoxyphenyl group.


alpha-muricholic acid

A member of the class of muricholic acids in which the hydroxy groups at positions 6 and 7 have beta- and alpha- configuration respectively.


name: BORG2_HUMAN Cdc42 effector protein 3 (sprot)

description: A Cdc42 effector protein 3 that is encoded in the genome of human.


squamous cell carcinoma of pancreas

description: A squamous cell carcinoma that involves the pancreas.


name: AN32B_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member B (sprot)

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


name: HAOX2_HUMAN 2-Hydroxyacid oxidase 2 (sprot)

description: A 2-hydroxyacid oxidase 2 that is encoded in the genome of human.


name: RL6_HUMAN Large ribosomal subunit protein eL6 (sprot)

description: A large ribosomal subunit protein eL6 that is encoded in the genome of human.


name: PR15B_HUMAN Protein phosphatase 1 regulatory subunit 15B (sprot)

description: A protein phosphatase 1 regulatory subunit 15B that is encoded in the genome of human.


THIOPROLINE

An optically active version of thioproline having L-configuration.


name: PIDD1_HUMAN p53-induced death domain-containing protein 1 (sprot)

description: A p53-induced death domain-containing protein 1 that is encoded in the genome of human.


CPLX3_HUMAN Complexin-3 (sprot)

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


name: ELP3_HUMAN Elongator complex protein 3 (sprot)

description: An elongator complex protein 3 that is encoded in the genome of human.


ehrlichiosis

description: An disease or disorder caused by infection with Ehrlichia.


Gitelman syndrome

description: Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.


neuronal ceroid lipofuscinosis 7

description: Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


solitary osseous plasmacytoma

description: A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.


prostate sarcoma

description: A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.


name: GRP_HUMAN Gastrin-releasing peptide (sprot)

description: A gastrin-releasing peptide that is encoded in the genome of human.


desmosterolosis

description: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


name: SEC12_HUMAN Guanine nucleotide-exchange factor SEC12 (sprot)

description: A prolactin regulatory element-binding protein that is encoded in the genome of human.


name: PAQR7_HUMAN Membrane progestin receptor alpha (sprot)

description: A membrane progestin receptor alpha that is encoded in the genome of human.


name: congenital secretory chloride diarrhea 1

description: Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.


name: AVL9_HUMAN Late secretory pathway protein AVL9 homolog (sprot)

description: A late secretory pathway protein AVL9 that is encoded in the genome of human.


name: BTBD9_HUMAN BTB/POZ domain-containing protein 9 (sprot)

description: A BTB/POZ domain-containing protein 9 that is encoded in the genome of human.


acquired von willebrand syndrome

description: Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.


name: TIKI2_HUMAN Metalloprotease TIKI2 (sprot)

description: A metalloprotease TIKI2 that is encoded in the genome of human.


name: SAM50_HUMAN Sorting and assembly machinery component 50 homolog (sprot)

description: A sorting and assembly machinery component 50 that is encoded in the genome of human.


The 16alpha-hydroxy derivative of estrone; a minor estrogen metabolite.


name: ZHX3_HUMAN Zinc fingers and homeoboxes protein 3 (sprot)

description: A zinc fingers and homeoboxes protein 3 that is encoded in the genome of human.


name: HXD4_HUMAN Homeobox protein Hox-D4 (sprot)

description: A homeobox protein Hox-D4 that is encoded in the genome of human.


ZNT7_HUMAN Zinc transporter 7 (sprot)

A zinc transporter 7 that is encoded in the genome of human.


name: LCN9_HUMAN Epididymal-specific lipocalin-9 (sprot)

description: An epididymal-specific lipocalin-9 that is encoded in the genome of human.


name: TCRG1_HUMAN Transcription elongation regulator 1 (sprot)

description: A transcription elongation regulator 1 that is encoded in the genome of human.


sulfabromomethazine

A sulfonamide consisting of 5-bromo-4,6-dimethylpyrimidine with a 4-aminobenzenesulfonamido group at the 2-position. A long-acting derivative of sulfamezathine, it is used in the poultry, swine and cattle industries for the treatment of coccidiosis and various bacterial infections.


