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


idiopathic torsion dystonia

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

description: Torsion dystonia for which no underlying cause has been identified.


amyloidosis cutis dyschromia

description: Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.


name: HIRP3_HUMAN HIRA-interacting protein 3 (sprot)

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


name: ACOT4_HUMAN Peroxisomal succinyl-coenzyme A thioesterase (sprot)

description: A peroxisomal succinyl-coenzyme A thioesterase that is encoded in the genome of human.


name: DUS2L_HUMAN tRNA-dihydrouridine(20) synthase [NAD(P)+]-like (sprot)

description: A tRNA-dihydrouridine synthase 2-like that is encoded in the genome of human.


name: PTPRS_HUMAN Receptor-type tyrosine-protein phosphatase S (sprot)

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


pyrrolnitrin

A member of the class of pyrroles carrying chloro and 3-chloro-2-nitrophenyl substituents at positions 3 and 4 respectively.


name: D39U1_HUMAN Epimerase family protein SDR39U1 (sprot)

description: An epimerase family protein SDR39U1 that is encoded in the genome of human.


DICYCLOMINE HYDROCHLORIDE

The hydrochloride salt of dicyclomine. An anticholinergic, it is used to treat or prevent spasm in the muscles of the gastrointestinal tract, particularly that associated with irritable bowel syndrome.


name: FA20C_HUMAN Extracellular serine/threonine protein kinase FAM20C (sprot)

description: An extracellular serine/threonine protein kinase Fam20C that is encoded in the genome of human.


name: BTBDI_HUMAN BTB/POZ domain-containing protein 18 (sprot)

description: A BTB/POZ domain-containing protein 18 that is encoded in the genome of human.


ulcerative stomatitis

description: Inflammation of the mouth mucosa associated with the presence of ulcers.


Retinal coloboma

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

description: A notch or cleft of the retina.


S-sulfo-L-cysteine

An S-substituted L-cysteine where the S-substituent is specified as a sulfo group.


CONIVAPTAN HYDROCHLORIDE

The hydrochloride salt of conivaptan. It is an antagonist for two of the three types of arginine vasopressin (AVP) receptors, V1a and V2, and is used for the treatment of hyponatraemia (low blood sodium levels) caused by syndrome of inappropriate antidiuretic hormone (SIADH).


name: hypertrichosis-acromegaloid facial appearance syndrome

description: Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.


name: KCNG4_HUMAN Potassium voltage-gated channel subfamily G member 4 (sprot)

description: A voltage-gated potassium channel subfamily G member 4 that is encoded in the genome of human.


name: GARE2_HUMAN GRB2-associated and regulator of MAPK protein 2 (sprot)

description: A GRB2-associated and regulator of MAPK protein 2 that is encoded in the genome of human.


diethyl phosphonate

A phosphonic ester that is the diethyl ester of phosphonic acid.


neuronal ceroid lipofuscinosis 1

description: A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


name: PACE1_HUMAN Protein-associating with the carboxyl-terminal domain of ezrin (sprot)

description: A protein-associating with the carboxyl-terminal domain of ezrin that is encoded in the genome of human.


Salmonella osteomyelitis

description: Osteomyelitis caused by infection with the bacteria, salmonella.


name: IF1AX_HUMAN Eukaryotic translation initiation factor 1A, X-chromosomal (sprot)

description: A eukaryotic translation initiation factor 1A, X-chromosomal that is encoded in the genome of human.


A member of the class of pyrrolines that is 1-pyrroline in which the two hydrogens at position 5 are replaced by methyl groups.


name: Trichomonas vaginitis urogenital infection

description: A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.


endolymphatic sac tumor

description: An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.


JPH4_HUMAN Junctophilin-4 (sprot)

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


glottis carcinoma

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


name: BROX_HUMAN BRO1 domain-containing protein BROX (sprot)

description: A BRO1 domain-containing protein BROX that is encoded in the genome of human.


name: B3GN3_HUMAN N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 (sprot)

description: An N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 that is encoded in the genome of human.


An organic heterobicyclic compound based on a fused 1,2-thiazole and benzene bicyclic ring skeleton, with the S atom positioned adjacent to one of the positions of ring fusion.


clopenthixol

A thioxanthene derivative having a chloro substituent at the 2-position and an alkylidene group at the 10-position with undefined double bond stereochemistry.


name: S1PBP_HUMAN S100P-binding protein (sprot)

description: An S100P-binding protein that is encoded in the genome of human.


name: DQB1_HUMAN HLA class II histocompatibility antigen, DQ beta 1 chain (sprot)

description: An MHC class II histocompatibility antigen beta chain DQB1 that is encoded in the genome of human.


hand-foot-genital syndrome

description: Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.


panophthalmitis

description: Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.


diffuse astrocytoma

description: A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.


name: FJX1_HUMAN Four-jointed box protein 1 (sprot)

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


small intestine leiomyosarcoma

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


name: T4S4_HUMAN Transmembrane 4 L6 family member 4 (sprot)

description: A transmembrane 4 L6 family member 4 that is encoded in the genome of human.


DCNL5_HUMAN DCN1-like protein 5 (sprot)

A DCN1-like protein 5 that is encoded in the genome of human.


name: RM33_HUMAN Large ribosomal subunit protein bL33m (sprot)

description: A large ribosomal subunit protein bL33m that is encoded in the genome of human.


name: EZHIP_HUMAN EZH inhibitory protein (sprot)

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


name: PDCD7_HUMAN Programmed cell death protein 7 (sprot)

description: A programmed cell death protein 7 that is encoded in the genome of human.


name: RHG30_HUMAN Rho GTPase-activating protein 30 (sprot)

description: A Rho GTPase-activating protein 30 that is encoded in the genome of human.


name: NXT2_HUMAN NTF2-related export protein 2 (sprot)

description: An NTF2-related export protein 2 that is encoded in the genome of human.


name: HARS1_HUMAN Histidine--tRNA ligase, cytoplasmic (sprot)

description: A histidyl-tRNA synthetase, cytoplasmic that is encoded in the genome of human.


name: AP1S3_HUMAN AP-1 complex subunit sigma-3 (sprot)

description: An AP-1 complex subunit sigma-3 that is encoded in the genome of human.


HEXI2_HUMAN Protein HEXIM2 (sprot)

A protein HEXIM2 that is encoded in the genome of human.


Failure to thrive

description: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


STMN4_HUMAN Stathmin-4 (sprot)

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


ACTY_HUMAN Beta-centractin (sprot)

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


name: TJA3_HUMAN T cell receptor alpha joining 3 (sprot)

description: A protein that is a translation product of the TRAJ3 gene in human.


name: leukoencephalopathy, diffuse hereditary, with spheroids 1

description: A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.


name: FBX16_HUMAN F-box only protein 16 (sprot)

description: An F-box only protein 16 that is encoded in the genome of human.


tracheitis

description: A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.


neurosyphilis

description: Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.


name: CTSR3_HUMAN Cation channel sperm-associated protein 3 (sprot)

description: A cation channel sperm-associated protein 3 that is encoded in the genome of human.


name: CTSR4_HUMAN Cation channel sperm-associated protein 4 (sprot)

description: A cation channel sperm-associated protein 4 that is encoded in the genome of human.


name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

description: A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.


name: hypothyroidism due to iodide transport defect

description: A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.


