chondroblastoma

description: A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.


name: AGRA2_HUMAN Adhesion G protein-coupled receptor A2 (sprot)

description: An adhesion G protein-coupled receptor A2 that is encoded in the genome of human.


name: GPTC3_HUMAN G patch domain-containing protein 3 (sprot)

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


traumatic encephalopathy

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

description: Encephalopathy resulting from trauma.


name: CHST8_HUMAN Carbohydrate sulfotransferase 8 (sprot)

description: A carbohydrate sulfotransferase 8 that is encoded in the genome of human.


name: GIPC3_HUMAN PDZ domain-containing protein GIPC3 (sprot)

description: A PDZ domain-containing protein GIPC3 that is encoded in the genome of human.


Cyclopia

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

description: Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.


Ballooning hepatocyte degeneration

description: Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.


name: SPG17_HUMAN Sperm-associated antigen 17 (sprot)

description: A sperm-associated antigen 17 that is encoded in the genome of human.


mucinous adenocarcinoma of the appendix

description: Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.


name: GUC1B_HUMAN Guanylyl cyclase-activating protein 2 (sprot)

description: A guanylyl cyclase-activating protein 2 that is encoded in the genome of human.


name: CTU2_HUMAN Cytoplasmic tRNA 2-thiolation protein 2 (sprot)

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


azatadine

A benzo[5,6]cyclohepta[1,2-b]pyridine having a 1-methylpiperidin-4-ylidene group at the 11-position.


description: ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).


name: KCNH5_HUMAN Potassium voltage-gated channel subfamily H member 5 (sprot)

description: A voltage-gated potassium channel KCNH5 that is encoded in the genome of human.


progressive muscular atrophy

description: A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.


name: RUXE_HUMAN Small nuclear ribonucleoprotein E (sprot)

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


name: HLTF_HUMAN Helicase-like transcription factor (sprot)

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


name: KT33B_HUMAN Keratin, type I cuticular Ha3-II (sprot)

description: A keratin, type I cuticular Ha3-II that is encoded in the genome of human.


name: PHYD1_HUMAN Phytanoyl-CoA dioxygenase domain-containing protein 1 (sprot)

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


Floating-Harbor syndrome

description: Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.


name: SLF2_HUMAN SMC5-SMC6 complex localization factor protein 2 (sprot)

description: An SMC5-SMC6 complex localization factor protein 2 that is encoded in the genome of human.


name: OR8J1_HUMAN Olfactory receptor 8J1 (sprot)

description: An olfactory receptor 8J1 that is encoded in the genome of human.


name: CCD50_HUMAN Coiled-coil domain-containing protein 50 (sprot)

description: A coiled-coil domain-containing protein 50 that is encoded in the genome of human.


name: SAXO2_HUMAN Stabilizer of axonemal microtubules 2 (sprot)

description: A stabilizer of axonemal microtubules 2 that is encoded in the genome of human.


severe pre-eclampsia

description: Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.


variant Creutzfeldt-Jakob disease

description: A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


name: MET2A_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL2A (sprot)

description: A tRNA N(3)-methylcytidine methyltransferase METTL2A that is encoded in the genome of human.


name: GASP2_HUMAN G-protein coupled receptor-associated sorting protein 2 (sprot)

description: A G-protein coupled receptor-associated sorting protein 2 that is encoded in the genome of human.


peroneal neuropathy

description: Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)


name: RALY_HUMAN RNA-binding protein Raly (sprot)

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


neonatal candidiasis

description: A fungal infection by any of the Candida species in a newborn infant up to 28 days old.


migraine with brainstem aura

description: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.


keloid

description: An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.


metachronous kidney Wilms' tumor

description: Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.


glycylsarcosine

A dipeptide obtained by formal condensation of the carboxy group of glycine with the amino group of sarcosine.


desmoplastic infantile ganglioglioma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


pulmonary valve insufficiency

description: Dysfunction of the pulmonary valve characterized by incomplete valve closure.


name: GBG3_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 that is encoded in the genome of human.


hyperkeratosis lenticularis perstans

description: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.


name: LCN10_HUMAN Epididymal-specific lipocalin-10 (sprot)

description: An epididymal-specific lipocalin-10 that is encoded in the genome of human.


alopecia mucinosa

description: A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.


neoplasm of oropharynx

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


name: NRIP2_HUMAN Nuclear receptor-interacting protein 2 (sprot)

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


name: RFPL3_HUMAN Ret finger protein-like 3 (sprot)

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


name: H2B1M_HUMAN Histone H2B type 1-M (sprot)

description: A histone H2B type 1-M that is encoded in the genome of human.


adult medulloblastoma

description: A medulloblastoma arising from the brain, occurring in adults.


name: CBPC4_HUMAN Cytosolic carboxypeptidase 4 (sprot)

description: A cytosolic carboxypeptidase 4 that is encoded in the genome of human.


name: OGRL1_HUMAN Opioid growth factor receptor-like protein 1 (sprot)

description: An opioid growth factor receptor-like protein 1 that is encoded in the genome of human.


name: IFI27_HUMAN Interferon alpha-inducible protein 27, mitochondrial (sprot)

description: An interferon alpha-inducible protein 27 that is encoded in the genome of human.


MEPIVACAINE HYDROCHLORIDE

The hydrochloride salt of mepivacaine. It is used as a local anaesthetic.


description: An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.


name: attenuated familial adenomatous polyposis

description: Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.


name: CP39A_HUMAN 24-hydroxycholesterol 7-alpha-hydroxylase (sprot)

description: A cytochrome P450 39A1 that is encoded in the genome of human.


name: T-B+ severe combined immunodeficiency due to gamma chain deficiency

description: Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.


name: MOFA1_HUMAN MORF4 family-associated protein 1 (sprot)

description: A MORF4 family-associated protein 1 that is encoded in the genome of human.


name: H6ST1_HUMAN Heparan-sulfate 6-O-sulfotransferase 1 (sprot)

description: A heparan-sulfate 6-O-sulfotransferase 1 that is encoded in the genome of human.


manganese dioxide

A manganese molecular entity with formula MnO2.


name: KCMB4_HUMAN Calcium-activated potassium channel subunit beta-4 (sprot)

description: A calcium-activated potassium channel subunit beta-4 that is encoded in the genome of human.


name: CHST9_HUMAN Carbohydrate sulfotransferase 9 (sprot)

description: A carbohydrate sulfotransferase 9 that is encoded in the genome of human.


name: FBX21_HUMAN F-box only protein 21 (sprot)

description: An F-box only protein 21 that is encoded in the genome of human.


