name: EMSY_HUMAN BRCA2-interacting transcriptional repressor EMSY (sprot)

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


esophagus sarcoma

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

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


name: IFT1B_HUMAN Interferon-induced protein with tetratricopeptide repeats 1B (sprot)

description: An interferon-induced protein with tetratricopeptide repeats 1B that is encoded in the genome of human.


A 1-acyl-sn-glycerol where arachidonoyl forms the 1-acyl group.


name: TBC14_HUMAN TBC1 domain family member 14 (sprot)

description: A TBC1 domain family member 14 that is encoded in the genome of human.


name: CL17A_HUMAN C-type lectin domain family 17, member A (sprot)

description: A C-type lectin domain family 17, member A that is encoded in the genome of human.


Distal sensory impairment

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

description: An abnormal reduction in sensation in the distal portions of the extremities.


name: BLT3A_HUMAN Bridge-like lipid transfer protein family member 3A (sprot)

description: A bridge-like lipid transfer protein family member 3A that is encoded in the genome of human.


name: Recurrent Staphylococcus aureus infections

description: Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.


leiomyomatosis

description: A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.


name: TCAL9_HUMAN Transcription elongation factor A protein-like 9 (sprot)

description: A transcription elongation factor A protein-like 9 that is encoded in the genome of human.


breast leiomyosarcoma

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


proctosigmoiditis

description: Inflammation of the sigmoid colon and rectum.


name: AP-3 complex subunit sigma-2 isoform 1 (human)

description: An AP-3 complex subunit sigma-2 isoform 1 that is encoded in the genome of human.


name: DYLT2_HUMAN Dynein light chain Tctex-type protein 2 (sprot)

description: A dynein light chain Tctex-type protein 2 that is encoded in the genome of human.


nordazepam

A 1,4-benzodiazepinone having phenyl and chloro substituents at positions 5 and 7 respectively; it has anticonvulsant, anxiolytic, muscle relaxant and sedative properties but is used primarily in the treatment of anxiety.


name: THAP3_HUMAN THAP domain-containing protein 3 (sprot)

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


familial cutaneous collagenoma

description: Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.


alcohol-induced disorders

description: Disorders stemming from the misuse and abuse of alcohol.


name: LYPD8_HUMAN Ly6/PLAUR domain-containing protein 8 (sprot)

description: An Ly6/PLAUR domain-containing protein 8 that is encoded in the genome of human.


Laryngospasm

description: A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.


name: RN19A_HUMAN E3 ubiquitin-protein ligase RNF19A (sprot)

description: An E3 ubiquitin-protein ligase RNF19A that is encoded in the genome of human.


Bannayan-Riley-Ruvalcaba syndrome

description: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.


familial atrioventricular septal defect

description: A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.


name: HV270_HUMAN Immunoglobulin heavy variable 2-70 (sprot)

description: A protein that is a translation product of the IGHV2-70 gene in human.


FLUORENE

An ortho-fused tricyclic hydrocarbon that is a major component of fossil fuels and their derivatives


name: ST3L3_HUMAN STAG3-like protein 3 (sprot)

description: A STAG3-like protein 3 that is encoded in the genome of human.


name: NHRF4_HUMAN Na(+)/H(+) exchange regulatory cofactor NHE-RF4 (sprot)

description: A Na(+)/H(+) exchange regulatory cofactor NHE-RF4 that is encoded in the genome of human.


name: TMM62_HUMAN Transmembrane protein 62 (sprot)

description: A transmembrane protein 62 that is encoded in the genome of human.


Female sexual dysfunction

description: A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


dioleoylglycerol

A diglyceride in which both groups are oleoyl with their positions of acylation unspecified. Formula C39H72O5. For the structure shown, either R1 = H and R2 = oleoyl or R1 = oleoyl and R2 = H.


name: EFCB5_HUMAN EF-hand calcium-binding domain-containing protein 5 (sprot)

description: An EF-hand calcium-binding domain-containing protein 5 that is encoded in the genome of human.


ectopic pregnancy

description: An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.


palmitoleoyl ethanolamide

An N-acylethanolamine 16:1 that is the ethanolamide of palmitoleic acid.


name: LTK_HUMAN Leukocyte tyrosine kinase receptor (sprot)

description: A leukocyte tyrosine kinase receptor that is encoded in the genome of human.


intracranial hemangioma

description: A hemangioma arising from the brain and meninges.


name: macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

description: An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.


Paratracheal lymphadenopathy

description: Enlargement of lymph nodes surrounding the trachea.


methyltrioctylammonium chloride

An organic chloride salt having methyltrioctylammonium as the cation.


SULBACTAM SODIUM

The organic sodium salt of sulbactam.


name: AMER3_HUMAN APC membrane recruitment protein 3 (sprot)

description: An APC membrane recruitment protein 3 that is encoded in the genome of human.


Acetabular dysplasia

description: A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.


Hepatic bridging fibrosis

description: Hepatic fibrosis that reaches from a portal area to another portal area.


stromal keratitis

description: Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.


name: ODAD2_HUMAN Outer dynein arm-docking complex subunit 2 (sprot)

description: An outer dynein arm-docking complex subunit 2 that is encoded in the genome of human.


name: AGRG7_HUMAN Adhesion G-protein coupled receptor G7 (sprot)

description: An adhesion G-protein coupled receptor G7 that is encoded in the genome of human.


name: DGLA_HUMAN Diacylglycerol lipase-alpha (sprot)

description: A diacylglycerol lipase-alpha that is encoded in the genome of human.


name: AT8B3_HUMAN Phospholipid-transporting ATPase IK (sprot)

description: A phospholipid-transporting ATPase IK that is encoded in the genome of human.


name: KRA52_HUMAN Keratin-associated protein 5-2 (sprot)

description: A keratin-associated protein 5-2 that is encoded in the genome of human.


hyperparathyroidism 2 with jaw tumors

description: An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


name: GNAL_HUMAN Guanine nucleotide-binding protein G(olf) subunit alpha (sprot)

description: A guanine nucleotide-binding protein G(olf) subunit alpha that is encoded in the genome of human.


Arterial calcification

description: Pathological deposition of calcium salts in one or more arteries.


name: TCFL5_HUMAN Transcription factor-like 5 protein (sprot)

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


N-benzoylanthranilic acid

An amidobenzoic acid comprising benzoic acid having a benzamido group at the 2-position.


name: CCG5_HUMAN Voltage-dependent calcium channel gamma-5 subunit (sprot)

description: A voltage-dependent calcium channel gamma-5 subunit that is encoded in the genome of human.


name: PGM2L_HUMAN Glucose 1,6-bisphosphate synthase (sprot)

description: A glucose 1,6-bisphosphate synthase that is encoded in the genome of human.


name: M3K19_HUMAN Mitogen-activated protein kinase kinase kinase 19 (sprot)

description: A mitogen-activated protein kinase kinase kinase 19 that is encoded in the genome of human.


triosephosphate isomerase deficiency

description: Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.


name: ROGDI_HUMAN Protein rogdi homolog (sprot)

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


RNAS8_HUMAN Ribonuclease 8 (sprot)

A ribonuclease 8 that is encoded in the genome of human.


name: SYVM_HUMAN Valine--tRNA ligase, mitochondrial (sprot)

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


quinethazone

A member of the class of quinazolines that is quinazolin-4-one substituted at positions 2, 6 and 7 by ethyl, sulfamoyl and chloro groups respectively; a thiazide-like diuretic used to treat hypertension.


epilepsia partialis continua

description: A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)


neoplasm of chest wall

description: A neoplasm (disease) that involves the chest wall.


poly(ethylene glycol diacrylate)

A poly(ethylene glycol) compound terminated with acrylate groups.


thymic neuroendocrine tumor

description: Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.