N-acetyl-alpha-neuraminic acid

N-Acetylneuraminic acid with alpha configuration at the anomeric centre.


name: HEM3_HUMAN Porphobilinogen deaminase (sprot)

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


A 7,8-dihydrobiopterin in which the 1,2-dihydroxypropyl group has (1R,2S)-configuration; naturally occurring form.


glycine N-methyltransferase deficiency

description: Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.


fungal esophagitis

description: Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.


Episodic paroxysmal anxiety

description: Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.


Decreased circulating cortisol level

description: Abnormally reduced concentration of cortisol in the blood.


monkeypox

description: An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.


name: CY561_HUMAN Transmembrane ascorbate-dependent reductase CYB561 (sprot)

description: A eukaryotic cytochrome b561 that is encoded in the genome of human.


description: Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.


The L-enantiomer of 4-iodophenylalanine.


name: M4K2_HUMAN Mitogen-activated protein kinase kinase kinase kinase 2 (sprot)

description: A mitogen-activated protein kinase kinase kinase kinase 2 that is encoded in the genome of human.


Hypertryptophanemia

description: An increased amount of tryptophan in the blood.


name: CCD42_HUMAN Coiled-coil domain-containing protein 42 (sprot)

description: A coiled-coil domain-containing protein 42 that is encoded in the genome of human.


N-nitrosopiperidine

A nitrosamine that is piperidine in which the hydrogen attached to the nitrogen is replaced by a nitroso group. One of the many carcinogens detected in cigarette smoke, it is found in meat, cheese and spices that have been treated with the preservative sodium nitrite.


congenital velopharyngeal incompetence

description: Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.


name: RNF17_HUMAN RING finger protein 17 (sprot)

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


acromelic frontonasal dysostosis

description: Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.


Periostosis

description: Abnormal deposition of periosteal bone.


CEPHALOSPORIN C

A cephalosporin antibiotic carrying a 3-acetoxymethyl substituent and a 6-oxo-N(6)-L-lysino group at position 7.


uncombable hair syndrome

description: Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.


name: mitochondrial complex II deficiency, nuclear type 1

description: Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.


prednisolone succinate

A hemisuccinate resulting from the formal condensation of the 21-hydroxy group prednisolone with one of the carboxy groups of succinic acid. It is used to treat mild to moderate non-infectious eye allergies and inflammation, including damage caused by chemical and thermal burns.


name: EXC6B_HUMAN Exocyst complex component 6B (sprot)

description: An exocyst complex component 6B that is encoded in the genome of human.


name: EI2BE_HUMAN Translation initiation factor eIF2B subunit epsilon (sprot)

description: A translation initiation factor eIF2B subunit epsilon that is encoded in the genome of human.


name: ATL1_HUMAN ADAMTS-like protein 1 (sprot)

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


APOL4_HUMAN Apolipoprotein L4 (sprot)

An apolipoprotein L4 that is encoded in the genome of human.


name: SSF1_HUMAN Suppressor of SWI4 1 homolog (sprot)

description: A suppressor of SWI4 1 that is encoded in the genome of human.


subacute leukemia

description: A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.


name: KBTB2_HUMAN Kelch repeat and BTB domain-containing protein 2 (sprot)

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


name: GAR5A_HUMAN Golgi-associated RAB2 interactor protein 5A (sprot)

description: A Golgi-associated RAB2 interactor protein 5A that is encoded in the genome of human.


trichohepatoenteric syndrome

description: A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.


name: ZKSC4_HUMAN Zinc finger protein with KRAB and SCAN domains 4 (sprot)

description: A zinc finger protein with KRAB and SCAN domains 4 that is encoded in the genome of human.


neuromuscular junction disease

description: Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.


1-methyluric acid

An oxopurine that is 7,9-dihydro-1H-purine-2,6,8(3H)-trione substituted by a methyl group at N-1. It is one of the metabolites of caffeine found in human urine.


AP-4 deficiency syndrome

description: A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.


name: CENPT_HUMAN Centromere protein T (sprot)

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


bursitis

description: Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.


Alkhurma hemorrhagic fever

description: A disease caused by infection with Alkhumra hemorrhagic fever virus.


melorheostosis

description: Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.


name: RL27_HUMAN Large ribosomal subunit protein eL27 (sprot)

description: A large ribosomal subunit protein eL27 that is encoded in the genome of human.


name: ARK2C_HUMAN E3 ubiquitin-protein ligase ARK2C (sprot)

description: An E3 ubiquitin-protein ligase ARK2C that is encoded in the genome of human.


name: RPR1A_HUMAN Regulation of nuclear pre-mRNA domain-containing protein 1A (sprot)

description: A regulation of nuclear pre-mRNA domain-containing protein 1A that is encoded in the genome of human.


Misophonia

description: Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors.


medulloepithelioma

description: A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.


GPN2_HUMAN GPN-loop GTPase 2 (sprot)

A GPN-loop GTPase 2 that is encoded in the genome of human.


name: CD123_HUMAN Translation initiation factor eIF2 assembly protein (sprot)

description: A cell division cycle protein 123 that is encoded in the genome of human.


name: RXLT1_HUMAN Ribitol-5-phosphate xylosyltransferase 1 (sprot)

description: A ribitol-5-phosphate xylosyltransferase 1 that is encoded in the genome of human.


P2Y14_HUMAN P2Y purinoceptor 14 (sprot)

A P2Y purinoceptor 14 that is encoded in the genome of human.


Secundum atrial septal defect

description: A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


name: CC152_HUMAN Coiled-coil domain-containing protein 152 (sprot)

description: A coiled-coil domain-containing protein 152 that is encoded in the genome of human.


hemochromatosis type 4

description: A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.


adult kidney Wilms tumor

description: Wilms tumor of the kidney which occurs in adults.


name: autism spectrum disorder due to AUTS2 deficiency

description: Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.


diphosphoric acid

An acyclic phosphorus acid anhydride obtained by condensation of two molecules of phosphoric acid.


familial hypocalciuric hypercalcemia 3

description: Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.


brain infarction

description: Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.


name: AMACR_HUMAN Alpha-methylacyl-CoA racemase (sprot)

description: An alpha-methylacyl-CoA racemase that is encoded in the genome of human.


NOGALAMYCIN

An anthracycline antibiotic isolated from Streptomyces nogalater. It is a DNA intercalator and exhibits anticancer properties.


ritalinic acid

A monocarboxylic acid that is phenylacetic acid substituted by a piperidin-2-yl group at position 2. It is a metabolite of the drug methylphenidate.


CIRSILENEOL

A trimethoxyflavone that is flavone substituted by methoxy groups at positions 6, 7 and 3' and hydroxy groups at positions 5 and 4' respectively.