MEPERIDINE HYDROCHLORIDE

The hydrochloride salt of pethidine. An analgesic used for the treatment of postoperative and labour pain.


mycophenolate

A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of mycophenolic acid.


multifocal osteogenic sarcoma

description: A primary bone osteosarcoma affecting multiple bone sites.


Aicardi syndrome

description: Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.


lichen planus, oral

description: A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.


name: RERE_HUMAN Arginine-glutamic acid dipeptide repeats protein (sprot)

description: An arginine-glutamic acid dipeptide repeats protein that is encoded in the genome of human.


Athetosis

description: A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.


small intestine cancer

description: A primary or metastatic malignant neoplasm involving the small intestine.


9-anthroic acid

An anthroic acid carrying the carboxy substituent at position 9.


Macular dystrophy

description: Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.


childhood brain stem glioma

description: An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.


name: T53G5_HUMAN TP53-target gene 5 protein (sprot)

description: A TP53-target gene 5 protein that is encoded in the genome of human.


gastric mucosal hypertrophy

description: A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.


name: USF3_HUMAN Basic helix-loop-helix domain-containing protein USF3 (sprot)

description: A protein that is a translation product of the USF3 gene in human.


gliofibroma

description: An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).


name: VPS53_HUMAN Vacuolar protein sorting-associated protein 53 homolog (sprot)

description: A vacuolar protein sorting-associated protein 53 that is encoded in the genome of human.


VEDELIANIN

A stilbenoid derivative isolated from Macaranga alnifolia and Macaranga alnifolia and has been shown to exhibit cytotoxic activity.


solitary bone cyst

description: A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.


LIPN_HUMAN Lipase member N (sprot)

A lipase member N that is encoded in the genome of human.


name: telangiectasia, hereditary hemorrhagic, type 1


degenerative myopia

description: Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.


disorder of ear

description: A disease that involves the ear.


palmitelaidic acid

A straight-chain, monounsaturated, 16-carbon fatty acid with a trans-double bond at position C-9; the trans-isomer of palmitoleic acid and predominant trans-16:1 isomer in cheeses from goat and ewe milk. Major dietary sources are partly hydrogenated vegetable oils.


name: ANGE2_HUMAN Protein angel homolog 2 (sprot)

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


name: S46A3_HUMAN Lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 (sprot)

description: A lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 that is encoded in the genome of human.


name: TMT1B_HUMAN Thiol S-methyltransferase TMT1B (sprot)

description: A thiol S-methyltransferase TMT1B that is encoded in the genome of human.


ethylene glycol dimethacrylate

The enoate ester that is the 1,2-bis(methacryloyl) derivative of ethylene glycol.


NXPH3_HUMAN Neurexophilin-3 (sprot)

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


name: CNIH3_HUMAN Protein cornichon homolog 3 (sprot)

description: A protein cornichon homolog 3 that is encoded in the genome of human.


name: DHH_HUMAN Desert hedgehog protein (sprot)

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


Huntington disease-like 1

description: Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.


syndromic agammaglobulinemia

description: A agammaglobulinemia that is part of a larger syndrome.


name: INHBE_HUMAN Inhibin beta E chain (sprot)

description: An activin/inhibin beta E chain that is encoded in the genome of human.


His bundle tachycardia

description: His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.


vaginal neoplasm

description: A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.


name: TTC22_HUMAN Tetratricopeptide repeat protein 22 (sprot)

description: A tetratricopeptide repeat protein 22 that is encoded in the genome of human.


HYDROCHLORTHIAZIDE

An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom.


postaxial acrofacial dysostosis

description: Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.


skeletal tuberculosis

description: Tuberculosis of the bones or joints.


SNTB1_HUMAN Beta-1-syntrophin (sprot)

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


Retinal neovascularization

description: In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.


name: FUT6_HUMAN 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 (sprot)

description: A 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 that is encoded in the genome of human.


motion sickness

description: A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.


name: RT10_HUMAN Small ribosomal subunit protein uS10m (sprot)

description: A small ribosomal subunit protein uS10m that is encoded in the genome of human.


name: KLDC1_HUMAN Kelch domain-containing protein 1 (sprot)

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


name: ISK13_HUMAN Serine protease inhibitor Kazal-type 13 (sprot)

description: A serine protease inhibitor Kazal-type 13 that is encoded in the genome of human.


tarsal tunnel syndrome

description: Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.


L-2-hydroxyglutaric aciduria

description: L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.


name: GRCR2_HUMAN Glutaredoxin domain-containing cysteine-rich protein 2 (sprot)

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


ALOGLIPTIN BENZOATE

A benzoate salt obtained by combining equimolar amounts of alogliptin and benzoic acid. Used for treatment of type 2 diabetes.


name: NKAI2_HUMAN Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 (sprot)

description: A sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 that is encoded in the genome of human.


name: AP2A2_HUMAN AP-2 complex subunit alpha-2 (sprot)

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


name: NDUB4_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 that is encoded in the genome of human.


Venezuelan hemorrhagic fever

description: Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.


TECT1_HUMAN Tectonic-1 (sprot)

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


m-hydroxyhippuric acid

An N-acylglycine that is hippuric acid (N-benzoylglycine) substituted at position 3 on the phenyl ring by a hydroxy group.


name: INSL4_HUMAN Early placenta insulin-like peptide (sprot)

description: An early placenta insulin-like peptide that is encoded in the genome of human.


12-hydroxylauric acid

A medium-chain fatty acid that is the 12-hydroxylated derivative of lauric acid.


name: 3-(3,5-Dimethoxyphenyl)-2-(4-(4-(2,4-dioxothiazolidin-5-ylmethyl)-phenoxy)-phenyl)-acrylic acid methyl ester


name: DDX54_HUMAN ATP-dependent RNA helicase DDX54 (sprot)

description: An ATP-dependent RNA helicase DDX54 that is encoded in the genome of human.


name: LRC4C_HUMAN Leucine-rich repeat-containing protein 4C (sprot)

description: A netrin-G1 ligand that is encoded in the genome of human.


name: renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

description: A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.


Myoclonic status epilepticus with coma

description: A type of myoclonic status epilepticus in the presence of coma.


Bosley-Salih-Alorainy syndrome

description: Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.


name: MA7D3_HUMAN MAP7 domain-containing protein 3 (sprot)

description: A MAP7 domain-containing protein 3 that is encoded in the genome of human.


name: FHI1B_HUMAN FHF complex subunit HOOK-interacting protein 1B (sprot)

description: An FHF complex subunit HOOK-interacting protein 1B that is encoded in the genome of human.


chronic rhinitis

description: Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.


potassium oxide

A metal oxide with formula K2O.


name: MEP50_HUMAN Methylosome protein WDR77 (sprot)

description: A methylosome protein WDR77 that is encoded in the genome of human.


diphthamide

A  quaternary ammonium ion that is the derivative of L-histidine having a 4-amino-4-oxo-3-(trimethylammonio)butyl group at the 2-position of the imidazole ring.