Arachnodactyly

description: Abnormally long and slender fingers ("spider fingers").


Cole-Carpenter syndrome

description: An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).


pneumonic tularemia

description: A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.


name: KCRS_HUMAN Creatine kinase S-type, mitochondrial (sprot)

description: A creatine kinase S-type, mitochondrial that is encoded in the genome of human.


name: PYRD2_HUMAN Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 (sprot)

description: A pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 that is encoded in the genome of human.


name: PYRD1_HUMAN Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 (sprot)

description: A pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 that is encoded in the genome of human.


name: polyposis of gastric fundus without polyposis coli

description: Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.


name: HMR1_HUMAN Major histocompatibility complex class I-related gene protein (sprot)

description: An MHC class I-related gene protein that is encoded in the genome of human.


Beta 2-microglobulinuria

description: Increased level of beta 2-microglobulins in the urine.


choroiditis

description: An inflammatory process that affects the choroid.


monoclonal gammopathy

description: A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine.


undifferentiated carcinoma of esophagus

description: An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.


name: RINT1_HUMAN RAD50-interacting protein 1 (sprot)

description: A RAD50-interacting protein 1 that is encoded in the genome of human.


name: NSA2_HUMAN Ribosome biogenesis protein NSA2 homolog (sprot)

description: A ribosome biogenesis protein NSA2 that is encoded in the genome of human.


name: ATPD_HUMAN ATP synthase subunit delta, mitochondrial (sprot)

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


familial hyperaldosteronism

description: Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.


NEUFC_HUMAN Neuferricin (sprot)

A neuferricin that is encoded in the genome of human.


PTEN hamartoma tumor syndrome

description: A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.


name: TIM13_HUMAN Mitochondrial import inner membrane translocase subunit Tim13 (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim13 that is encoded in the genome of human.


name: OR2W3_HUMAN Olfactory receptor 2W3 (sprot)

description: An olfactory receptor 2W3 that is encoded in the genome of human.


name: OSBL9_HUMAN Oxysterol-binding protein-related protein 9 (sprot)

description: An oxysterol-binding protein-related protein 9 that is encoded in the genome of human.


myristoyl-CoA

A long-chain fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of myristic acid.


cartilage development disorder

description: Any dysfunction in the growth of cartilage.


name: FKB10_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP10 (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP10 that is encoded in the genome of human.


Acute bronchitis

description: Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.


hypervitaminosis A

description: A symptom complex resulting from ingesting excessive amounts of vitamin A.


name: DJC28_HUMAN DnaJ homolog subfamily C member 28 (sprot)

description: A DnaJ homolog subfamily C member 28 that is encoded in the genome of human.


laryngeal disorder

description: A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.


A member of the class of 5beta-cholanic acids that is (5beta)-cholan-24-oic acid substituted by alpha-hydroxy groups at positions 3 and 6.


suppurative otitis media

description: Inflammation of the middle ear with purulent discharge.


name: ZDH16_HUMAN Palmitoyltransferase ZDHHC16 (sprot)

description: A palmitoyltransferase ZDHHC16 that is encoded in the genome of human.


transverse colon cancer

description: A malignant neoplasm involving the transverse colon.


name: S45A2_HUMAN Membrane-associated transporter protein (sprot)

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


carbenicillin

A penicillin antibiotic having a 6beta-2-carboxy-2-phenylacetamido side-chain.


name: TRRAP_HUMAN Transformation/transcription domain-associated protein (sprot)

description: A transformation/transcription domain-associated protein that is encoded in the genome of human.


Low-frequency hearing loss

description: A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).


Superficial thrombophlebitis

description: Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).


name: SCUB2_HUMAN Signal peptide, CUB and EGF-like domain-containing protein 2 (sprot)

description: A signal peptide, CUB and EGF-like domain-containing protein 2 that is encoded in the genome of human.


name: T-cell childhood acute lymphocytic leukemia

description: An acute lymphoblastic leukemia of T-cell origin occurring in children.


name: IER2_HUMAN Immediate early response gene 2 protein (sprot)

description: An immediate early response gene 2 protein that is encoded in the genome of human.


allergic bronchopulmonary aspergillosis

description: Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.


name: RAGE_HUMAN Advanced glycosylation end product-specific receptor (sprot)

description: An advanced glycosylation end product-specific receptor that is encoded in the genome of human.


osteochondritis dissecans

description: A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.