Limb apraxia

description: Difficulty in performing the correct execution of limbs movements in absence of motor impairment.


hypothalamic neoplasm

description: A primary or metastatic neoplasm that affects the hypothalamus.


name: PKHB2_HUMAN Pleckstrin homology domain-containing family B member 2 (sprot)

description: A pleckstrin homology domain-containing family B member 2 that is encoded in the genome of human.


name: CE85L_HUMAN Centrosomal protein of 85 kDa-like (sprot)

description: A centrosomal protein of 85 kDa-like that is encoded in the genome of human.


name: FANCL_HUMAN E3 ubiquitin-protein ligase FANCL (sprot)

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


name: PLGT2_HUMAN Protein O-glucosyltransferase 2 (sprot)

description: A protein O-glucosyltransferase 2 that is encoded in the genome of human.


name: ZBT39_HUMAN Zinc finger and BTB domain-containing protein 39 (sprot)

description: A zinc finger and BTB domain-containing protein 39 that is encoded in the genome of human.


name: SNR27_HUMAN U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein (sprot)

description: A U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein that is encoded in the genome of human.


Olivary degeneration

description: Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.


name: PRD11_HUMAN PR domain-containing protein 11 (sprot)

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


PEPA3_HUMAN Pepsin A-3 (sprot)

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


name: facial onset sensory and motor neuronopathy

description: Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.


chondrogenic neoplasm

description: A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.


name: MRGBP_HUMAN MRG/MORF4L-binding protein (sprot)

description: An MRG/MORF4L-binding protein that is encoded in the genome of human.


name: HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like protein (sprot)

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


HMN11_HUMAN Humanin-like 11 (sprot)

A protein that is a translation product of the MTRNR2L11 gene in human.


zaragozic acid A

A polyketide isolated from fungi that is a potent inhibitor of fungal and mammalian squalene synthase.


Omsk hemorrhagic fever

description: Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.


Nezelof syndrome

description: Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


name: TEX22_HUMAN Testis-expressed protein 22 (sprot)

description: A testis-expressed protein 22 that is encoded in the genome of human.


name: GFRA4_HUMAN GDNF family receptor alpha-4 (sprot)

description: A GDNF family receptor alpha-4 that is encoded in the genome of human.


name: skin fibroepithelial basal cell carcinoma

description: A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.


name: FRPD2_HUMAN FERM and PDZ domain-containing protein 2 (sprot)

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


name: ZN704_HUMAN Zinc finger protein 704 (sprot)

description: A zinc finger protein 704 that is encoded in the genome of human.


Tongue edema

description: An abnormal accumulation of fluid and swelling in the tongue.


biliverdin hydrochloride

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


TOR2A_HUMAN Torsin-2A (sprot)

A torsin-2A (human), isoforms 1, 2, and 3.


NAPHTHYLAMINE

A naphthylamine carrying the amino group at position 2.


name: GRPE1_HUMAN GrpE protein homolog 1, mitochondrial (sprot)

description: A GrpE protein homolog 1, mitochondrial that is encoded in the genome of human.


skin angiosarcoma

description: A malignant vascular neoplasm arising from the skin.


Lipemia retinalis

description: A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.


name: HMHB1_HUMAN Minor histocompatibility protein HB-1 (sprot)

description: A minor histocompatibility protein HB-1 that is encoded in the genome of human.


MTX3_HUMAN Metaxin-3 (sprot)

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


Atrophic pituitary gland

description: Partial or complete wasting (loss) of the pituitary gland.


2-oxosuberic acid

An oxo dicarboxylic acid that is suberic acid substituted by an oxo group at position 2.


GLYPHOSATE

A phosphonic acid resulting from the formal oxidative coupling of the methyl group of methylphosphonic acid with the amino group of glycine. It is one of the most commonly used herbicides worldwide, and the only one to target the enzyme 5-enolpyruvyl-3-shikimate phosphate synthase (EPSPS).


testicular leukemia

description: A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03


name: DPYD_HUMAN Dihydropyrimidine dehydrogenase [NADP(+)] (sprot)

description: A dihydropyrimidine dehydrogenase [NADP(+)] that is encoded in the genome of human.


name: ASCL3_HUMAN Achaete-scute homolog 3 (sprot)

description: An achaete-scute homolog 3 that is encoded in the genome of human.


name: NB5R2_HUMAN NADH-cytochrome b5 reductase 2 (sprot)

description: An NADH-cytochrome b5 reductase 2 that is encoded in the genome of human.


name: ST7_HUMAN Suppressor of tumorigenicity 7 protein (sprot)

description: A suppressor of tumorigenicity 7 protein that is encoded in the genome of human.


Typical absence seizure

description: A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


RET fusion positive cancer

description: Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.


name: UT14C_HUMAN U3 small nucleolar RNA-associated protein 14 homolog C (sprot)

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


name: K1C27_HUMAN Keratin, type I cytoskeletal 27 (sprot)

description: A keratin, type I cytoskeletal 27 that is encoded in the genome of human.


carbamate

Any ester of carbamic acid or its N-substituted derivatives.


bladder exstrophy

description: Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.


urothelial dysplasia

description: A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.


name: FKBP6_HUMAN Inactive peptidyl-prolyl cis-trans isomerase FKBP6 (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP6 that is encoded in the genome of human.


TRIPALMITIN

A triglyceride obtained by formal acylation of the three hydroxy groups of glycerol by palmitic (hexadecanoic) acid.


maligant granulosa cell tumor of ovary

description: An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


hereditary skeletal muscle disorder

description: An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.


epsilon-(gamma-glutamyl)lysine

An N(6)-acyl-L-lysine derivative in which the acyl group is specified as gamma-glutamyl.


name: AT133_HUMAN Polyamine-transporting ATPase 13A3 (sprot)

description: A polyamine-transporting ATPase 13A3 that is encoded in the genome of human.


name: TTL11_HUMAN Tubulin polyglutamylase TTLL11 (sprot)

description: A tubulin polyglutamylase TTLL11 that is encoded in the genome of human.


name: CTBL1_HUMAN Beta-catenin-like protein 1 (sprot)

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


Alzheimer disease 11

description: An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.


name: RUND1_HUMAN RUN domain-containing protein 1 (sprot)

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


TNPO2_HUMAN Transportin-2 (sprot)

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


name: SSX6_HUMAN Putative protein SSX6 (sprot)

description: A putative protein SSX6 that is encoded in the genome of human.


PMM1_HUMAN Phosphomannomutase 1 (sprot)

A phosphomannomutase 1 that is encoded in the genome of human.


name: CABP5_HUMAN Calcium-binding protein 5 (sprot)

description: A calcium-binding protein 5 that is encoded in the genome of human.


adrenal rest tumor

description: A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.


name: RS17_HUMAN Small ribosomal subunit protein eS17 (sprot)

description: A small ribosomal subunit protein eS17 that is encoded in the genome of human.


chronic mountain sickness

description: A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.