CAD10_HUMAN Cadherin-10 (sprot)

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


timolol

1,2,5-Thiadiazole substituted at the 3 position by a 3-(tert-butylamino)-2-hydroxypropoxy group and at the 4 position by a morpholin-4-yl group. The (S)-(-) enantiomer, also known as timolol, is a beta-adrenergic antagonist and is used in the mangement of glaucoma, hypertension, angina pectoris and myocardial infarction, and for the prevention of migraine.


name: FWCH1_HUMAN FLYWCH-type zinc finger-containing protein 1 (sprot)

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


osteoporosis-pseudoglioma syndrome

description: Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.


name: LITD1_HUMAN LINE-1 type transposase domain-containing protein 1 (sprot)

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


name: THTR_HUMAN Thiosulfate sulfurtransferase (sprot)

description: A thiosulfate sulfurtransferase that is encoded in the genome of human.


acquired central diabetes insipidus

description: Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.


name: S35A3_HUMAN UDP-N-acetylglucosamine transporter (sprot)

description: A UDP-N-acetylglucosamine transporter that is encoded in the genome of human.


A primary amino compound that is ethane-1,2-diamine in which the hydrogen on one of the amino groups is replaced by a 2-(aziridin-1-yl)ethyl group. It is a angiotensin-converting enzyme 2 (ACE2) inhibitor and a potential therapeutic agent for treating SARS coronavirus infections.


SSX5_HUMAN Protein SSX5 (sprot)

A protein SSX5 that is encoded in the genome of human.


name: XIRP1_HUMAN Xin actin-binding repeat-containing protein 1 (sprot)

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


complex endometrial hyperplasia

description: A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.


Severe adenovirus infection

description: An unusually severe adenovirus infection.


chloroacetaldehyde

Acetaldehyde substituted at C-2 by chlorine.


name: KCTD2_HUMAN BTB/POZ domain-containing protein KCTD2 (sprot)

description: A BTB/POZ domain-containing protein KCTD2 that is encoded in the genome of human.


alendronate sodium trihydrate

A hydride that is the trihydrate of alendronate sodium


BUSPIRONE HYDROCHLORIDE

A hydrochloride salt resulting from the reaction of equimolar amounts of buspirone and hydrogen chloride.


F161A_HUMAN Protein FAM161A (sprot)

A protein FAM161A that is encoded in the genome of human.


low grade fibromyxoid sarcoma

description: A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.


name: Fibrotic non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.


name: T2R39_HUMAN Taste receptor type 2 member 39 (sprot)

description: A taste receptor type 2 member 39/139 that is encoded in the genome of human.


potassium deficiency

description: A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)


HIPL2_HUMAN HHIP-like protein 2 (sprot)

An HHIP-like protein 2 that is encoded in the genome of human.


acute quadriplegic myopathy

description: Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.


An aralkylamine that is Nbenzylacetamidine substituted at position 3 on the benzene ring by an aminomethyl group. An inhibitor of nitric oxide synthase.


late-onset retinal degeneration

description: Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.


Genital neoplasm

description: A tumor (abnormal growth of tissue) of the genital system.


perylene

An ortho- and peri-fused polycyclic arene comprising of five benzene rings that is anthracene in which the d,e and k,l sides are fused to benzene rings.


name: UAP1_HUMAN UDP-N-acetylhexosamine pyrophosphorylase (sprot)

description: A UDP-N-acetylhexosamine pyrophosphorylase that is encoded in the genome of human.


lethal congenital contracture syndrome

description: A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.


PATEAMINE A

A marine macrodiolide that is isolated from the sponge Mycale hentscheli and exhibits anticancer and antiviral properties


name: IF2GL_HUMAN Eukaryotic translation initiation factor 2 subunit 3B (sprot)

description: A protein that is a translation product of the EIF2S3B gene in human.


optic perineuritis

description: A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.


aldrithiol

A member of the class of pyridines that is pyridine which is substituted by a pyridin-2-yldisulfanediyl group at position 2. It is a reagent used in molecular biology as an oxidizing agent. Also used in peptide synthesis and for detecting thiols.


name: ELP4_HUMAN Elongator complex protein 4 (sprot)

description: An elongator complex protein 4 that is encoded in the genome of human.


SEM4F_HUMAN Semaphorin-4F (sprot)

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


name: CABYR_HUMAN Calcium-binding tyrosine phosphorylation-regulated protein (sprot)

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


Temporomandibular joint ankylosis

description: Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.


name: LYZL1_HUMAN Lysozyme-like protein 1 (sprot)

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


name: FBX42_HUMAN F-box only protein 42 (sprot)

description: An F-box only protein 42 that is encoded in the genome of human.


paranasal sinus squamous cell carcinoma

description: A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.


anal canal cancer

description: A malignant neoplasm involving the anal canal


name: toxocara canis infection (canine roundworms)


spinal cord lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.


ANO8_HUMAN Anoctamin-8 (sprot)

An anoctamin-8 that is encoded in the genome of human.


name: RRAGD_HUMAN Ras-related GTP-binding protein D (sprot)

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


name: TMM75_HUMAN Putative protein encoded by LINC02912 (sprot)

description: A putative protein encoded by LINC02912 that is encoded in the genome of human.


Frontal cortical atrophy

description: Atrophy of the frontal cortex.


name: ATL3_HUMAN ADAMTS-like protein 3 (sprot)

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


name: PLPP7_HUMAN Inactive phospholipid phosphatase 7 (sprot)

description: An inactive phospholipid phosphatase 7 that is encoded in the genome of human.


laryngeal small cell carcinoma

description: A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.


name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

description: Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.


mumps infectious disease

description: A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.


ANSERINE

A dipeptide comprising of beta-alanine and 3-methyl-L-histidine units.


Hypomimic face

description: A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.


Macular hypopigmentation

description: Decreased amount of pigmentation in the macula lutea.


Abnormality of eye movement

description: An abnormality in voluntary or involuntary eye movements or their control.


presbyopia

description: The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.


Japanese spotted fever

description: A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.


name: SUSD3_HUMAN Sushi domain-containing protein 3 (sprot)

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


name: RS4Y1_HUMAN Small ribosomal subunit protein eS4, Y isoform 1 (sprot)

description: A small ribosomal subunit protein eS4, Y isoform 1 that is encoded in the genome of human.


eating disorder

description: A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.


name: DEND3_HUMAN DENN domain-containing protein 3 (sprot)

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


MYCOPHENOLATE SODIUM

An organic sodium salt that is the sodium salt of mycophenolic acid. An immunosuppressant, it is widely used to prevent tissue rejection following organ transplants and for the treatment of certain autoimmune diseases.