L-tyrosinamide

An amino acid amide that is L-tyrosine in which the carboxy OH group is replaced by NH2.


name: mesial temporal lobe epilepsy with hippocampal sclerosis

description: Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.


Unilateral cryptorchidism

description: Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


name: PAGR1_HUMAN PAXIP1-associated glutamate-rich protein 1 (sprot)

description: A PAXIP1-associated glutamate-rich protein 1 that is encoded in the genome of human.


name: LANC1_HUMAN Glutathione S-transferase LANCL1 (sprot)

description: A glutathione S-transferase LANCL1 that is encoded in the genome of human.


Short thumb

description: Hypoplasia (congenital reduction in size) of the thumb.


MEXILETINE HYDROCHLORIDE

A hydrochloride composed of equimolar amounts of mexiletine and hydrogen chloride.


name: idiopathic chronic eosinophilic pneumonia

description: A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).


vitelliform macular dystrophy 2

description: Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.


name: TBB2B_HUMAN Tubulin beta-2B chain (sprot)

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


name: atrial septal defect, ostium primum type

description: Atrioventricular septal defect with communication at the atrial level only.


name: BORG1_HUMAN Cdc42 effector protein 2 (sprot)

description: A Cdc42 effector protein 2 that is encoded in the genome of human.


Micrognathia

description: Developmental hypoplasia of the mandible.


fosmidomycin

Propylphosphonic acid in which one of the hydrogens at position 3 is substituted by a formyl(hydroxy)amino group. An antibiotic obtained from Streptomyces lavendulae, it specifically inhibits DXP reductoisomerase (EC 1.1.1.267), a key enzyme in the non-mevalonate pathway of isoprenoid biosynthesis.


name: KHDR2_HUMAN KH domain-containing, RNA-binding, signal transduction-associated protein 2 (sprot)

description: A KH domain-containing, RNA-binding, signal transduction-associated protein 2 that is encoded in the genome of human.


name: GALT9_HUMAN Polypeptide N-acetylgalactosaminyltransferase 9 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 9 that is encoded in the genome of human.


name: ZFAN5_HUMAN AN1-type zinc finger protein 5 (sprot)

description: An AN1-type zinc finger protein 5 that is encoded in the genome of human.


name: PAX1_HUMAN Paired box protein Pax-1 (sprot)

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


name: IGJ_HUMAN Immunoglobulin J chain (sprot)

description: An immunoglobulin J chain that is encoded in the genome of human.


name: C1QT7_HUMAN Complement C1q tumor necrosis factor-related protein 7 (sprot)

description: A complement C1q tumor necrosis factor-related protein 7 that is encoded in the genome of human.


muconic acid

A hexadienedioic acid with unsaturation at positions 2 and 4.


name: P3H1_HUMAN Prolyl 3-hydroxylase 1 (sprot)

description: A prolyl 3-hydroxylase 1 that is encoded in the genome of human.


name: DPH2_HUMAN 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 (sprot)

description: A 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 that is encoded in the genome of human.


EXT2_HUMAN Exostosin-2 (sprot)

An exostosin-2 that is encoded in the genome of human.


name: PPIE_HUMAN Peptidyl-prolyl cis-trans isomerase E (sprot)

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


name: NTCP7_HUMAN Sodium/bile acid cotransporter 7 (sprot)

description: A sodium/bile acid cotransporter 7 that is encoded in the genome of human.


name: MED18_HUMAN Mediator of RNA polymerase II transcription subunit 18 (sprot)

description: A mediator of RNA polymerase II transcription subunit 18 that is encoded in the genome of human.


composite lymphoma

description: Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.


CYCLOHEXENE

A cycloalkene that is cylohexane with a single double bond.


name: ATD2B_HUMAN ATPase family AAA domain-containing protein 2B (sprot)

description: An ATPase family AAA domain-containing protein 2B that is encoded in the genome of human.