Inappropriate sinus tachycardia

description: Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.


colistimethate sodium

A mixture where R = H or Me. Colistin in which each of the primary amino groups is converted to the corresponding aminomethanesulfonic acid sodium salt, commonly by the action of formaldehyde followed by sodium bisulfite. A polymyxin antibiotic derivative, it is used in the treatment of severe infections, particularly of multidrug-resistant Gram-negative bacteria such as Pseudomonas aeruginosa and Acinetobacter baumannii.


geranylgeraniol

A diterpenoid that is hexadeca-2,6,10,14-tetraene substituted by methyl groups at positions 3, 7, 11 and 15 and a hydroxy group at position 1.


name: B3GT1_HUMAN Beta-1,3-galactosyltransferase 1 (sprot)

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


acetoin

A methyl ketone that is butan-2-one substituted by a hydroxy group at position 3.


Vertebral fusion

description: A developmental defect leading to the union of two adjacent vertebrae.


ORIENTIN

A C-glycosyl compound that is luteolin substituted by a beta-D-glucopyranosyl moiety at position 8.


A monocarboxylic acid anion that is the conjugate base of 4-acetamidobutanoic acid, arising from deprotonation of the carboxy group.


3-M syndrome

description: 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.


scrapie

description: A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.


Floppy eyelid

description: Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.


name: RBPS2_HUMAN RNA-binding protein with multiple splicing 2 (sprot)

description: An RNA-binding protein with multiple splicing 2 that is encoded in the genome of human.


Renal potassium wasting

description: High urine potassium in the presence of hypokalemia.


name: CSDC2_HUMAN Cold shock domain-containing protein C2 (sprot)

description: A cold shock domain-containing protein C2 that is encoded in the genome of human.


name: HV353_HUMAN Immunoglobulin heavy variable 3-53 (sprot)

description: A protein that is a translation product of the IGHV3-53 gene in human.


name: bile acid CoA:amino acid N-acyltransferase deficiency

description: Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.


name: KAZD1_HUMAN Kazal-type serine protease inhibitor domain-containing protein 1 (sprot)

description: A Kazal-type serine protease inhibitor domain-containing protein 1 that is encoded in the genome of human.


type II mixed cryoglobulinemia

description: Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).


EDETATE DISODIUM ANHYDROUS

An organic sodium salt that is the anhydrous form of the disodium salt of ethylenediaminetetraacetic acid (EDTA).


Muenke syndrome

description: Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.


A phenylalkylamine that is benzene in which one of the hydrogens is substituted by a 3-aminopropyl group.


SNX24_HUMAN Sorting nexin-24 (sprot)

A sorting nexin-24 that is encoded in the genome of human.


name: C3AR_HUMAN C3a anaphylatoxin chemotactic receptor (sprot)

description: A C3a anaphylatoxin chemotactic receptor that is encoded in the genome of human.


name: K2C6C_HUMAN Keratin, type II cytoskeletal 6C (sprot)

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


name: primary cutaneous gamma-delta t-cell lymphoma

description: A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.


name: KAD2_HUMAN Adenylate kinase 2, mitochondrial (sprot)

description: An adenylate kinase 2, mitochondrial that is encoded in the genome of human.


name: SEN15_HUMAN tRNA-splicing endonuclease subunit Sen15 (sprot)

description: A tRNA-splicing endonuclease subunit Sen15 that is encoded in the genome of human.


name: SEN34_HUMAN tRNA-splicing endonuclease subunit Sen34 (sprot)

description: A tRNA-splicing endonuclease subunit Sen34 that is encoded in the genome of human.


name: MOT11_HUMAN Monocarboxylate transporter 11 (sprot)

description: A monocarboxylate transporter 11 that is encoded in the genome of human.


name: OSBL7_HUMAN Oxysterol-binding protein-related protein 7 (sprot)

description: An oxysterol-binding protein-related protein 7 that is encoded in the genome of human.


name: ISOC2_HUMAN Isochorismatase domain-containing protein 2 (sprot)

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


ribbing disease

description: Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.


name: PRIC3_HUMAN Prickle planar cell polarity protein 3 (sprot)

description: A prickle planar cell polarity protein 3 that is encoded in the genome of human.


name: CHD9_HUMAN Chromodomain-helicase-DNA-binding protein 9 (sprot)

description: A chromodomain-helicase-DNA-binding protein 9 that is encoded in the genome of human.


OTOSP_HUMAN Otospiralin (sprot)

An otospiralin that is encoded in the genome of human.


acute dacryoadenitis

description: Acute form of dacryoadenitis.


name: MMAB_HUMAN Corrinoid adenosyltransferase MMAB (sprot)

description: A corrinoid adenosyltransferase MMAB that is encoded in the genome of human.


name: RNF37_HUMAN RING finger protein 37 (sprot)

description: A RING finger protein 37 that is encoded in the genome of human.


name: FGFP2_HUMAN Fibroblast growth factor-binding protein 2 (sprot)

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


name: RM09_HUMAN Large ribosomal subunit protein bL9m (sprot)

description: A large ribosomal subunit protein bL9m that is encoded in the genome of human.


name: SIA10_HUMAN Type 2 lactosamine alpha-2,3-sialyltransferase (sprot)

description: A type 2 lactosamine alpha-2,3-sialyltransferase that is encoded in the genome of human.


THIOBARBITURIC

A barbiturate, the structure of which is that of barbituric acid in which the oxygen at C-2 is replaced by sulfur.


name: AN18A_HUMAN Ankyrin repeat domain-containing protein 18A (sprot)

description: An ankyrin repeat domain-containing protein 18A that is encoded in the genome of human.


name: INAM1_HUMAN Putative transmembrane protein INAFM1 (sprot)

description: A protein that is a translation product of the INAFM1 gene in human.


name: RNS10_HUMAN Inactive ribonuclease-like protein 10 (sprot)

description: A ribonuclease-like protein 10 that is encoded in the genome of human.


indole-5-carboxylic acid

An indolecarboxylic acid in which the carboxy group is the only substituent and is located at position 5.


malignant giant cell tumor

description: A malignant neoplasm characterized by then presence of atypical giant cells.


CYCLOPENTANONE

A cyclic ketone that consists of cyclopentane bearing a single oxo substituent.


2E-DECENOIC ACID

A 2-decenoic acid having its double bond in the trans configuration. It is an intermediate metabolite in the fatty acid synthesis.


name: TRUB2_HUMAN Pseudouridylate synthase TRUB2, mitochondrial (sprot)

description: A pseudouridylate synthase TRUB2, mitochondrial that is encoded in the genome of human.


name: RUSD3_HUMAN Mitochondrial mRNA pseudouridine synthase RPUSD3 (sprot)

description: A mitochondrial mRNA pseudouridine synthase RPUSD3 that is encoded in the genome of human.


name: BPIA2_HUMAN BPI fold-containing family A member 2 (sprot)

description: A BPI fold-containing family A member 2 that is encoded in the genome of human.


gelatinous drop-like corneal dystrophy

description: Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.


submandibular gland adenocarcinoma

description: An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.


RPTN_HUMAN Repetin (sprot)

A repetin that is encoded in the genome of human.


name: FHI2B_HUMAN FHF complex subunit HOOK-interacting protein 2B (sprot)

description: An FHF complex subunit HOOK-interacting protein 2B that is encoded in the genome of human.