Klippel-Feil syndrome

description: A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.


name: PGBD3_HUMAN PiggyBac transposable element-derived protein 3 (sprot)

description: A piggyBac transposable element-derived protein 3 that is encoded in the genome of human.


name: ZFY26_HUMAN Zinc finger FYVE domain-containing protein 26 (sprot)

description: A zinc finger FYVE domain-containing protein 26 that is encoded in the genome of human.


Gastric hypertrophy

description: Hypertrophy of the stomach.


name: CISD3_HUMAN CDGSH iron-sulfur domain-containing protein 3, mitochondrial (sprot)

description: A CDGSH iron-sulfur domain-containing protein 3, mitochondrial that is encoded in the genome of human.


alpha-methyltryptamine

A tryptamine derivative having a methyl substituent at the alpha-position.


name: TTC28_HUMAN Tetratricopeptide repeat protein 28 (sprot)

description: A tetratricopeptide repeat protein 28 that is encoded in the genome of human.


name: ASIC5_HUMAN Acid-sensing ion channel 5 (sprot)

description: An acid-sensing ion channel 5 that is encoded in the genome of human.


name: hereditary myopathy with lactic acidosis due to ISCU deficiency

description: Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.


juvenile Paget disease

description: Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.


carbinoxamine

An organochlorine compound that is 2-(4-chlorobenzyl)pyridine in which one of the benzylic hydrogens is substituted by 2-(dimethylamino)ethoxy group. It is an ethanolamine-type antihistamine, used as its maleate salt for treating hay fever, as well as mild cases of Parkinson's disease.


name: PKDCC_HUMAN Extracellular tyrosine-protein kinase PKDCC (sprot)

description: An extracellular tyrosine-protein kinase PKDCC that is encoded in the genome of human.


name: chronic enteropathy associated with SLCO2A1 gene


name: H1BP3_HUMAN HCLS1-binding protein 3 (sprot)

description: An HCLS1-binding protein 3 that is encoded in the genome of human.


foscarbidopa

An L-tyrosine derivative that is carbidopa in which the hydroxy group at position 4' is replaced by a phosphonooxy group. It is a water-soluble prodrug of carbidopa which is used for the treatment of Parkinson's disease.


name: FBP12_HUMAN Fatty acid-binding protein 12 (sprot)

description: A fatty acid-binding protein 12 that is encoded in the genome of human.


levobetaxolol

The (S)-enantiomer of betaxolol.


alexia without agraphia

description: Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)


Non-obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


dissociative disorder

description: A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.


juvenile pilocytic astrocytoma

description: A pilocytic astrocytoma that occurs during adolescence.


name: GNAT3_HUMAN Guanine nucleotide-binding protein G(t) subunit alpha-3 (sprot)

description: A guanine nucleotide-binding protein G(t) subunit alpha-3 that is encoded in the genome of human.


name: ARG33_HUMAN Rho guanine nucleotide exchange factor 33 (sprot)

description: A Rho guanine nucleotide exchange factor 33 that is encoded in the genome of human.


name: TM174_HUMAN Transmembrane protein 174 (sprot)

description: A transmembrane protein 174 that is encoded in the genome of human.


name: APLD1_HUMAN Apolipoprotein L domain-containing protein 1 (sprot)

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


name: EMC2_HUMAN ER membrane protein complex subunit 2 (sprot)

description: An ER membrane protein complex subunit 2 that is encoded in the genome of human.


name: UVRAG_HUMAN UV radiation resistance-associated gene protein (sprot)

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


name: GBG5_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 that is encoded in the genome of human.


name: RPAB5_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC5 (sprot)

description: A DNA-directed RNA polymerases I, II, and III subunit RPABC5 that is encoded in the genome of human.


name: GCP4_HUMAN Gamma-tubulin complex component 4 (sprot)

description: A gamma-tubulin complex component 4 that is encoded in the genome of human.


name: CPS4L_HUMAN Putative cleavage and polyadenylation specificity factor subunit 4-like protein (sprot)

description: A putative cleavage and polyadenylation specificity factor subunit 4-like protein that is encoded in the genome of human.


D-alpha-aminobutyric acid

An optically active form of alpha-aminobutyric acid having D-configuration.


telangiectatic osteogenic sarcoma

description: An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.


name: VPRE3_HUMAN Pre-B lymphocyte protein 3 (sprot)

description: A pre-B lymphocyte protein 3 that is encoded in the genome of human.


Profound hearing impairment

description: A profound (essentially complete) form of hearing impairment.


trisomy 18

description: Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.


vitamin D-dependent rickets, type 2

description: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.


name: ZP1_HUMAN Zona pellucida sperm-binding protein 1 (sprot)

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


name: UCKL1_HUMAN Uridine-cytidine kinase-like 1 (sprot)

description: A uridine-cytidine kinase-like 1 that is encoded in the genome of human.


name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

description: A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.


name: DPH7_HUMAN Diphthine methyltransferase (sprot)

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


name: RSMN_HUMAN Small nuclear ribonucleoprotein-associated protein N (sprot)

description: A small nuclear ribonucleoprotein-associated protein N that is encoded in the genome of human.


coronary stenosis

description: Narrowing of the coronary artery lumen diameter.


name: NUA4L_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2 that is encoded in the genome of human.


name: PCDAD_HUMAN Protocadherin alpha-13 (sprot)

description: A protocadherin alpha-13 that is encoded in the genome of human.


name: LRC52_HUMAN Leucine-rich repeat-containing protein 52 (sprot)

description: A leucine-rich repeat-containing protein 52 that is encoded in the genome of human.


name: RWDD3_HUMAN RWD domain-containing protein 3 (sprot)

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


name: LRC3B_HUMAN Leucine-rich repeat-containing protein 3B (sprot)

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


name: GCYB2_HUMAN Guanylate cyclase soluble subunit beta-2 (sprot)

description: A guanylate cyclase soluble subunit beta-2 that is encoded in the genome of human.


name: SYPL2_HUMAN Synaptophysin-like protein 2 (sprot)

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


name: TYW1_HUMAN S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 (sprot)

description: An S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 that is encoded in the genome of human.


D-allothreonine

The D-enantiomer of  allothreonine. It occurs as a component of peptido-lipids in certain bacteria.