Mobitz type II atrioventricular block

description: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)


perfluorobutyric acid

A monocarboxylic acid that is perfluorinated butyric acid.


name: CMTR1_HUMAN Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 (sprot)

description: A cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 that is encoded in the genome of human.


name: RAB7L_HUMAN Ras-related protein Rab-7L1 (sprot)

description: A Ras-related protein Rab-7L1 that is encoded in the genome of human.


name: ULA1_HUMAN NEDD8-activating enzyme E1 regulatory subunit (sprot)

description: A NEDD8-activating enzyme E1 regulatory subunit that is encoded in the genome of human.


name: FOXR2_HUMAN Forkhead box protein R2 (sprot)

description: A forkhead box protein R2 that is encoded in the genome of human.


Alzheimer disease 3

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.


burning mouth syndrome

description: A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.


cryopyrin-associated periodic syndrome

description: Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).


name: CBR4_HUMAN 3-oxoacyl-[acyl-carrier-protein] reductase (sprot)

description: A 3-oxoacyl-[acyl-carrier-protein] reductase that is encoded in the genome of human.


EPGN_HUMAN Epigen (sprot)

An epigen that is encoded in the genome of human.


name: PCID2_HUMAN PCI domain-containing protein 2 (sprot)

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


name: TOM5_HUMAN Mitochondrial import receptor subunit TOM5 homolog (sprot)

description: A mitochondrial import receptor subunit TOM5 that is encoded in the genome of human.


name: CABP2_HUMAN Calcium-binding protein 2 (sprot)

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


name: PDGFC_HUMAN Platelet-derived growth factor C (sprot)

description: A platelet-derived growth factor C that is encoded in the genome of human.


DB110_HUMAN Beta-defensin 110 (sprot)

A beta-defensin 110 that is encoded in the genome of human.


name: GLP3L_HUMAN Golgi phosphoprotein 3-like (sprot)

description: A Golgi phosphoprotein 3-like that is encoded in the genome of human.


high altitude pulmonary edema

description: A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.


name: THSD1_HUMAN Thrombospondin type-1 domain-containing protein 1 (sprot)

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


name: CBLC_HUMAN E3 ubiquitin-protein ligase CBL-C (sprot)

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


name: MICB_HUMAN MHC class I polypeptide-related sequence B (sprot)

description: An MHC class I polypeptide-related sequence B that is encoded in the genome of human.


name: VMO1_HUMAN Vitelline membrane outer layer protein 1 homolog (sprot)

description: A vitelline membrane outer layer protein 1 that is encoded in the genome of human.


FBLN7_HUMAN Fibulin-7 (sprot)

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


Sebaceous hyperplasia

description: A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.


enhanced S-cone syndrome

description: An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.


name: ALG12_HUMAN Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (sprot)

description: A dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase that is encoded in the genome of human.


5,6-epoxyretinoic acid

A retinoid obtained by epoxidation across the 5,6-double bond of retinoic acid.


name: IN35_HUMAN Interferon-induced 35 kDa protein (sprot)

description: An interferon-induced 35 kDa protein that is encoded in the genome of human.


microsporidiosis

description: A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.


name: GGT6_HUMAN Glutathione hydrolase 6 (sprot)

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


endometrium neoplasm

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


Oral ulcer

description: Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.


CST8_HUMAN Cystatin-8 (sprot)

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


autoimmune urticaria

description: An autoimmune form of urticaria (disease).


VEZA_HUMAN Vezatin (sprot)

A vezatin that is encoded in the genome of human.


SHRM2_HUMAN Protein Shroom2 (sprot)

A protein Shroom2 that is encoded in the genome of human.


name: CDYL2_HUMAN Chromodomain Y-like protein 2 (sprot)

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


name: CDYL_HUMAN Chromodomain Y-like protein (sprot)

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


teratoma with malignant transformation

description: A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.


periosteal osteogenic sarcoma

description: An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.


name: EIF3D_HUMAN Eukaryotic translation initiation factor 3 subunit D (sprot)

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


Dysmorphic hematuria

description: The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.


name: BICRA_HUMAN BRD4-interacting chromatin-remodeling complex-associated protein (sprot)

description: A BRD4-interacting chromatin-remodeling complex-associated protein that is encoded in the genome of human.


name: MP3B2_HUMAN Microtubule-associated proteins 1A/1B light chain 3 beta 2 (sprot)

description: A microtubule-associated proteins 1A/1B light chain 3 beta 2 that is encoded in the genome of human.


name: TPGS2_HUMAN Tubulin polyglutamylase complex subunit 2 (sprot)

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


skull base meningioma

description: A meningioma that arises from the skull base.