FLECAINIDE ACETATE

An acetate salt obtained by combining flecainide with one molar equivalent of acetic acid. An antiarrhythmic agent used to prevent and treat tachyarrhythmia (abnormal fast rhythm of the heart).


cystathioninuria

description: Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.


name: PKHM3_HUMAN Pleckstrin homology domain-containing family M member 3 (sprot)

description: A pleckstrin homology domain-containing family M member 3 that is encoded in the genome of human.


arthrogryposis multiplex congenita

description: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.


name: QORL1_HUMAN Quinone oxidoreductase-like protein 1 (sprot)

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


name: skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


diisononyl phthalate

The diisononyl ester of benzene-1,2-dicarboxylic acid.


Hemiretinal vein occlusion

description: A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.


name: progressive supranuclear palsy-corticobasal syndrome

description: PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


headache disorder

description: Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)


sulfametrole

A sulfonamide obtained by formal condensation of the sulfo group of 4-aminobenzenesulfonic acid with the amino group of 4-methoxy-1,2,5-thiadiazol-3-amine.


name: S61A2_HUMAN Protein transport protein Sec61 subunit alpha isoform 2 (sprot)

description: A protein transport protein Sec61 subunit alpha isoform 2 that is encoded in the genome of human.


SYNE4_HUMAN Nesprin-4 (sprot)

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


Radial dysplasia

description: Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.


name: GFRA3_HUMAN GDNF family receptor alpha-3 (sprot)

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


name: PPTC7_HUMAN Protein phosphatase PTC7 homolog (sprot)

description: A protein phosphatase PTC7 that is encoded in the genome of human.


colon mucinous adenocarcinoma

description: An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.


2-arachidonyl glyceryl ether

A monoalkylglycerol that is glycerol which is substituted by a (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraen-1-yl group at position 2.


EST5A_HUMAN Carboxylesterase 5A (sprot)

A carboxylesterase 5A that is encoded in the genome of human.


intrahepatic cholestasis of pregnancy

description: A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.


Coronal craniosynostosis

description: Premature closure of the coronal suture of skull.


name: CXG3_HUMAN Gap junction gamma-3 protein (sprot)

description: A gap junction gamma-3 protein that is encoded in the genome of human.


Eyelid myokymia

description: Involuntary, fine, continuous, undulating contractions of the eyelid.


dendritic cell tumor

description: A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). The symptoms and severity of the condition depend on the subtype and location of the tumor.


juvenile spondyloarthropathy

description: A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.


Ehlers-Danlos syndrome, vascular type

description: Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.


methylselenenic acid

An organoselenium compound comprising a methyl and hydroxy group covalently bound to a selenium atom.


name: TZAP_HUMAN Telomere zinc finger-associated protein (sprot)

description: A telomere zinc finger-associated protein that is encoded in the genome of human.


brassinazole

A member of the class of triazoles that is butan-2-ol which is substituted at positions 2, 3, and 4 by phenyl, 1H-1,2,4-triazol-1-yl and p-chlorophenyl groups, respectively. An inhibitor of brassinosteroid biosynthesis.


MYOM1_HUMAN Myomesin-1 (sprot)

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


grade II meningioma

description: An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.


naphthalene-2-sulfonic acid

A naphthalenesulfonic acid in which the sulfo group is linked to position 2 of the naphthalene ring.


UBN1_HUMAN Ubinuclein-1 (sprot)

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


GLPK2_HUMAN Glycerol kinase 2 (sprot)

A glycerol kinase 2 that is encoded in the genome of human.


cis-cinnamic acid

The Z (cis) isomer of cinnamic acid


name: PACRG_HUMAN Parkin coregulated gene protein (sprot)

description: A parkin coregulated gene protein that is encoded in the genome of human.


anhidrosis

description: Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.


name: B3GT5_HUMAN Beta-1,3-galactosyltransferase 5 (sprot)

description: A beta-1,3-galactosyltransferase 5 that is encoded in the genome of human.


name: RT07_HUMAN Small ribosomal subunit protein uS7m (sprot)

description: A small ribosomal subunit protein uS7m that is encoded in the genome of human.


LIAT1_HUMAN Protein LIAT1 (sprot)

A protein that is a translation product of the LIAT1 gene in human.


gastric adenosquamous carcinoma

description: A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.


name: EIF3M_HUMAN Eukaryotic translation initiation factor 3 subunit M (sprot)

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


cis-2-decenoic acid

A 2-decenoic acid having its double bond in the cis configuration.


name: LRC24_HUMAN Leucine-rich repeat-containing protein 24 (sprot)

description: A leucine-rich repeat-containing protein 24 that is encoded in the genome of human.


Hypophoria

description: A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.


endolymphatic hydrops

description: An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.


name: TPC2L_HUMAN Trafficking protein particle complex subunit 2-like protein (sprot)

description: A trafficking protein particle complex subunit 2-like protein that is encoded in the genome of human.


name: PCDG3_HUMAN Protocadherin gamma-A3 (sprot)

description: A protocadherin gamma-A3 that is encoded in the genome of human.


name: PCDG6_HUMAN Protocadherin gamma-A6 (sprot)

description: A protocadherin gamma-A6 that is encoded in the genome of human.


mevalonate

A racemate composed of equimolar amounts of (R)- and (S)-mevalonate.


name: ACAP3_HUMAN Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 (sprot)

description: An Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 that is encoded in the genome of human.


STRYCHNINE HYDROCHLORIDE

A hydrochloride obtained by combining strychnine with one molar equivalent of hydrogen chloride.


name: ASPH2_HUMAN Aspartate beta-hydroxylase domain-containing protein 2 (sprot)

description: An aspartate beta-hydroxylase domain-containing protein 2 that is encoded in the genome of human.


Narrow mouth

description: Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).


name: MTMR4_HUMAN Myotubularin-related protein 4 (sprot)

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


pseudohermaphroditism

description: A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.


name: RNF25_HUMAN E3 ubiquitin-protein ligase RNF25 (sprot)

description: An E3 ubiquitin-protein ligase RNF25 that is encoded in the genome of human.


name: FIZ1_HUMAN Flt3-interacting zinc finger protein 1 (sprot)

description: An Flt3-interacting zinc finger protein 1 that is encoded in the genome of human.


West Nile fever

description: A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)


toxemia of pregnancy

description: A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.


name: WIPI3_HUMAN WD repeat domain phosphoinositide-interacting protein 3 (sprot)

description: A WD repeat domain phosphoinositide-interacting protein 3 that is encoded in the genome of human.


flutemetamol

A member of the class of benzothiazoles that is 1,3-benzothiazole substituted by 3-((18)F)fluoro-4-(methylamino)phenyl and hydroxy groups at positions 3 and 6 respectively. A positron emission tomography imaging ligand for the detection of amyloid aggregation associated with Alzheimer disease.


name: RTCA_HUMAN RNA 3'-terminal phosphate cyclase (sprot)

description: An RNA 3'-terminal phosphate cyclase that is encoded in the genome of human.


name: RL35A_HUMAN Large ribosomal subunit protein eL33 (sprot)

description: A large ribosomal subunit protein eL33 that is encoded in the genome of human.