OXYCODONE HYDROCHLORIDE

A hydrochloride obtained by reaction of oxycodone with one molar equivalent of hydrochloric acid.  It is a moderately potent opioid analgesic, generally used for relief of moderate to severe pain.


name: MSTN1_HUMAN Musculoskeletal embryonic nuclear protein 1 (sprot)

description: A musculoskeletal embryonic nuclear protein 1 that is encoded in the genome of human.


name: SPEF2_HUMAN Sperm flagellar protein 2 (sprot)

description: A sperm flagellar protein 2 that is encoded in the genome of human.


name: BLK_HUMAN Tyrosine-protein kinase Blk (sprot)

description: A tyrosine-protein kinase BLK that is encoded in the genome of human.


juvenile temporal arteritis

description: Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.


name: BEND2_HUMAN BEN domain-containing protein 2 (sprot)

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


CBPA6_HUMAN Carboxypeptidase A6 (sprot)

A carboxypeptidase A6 that is encoded in the genome of human.


Recurrent encephalopathy

description: Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.


diffuse palmoplantar keratoderma

description: Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.


ITAD_HUMAN Integrin alpha-D (sprot)

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


odontoma

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.


Hypohomocysteinemia

description: A decreased concentration of homocysteine in the blood.


name: K2C71_HUMAN Keratin, type II cytoskeletal 71 (sprot)

description: A keratin, type II cytoskeletal 71 that is encoded in the genome of human.


mild hyperphenylalaninemia

description: Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.


dizocilpine

An organic heterotetracyclic compound that is 1-methyl-8-azabicyclo[3.2.1]octane ortho-fused to two benzene rings at positions 2-3 and 6-7 (the 5S,10R-stereoisomer). It is a non-competitive antagonist of the N-methyl-D-aspartate (NMDA) receptor and affects cognitive function, learning, and memory.


asbestosis

description: A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.


METHYL PHOSPHONATE

A one-carbon compound that is phosphonic acid in which the hydrogen attached to the phosphorus is substituted by a methyl group.


CL16A_HUMAN Protein CLEC16A (sprot)

A protein CLEC16A that is encoded in the genome of human.


name: ZCPW1_HUMAN Zinc finger CW-type PWWP domain protein 1 (sprot)

description: A zinc finger CW-type PWWP domain protein 1 that is encoded in the genome of human.


dodecyl beta-D-maltoside

A glycoside resulting from attachment of a dodecyl group to the reducing-end anomeric centre of a beta-maltose molecule.


name: testicular non-seminomatous germ cell cancer

description: A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.


name: NECA2_HUMAN N-terminal EF-hand calcium-binding protein 2 (sprot)

description: An N-terminal EF-hand calcium-binding protein 2 that is encoded in the genome of human.


hexanoyl-CoA

A medium-chain fatty acyl-CoA having hexanoyl as the S-acyl group.


name: DGKK_HUMAN Diacylglycerol kinase kappa (sprot)

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


A C4-dicarboxylate that is the dianion obtained by the deprotonation of both the carboxy groups of aspartic acid.


name: AT134_HUMAN Probable cation-transporting ATPase 13A4 (sprot)

description: A probable cation-transporting ATPase 13A4 that is encoded in the genome of human.


name: PKHO2_HUMAN Pleckstrin homology domain-containing family O member 2 (sprot)

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


Aicardi-Goutieres syndrome 8

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.


name: CMIP_HUMAN C-Maf-inducing protein (sprot)

description: A C-Maf-inducing protein that is encoded in the genome of human.


name: TTC14_HUMAN Tetratricopeptide repeat protein 14 (sprot)

description: A tetratricopeptide repeat protein 14 that is encoded in the genome of human.


opisthorchiasis

description: Infection with flukes of the genus Opisthorchis.


name: DUX4C_HUMAN Double homeobox protein 4C (sprot)

description: A double homeobox protein 4C that is encoded in the genome of human.


SHRM4_HUMAN Protein Shroom4 (sprot)

A protein Shroom4 that is encoded in the genome of human.


hyperalphalipoproteinemia

description: An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


name: TBCD7_HUMAN TBC1 domain family member 7 (sprot)

description: A TBC1 domain family member 7 that is encoded in the genome of human.


name: CAMP3_HUMAN Calmodulin-regulated spectrin-associated protein 3 (sprot)

description: A calmodulin-regulated spectrin-associated protein 3 that is encoded in the genome of human.


Leukocoria

description: An abnormal white reflection from the pupil rather than the usual black reflection.


name: PK1L1_HUMAN Polycystin-1-like protein 1 (sprot)

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


name: Gaucher disease due to saposin C deficiency

description: Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.


juvenile ankylosing spondylitis

description: Ankylosing spondylitis occurring in children or adolescents.


Porphyrinuria

description: Abnormally increased excretion of porphyrins in the urine.


A 3-oxo-5beta-steroid formed from 11-deoxycorticosterone by reduction across the C4-C5 double bond.


name: (2-(7-(2-(4-Cyano-2-fluorophenoxy)ethyl)-9-oxa-3,7-diazabicyclo(3.3.1)non-3-yl)ethyl)carbamic acid tert-butyl ester


name: MIER1_HUMAN Mesoderm induction early response protein 1 (sprot)

description: A mesoderm induction early response protein 1 that is encoded in the genome of human.


name: UBP54_HUMAN Inactive ubiquitin carboxyl-terminal hydrolase 54 (sprot)

description: An inactive ubiquitin carboxyl-terminal hydrolase 54 that is encoded in the genome of human.


EEC syndrome

description: EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).


name: acromesomelic dysplasia 1, Maroteaux type

description: A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.


TOLMETIN SODIUM

An organic sodium salt that is the monosodium salt of tolmetin. Used in the form of its dihydrate as a nonselective nonsteroidal anti-inflammatory drug.


name: TCPW_HUMAN T-complex protein 1 subunit zeta-2 (sprot)

description: A T-complex protein 1 subunit zeta-2 that is encoded in the genome of human.


name: CXB4_HUMAN Gap junction beta-4 protein (sprot)

description: A gap junction beta-4 protein that is encoded in the genome of human.


name: Propanamide, N-(2,6-dimethyl-4-((4-(methyl(2-phenylethyl)amino)-1-piperidinyl)carbonyl)phenyl)-, hydrochloride, hydrate (1:1:1)


Delayed puberty

description: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.


Hypothalamic atrophy

description: Partial or complete wasting (loss) of hypothalamus tissue that was once present.


name: O2AG2_HUMAN Olfactory receptor 2AG2 (sprot)

description: An olfactory receptor 2AG2 that is encoded in the genome of human.


name: TCAL5_HUMAN Transcription elongation factor A protein-like 5 (sprot)

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


An oxysterol that is cholesterol substituted at position 26 by a hydroxy group.


name: VA0E2_HUMAN V-type proton ATPase subunit e 2 (sprot)

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


name: PLPP4_HUMAN Phospholipid phosphatase 4 (sprot)

description: A phospholipid phosphatase 4 that is encoded in the genome of human.


iris neoplasm

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


name: UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 (sprot)

description: An E3 ubiquitin-protein ligase UBR3 that is encoded in the genome of human.


plague

description: Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.


name: KRT35_HUMAN Keratin, type I cuticular Ha5 (sprot)

description: A keratin, type I cuticular Ha5 that is encoded in the genome of human.


name: GP171_HUMAN G-protein coupled receptor 171 (sprot)

description: A G-protein coupled receptor 171 that is encoded in the genome of human.