Duane retraction syndrome

description: Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.


Skin detachment

description: Loss of sections of skin either spontaneously or after gentle handling.


verrucous papilloma

description: A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.


choroid plexus neoplasm

description: An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.


hydrolethalus syndrome

description: Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.


name: generalized galactose epimerase deficiency


DTNB_HUMAN Dystrobrevin beta (sprot)

A dystrobrevin beta that is encoded in the genome of human.


name: MAFG_HUMAN Transcription factor MafG (sprot)

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


name: ABCAD_HUMAN ATP-binding cassette sub-family A member 13 (sprot)

description: An ATP-binding cassette sub-family A member 13 that is encoded in the genome of human.


name: RRP8_HUMAN Ribosomal RNA-processing protein 8 (sprot)

description: A ribosomal RNA-processing protein 8 that is encoded in the genome of human.


name: ZN568_HUMAN Zinc finger protein 568 (sprot)

description: A zinc finger protein 568 that is encoded in the genome of human.


Mansonella ozzardi infection

description: An infection that is caused by the organism Mansonella ozzardi.


name: ENDOU_HUMAN Uridylate-specific endoribonuclease (sprot)

description: A uridylate-specific endoribonuclease that is encoded in the genome of human.


name: PAPOB_HUMAN Poly(A) polymerase beta (sprot)

description: A poly(A) polymerase beta that is encoded in the genome of human.


name: RT02_HUMAN Small ribosomal subunit protein uS2m (sprot)

description: A small ribosomal subunit protein uS2m that is encoded in the genome of human.


pyelitis

description: Inflammation of the renal pelvis.


Hyperlysinuria

description: An increased concentration of lysine in the urine.


neuroblastic tumor

description: A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


FA83H_HUMAN Protein FAM83H (sprot)

A protein FAM83H that is encoded in the genome of human.


name: SRPRB_HUMAN Signal recognition particle receptor subunit beta (sprot)

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


name: DJC17_HUMAN DnaJ homolog subfamily C member 17 (sprot)

description: A DnaJ homolog subfamily C member 17 that is encoded in the genome of human.


8-hydroxymanzamine A

An alkaloid that is manzamine A with a hydroxy substituent at position 8. Isolated from Pachypellina and Acanthostrongylophora, it exhibits inhibitory activity against Glycogen Synthase Kinase-3 (EC 2.7.11.26).


name: ESYT2_HUMAN Extended synaptotagmin-2 (sprot)

description: An extended synaptotagmin-2 that is encoded in the genome of human.


inherited porphyria

description: Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.


Sputum eosinophilia

description: An increased proportion of eosinophils in sputum in the differentiated cell count.


name: squamous cell carcinoma of floor of mouth

description: A squamous cell carcinoma that involves the mouth floor.


name: FOXI2_HUMAN Forkhead box protein I2 (sprot)

description: A forkhead box protein I2 that is encoded in the genome of human.


name: H1FNT_HUMAN Testis-specific H1 histone (sprot)

description: A testis-specific H1 histone that is encoded in the genome of human.


name: PCDGL_HUMAN Protocadherin gamma-C4 (sprot)

description: A protocadherin gamma-C4 that is encoded in the genome of human.


name: TPC11_HUMAN Trafficking protein particle complex subunit 11 (sprot)

description: A trafficking protein particle complex subunit 11 that is encoded in the genome of human.


cardiolipin (18:3/18:1/18:3/20:3)

A cardiolipin composed from two octadecatrienyl groups, one octadecenyl group and one icosatrieoyl group.


acute tonsillitis

description: An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.


name: SNPC2_HUMAN snRNA-activating protein complex subunit 2 (sprot)

description: An snRNA-activating protein complex subunit 2 that is encoded in the genome of human.


name: FXRD1_HUMAN FAD-dependent oxidoreductase domain-containing protein 1 (sprot)

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


name: interstitial granulomatous dermatitis with arthritis

description: Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.


Hermansky-Pudlak syndrome 1

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.


name: BEGIN_HUMAN Brain-enriched guanylate kinase-associated protein (sprot)

description: A brain-enriched guanylate kinase-associated protein that is encoded in the genome of human.


name: NPFF_HUMAN Pro-FMRFamide-related neuropeptide FF (sprot)

description: An FMRFamide-related neuropeptide FF that is encoded in the genome of human.


primary cerebellar degeneration

description: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.


acrodysostosis

description: Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.


name: UD15_HUMAN UDP-glucuronosyltransferase 1A5 (sprot)

description: A UDP-glucuronosyltransferase 1A5 that is encoded in the genome of human.


name: SYQ_HUMAN Glutamine--tRNA ligase (sprot)

description: A glutamine--tRNA ligase that is encoded in the genome of human.


Coenzyme Q2

Any benzoquinone derived from 2,3-dimethoxy-5-methylbenzoquinone; one of a group of naturally occurring homologues. The redox-active quinoid moiety usually carries a polyprenoid side chain at position 6, the number of isoprenoid units in which is species-specific. Ubiquinones are involved in the control of mitochondrial electron transport, and are also potent anti-oxidants.


phosphinate

A phosphorus oxoanion resulting from the removal of a proton from the hydroxy group of phosphinic acid.


name: DNJB5_HUMAN DnaJ homolog subfamily B member 5 (sprot)

description: A DnaJ homolog subfamily B member 5 that is encoded in the genome of human.


inherited torticollis

description: A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.


azulene

A mancude carbobicyclic parent consisting of a cycloheptatriene and cyclopentadiene rings.


canine distemper

description: A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.


hairy tongue

description: A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.


name: MEX3A_HUMAN RNA-binding protein MEX3A (sprot)

description: An RNA-binding protein MEX3A that is encoded in the genome of human.


Cerebellar cortical atrophy

description: Atrophy (wasting) of the cerebellar cortex.


CALYCOSIN

A member of the class of 7-hydroxyisoflavones that is 7-hydroxyisoflavone which is substituted by an additional hydroxy group at the 3' position and a methoxy group at the 4' position.


name: T150A_HUMAN Transmembrane protein 150A (sprot)

description: A transmembrane protein 150A that is encoded in the genome of human.


bacterial myocarditis

description: Myocarditis that is caused by an infection with a bacterial agent.


name: TIM21_HUMAN Mitochondrial import inner membrane translocase subunit Tim21 (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim21 that is encoded in the genome of human.


osteocraniostenosis

description: Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.


carfentanil

A monocarboxylic acid amide resulting from the formal condensation of the aryl amino group of methyl 4-anilino-1-(2-phenylethyl)piperidine-4-carboxylate with propanoic acid.


NARIRUTIN

A disaccharide derivative that is (S)-naringenin substituted by a 6-O-(6-deoxy-alpha-L-mannopyranosyl)-beta-D-glucopyranosyl moiety at position 7 via a glycosidic linkage.


name: COGA1_HUMAN Collagen alpha-1(XVI) chain (sprot)

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


EVPL_HUMAN Envoplakin (sprot)

An envoplakin that is encoded in the genome of human.


Babinski sign

description: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.


Impaired vibratory sensation

description: A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.


penicilliosis

description: A disease caused by infection with Talaromyces marneffei.


acute papillary necrosis

description: Acute form of kidney papillary necrosis.


name: ZN692_HUMAN Zinc finger protein 692 (sprot)

description: A zinc finger protein 692 that is encoded in the genome of human.