An organobromine compound that consists of pentanedinitrile bearing bromo and bromomethyl substituents at position 2.


panic disorder with agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.


colon lymphoma

description: An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.


name: DC1L1_HUMAN Cytoplasmic dynein 1 light intermediate chain 1 (sprot)

description: A cytoplasmic dynein 1 light intermediate chain 1 that is encoded in the genome of human.


name: SCUB1_HUMAN Signal peptide, CUB and EGF-like domain-containing protein 1 (sprot)

description: A signal peptide, CUB and EGF-like domain-containing protein 1 that is encoded in the genome of human.


name: ENDD1_HUMAN Endonuclease domain-containing 1 protein (sprot)

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


dodecanedioic acid

An alpha,omega-dicarboxylic acid that is dodecane in which the methyl groups have been oxidised to the corresponding carboxylic acids.


ACETYLGLUTAMIC ACID

An N-acyl-L-amino acid that is L-glutamic acid in which one of the amine hydrogens is substituted by an acetyl group.


NUCB1_HUMAN Nucleobindin-1 (sprot)

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


substance dependence

description: The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.


SPEE_HUMAN Spermidine synthase (sprot)

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


post-traumatic epilepsy

description: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)


name: IASPP_HUMAN RelA-associated inhibitor (sprot)

description: A RelA-associated inhibitor that is encoded in the genome of human.


name: RHOV_HUMAN Rho-related GTP-binding protein RhoV (sprot)

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


night blindness

description: Inability to see clearly in dim light.


name: ISY1_HUMAN Pre-mRNA-splicing factor ISY1 homolog (sprot)

description: A pre-mRNA-splicing factor ISY1 that is encoded in the genome of human.


name: PCDGK_HUMAN Protocadherin gamma-C3 (sprot)

description: A protocadherin gamma-C3 that is encoded in the genome of human.


name: PYGB_HUMAN Glycogen phosphorylase, brain form (sprot)

description: A glycogen phosphorylase, brain form that is encoded in the genome of human.


name: SPT20_HUMAN Spermatogenesis-associated protein 20 (sprot)

description: A spermatogenesis-associated protein 20 that is encoded in the genome of human.


name: GCNA_HUMAN Germ cell nuclear acidic protein (sprot)

description: A germ cell nuclear acidic protein that is encoded in the genome of human.


name: LRC4B_HUMAN Leucine-rich repeat-containing protein 4B (sprot)

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


Noncompaction cardiomyopathy

description: A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.


TEKT1_HUMAN Tektin-1 (sprot)

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


name: UBP34_HUMAN Ubiquitin carboxyl-terminal hydrolase 34 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 34 that is encoded in the genome of human.


Wolff-Parkinson-White syndrome

description: A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.


name: MOD5_HUMAN tRNA dimethylallyltransferase (sprot)

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


name: C2C4B_HUMAN C2 calcium-dependent domain-containing protein 4B (sprot)

description: A C2 calcium-dependent domain-containing protein 4B that is encoded in the genome of human.


name: LMO7_HUMAN LIM domain only protein 7 (sprot)

description: A LIM domain only protein 7 that is encoded in the genome of human.


A member of the class of  chalcones that is trans-chalcone substituted by a hydroxy group at position 4'.


paranoid personality disorder

description: A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.


craniofacial dystonia

description: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.


palsy

description: A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)


name: TM223_HUMAN Transmembrane protein 223 (sprot)

description: A transmembrane protein 223 that is encoded in the genome of human.


name: PRI2_HUMAN DNA primase large subunit (sprot)

description: A DNA primase large subunit that is encoded in the genome of human.


congenital myasthenic syndrome

description: Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.