Mycoplasma encephalitis

description: Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).


name: SCOT2_HUMAN Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial (sprot)

description: A succinyl-CoA:3-ketoacid-coenzyme A transferase 2, mitochondrial that is encoded in the genome of human.


dipivefrine

The dipivalate ester of (+-)-epinephrine (racepinephrine). A pro-drug of epinephrine, the hydrochloride is used topically as eye drops to reduce intra-ocular pressure in the treatment of open-angle glaucoma or ocular hypertension.


name: SDHF3_HUMAN Succinate dehydrogenase assembly factor 3, mitochondrial (sprot)

description: A protein ACN9, mitochondrial that is encoded in the genome of human.


vitelliform macular dystrophy

description: A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.


name: DCUP_HUMAN Uroporphyrinogen decarboxylase (sprot)

description: A uroporphyrinogen decarboxylase that is encoded in the genome of human.


name: GRIP2_HUMAN Glutamate receptor-interacting protein 2 (sprot)

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


name: idiopathic mast cell activation syndrome

description: Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.


name: IGFN1_HUMAN Immunoglobulin-like and fibronectin type III domain-containing protein 1 (sprot)

description: An immunoglobulin-like and fibronectin type III domain-containing protein 1 that is encoded in the genome of human.


SELV_HUMAN Selenoprotein V (sprot)

A selenoprotein V that is encoded in the genome of human.


name: FXL22_HUMAN F-box and leucine-rich protein 22 (sprot)

description: An F-box/LRR-repeat protein 22 that is encoded in the genome of human.


extraventricular neurocytoma

description: Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.


name: BTBD6_HUMAN BTB/POZ domain-containing protein 6 (sprot)

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


name: LCN6_HUMAN Epididymal-specific lipocalin-6 (sprot)

description: An epididymal-specific lipocalin-6 that is encoded in the genome of human.


name: GCNT4_HUMAN Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 (sprot)

description: A beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 that is encoded in the genome of human.


psoriasis 2

description: Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.


scrub typhus

description: Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.


name: TMM51_HUMAN Transmembrane protein 51 (sprot)

description: A transmembrane protein 51 that is encoded in the genome of human.


name: CELR2_HUMAN Cadherin EGF LAG seven-pass G-type receptor 2 (sprot)

description: A cadherin EGF LAG seven-pass G-type receptor 2 that is encoded in the genome of human.


name: NEPR1_HUMAN Nuclear envelope phosphatase-regulatory subunit 1 (sprot)

description: A nuclear envelope phosphatase-regulatory subunit 1 that is encoded in the genome of human.


name: CNEP1_HUMAN CTD nuclear envelope phosphatase 1 (sprot)

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


adenoma of small intestine

description: A adenoma that involves the small intestine.


Dysplastic tricuspid valve

description: A congenital malformation of the tricuspid valve characterized by leaflet deformation.


UDP N-acetyl-glucosamine

A UDP-amino sugar having N-acetyl-alpha-D-glucosamine as the amino sugar component.


name: KCJ18_HUMAN Inward rectifier potassium channel 18 (sprot)

description: An inward rectifier potassium channel 18 that is encoded in the genome of human.


name: VKGC_HUMAN Vitamin K-dependent gamma-carboxylase (sprot)

description: A vitamin K-dependent gamma-carboxylase that is encoded in the genome of human.


exudative vitreoretinopathy

description: Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.


retinal hemangioblastoma

description: A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.


CETOSTEARYL ALCOHOL

A long-chain primary fatty alcohol consisting of a hydroxy function at C-1 of an unbranched saturated chain of 18 carbon atoms.


bullous pemphigoid

description: Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.


name: KC1G2_HUMAN Casein kinase I isoform gamma-2 (sprot)

description: A casein kinase I isoform gamma-2 that is encoded in the genome of human.


name: MA2C1_HUMAN Alpha-mannosidase 2C1 (sprot)

description: An alpha-mannosidase 2C1 that is encoded in the genome of human.


P3_HUMAN P3 protein (sprot)

A P3 protein that is encoded in the genome of human.


talmapimod

An indolecarboxamide obtained by formal condensation of the carboxy group of 6-chloro-3-[(dimethylamino)(oxo)acetyl]-1-methylindole-5-carboxylic acid with the secondary amino group  of (2S,5R)-1-[(4-fluorophenyl)methyl]-2,5-dimethylpiperazine. It is a potent inhibitor of MAPK and exhibits anti-cancer properties.


Δ9-Tetrahydrocannabinolic acid

A diterpenoid that is 6a,7,8,10a-tetrahydro-6H-benzo[c]chromene substituted at position 1 by a hydroxy group, positions 6, 6 and 9 by methyl groups and at position 3 by a pentyl group. A biosynthetic precursor to Delta(9)-tetrahydrocannabinol, the principal psychoactive constituent of the cannabis plant.


name: PDZD7_HUMAN PDZ domain-containing protein 7 (sprot)

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


name: MYCT_HUMAN Proton myo-inositol cotransporter (sprot)

description: A proton myo-inositol cotransporter that is encoded in the genome of human.


name: undifferentiated pleomorphic sarcoma, inflammatory variant

description: An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.


pyrrolizidine

A bicyclic organonitrogen heterocyclic compound comprised of two ortho-fused pyrrolidine rings which share a common nitrogen atom.


name: TM108_HUMAN Transmembrane protein 108 (sprot)

description: A transmembrane protein 108 that is encoded in the genome of human.


name: WDR12_HUMAN Ribosome biogenesis protein WDR12 (sprot)

description: A ribosome biogenesis protein WDR12 that is encoded in the genome of human.


Corpus callosum atrophy

description: The presence of atrophy (wasting) of the corpus callosum.


Midface retrusion

description: Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.


SCOPOLIN

A member of the class of  coumarins that is scopoletin attached to a beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage.


purine metabolism disease

description: A disease that has its basis in the disruption of purine nucleobase metabolic process.


PALMITOYL GLYCINE

An N-acylglycine in which the acyl group is specified as hexadecanoyl (palmitoyl).


DPOLB_HUMAN DNA polymerase beta (sprot)

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


pseudoachondroplasia

description: Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.


scarlet fever

description: A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.