Periocular capillary hemangioma

description: A capillary hemangioma surrounding the eyeball but within the orbit.


renovascular hypertension

description: High blood pressure secondary to renal artery stenosis.


name: HMGN4_HUMAN High mobility group nucleosome-binding domain-containing protein 4 (sprot)

description: A high mobility group nucleosome-binding domain-containing protein 4 that is encoded in the genome of human.


Lhermitte-Duclos disease

description: Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.


bile duct neoplasm

description: A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.


conduritol

A tetrol that is cyclohexene in which a hydrogen attached to each of the carbons at positions 3, 4, 5, and 6 is replaced by a hydroxy group. The group consists of six possible diastereoisomers, known as conduritols A to F, some of which can exist as two distinct enantiomers.


pleuropulmonary blastoma

description: A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.


myotonic dystrophy type 2

description: Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.


maternally-inherited Leigh syndrome

description: Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


name: autosomal recessive spondylocostal dysostosis

description: Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


name: RADIL_HUMAN Ras-associating and dilute domain-containing protein (sprot)

description: A Ras-associating and dilute domain-containing protein that is encoded in the genome of human.


maltotetraose

A maltotetraose tetrasaccharide in which the glucose residue at the reducing end is in the aldehydo open-chain form.


name: GLCNE_HUMAN Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (sprot)

description: A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase that is encoded in the genome of human.


Recurrent bacterial meningitis

description: An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.


potassium bitartrate

An organic potassium salt of L-tartaric acid. It is a by-product of winemaking and occurs naturally in grapes, the major fruit used to produce wine.


CTRB1_HUMAN Chymotrypsinogen B (sprot)

A chymotrypsinogen B that is encoded in the genome of human.


name: TLC3A_HUMAN TLC domain-containing protein 3A (sprot)

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


Hypoplastic anemia

description: Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.


name: PCBP3_HUMAN Poly(rC)-binding protein 3 (sprot)

description: A poly(rC)-binding protein 3 that is encoded in the genome of human.


X-linked lymphoproliferative syndrome

description: X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).


name: NEUL3_HUMAN E3 ubiquitin-protein ligase NEURL3 (sprot)

description: An E3 ubiquitin-protein ligase NEURL3 that is encoded in the genome of human.


Asherman syndrome

description: Adhesions or scar tissue that form inside the cavity of the uterus.


lumbar disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the lumbar spine.


name: AHSP_HUMAN Alpha-hemoglobin-stabilizing protein (sprot)

description: An alpha-hemoglobin-stabilizing protein that is encoded in the genome of human.


methylurea

A member of the class of ureas that is urea substituted by a methyl group at one of the nitrogen atoms.


AFZELIN

A glycosyloxyflavone that is kaempferol attached to an alpha-L-rhamnosyl residue at position 3 via a glycosidic linkage.


brompheniramine

Pheniramine in which the hydrogen at position 4 of the phenyl substituent is substituted by bromine. A histamine H1 receptor antagonist, brompheniramine is used (commonly as its maleate salt) for the symptomatic relief of allergic conditions, including rhinitis and conjunctivitis.


atrial flutter

description: A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)


name: TYW2_HUMAN tRNA wybutosine-synthesizing protein 2 homolog (sprot)

description: A tRNA wybutosine-synthesizing protein 2 that is encoded in the genome of human.


A 5'-deoxyribonucleoside compound having adenosine as the nucleobase.


multifocal dystonia

description: A dystonia that involves two or more unrelated body parts.


name: UBE2U_HUMAN Ubiquitin-conjugating enzyme E2 U (sprot)

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


prostate rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.


CHLORIMURON ETHYL

An ethyl ester resulting from the formal condensation of the carboxy group of chlorimuron with ethanol. A proherbicide for chloimuron, it is used as herbicide for the control of broad-leaved weeds in peanuts, soya beans, and other crops.


inflammatory bowel disease 28

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.


lip neoplasm

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


name: ZN675_HUMAN Zinc finger protein 675 (sprot)

description: A zinc finger protein 675 that is encoded in the genome of human.


carcinoid crisis

description: A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.


name: PIGQ_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit Q that is encoded in the genome of human.


name: PNPO_HUMAN Pyridoxine-5'-phosphate oxidase (sprot)

description: A pyridoxine-5'-phosphate oxidase that is encoded in the genome of human.


pycnodysostosis

description: Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.


name: KAD3_HUMAN GTP:AMP phosphotransferase AK3, mitochondrial (sprot)

description: A GTP:AMP phosphotransferase, mitochondrial that is encoded in the genome of human.


canine lung adenocarcinoma

description: A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.


name: 3,5-Dimethyl-1-(3-nitrophenyl)-1H-pyrazole-4-carboxylic acid ethyl ester


PPDA

A racemate comprising equimolar amounts of (2R,3S)- and (2S,3R)-PPDA. It is a subtype-selective NMDA receptor antagonist that preferentially binds to GluN2C/GluN2D (formally NR2C/NR2D) containing receptors.


Cogan-Reese syndrome

description: Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.


name: double uterus-hemivagina-renal agenesis syndrome

description: Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.


parturient paresis

description: A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.


depudecin

A polyketide obtained from the fungus Alternaria brassicicola and having a highly unusual structure of an 11-carbon chain containing two epoxides and six stereogenic centres.  It is an inhibitor of histone deacetylase (HDAC) both in vivo and in vitro and also exhibits anti-angiogenic activity.


name: LIN7B_HUMAN Protein lin-7 homolog B (sprot)

description: A protein lin-7 homolog B that is encoded in the genome of human.


CARVONE

A p-menthane monoterpenoid that consists of cyclohex-2-enone having methyl and isopropenyl substituents at positions 2 and 5, respectively.


IFN14_HUMAN Interferon alpha-14 (sprot)

An interferon alpha-14 that is encoded in the genome of human.


name: VCY2_HUMAN Testis-specific basic protein Y 2 (sprot)

description: A testis-specific basic protein Y 2 that is encoded in the genome of human.


name: TM203_HUMAN Transmembrane protein 203 (sprot)

description: A transmembrane protein 203 that is encoded in the genome of human.


hydrocortisone phosphate

A steroid phosphate that is the 21-O-phospho derivative of cortisol.


name: PPOX_HUMAN Protoporphyrinogen oxidase (sprot)

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


name: neurodegeneration with brain iron accumulation 5

description: Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.


Weaver syndrome

description: Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.


Ring scotoma

description: An annular field defect centered on fixation.


Glanzmann thrombasthenia 1

description: A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia


name: DYH1_HUMAN Dynein axonemal heavy chain 1 (sprot)

description: A dynein axonemal heavy chain 1 that is encoded in the genome of human.