Underdeveloped nasal alae

description: Thinned, deficient, or excessively arched ala nasi.


name: O5B21_HUMAN Olfactory receptor 5B21 (sprot)

description: An olfactory receptor 5B21 that is encoded in the genome of human.


name: MD13L_HUMAN Mediator of RNA polymerase II transcription subunit 13-like (sprot)

description: A mediator of RNA polymerase II transcription subunit 13-like that is encoded in the genome of human.


secondary Parkinson disease

description: A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.


name: X-linked sideroblastic anemia with ataxia

description: A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.


name: RN145_HUMAN RING finger protein 145 (sprot)

description: A RING finger protein 145 that is encoded in the genome of human.


dermis tumor

description: A benign, intermediate, or malignant neoplasm that arises from the dermis.


Drosophila C virus infection

description: A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses.


name: X-linked hypohidrotic ectodermal dysplasia

description: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.


name: CQ10B_HUMAN Coenzyme Q-binding protein COQ10 homolog B, mitochondrial (sprot)

description: A coenzyme Q-binding protein COQ10 homolog B, mitochondrial that is encoded in the genome of human.


Choline C-11

A choline in which one of the methyl carbons is replaced by an (11)C isotope. An intravenous radioactive diagnostic agent used (in the form of its chloride salt) as a tracer during positron emission tomography scans to help detect sites of recurrent prostate cancer.


episodic angioedema with eosinophilia

description: A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.


HISPIDIN

Fungal metabolite first found in basidiomycete Inonotus hispidus (formerly Polyporus hispidus).


bronchial neoplasm

description: Tumors or cancer of the bronchi.


name: DZIP3_HUMAN E3 ubiquitin-protein ligase DZIP3 (sprot)

description: An E3 ubiquitin-protein ligase DZIP3 that is encoded in the genome of human.


Photopsia

description: Perceived flashes of light.


Episodic eosinophilia

description: Recurrent episodes of marked eosinophilia that resolve spontaneously.


name: HPLN2_HUMAN Hyaluronan and proteoglycan link protein 2 (sprot)

description: A hyaluronan and proteoglycan link protein 2 that is encoded in the genome of human.


Palpable purpura

description: A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).


name: prolactin-producing pituitary gland carcinoma

description: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.


name: NAGS_HUMAN N-acetylglutamate synthase, mitochondrial (sprot)

description: An N-acetylglutamate synthase, mitochondrial that is encoded in the genome of human.


metabolic epilepsy

description: Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.


LC7L3_HUMAN Luc7-like protein 3 (sprot)

A cisplatin resistance-associated overexpressed protein that is encoded in the genome of human.


name: LRC8C_HUMAN Volume-regulated anion channel subunit LRRC8C (sprot)

description: A volume-regulated anion channel subunit LRRC8C that is encoded in the genome of human.


coumestrol

A member of the class of coumestans that is coumestan with hydroxy substituents at positions 3 and 9.


rectum mucinous adenocarcinoma

description: An invasive adenocarcinoma of the rectum 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.


name: ZNF23_HUMAN Zinc finger protein 23 (sprot)

description: A zinc finger protein 23 that is encoded in the genome of human.


Mild myopia

description: A mild form of myopia with up to -3.00 diopters.


BENZIDINE

A member of the class of biphenyls that is 1,1'-biphenyl in which the hydrogen at the para-position of each phenyl group has been replaced by an amino group.


inherited aplastic anemia

description: An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.


ethylmercuric chloride

A highly toxic organomercury compound which is used as a fungicide for treating seeds.


akinetic mutism

description: A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)


name: FBCD1_HUMAN Fibrinogen C domain-containing protein 1 (sprot)

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


name: CAR17_HUMAN Putative caspase recruitment domain-containing protein 17P (sprot)

description: A putative caspase recruitment domain-containing protein 17P that is encoded in the genome of human.


trichoblastoma

description: A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.


USH1C_HUMAN Harmonin (sprot)

A harmonin that is encoded in the genome of human.


Abnormality of the face

description: An abnormality of the face.


name: squamous cell carcinoma of buccal mucosa

description: A squamous cell carcinoma that involves the buccal mucosa.


name: RGMB_HUMAN Repulsive guidance molecule B (sprot)

description: A repulsive guidance molecule B that is encoded in the genome of human.


measles

description: A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).


anisakiasis

description: Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.


name: SYAP1_HUMAN Synapse-associated protein 1 (sprot)

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


name: S66A3_HUMAN Solute carrier family 66 member 3 (sprot)

description: A solute carrier family 66 member 3 that is encoded in the genome of human.


name: PAI2B_HUMAN Polyadenylate-binding protein-interacting protein 2B (sprot)

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


equine infectious anemia

description: Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.


adamantinoma

description: A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.


diastrophic dysplasia

description: Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).


name: CABP4_HUMAN Calcium-binding protein 4 (sprot)

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


name: EPAG_HUMAN Early lymphoid activation gene protein (sprot)

description: An early lymphoid activation gene protein that is encoded in the genome of human.


Uterine adenofibroma

description: A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.


alcoholic gastritis

description: Inflammation of the stomach resulting from alcohol ingestion.


ALOSETRON HYDROCHLORIDE

The hydrochloride salt of alosetron.


benign neoplasm of large intestine

description: A benign neoplasm that involves the large intestine.


adrenal gland myelolipoma

description: A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.


name: TMG3_HUMAN Transmembrane gamma-carboxyglutamic acid protein 3 (sprot)

description: A transmembrane gamma-carboxyglutamic acid protein 3 that is encoded in the genome of human.


name: macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.


bovine leukemia

description: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle


name: IGLC1_HUMAN Immunoglobulin lambda constant 1 (sprot)

description: A protein that is a translation product of the IGLC1 gene in human.


name: RGDSR_HUMAN Ral-GDS-related protein (sprot)

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


name: QOR_HUMAN Quinone oxidoreductase (sprot)

description: A quinone oxidoreductase that is encoded in the genome of human.


EOLA1_HUMAN Protein EOLA1 (sprot)

A protein that is a translation product of the EOLA1 gene in human.


name: RM04_HUMAN Large ribosomal subunit protein uL4m (sprot)

description: A large ribosomal subunit protein uL4m that is encoded in the genome of human.


Reis-Bucklers corneal dystrophy

description: Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.


Abnormal apoptosis

description: Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.


name: ZN267_HUMAN Zinc finger protein 267 (sprot)

description: A zinc finger protein 267 that is encoded in the genome of human.


name: DISP2_HUMAN Protein dispatched homolog 2 (sprot)

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


F167B_HUMAN Protein FAM167B (sprot)

A protein FAM167B that is encoded in the genome of human.


name: ARL11_HUMAN ADP-ribosylation factor-like protein 11 (sprot)

description: An ADP-ribosylation factor-like protein 11 that is encoded in the genome of human.


name: HUS1B_HUMAN Checkpoint protein HUS1B (sprot)

description: A checkpoint protein HUS1B that is encoded in the genome of human.


name: CIB4_HUMAN Calcium and integrin-binding family member 4 (sprot)

description: A calcium and integrin-binding family member 4 that is encoded in the genome of human.


Gastrocnemius myalgia

description: Pain of the gastrocnemius muscle.


GRB1L_HUMAN GREB1-like protein (sprot)

A GREB1-like protein that is encoded in the genome of human.