DISTIGMINE BROMIDE

An organic bromide salt of distigmine. It is an anticholinesterase drug used for the treatment of myasthenia gravis and postoperative urinary retention.


name: FGOP2_HUMAN FGFR1 oncogene partner 2 (sprot)

description: An FGFR1 oncogene partner 2 that is encoded in the genome of human.


name: TIGD4_HUMAN Tigger transposable element-derived protein 4 (sprot)

description: A tigger transposable element-derived protein 4 that is encoded in the genome of human.


EXO5_HUMAN Exonuclease V (sprot)

An exonuclease V that is encoded in the genome of human.


name: KDM5D_HUMAN Lysine-specific demethylase 5D (sprot)

description: A lysine-specific demethylase 5D that is encoded in the genome of human.


EAST syndrome

description: SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).


name: NTM1B_HUMAN N-terminal Xaa-Pro-Lys N-methyltransferase 2 (sprot)

description: An N-terminal Xaa-Pro-Lys N-methyltransferase 2 that is encoded in the genome of human.


name: SP110_HUMAN Sp110 nuclear body protein (sprot)

description: An Sp110 nuclear body protein that is encoded in the genome of human.


name: BEND6_HUMAN BEN domain-containing protein 6 (sprot)

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


description: An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.


name: VATE2_HUMAN V-type proton ATPase subunit E 2 (sprot)

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


vulvar dystrophy

description: A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.


xeroderma pigmentosum group B

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.


D-asparagine

An optically active form of asparagine having D-configuration.


decanoate

A fatty acid anion 10:0 that is the conjugate base of decanoic acid.


Murray valley encephalitis

description: An disease caused by infection with Murray Valley encephalitis virus.


name: TSSK3_HUMAN Testis-specific serine/threonine-protein kinase 3 (sprot)

description: A testis-specific serine/threonine-protein kinase 3 that is encoded in the genome of human.


name: DCAF8_HUMAN DDB1- and CUL4-associated factor 8 (sprot)

description: A DDB1- and CUL4-associated factor 8 that is encoded in the genome of human.


name: CAMKV_HUMAN CaM kinase-like vesicle-associated protein (sprot)

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


2-isopropylmalic acid

A dicarboxylic acid that is malic acid (2-hydroxysuccinic acid) in which the hydrogen at position 2 is substituted by an isopropyl group.


sporotrichosis

description: The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.


name: HM20B_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related (sprot)

description: A SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related that is encoded in the genome of human.


liver sarcoma

description: A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.


name: isolated focal cortical dysplasia type I


AMBENONIUM CHLORIDE

A symmetrical oxalamide-based bis-quaternary ammonium salt having ethyl and 2-chlorobenzyl groups attached to the nitrogens.


TOLUIC ACID

A methylbenzoic acid that is benzoic acid substituted by a methyl group at position 2.


EVI2A_HUMAN Protein EVI2A (sprot)

A protein EVI2A that is encoded in the genome of human.


name: NXNL2_HUMAN Nucleoredoxin-like protein 2 (sprot)

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


name: WRP73_HUMAN WD repeat-containing protein WRAP73 (sprot)

description: A WD repeat-containing protein WRAP73 that is encoded in the genome of human.


name: combined pulmonary fibrosis-emphysema syndrome


breast adenoma

description: A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.


name: FBX34_HUMAN F-box only protein 34 (sprot)

description: An F-box only protein 34 that is encoded in the genome of human.


rectal villous adenoma

description: A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.


KAD7_HUMAN Adenylate kinase 7 (sprot)

An adenylate kinase 7 that is encoded in the genome of human.


Macronodular cirrhosis

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


ovarian endometrial cancer

description: A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


name: neurometabolic disorder due to serine deficiency

description: Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


spermatocytic seminoma

description: A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.


steatitis

description: A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)


name: FRMD8_HUMAN FERM domain-containing protein 8 (sprot)

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


uvea neoplasm

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


name: DCAF5_HUMAN DDB1- and CUL4-associated factor 5 (sprot)

description: A DDB1- and CUL4-associated factor 5 that is encoded in the genome of human.


transient myeloproliferative syndrome

description: A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.


telomere syndrome

description: Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.


name: PHF5A_HUMAN PHD finger-like domain-containing protein 5A (sprot)

description: A PHD finger-like domain-containing protein 5A that is encoded in the genome of human.


TIAGABINE HYDROCHLORIDE

A hydrochloride resulting from the reaction of equimolar amounts of tiagabine and hydrogen chloride. A GABA reuptake inhibitor, it is used for the treatment of epilepsy.


name: IKBP1_HUMAN Interleukin-1 receptor-associated kinase 1-binding protein 1 (sprot)

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


MONOTHIOGLYCEROL

A thiol that is glycerol in which one of the primary hydroxy groups is replaced by a thiol group.


name: MRS2_HUMAN Magnesium transporter MRS2 homolog, mitochondrial (sprot)

description: A magnesium transporter MRS2, mitochondrial that is encoded in the genome of human.


Iris hypopigmentation

description: An abnormal reduction in the amount of pigmentation of the iris.


TRANS-PHYTOL

A diterpenoid that is hexadec-2-en-1-ol substituted by methyl groups at positions 3, 7, 11 and 15.


cardiac valvular dysplasia, X-linked

description: An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.


name: GIMA7_HUMAN GTPase IMAP family member 7 (sprot)

description: A GTPase IMAP family member 7 that is encoded in the genome of human.


name: GIMA2_HUMAN GTPase IMAP family member 2 (sprot)

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


thioproperazine

A phenothiazine derivative in which the phenothiazine tricycle has a dimethylaminosulfonyl substituent at the 2-position and a 3-(4-methylpiperazin-1-yl)propyl group at N-10.


H31T_HUMAN Histone H3.1t (sprot)

A histone H3.1t that is encoded in the genome of human.


name: U2AFL_HUMAN U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 (sprot)

description: A U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 that is encoded in the genome of human.


atrophic thyroiditis

description: Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.


description: Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.


name: AGFG1_HUMAN Arf-GAP domain and FG repeat-containing protein 1 (sprot)

description: An Arf-GAP domain and FG repeat-containing protein 1 that is encoded in the genome of human.


Renal calcium wasting

description: High urine calcium in the presence of hypocalcemia.


spinal cord disorder

description: A disease involving the spinal cord.


skin appendage carcinoma

description: A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.


name: KCD19_HUMAN BTB/POZ domain-containing protein KCTD19 (sprot)

description: A BTB/POZ domain-containing protein KCTD19 that is encoded in the genome of human.


Global glomerulosclerosis

description: Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.