Abnormal renal morphology

description: Any structural anomaly of the kidney.


name: FBX24_HUMAN F-box only protein 24 (sprot)

description: An F-box only protein 24 that is encoded in the genome of human.


name: IN80C_HUMAN INO80 complex subunit C (sprot)

description: An INO80 complex subunit C that is encoded in the genome of human.


name: BRSK1_HUMAN Serine/threonine-protein kinase BRSK1 (sprot)

description: A serine/threonine-protein kinase BRSK1 that is encoded in the genome of human.


name: SSMM1_HUMAN Serine-rich single-pass membrane protein 1 (sprot)

description: A protein that is a translation product of the SSMEM1 gene in human.


cortisone reductase deficiency 1

description: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.


name: MBD6_HUMAN Methyl-CpG-binding domain protein 6 (sprot)

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


CYH4_HUMAN Cytohesin-4 (sprot)

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


name: TBD2A_HUMAN TBC1 domain family member 2A (sprot)

description: A TBC1 domain family member 2A that is encoded in the genome of human.


ovarian benign neoplasm

description: A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.


name: PGCB_HUMAN Brevican core protein (sprot)

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


name: HS3S2_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 2 (sprot)

description: A heparan sulfate glucosamine 3-O-sulfotransferase 2 that is encoded in the genome of human.


name: SIA8F_HUMAN Alpha-2,8-sialyltransferase 8F (sprot)

description: An alpha-2,8-sialyltransferase 8F that is encoded in the genome of human.


demecarium

The bis(quaternary ammonium) dication obtained by N,N'-dimethylation of the N,N'-bis[3-(dimethylamino)phenyl carbamate] derivative of 2,13-diazatetradecane.


Testicular mesothelioma

description: A Malignant mesothelioma of the testis.


Renal sodium wasting

description: An abnormally increased sodium concentration in the urine in the presence of hyponatremia.


name: SYYC_HUMAN Tyrosine--tRNA ligase, cytoplasmic (sprot)

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


name: T2EB_HUMAN Transcription initiation factor IIE subunit beta (sprot)

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


name: F120A_HUMAN Constitutive coactivator of PPAR-gamma-like protein 1 (sprot)

description: A constitutive coactivator of PPAR-gamma-like protein 1 that is encoded in the genome of human.


name: BFAR_HUMAN Bifunctional apoptosis regulator (sprot)

description: A bifunctional apoptosis regulator that is encoded in the genome of human.


breast diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.


GEMIFLOXACIN MESYLATE

The mesylate salt of gemifloxacin.


SUCCINYLACETONE

A dioxo monocarboxylic acid that is heptanoic acid in which oxo groups replace the hydrogens at positions 4 and 6. It is an abnormal metabolite of the tyrosine metabolic pathway and a marker for type 1 tyrosinaemia.


oculocutaneous albinism type 3

description: Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.


name: PGFRL_HUMAN Platelet-derived growth factor receptor-like protein (sprot)

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


hypobetalipoproteinemia

description: A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.


partial androgen insensitivity syndrome

description: Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.


clear cell adenoma

description: A benign neoplasm composed of glands containing epithelial clear cells.


HYPOTAURINE

An aminosulfinic acid comprising ethylamine having the sulfo group at the 2-position.


name: PIGP_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit P that is encoded in the genome of human.


SEP14_HUMAN Septin-14 (sprot)

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


name: ETV3L_HUMAN ETS translocation variant 3-like protein (sprot)

description: An ETS translocation variant 3-like protein that is encoded in the genome of human.


name: HIPK4_HUMAN Homeodomain-interacting protein kinase 4 (sprot)

description: A homeodomain-interacting protein kinase 4 that is encoded in the genome of human.


name: combined pituitary hormone deficiencies, genetic form

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


kidney liposarcoma

description: A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.


Acromicric dysplasia

description: A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.


MUC19_HUMAN Mucin-19 (sprot)

A mucin-19 that is encoded in the genome of human.


ORML1_HUMAN ORM1-like protein 1 (sprot)

An ORM1-like protein 1 that is encoded in the genome of human.


Schnyder corneal dystrophy

description: Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.


name: MPPD1_HUMAN Metallophosphoesterase domain-containing protein 1 (sprot)

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


A member of the class of phenanthridines that is 5,6-dihydrophenanthridine substituted at positions 2 and 6 by (N,N-dimethylglycyl)amino and oxo groups, respectively. It is a potent inhibitor of poly(ADP-ribose) polymerases PARP1 and PARP2 (IC50 of 110 nM and 86 nM, respectively) and exhibits anti-cancer, cardioprotective and neuroprotective properties.


Enteroviral hepatitis

description: Inflammation of the liver due to infection with enterovirus.


name: infective dermatitis associated with HTLV-1

description: A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.


hereditary von Willebrand disease

description: Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).


colon sarcoma

description: A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.


name: M4A6A_HUMAN Membrane-spanning 4-domains subfamily A member 6A (sprot)

description: A membrane-spanning 4-domains subfamily A member 6A that is encoded in the genome of human.


3-hydroxy fatty acyl-CoA

A hydroxy fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of any 3-hydroxy fatty acid.


name: VIP2_HUMAN Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 (sprot)

description: An inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 that is encoded in the genome of human.


name: SSNA1_HUMAN Microtubule nucleation factor SSNA1 (sprot)

description: A microtubule nucleation factor SSNA1 that is encoded in the genome of human.


SODIUM CAPRYLATE

An organic sodium salt comprising equal numbers of sodium and octanoate ions.


name: CCS_HUMAN Copper chaperone for superoxide dismutase (sprot)

description: A copper chaperone for superoxide dismutase that is encoded in the genome of human.


postcholecystectomy syndrome

description: Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.


sodium glycodeoxycholate

A bile acid salt that is the sodium salt of glycodeoxycholic acid.


glucobrassicin

An indolylmethylglucosinolic acid that is 1-thio-beta-D-glucopyranose having a 2-(1H-indol-3-yl)-N-(sulfooxy)ethanimidoyl group attached to the anomeric sulfur.


The organofluorine compound that is benzene with a fluoro substituent at the 1-position and two nitro substituents in the 2- and 4-positions.


name: CP4AM_HUMAN Cytochrome P450 4A22 (sprot)

description: A cytochrome P450 4A22 that is encoded in the genome of human.


name: CCD32_HUMAN Coiled-coil domain-containing protein 32 (sprot)

description: A coiled-coil domain-containing protein 32 that is encoded in the genome of human.


Donohue syndrome

description: Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.


Hypoplasia of the uterus

description: Underdevelopment of the uterus.


A commercially available mixture of 5-carboxyfluorescein and 6-carboxyfluorescein isomers. A fluorescent dye, it is commonly used as a tracer agent.


name: CHTOP_HUMAN Chromatin target of PRMT1 protein (sprot)

description: A chromatin target of PRMT1 protein that is encoded in the genome of human.


name: USBP1_HUMAN Harmonin-binding protein USHBP1 (sprot)

description: A harmonin-binding protein USHBP1 that is encoded in the genome of human.


perceptual disorders

description: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


chromomycosis

description: Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.


dexbrompheniramine

The (pharmacologically active) (S)-(+)-enantiomer of brompheniramine. A histamine H1 receptor antagonist, it is used (commonly as its maleate salt) for the symptomatic relief of allergic conditions, including rhinitis and conjunctivitis.


adult polyglucosan body disease

description: Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.


Peters anomaly

description: Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.


name: intravascular papillary endothelial hyperplasia

description: A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.


name: CT451_HUMAN Cancer/testis antigen family 45 member A1 (sprot)

description: A cancer/testis antigen family 45 member A1 that is encoded in the genome of human.


name: TIM16_HUMAN Mitochondrial import inner membrane translocase subunit TIM16 (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim16 that is encoded in the genome of human.


name: KBRS1_HUMAN NF-kappa-B inhibitor-interacting Ras-like protein 1 (sprot)

description: An NF-kappa-B inhibitor-interacting Ras-like protein 1 that is encoded in the genome of human.