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

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


euxanthone

A member of the class of xanthones that is 9H-xanthene substituted by hydroxy group at positions 1 and 7 and an oxo group at position 9. It has been isolated from Cratoxylum cochinchinense.


4-vinylphenol sulfate

An  aryl sulfate that is 4-hydroxystyrene in which the hydroxy group has been replaced by a sulfooxy group.


lung lymphangioleiomyomatosis

description: Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.


name: ASCC1_HUMAN Activating signal cointegrator 1 complex subunit 1 (sprot)

description: An activating signal cointegrator 1 complex subunit 1 that is encoded in the genome of human.


substernal goiter

description: An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.


mixed gonadal dysgenesis

description: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.


name: HXC12_HUMAN Homeobox protein Hox-C12 (sprot)

description: A homeobox protein Hox-C12 that is encoded in the genome of human.


choroidal neovascularization

description: An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.


turanose

A glycosylfructose isolated from Daphnia magna.


ecgonine

A tropane alkaloid that consists of tropane bearing carboxy and hydroxy substituents at positions 2 and 3 respectively and having (1R,2R,3S,5S)-configuration. It is both a metabolite of and a precursor to cocaine.


Perirenal hematoma

description: A collection of clotted blood surrounding the kidney.


focal myositis

description: Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.


ABITM_HUMAN Protein Abitram (sprot)

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


1,3,7-trimethyluric acid

An oxopurine in which the purine ring is substituted by oxo groups at positions 2, 6, and 8, and the nitrogens at positions 1, 3, and 7 are substituted by methyl groups. It is a metabolite of caffeine.


name: ZN830_HUMAN Zinc finger protein 830 (sprot)

description: A zinc finger protein 830 that is encoded in the genome of human.


clonixin

A pyridinemonocarboxylic acid that is nicotinic acid substituted at position 2 by a (2-methyl-3-chlorophenyl)amino group. Used (as its lysine salt) for treatment of renal colic, muscular pain and moderately severe migraine attacks.


Gastrointestinal ulcer

description: A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.


infantile digital fibromatosis

description: A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


name: CE152_HUMAN Centrosomal protein of 152 kDa (sprot)

description: A centrosomal protein of 152 kDa that is encoded in the genome of human.


D-pipecolic acid

The D-enantiomer of pipecolic acid.


congenital nystagmus

description: Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)


xeroderma pigmentosum group G

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.


name: mucinous tubular and spindle renal cell carcinoma

description: A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.


name: CND3_HUMAN Condensin complex subunit 3 (sprot)

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


name: MOB3B_HUMAN MOB kinase activator 3B (sprot)

description: A MOB kinase activator 3B that is encoded in the genome of human.


name: GOG8A_HUMAN Golgin subfamily A member 8A (sprot)

description: A golgin subfamily A member 8A that is encoded in the genome of human.


name: MFSD6_HUMAN Major facilitator superfamily domain-containing protein 6 (sprot)

description: A major facilitator superfamily domain-containing protein 6 that is encoded in the genome of human.


butoconazole

A member of the class of imidazoles that is 1H-imidazole in which the hydrogen attached to the nitrogen is substituted by a 4-(4-chlorophenyl)-2-[(2,6-dichlorophenyl)sulfanyl]butyl group. An antifungal agent, it is used as its nitrate salt in gynaecology for treatment of vulvovaginal infections caused by Candida species, particularly Candida albicans.


Congenital lactic acidosis

description: A form of lactic acidemia with congenital onset.


adrenal medullary hyperplasia

description: A hyperplasia that involves the adrenal medulla.


name: MCRI1_HUMAN Mapk-regulated corepressor-interacting protein 1 (sprot)

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


name: TMCC2_HUMAN Transmembrane and coiled-coil domains protein 2 (sprot)

description: A transmembrane and coiled-coil domains protein 2 that is encoded in the genome of human.


name: RT27_HUMAN Small ribosomal subunit protein mS27 (sprot)

description: A small ribosomal subunit protein mS27 that is encoded in the genome of human.


FA50A_HUMAN Protein FAM50A (sprot)

A protein FAM50A that is encoded in the genome of human.


FA50B_HUMAN Protein FAM50B (sprot)

A protein FAM50B that is encoded in the genome of human.


name: NAIF1_HUMAN Nuclear apoptosis-inducing factor 1 (sprot)

description: A nuclear apoptosis-inducing factor 1 that is encoded in the genome of human.


ethotoin

An imidazolidine-2,4-dione that is hydantoin substituted by ethyl and phenyl at positions 3 and 5, respectively. An antiepileptic, it is less toxic than phenytoin but also less effective.


name: TXND6_HUMAN Thioredoxin domain-containing protein 6 (sprot)

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


name: MNT_HUMAN Max-binding protein MNT (sprot)

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


m-toluic acid

A methylbenzoic acid carrying a methyl substituent at position 3.


GRD2I_HUMAN Delphilin (sprot)

A delphilin that is encoded in the genome of human.


parotid gland squamous cell carcinoma

description: An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.


name: EID3_HUMAN EP300-interacting inhibitor of differentiation 3 (sprot)

description: An EP300-interacting inhibitor of differentiation 3 that is encoded in the genome of human.


name: S7A6O_HUMAN Probable RNA polymerase II nuclear localization protein SLC7A6OS (sprot)

description: A protein SLC7A6OS that is encoded in the genome of human.


name: D19L4_HUMAN Probable C-mannosyltransferase DPY19L4 (sprot)

description: A protein dpy-19 4 that is encoded in the genome of human.


name: KRA51_HUMAN Keratin-associated protein 5-1 (sprot)

description: A keratin-associated protein 5-1 that is encoded in the genome of human.


name: MINY1_HUMAN Ubiquitin carboxyl-terminal hydrolase MINDY-1 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase MINDY-1 that is encoded in the genome of human.


name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


name: AN13A_HUMAN Ankyrin repeat domain-containing protein 13A (sprot)

description: An ankyrin repeat domain-containing protein 13A that is encoded in the genome of human.


Mitochondrial depletion

description: An abnormal reduction in mitochondrial DNA content of cells.


thionyl chloride

A sulfinyl halide in which both of the halide atoms are chorines.


name: ZN711_HUMAN Zinc finger protein 711 (sprot)

description: A zinc finger protein 711 that is encoded in the genome of human.


benign neoplasm of parotid gland

description: A benign neoplasm that involves the parotid gland.


Capillary fragility

description: Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).


name: TTC5_HUMAN Tetratricopeptide repeat protein 5 (sprot)

description: A tetratricopeptide repeat protein 5 that is encoded in the genome of human.


olsalazine sodium

An organic sodium salt that is the disodium salt of 3,3'-azobis(6-hydroxybenzoic acid) (olsalazine). Effective in the treatment of inflammatory bowel disease and ulcerative colitis. Mechanism of action unknown, but appears to be topical


A phenanthrol that is phenanthrene in which a hydrogen attached to a carbon in the central ring has been replaced by a hydroxy group.


name: SPRN_HUMAN Shadow of prion protein (sprot)

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


name: PDCL3_HUMAN Phosducin-like protein 3 (sprot)

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


inosine triphosphatase deficiency

description: An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.


name: UBP42_HUMAN Ubiquitin carboxyl-terminal hydrolase 42 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 42 that is encoded in the genome of human.


name: ZNF44_HUMAN Zinc finger protein 44 (sprot)

description: A zinc finger protein 44 that is encoded in the genome of human.