A secondary nitroalkane that is propane in which a hydrogen at position 2 has been replaced by a nitro group. Mainly used as a solvent (b.p. 120degreeC).


name: TMM17_HUMAN Transmembrane protein 17 (sprot)

description: A transmembrane protein 17 that is encoded in the genome of human.


name: ZNT10_HUMAN Calcium/manganese antiporter SLC30A10 (sprot)

description: A calcium/manganese antiporter SLC30A10 that is encoded in the genome of human.


virginiamycin

A mixture of cyclic polypeptide streptogramin antibiotics produced by Streptomyces virginiae, S. loidensis, S. mitakaensis, S. pristina-spiralis, S. ostreogriseus, and others. The two major components are virginiamycin M1 (also known as  pristinamycin IIA) and virginiamycin S1. Virginiamycin has been widely used as a growth promotion agent in livestock and has been to have bacteriostatic activity against Gram-positive organisms such as staphylococci and streptococci.


name: KCD11_HUMAN BTB/POZ domain-containing protein KCTD11 (sprot)

description: A BTB/POZ domain-containing protein KCTD11 that is encoded in the genome of human.


benign metastasizing leiomyoma

description: A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.


name: S17A9_HUMAN Voltage-gated purine nucleotide uniporter SLC17A9 (sprot)

description: A voltage-gated purine nucleotide uniporter SLC17A9 that is encoded in the genome of human.


hypercalcemia, infantile

description: A hypercalcemia disease that occurs between 28 days to one year of life.


name: TAF7_HUMAN Transcription initiation factor TFIID subunit 7 (sprot)

description: A transcription initiation factor TFIID subunit 7 that is encoded in the genome of human.


A member of the class of coumarins that is coumarin in which the hydrogen at position 6 is replaced by a methyl group.


SEPT1_HUMAN Septin-1 (sprot)

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


Kabuki syndrome

description: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.


name: NUDT7_HUMAN Peroxisomal coenzyme A diphosphatase NUDT7 (sprot)

description: A peroxisomal coenzyme A diphosphatase NUDT7 that is encoded in the genome of human.


name: TMT1A_HUMAN Thiol S-methyltransferase TMT1A (sprot)

description: A thiol S-methyltransferase TMT1A that is encoded in the genome of human.


SNX20_HUMAN Sorting nexin-20 (sprot)

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


perflunafene

A fluorocarbon that is decalin in which every hydrogen is replaced by fluorine. Capable of dissolving large quantities of oxygen, it has been used as the basis of an artificial blood substitute.


name: GCP6_HUMAN Gamma-tubulin complex component 6 (sprot)

description: A gamma-tubulin complex component 6 that is encoded in the genome of human.


ocular hypotension

description: Abnormally low intraocular pressure often related to chronic inflammation (uveitis).


A hydroxycoumarin that is coumarin in which the hydrogen at position 4 is replaced by a hydroxy group.


name: TVB2_HUMAN T cell receptor beta variable 2 (sprot)

description: A protein that is a translation product of the TRBV2 gene in human.


name: colon mucosa-associated lymphoid tissue lymphoma

description: An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.


Myocardial steatosis

description: Steatosis in the myocardium.


vaniprevir

An azamacrocyclic compound that is a hepatitis C virus (HCV) NS3/4A protease inhibitor which is approved for the treatment of hepatitis C virus infections in Japan.


name: BMP8A_HUMAN Bone morphogenetic protein 8A (sprot)

description: A bone morphogenetic protein 8A that is encoded in the genome of human.


CAH7_HUMAN Carbonic anhydrase 7 (sprot)

A carbonic anhydrase 7 that is encoded in the genome of human.


name: WDFY1_HUMAN WD repeat and FYVE domain-containing protein 1 (sprot)

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


name: CA2D2_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-2 (sprot)

description: A voltage-dependent calcium channel subunit alpha-2/delta-2 that is encoded in the genome of human.


name: UEVLD_HUMAN Ubiquitin-conjugating enzyme E2 variant 3 (sprot)

description: A ubiquitin-conjugating enzyme E2 variant 3 that is encoded in the genome of human.


gastric leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.