Granulovacuolar degeneration

description: Electron-dense granules within double membrane-bound cytoplasmic vacuoles.


name: ALKL1_HUMAN ALK and LTK ligand 1 (sprot)

description: An ALK and LTK ligand 1 that is encoded in the genome of human.


autosomal dominant hypocalcemia 2

description: An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


3-hydroxyoctanoic acid

An 8-carbon, beta-hydroxy fatty acid which may be a marker for primary defects of beta-hydroxy fatty acid metabolism. Repeating unit of poly(3-hydroxyoctanoic acid), a biopolymer used by numerous bacterial species as carbon and energy reserves.


Phantosmia

description: Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


Cerebellar glioma

description: A glioma affecting the cerebellum.


acquired factor V deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


inflammatory bowel disease 2

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.


name: CHFR_HUMAN E3 ubiquitin-protein ligase CHFR (sprot)

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


Loeffler endocarditis

description: Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.


Cerebellar dysplasia

description: Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.


name: HUTI_HUMAN Probable imidazolonepropionase (sprot)

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


Addictive amphetamine use

description: Addiction to amphetamine or dextroamphetamine is a serious concern.


alpha-D-glucose

D-Glucopyranose having alpha-configuration at the anomeric centre.


name: VPS29_HUMAN Vacuolar protein sorting-associated protein 29 (sprot)

description: A vacuolar protein sorting-associated protein 29 that is encoded in the genome of human.


name: RN5A_HUMAN 2-5A-dependent ribonuclease (sprot)

description: A 2-5A-dependent ribonuclease that is encoded in the genome of human.


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


name: posterior polymorphous corneal dystrophy

description: Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.


name: TARM1_HUMAN T-cell-interacting, activating receptor on myeloid cells protein 1 (sprot)

description: A T-cell-interacting, activating receptor on myeloid cells protein 1 that is encoded in the genome of human.


name: SC22B_HUMAN Vesicle-trafficking protein SEC22b (sprot)

description: A vesicle-trafficking protein SEC22b that is encoded in the genome of human.


Abnormality of the ureter

description: An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


name: LRFN5_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 5 (sprot)

description: A leucine-rich repeat and fibronectin type-III domain-containing protein 5 that is encoded in the genome of human.


name: RM40_HUMAN Large ribosomal subunit protein mL40 (sprot)

description: A large ribosomal subunit protein mL40 that is encoded in the genome of human.


toxic oil syndrome

description: Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.


inflammatory bowel disease 18

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.


name: DYH6_HUMAN Dynein axonemal heavy chain 6 (sprot)

description: A dynein axonemal heavy chain 6 that is encoded in the genome of human.


incomplete septal cirrhosis

description: A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.


oncocytic neoplasm

description: A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)


name: EPHAA_HUMAN Ephrin type-A receptor 10 (sprot)

description: An ephrin type-A receptor 10 that is encoded in the genome of human.


name: RB33A_HUMAN Ras-related protein Rab-33A (sprot)

description: A Ras-related protein Rab-33A that is encoded in the genome of human.


name: pterin-4 alpha-carbinolamine dehydratase 1 deficiency

description: Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.


NITROSOBENZENE

A nitroso compound that is the nitroso derivative of benzene; a diamagnetic hybrid of singlet O2 and azobenzene.


GRAN_HUMAN Grancalcin (sprot)

A grancalcin that is encoded in the genome of human.


name: PLET1_HUMAN Placenta-expressed transcript 1 protein (sprot)

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


BETA-AMINOBUTYRIC ACID

A beta-amino acid that is butyric acid which is substituted by an amino group at position 3.


TPP+

A polyatomic cation consisting of four phenyl groups attached to a central phosphonium.


papillomatosis

description: Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.


multiple endocrine neoplasia type 2A

description: Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.


malignant cornea melanoma

description: A melanoma within the cornea of the eye.


name: ANKS3_HUMAN Ankyrin repeat and SAM domain-containing protein 3 (sprot)

description: An ankyrin repeat and SAM domain-containing protein 3 that is encoded in the genome of human.


methylsuccinic acid

A racemate comprising equimolar amounts of (R)- and (S)-methylsuccinic acid


meso-2,6-diaminopimelic acid

The meso-isomer of 2,6-diaminopimelic acid. It is a key constituent of bacterial peptidoglycan and is often found in human urine due to the breakdown of the gut microbes.


name: sickle cell-hemoglobin c disease syndrome

description: A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.


The all-cis-isomer of a C22 polyunsaturated fatty acid having five double bonds in the 4-, 7-, 10-, 13- and 16-positions. It is a member of n-6 PUFA and a product of linoleic acid metabolism.


name: INSC_HUMAN Protein inscuteable homolog (sprot)

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


name: ZDH23_HUMAN Palmitoyltransferase ZDHHC23 (sprot)

description: A palmitoyltransferase ZDHHC23 that is encoded in the genome of human.


name: TPC10_HUMAN Trafficking protein particle complex subunit 10 (sprot)

description: A trafficking protein particle complex subunit 10 that is encoded in the genome of human.


DIETHYLPROPION HYDROCHLORIDE

The hydrochloride salt of diethylpropion. A central stimulant and indirect-acting sympathomimetic, it is an appetite depressant and is used as an anoretic in the short term management of obesity.


name: KCTD9_HUMAN BTB/POZ domain-containing protein KCTD9 (sprot)

description: A BTB/POZ domain-containing protein KCTD9 that is encoded in the genome of human.


T-B- severe combined immunodeficiency

description: T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


name: S14L1_HUMAN SEC14-like protein 1 (sprot)

description: A SEC14-like protein 1 that is encoded in the genome of human.


furunculosis

description: A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida.


cynarine

An alkyl caffeate ester obtained by the formal condensation of hydroxy groups at positions 1 and 3 of ()-quinic acid with two molecules of trans-caffeic acid.


Johanson-Blizzard syndrome

description: A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.


name: HPTR_HUMAN Haptoglobin-related protein (sprot)

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


name: DMRTD_HUMAN Doublesex- and mab-3-related transcription factor C2 (sprot)

description: A doublesex- and mab-3-related transcription factor C2 that is encoded in the genome of human.


name: IGDC3_HUMAN Immunoglobulin superfamily DCC subclass member 3 (sprot)

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


semantic dementia

description: Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.


pericoronitis

description: Inflammation of the gingiva surrounding the crown of a tooth.


name: LST2_HUMAN Lateral signaling target protein 2 homolog (sprot)

description: A lateral signaling target protein 2 homolog that is encoded in the genome of human.


name: undifferentiated embryonal sarcoma of the liver

description: Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.


nocturnal enuresis

description: Urination during sleep.


name: HV432_HUMAN Immunoglobulin heavy variable 4-30-2 (sprot)

description: A protein that is a translation product of the IGHV4-30-2 gene in human.