CSTL1_HUMAN Cystatin-like 1 (sprot)

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


name: well-differentiated fetal adenocarcinoma of the lung

description: Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.


name: RM34_HUMAN Large ribosomal subunit protein bL34m (sprot)

description: A large ribosomal subunit protein bL34m that is encoded in the genome of human.


skull neoplasm

description: A benign or malignant neoplasm that affects the bones and structures of the skull.


name: ETFR1_HUMAN Electron transfer flavoprotein regulatory factor 1 (sprot)

description: An electron transfer flavoprotein regulatory factor 1 that is encoded in the genome of human.


monostotic fibrous dysplasia

description: Fibrous dysplasia of bone involving only one bone.


name: SMAGP_HUMAN Small cell adhesion glycoprotein (sprot)

description: A small transmembrane and glycosylated protein that is encoded in the genome of human.


hiatus hernia

description: Herniation of the upper part of the stomach through the diaphragm.


name: NXRD1_HUMAN NADP-dependent oxidoreductase domain-containing protein 1 (sprot)

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


fatty acid methyl ester

A fatty acid ester that is the carboxylic ester obtained by the formal condensation of a fatty acid with methanol.


putative protein CRIPAK (human)

A putative protein CRIPAK that is encoded in the genome of human.


Moderately reduced visual acuity

description: Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.


cervical disk degenerative disorder

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


name: CAH12_HUMAN Carbonic anhydrase 12 (sprot)

description: A carbonic anhydrase 12 that is encoded in the genome of human.


Late onset atopic dermatitis

description: A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


Anetoderma

description: Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


name: RNF44_HUMAN RING finger protein 44 (sprot)

description: A RING finger protein 44 that is encoded in the genome of human.


trypanosomiasis

description: Infection with protozoa of the genus trypanosoma.


self-healing collodion baby

description: Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.


thyroid hypoplasia

description: Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


name: IQEC3_HUMAN IQ motif and SEC7 domain-containing protein 3 (sprot)

description: An IQ motif and SEC7 domain-containing protein 3 that is encoded in the genome of human.


name: KAD5_HUMAN Adenylate kinase isoenzyme 5 (sprot)

description: An adenylate kinase isoenzyme 5 that is encoded in the genome of human.


name: ZN382_HUMAN Zinc finger protein 382 (sprot)

description: A zinc finger protein 382 that is encoded in the genome of human.


DIHYDROKAEMPFEROL

A tetrahydroxyflavanone having hydroxy groupa at the 3-, 4'-, 5- and 7-positions.


name: ACBD7_HUMAN Acyl-CoA-binding domain-containing protein 7 (sprot)

description: An acyl-CoA-binding domain-containing protein 7 that is encoded in the genome of human.


name: MEGF6_HUMAN Multiple epidermal growth factor-like domains protein 6 (sprot)

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


plantar wart

description: A wart in the plantar surface of the foot. It is caused by human papillomavirus.


name: RBM33_HUMAN RNA-binding protein 33 (sprot)

description: An RNA-binding protein 33 that is encoded in the genome of human.


name: T2AG_HUMAN Transcription initiation factor IIA subunit 2 (sprot)

description: A transcription initiation factor IIA subunit 2 that is encoded in the genome of human.


bruxism

description: Excessive clenching of the jaw and grinding of the teeth.


betamethasone dipropionate

A steroid ester that is betamethasone in which the hydroxy hydrogens at positions 17 and 21 are replaced by propanoyl groups. It is used in combination with calcipotriene hydrate, a synthetic vitamin D analogue, for the topical treatment of plaque psoriasis in adult patients.


name: RPP40_HUMAN Ribonuclease P protein subunit p40 (sprot)

description: A ribonuclease P protein subunit p40 that is encoded in the genome of human.


Recurrent candida infections

description: An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.


S-substituted glutathione

A glutathione derivative that is glutathione in which the hydrogen of the thiol has been replaced by any other group.


Rotor syndrome

description: Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.


neuroacanthocytosis

description: Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.


trachea carcinoma

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


Tinnitus

description: Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.


amyotrophic lateral sclerosis type 5

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.


name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

description: Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.


name: TRIPB_HUMAN Thyroid receptor-interacting protein 11 (sprot)

description: A thyroid receptor-interacting protein 11 that is encoded in the genome of human.


name: LCE3A_HUMAN Late cornified envelope protein 3A (sprot)

description: A late cornified envelope protein 3A that is encoded in the genome of human.


name: TKTL2_HUMAN Transketolase-like protein 2 (sprot)

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


name: DHR12_HUMAN Dehydrogenase/reductase SDR family member 12 (sprot)

description: A dehydrogenase/reductase SDR family member 12 that is encoded in the genome of human.


testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.


GLUFOSINATE

A non-proteinogenic alpha-amino acid that is 2-aminobutanoic acid which is substituted at position 4 by a hydroxy(methyl)phosphoryl group.


Muscle spasm

description: Sudden and involuntary contractions of one or more muscles.


Maculopapular exanthema

description: A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.


A trichlorobenzene with chloro substituents at positions 1, 2 and 4.


Fanconi anemia complementation group D1

description: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


name: AP3M2_HUMAN AP-3 complex subunit mu-2 (sprot)

description: An AP-3 complex subunit mu-2 that is encoded in the genome of human.


name: PMGT1_HUMAN Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (sprot)

description: A protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 that is encoded in the genome of human.


name: SAM12_HUMAN Sterile alpha motif domain-containing protein 12 (sprot)

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


5-methylcytidine 5'-monophosphate

A pyrimidine ribonucleoside 5'-monophosphate having 5-methylcytosine as the nucleobase.


ACETOSYRINGONE

A member of the class of  acetophenones that is 1-phenylethanone substituted by a hydroxy group at position 4 and methoxy groups at positions 3 and 5.


SYRINGARESINOL

The (7alpha,7'alpha,8alpha,8'alpha)-stereoisomer of syringaresinol.


name: congenital muscular dystrophy due to LMNA mutation

description: Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.


A sesquiterpenoid that is zerumbone substituted by a hydroxy group at position 5. Isolated from the rhizomes Zingiber zerumbet, it has been found to inhibit lipopolysaccharide-induced nitric oxide production.


Cerebellar gliosis

description: Focal proliferation of glial cells in the cerebellum.


Violent behavior

description: Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.


ETHYLMALONATE

A dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group.


name: HVD34_HUMAN Immunoglobulin heavy variable 4-30-4 (sprot)

description: A protein that is a translation product of the IGHV4-30-4 gene in human.


name: LIRA1_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 1 (sprot)

description: A leukocyte immunoglobulin-like receptor subfamily A member 1 that is encoded in the genome of human.


eustachian tube disorder

description: A disease involving the pharyngotympanic tube.


name: KCQ1D_HUMAN KCNQ1 downstream neighbor protein (sprot)

description: A KCNQ1 downstream neighbor protein that is encoded in the genome of human.


Marshall-Smith syndrome

description: Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.