YIPF6_HUMAN Protein YIPF6 (sprot)

A protein YIPF6 that is encoded in the genome of human.


name: DMB_HUMAN HLA class II histocompatibility antigen, DM beta chain (sprot)

description: An MHC class II histocompatibility antigen, DM beta chain that is encoded in the genome of human.


name: LIRB5_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 5 (sprot)

description: A leukocyte immunoglobulin-like receptor subfamily B member 5 that is encoded in the genome of human.


gnathodiaphyseal dysplasia

description: Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.


laryngitis

description: An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.


name: TM14C_HUMAN Transmembrane protein 14C (sprot)

description: A transmembrane protein 14C that is encoded in the genome of human.


name: NDUB1_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 (sprot)

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


Choriocapillaris atrophy

description: Atrophy of the capillary lamina of choroid.


SACS_HUMAN Sacsin (sprot)

A sacsin that is encoded in the genome of human.


vulvitis

description: Inflammation of the vulva. It is characterized by pruritus and painful urination.


Alzheimer disease 6

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.


name: THOC7_HUMAN THO complex subunit 7 homolog (sprot)

description: A THO complex subunit 7 that is encoded in the genome of human.


name: ENTD1_HUMAN ENTH domain-containing protein 1 (sprot)

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


Silent hypoxemia

description: Abnormally low blood oxygen level without the presence of dyspnea.


description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.


adenoid cystic carcinoma of oropharynx

description: A adenoid cystic carcinoma that involves the oropharynx.


Macular schisis

description: Splitting of the retina in the macular region.


SFXN3_HUMAN Sideroflexin-3 (sprot)

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


3-hydroxy fatty acid

Any fatty acid with a hydroxy functional group in the beta- or 3-position. beta-Hydroxy fatty acids accumulate during cardiac hypoxia, and can also be used as chemical markers of bacterial endotoxins.


MONODICTYPHENONE

A member of the class of benzophenones in which one phenyl group is substituted at positions 2 and 6 by hydroxy groups while the other is substituted at positions 2, 4, and 6 by hydroxy, methyl, and carboxy groups, respectively. First obtained from the fungal strain Monodictys putredinis, isolated from the inner tissue of a marine green alga, it was subsequently obtained from the fungus Aspergillus nidulans.


name: AP2D_HUMAN Transcription factor AP-2-delta (sprot)

description: A transcription factor AP-2-delta that is encoded in the genome of human.


name: STK19_HUMAN Inactive serine/threonine-protein kinase 19 (sprot)

description: An inactive serine/threonine-protein kinase 19 that is encoded in the genome of human.


methoxy mycolic acid

A mycolic acid produced by Mycobacterium tuberculosis. Its structure is that of tetracosanoic acid substituted at position 2 by a 1-hydroxy-18-[2-(17-methoxy-18-methylhexatriacontyl)cyclopropyl]octadecyl group.


name: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

description: An autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.


name: COMD2_HUMAN COMM domain-containing protein 2 (sprot)

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


endocardium disorder

description: A disease involving the endocardium.


humulone

An optically active cyclic ketone consisting of 3,5,6-trihydroxycyclohexa-2,4-dien-1-one bearing two 3-methylbut-2-en-1-yl substituents at positions 4 and 6 as well as a 3-methylbutanoyl group at the 2-position.


Hypoplasia of the corpus callosum

description: Underdevelopment of the corpus callosum.


name: XK_HUMAN Endoplasmic reticulum membrane adapter protein XK (sprot)

description: An endoplasmic reticulum membrane adapter protein XK that is encoded in the genome of human.


name: ENOF1_HUMAN Mitochondrial enolase superfamily member 1 (sprot)

description: A mitochondrial enolase superfamily member 1 that is encoded in the genome of human.


CP4F8_HUMAN Cytochrome P450 4F8 (sprot)

A cytochrome P450 4F8 that is encoded in the genome of human.


anthramycin

A member of the class of pyrrolobenzodiazepines that is (11aS)-5,10,11,11a-tetrahydro-1H-pyrrolo[2,1-c][1,4]benzodiazepine substituted at positions 2, 5, 8, 9 and 11R by a (1E)-3-amino-3-oxoprop-1-en-1-yl, oxo, methyl, hydroxy and hydroxy groups, respectively. It is a natural product isolated from Streptomyces refuineus subsp. thermotolerans.


name: TVB9_HUMAN T cell receptor beta variable 9 (sprot)

description: A protein that is a translation product of the TRBV9 gene in human.


salicin

An aryl beta-D-glucoside that is salicyl alcohol in which the phenolic hydrogen has been replaced by a beta-D-glucosyl residue.


name: small intestinal mucosa-associated lymphoid tissue lymphoma

description: A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.


name: GLBL3_HUMAN Beta-galactosidase-1-like protein 3 (sprot)

description: A beta-galactosidase-1-like protein 3 that is encoded in the genome of human.


glucoerucin

A thia-alkylglucosinolic acid that consists of 1-thio-beta-D-glucopyranose having a 5-(methylsulfanyl)-N-(sulfooxy)pentanimidoyl group attached to the anomeric sulfur.


epithelial-myoepithelial carcinoma

description: A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.


description: A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.


name: WFDC8_HUMAN WAP four-disulfide core domain protein 8 (sprot)

description: A WAP four-disulfide core domain protein 8 that is encoded in the genome of human.


(-)-CATECHIN

The (-)-enantiomer of catechin.


name: ZN322_HUMAN Zinc finger protein 322 (sprot)

description: A zinc finger protein 322 that is encoded in the genome of human.


Arm dystonia

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


A 2-monoglyceride where the acyl group is hexadecanoyl (palmitoyl).


name: KLH38_HUMAN Kelch-like protein 38 (sprot)

description: A kelch-like protein 38 that is encoded in the genome of human.


skin lymphangioma

description: A lymphangioma arising from the skin.


L-cysteine sulphinic acid

The organosulfinic acid arising from oxidation of the sulfhydryl group of L-cysteine.


Vaginal adenosis

description: Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


pneumatosis cystoides intestinalis

description: The presence of gas within the wall of the large or small intestine.


name: IFT57_HUMAN Intraflagellar transport protein 57 homolog (sprot)

description: An intraflagellar transport protein 57 that is encoded in the genome of human.


glycerol monomycolate (C85)

A mycolate ester formed by esterification of (2R)-2-{(1R)-1-hydroxy-15-[2-(20-methoxy-21-methylnonatriacontyl)cyclopropyl]pentadecyl}hexacosanoic acid with the 1-OH of glycerol.


gonadal disorder

description: A non-neoplastic or neoplastic disorder that affects the testis or the ovary.


Gaucher disease type III

description: Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.


name: NSUN7_HUMAN Putative methyltransferase NSUN7 (sprot)

description: A putative methyltransferase NSUN7 that is encoded in the genome of human.


name: TMG4_HUMAN Transmembrane gamma-carboxyglutamic acid protein 4 (sprot)

description: A transmembrane gamma-carboxyglutamic acid protein 4 that is encoded in the genome of human.


name: S6A16_HUMAN Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 (sprot)

description: An orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 that is encoded in the genome of human.


Fumitremorgin C

An organic heteropentacyclic compound that is a mycotoxic indole alkaloid produced by several fungi. A potent and specific inhibitor of the breast cancer resistance protein multidrug transporter.