CSC

Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group.


larynx squamous papilloma

description: A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.


name: PDD2L_HUMAN Programmed cell death protein 2-like (sprot)

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


GA2L1_HUMAN GAS2-like protein 1 (sprot)

A GAS2-like protein 1 that is encoded in the genome of human.


juvenile hormone III acid

A member of the juvenile hormone family of compounds obtained by formal hydrolysis of the methyl ester group of juvenile hormone III.


pulmonary embolism

description: The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.


name: CT452_HUMAN Cancer/testis antigen family 45 member A2 (sprot)

description: A cancer/testis antigen family 45 member A2 that is encoded in the genome of human.


splitomicin

A benzochromenone that is 2,3-dihydro-1H-benzo[f]chromene substituted by an oxo group at position 3. It has been found to exhibit potential inhibitory activity against Sir2 proteins.


CLD17_HUMAN Claudin-17 (sprot)

A claudin-17 that is encoded in the genome of human.


name: UTP4_HUMAN U3 small nucleolar RNA-associated protein 4 homolog (sprot)

description: A U3 small nucleolar RNA-associated protein 4 homolog that is encoded in the genome of human.


name: SP2_HUMAN Transcription factor Sp2 (sprot)

description: A transcription factor Sp2 that is encoded in the genome of human.


description: X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.


carveol

A limonene monoterpenoid that is cyclohex-2-en-1-ol substituted by a methyl group at position 2 and a prop-1-en-2-yl group at position 5.


skin pigmentation disorder

description: A pigmentation disease that involves the zone of skin.


isolated craniosynostosis

description: A craniosynostosis that is not part of a larger syndrome.


name: MUCL3_HUMAN Mucin-like protein 3 (sprot)

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


name: FAKD3_HUMAN FAST kinase domain-containing protein 3, mitochondrial (sprot)

description: A FAST kinase domain-containing protein 3, mitochondrial that is encoded in the genome of human.


lipid A (E. coli)

The glycolipid moiety of the lipopolysaccharide produced by E. coli.


name: PAGE3_HUMAN P antigen family member 3 (sprot)

description: A G antigen family D member 1 that is encoded in the genome of human.


name: COPE_HUMAN Coatomer subunit epsilon (sprot)

description: A coatomer subunit epsilon that is encoded in the genome of human.


D108B_HUMAN Beta-defensin 108B (sprot)

A beta-defensin 108B that is encoded in the genome of human.


intestinal hypomagnesemia 1

description: Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.


caesium chloride

The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions.


PCLO_HUMAN Protein piccolo (sprot)

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


name: ASB6_HUMAN Ankyrin repeat and SOCS box protein 6 (sprot)

description: An ankyrin repeat and SOCS box protein 6 that is encoded in the genome of human.


(12Z)-10-hydroxyoctadec-12-enoic acid

An octadecenoic acid that is (12Z)-octadec-12-enoic acid substituted by a hydroxy group at position 10. It is a metabolite of linoleic acid produced by the gut lactic acid bacterium Lactobacillus plantarum.


name: OX26_HUMAN Orexigenic neuropeptide QRFP (sprot)

description: An orexigenic neuropeptide QRFP that is encoded in the genome of human.


atransferrinemia

description: Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


name: ARL5A_HUMAN ADP-ribosylation factor-like protein 5A (sprot)

description: An ADP-ribosylation factor-like protein 5A that is encoded in the genome of human.


name: QCR10_HUMAN Cytochrome b-c1 complex subunit 10 (sprot)

description: A cytochrome b-c1 complex subunit 10 that is encoded in the genome of human.


name: LRC39_HUMAN Leucine-rich repeat-containing protein 39 (sprot)

description: A leucine-rich repeat-containing protein 39 that is encoded in the genome of human.


name: GIMA8_HUMAN GTPase IMAP family member 8 (sprot)

description: A GTPase IMAP family member 8 that is encoded in the genome of human.


childhood malignant melanoma

description: A melanoma that occurs during childhood.


name: TMX4_HUMAN Thioredoxin-related transmembrane protein 4 (sprot)

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


PRAVASTATIN SODIUM

An organic sodium salt that is the sodium salt of pravastatin. A reversible inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA), it is used for lowering cholesterol and preventing cardiovascular disease. It is one of the lower potency statins, but has the advantage of fewer side effects compared with lovastatin and simvastatin.


acquired pituitary hormone deficiency

description: An instance of hypopituitarism that is acquired during the lifetime of the individual.


PHENYL DIHYDROGEN PHOSPHATE

An aryl phosphate resulting from the mono-esterification of phosphoric acid with phenol.


name: HAUS1_HUMAN HAUS augmin-like complex subunit 1 (sprot)

description: A HAUS augmin-like complex subunit 1 that is encoded in the genome of human.


P5CS deficiency

description: An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.


name: CDHR1_HUMAN Cadherin-related family member 1 (sprot)

description: A cadherin-related family member 1 that is encoded in the genome of human.


name: ZSC10_HUMAN Zinc finger and SCAN domain-containing protein 10 (sprot)

description: A zinc finger and SCAN domain-containing protein 10 that is encoded in the genome of human.


name: MASU1_HUMAN Mitochondrial assembly of ribosomal large subunit protein 1 (sprot)

description: A mitochondrial assembly of ribosomal large subunit protein 1 that is encoded in the genome of human.


Percussion myotonia

description: A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).


pica disease

description: An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.


name: SFT2C_HUMAN Vesicle transport protein SFT2C (sprot)

description: A vesicle transport protein SFT2C that is encoded in the genome of human.


common wart

description: A wart caused by human papillomavirus. It can appear anywhere on the skin.


Irritability

description: A proneness to anger, i.e., a tendency to become easily bothered or annoyed.


name: TEDC2_HUMAN Tubulin epsilon and delta complex protein 2 (sprot)

description: A tubulin epsilon and delta complex protein 2 that is encoded in the genome of human.


name: HTSF1_HUMAN 17S U2 SnRNP complex component HTATSF1 (sprot)

description: A 17S U2 SnRNP complex component HTATSF1 that is encoded in the genome of human.


Cerebral artery atherosclerosis

description: The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


name: NXF3_HUMAN Nuclear RNA export factor 3 (sprot)

description: A nuclear RNA export factor 3 that is encoded in the genome of human.


intermediate DEND syndrome

description: Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.


parasagittal meningioma

description: A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.


name: COX8C_HUMAN Cytochrome c oxidase subunit 8C, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 8C, mitochondrial that is encoded in the genome of human.


Bicarbonaturia

description: Abnormally increased concentration of hydrogencarbonate in the urine.


IFN10_HUMAN Interferon alpha-10 (sprot)

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


oculocutaneous albinism type 2

description: Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.


8-aminooctanoic acid

An omega-amino fatty acid that is octanoic acid which carries an amino group at position 8.


A hydroxytoluene that is phenol substituted by amino and methyl groups at positions 2 and 4, respectively. It is a metabolite of disperse yellow 3.


name: RETR3_HUMAN Reticulophagy regulator 3 (sprot)

description: A reticulophagy regulator 3 that is encoded in the genome of human.


name: NKX24_HUMAN Homeobox protein Nkx-2.4 (sprot)

description: A homeobox protein Nkx-2.4 that is encoded in the genome of human.


Mauriac syndrome

description: A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.


Abnormality of the cervical spine

description: Any abnormality of the cervical vertebral column.


name: autosomal recessive spinocerebellar ataxia 16

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.


Brill-Zinsser disease

description: A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.


SYVC_HUMAN Valine--tRNA ligase (sprot)

A valine--tRNA ligase that is encoded in the genome of human.


name: GOG7B_HUMAN Golgin subfamily A member 7B (sprot)

description: A golgin subfamily A member 7B that is encoded in the genome of human.


name: neonatal diabetes mellitus with congenital hypothyroidism

description: A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others


amrubicinol

A diastereoisomeric mixture resulting from the formal reduction of the acetyl group at position 9 of amrubicin to the corresponding 1-hydroxyethyl group. The active metabolite of amrubicin in lung cancer patients.


mucopolysaccharidosis type 4A

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.


smooth muscle tumor

description: A benign or malignant myomatous neoplasm arising from smooth muscle.


name: ARLY_HUMAN Argininosuccinate lyase (sprot)

description: An argininosuccinate lyase that is encoded in the genome of human.


name: PRR12_HUMAN Proline-rich protein 12 (sprot)

description: A proline-rich protein 12 that is encoded in the genome of human.


pulmonary vein leiomyosarcoma

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


name: TM204_HUMAN Transmembrane protein 204 (sprot)

description: A transmembrane protein 204 that is encoded in the genome of human.


bacampicillin

A penicillanic acid ester that is the 1-ethoxycarbonyloxyethyl ester of ampicillin. It is a semi-synthetic, microbiologically inactive prodrug of ampicillin.


name: ACADL_HUMAN Long-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)

description: A long-chain specific acyl-CoA dehydrogenase, mitochondrial that is encoded in the genome of human.


adenomatoid odontogenic tumor

description: A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.


name: ASTER_HUMAN PAT complex subunit Asterix (sprot)

description: A PAT complex subunit Asterix that is encoded in the genome of human.


name: ZCRB1_HUMAN Zinc finger CCHC-type and RNA-binding motif-containing protein 1 (sprot)

description: A zinc finger CCHC-type and RNA-binding motif-containing protein 1 that is encoded in the genome of human.


lacrimal gland neoplasm

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


name: TBC30_HUMAN TBC1 domain family member 30 (sprot)

description: A TBC1 domain family member 30 that is encoded in the genome of human.


name: ACH10_HUMAN Neuronal acetylcholine receptor subunit alpha-10 (sprot)

description: A neuronal acetylcholine receptor subunit alpha-10 that is encoded in the genome of human.


Chronic villitis

description: Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.


Renal tubular cyst

description: Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.


ouabagenin

A hexahydroxy steroidal lactone obtained by hydrolysis of ouabain.


name: KVD13_HUMAN Immunoglobulin kappa variable 1D-13 (sprot)

description: A protein that is a translation product of the IGKV1D-13 gene in human.


Palmar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand.


alpha-2-plasmin inhibitor deficiency

description: Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.


DELPHINIDIN CHLORIDE

An anthocyanidin chloride that has delphinidin as the cationic counterpart.


(+)-makassaric acid

A meroterpenoid isolated from the marine sponge Acanthodendrilla sp. It exhibits inhibitory activity against the enzyme mitogen-activated protein kinase-activated protein kinase 2 (EC 2.7.11.1).


name: CBAR1_HUMAN CBY1-interacting BAR domain-containing protein 1 (sprot)

description: A CBY1-interacting BAR domain-containing protein 1 that is encoded in the genome of human.


APOL5_HUMAN Apolipoprotein L5 (sprot)

An apolipoprotein L5 that is encoded in the genome of human.


cis,cis-muconic acid

The cis,cis-isomer of  muconic acid. It is produced during the degradation of chlorobenzene by bacteria like Bacillus.


carcinoma of lip

description: A carcinoma that involves the lip.


name: GCDH_HUMAN Glutaryl-CoA dehydrogenase, mitochondrial (sprot)

description: A glutaryl-CoA dehydrogenase, mitochondrial that is encoded in the genome of human.


hypermanganesemia with dystonia 2

description: Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.


exstrophy-epispadias complex

description: A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.


name: light and heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy and light chains deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


fundus albipunctatus

description: Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


hibernoma

description: A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.


name: DR9C7_HUMAN Short-chain dehydrogenase/reductase family 9C member 7 (sprot)

description: A short-chain dehydrogenase/reductase family 9C member 7 that is encoded in the genome of human.


Usher syndrome type 1

description: A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.


anaplasmosis

description: A disease or disorder caused by infection with Anaplasma.


name: GFOD2_HUMAN Glucose-fructose oxidoreductase domain-containing protein 2 (sprot)

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


inflammatory bowel disease 5

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.


name: ZNG1A_HUMAN Zinc-regulated GTPase metalloprotein activator 1A (sprot)

description: A zinc-regulated GTPase metalloprotein activator 1A that is encoded in the genome of human.


metampicillin

A penicillin compound having a 6beta-(2R)-2-(methylideneamino)-2-phenylacetamido side-group.


Moderate hypermetropia

description: A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.


ESPNL_HUMAN Espin-like protein (sprot)

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


Niemann-Pick disease, type C2

description: Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.


3-hydroxytetradecanoic acid

A 3-hydroxy fatty acid that is tetradecanoic (myristic) acid substituted at position 3 by a hydroxy group


Cough

description: A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.


name: FAIM1_HUMAN Fas apoptotic inhibitory molecule 1 (sprot)

description: A Fas apoptotic inhibitory molecule 1 that is encoded in the genome of human.


name: ZFP92_HUMAN Zinc finger protein 92 homolog (sprot)

description: A zinc finger protein 92 homolog that is encoded in the genome of human.


name: IGSF2_HUMAN Immunoglobulin superfamily member 2 (sprot)

description: An immunoglobulin superfamily member 2 that is encoded in the genome of human.


amyotrophic lateral sclerosis type 4

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.


SOTALOL HYDROCHLORIDE

A hydrochloride salt that is the monohydrochloride of sotalol. It has both beta-adrenoreceptor blocking (Vaughan Williams Class II) and cardiac action potential duration prolongation (Vaughan Williams Class III) antiarrhythmic properties. It is used (usually as the hydrochloride salt) for the management of ventricular and supraventricular arrhythmias.


bartholin gland carcinoma

description: A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.


name: GDPD4_HUMAN Glycerophosphodiester phosphodiesterase domain-containing protein 4 (sprot)

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


cutaneous botryomycosis

description: A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).


dihydropyrimidinuria

description: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


tibial adamantinoma

description: An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).


AINX_HUMAN Alpha-internexin (sprot)

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


name: CO9A3_HUMAN Collagen alpha-3(IX) chain (sprot)

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


name: DCA10_HUMAN DDB1- and CUL4-associated factor 10 (sprot)

description: A DDB1- and CUL4-associated factor 10 that is encoded in the genome of human.


erysipelas

description: An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.


anterior compartment of tibia syndrome

description: Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.


thyrotoxic periodic paralysis

description: Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.


name: O2AT4_HUMAN Olfactory receptor 2AT4 (sprot)

description: An olfactory receptor 2AT4 that is encoded in the genome of human.


renal cysts and diabetes syndrome

description: Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.


intestinal lymphangiectasia

description: Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.


N-arachidonyl-γ-aminobutyric acid

An N-acyl-gamma-aminobutyric acid resulting from the formal condensation of the amino group of gamma-aminobutyric acid with the carboxy group of arachidonic acid.


premature aging syndrome

description: Changes in the organism associated with senescence, occurring at an accelerated rate.