(-)-epitaxifolin

A taxifolin that has (2R,3S)-configuration.


name: PNMA5_HUMAN Paraneoplastic antigen-like protein 5 (sprot)

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


Perianal erythema

description: Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.


name: MIER2_HUMAN Mesoderm induction early response protein 2 (sprot)

description: A mesoderm induction early response protein 2 that is encoded in the genome of human.


name: SCAM5_HUMAN Secretory carrier-associated membrane protein 5 (sprot)

description: A secretory carrier-associated membrane protein 5 that is encoded in the genome of human.


IFNA4_HUMAN Interferon alpha-4 (sprot)

An interferon alpha-4 that is encoded in the genome of human.


name: polyneuropathy, inflammatory demyelinating, chronic


cardiolipin (20:2/16:1/18:1/18:3)

A cardiolipin in which the four acyl groups are specified as icosadienoyl, hexadecenoyl, octadecenoyl and octadecatrienoyl.


Multifocal breast carcinoma

description: Breast carcinoma that is bilateral or otherwise multifocal.


name: LIME1_HUMAN Lck-interacting transmembrane adapter 1 (sprot)

description: An lck-interacting transmembrane adapter 1 that is encoded in the genome of human.


name: NUDT4_HUMAN Diphosphoinositol polyphosphate phosphohydrolase 2 (sprot)

description: A diphosphoinositol polyphosphate phosphohydrolase 2 that is encoded in the genome of human.


LEUPROLIDE ACETATE

An acetate salt obtained by combining the nonapeptide leuprolide with acetic acid. A long lasting GnRH analog, LH-Rh agonist. It is a synthetic nonapeptide analogue of gonadotropin-releasing hormone, and is used as a subcutaneous hydrogel implant for the treatment of prostate cancer and for the suppression of gonadal sex hormone production in children with central precocious puberty.


NK2R_HUMAN Substance-K receptor (sprot)

A substance-K receptor that is encoded in the genome of human.


name: SNF8_HUMAN Vacuolar-sorting protein SNF8 (sprot)

description: A vacuolar-sorting protein SNF8 that is encoded in the genome of human.


name: GOSR1_HUMAN Golgi SNAP receptor complex member 1 (sprot)

description: A Golgi SNAP receptor complex member 1 that is encoded in the genome of human.


basosquamous carcinoma

description: A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.


myofibroblastoma

description: A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.


Yao syndrome

description: An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.


PHENYLALANINE METHYL ESTER

An alpha-amino acid ester that is the methyl ester of L-phenylalanine.


name: TBCB_HUMAN Tubulin-folding cofactor B (sprot)

description: A tubulin-folding cofactor B that is encoded in the genome of human.


name: NREP_HUMAN Neuronal regeneration-related protein (sprot)

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


name: NPIB3_HUMAN Nuclear pore complex-interacting protein family member B3 (sprot)

description: A nuclear pore complex-interacting protein family member B3 that is encoded in the genome of human.


Pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.


cefazedone

A first-generation cephalosporin antibiotic having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and [(3,5-dichloro-4-oxopyridin-1(4H)-yl)acetamido side-groups located at positions 3 and 7 respectively.


racemate

A racemate is an equimolar mixture of a pair of enantiomers.


fetal valproate syndrome

description: Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).


PALMITAMIDE

A fatty amide that is the carboxamide derived from palmitic acid.


name: TXK_HUMAN Tyrosine-protein kinase TXK (sprot)

description: A tyrosine-protein kinase TXK that is encoded in the genome of human.


sarcoma of cervix uteri

description: A sarcoma involving a uterine cervix.


LIPK_HUMAN Lipase member K (sprot)

A lipase member K that is encoded in the genome of human.


placenta praevia

description: Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.


name: PRAF2_HUMAN PRA1 family protein 2 (sprot)

description: A PRA1 family protein 2 that is encoded in the genome of human.


name: PX11C_HUMAN Peroxisomal membrane protein 11C (sprot)

description: A peroxisomal membrane protein 11C that is encoded in the genome of human.


name: TRI49_HUMAN Tripartite motif-containing protein 49 (sprot)

description: A tripartite motif-containing protein 49 that is encoded in the genome of human.


triaziquone

A member of the class of 1,4-benzoquinones that is 1,4-benzoquinone in which three of the ring hydrogens are replaced by aziridin-1-yl groups.


EQUILENIN

A 3-hydroxy steroid that is estrone which carries two double bonds at positions 6 and 8. It is found in the urine of pregnant mare's and extensively used for estrogen replacement therapy in postmenopausal women.


name: KELL_HUMAN Kell blood group glycoprotein (sprot)

description: A kell blood group glycoprotein that is encoded in the genome of human.


allergic otitis media

description: A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.


SEMG2_HUMAN Semenogelin-2 (sprot)

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


An estradiol that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17 (the 17alpha stereoisomer).


betazole

Pyrazole in which a hydrogen adjacent to one of the nitrogen atoms is substituted by a 2-aminoethyl group. It is a histamine H2-receptor agonist used clinically to test gastric secretory function.


acetylsalicylate

A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group.


Tics

description: Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.


rhabdoid tumor of the kidney

description: A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.


name: TSPY4_HUMAN Testis-specific Y-encoded protein 4 (sprot)

description: A testis-specific Y-encoded protein 4 that is encoded in the genome of human.


Upper limb pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.


name: HYPM_HUMAN Huntingtin-interacting protein M (sprot)

description: A huntingtin-interacting protein M that is encoded in the genome of human.


name: SETD9_HUMAN SET domain-containing protein 9 (sprot)

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


name: COPZ2_HUMAN Coatomer subunit zeta-2 (sprot)

description: A coatomer subunit zeta-2 that is encoded in the genome of human.


typhasterol

A brassinosteroid that is ergostan-6-one bearing three additional hydroxy substituents at positions 3alpha, 22R and 23R.


name: SVIP_HUMAN Small VCP/p97-interacting protein (sprot)

description: A small VCP/p97-interacting protein that is encoded in the genome of human.


Downbeat nystagmus

description: Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.


name: pancreatic intraductal papillary-mucinous neoplasm

description: A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.


description: A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).


8-epi-prostaglandin F2alpha

An isoprostane that is prostaglandin F2alpha having inverted stereochemistry at the 8-position.


long-chain fatty acyl-CoA

A fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of any long-chain (C13 to C22) fatty acid.


name: CP343_HUMAN Cytochrome P450 3A43 (sprot)

description: A cytochrome P450 3A43 that is encoded in the genome of human.


ETHAMBUTOL HYDROCHLORIDE

The dihydrchloride salt of ethambutol. A bacteriostatic antimycobacterial drug, it is effective against Mycobacterium tuberculosis and some other mycobacteria. It is used in combination with other antituberculous drugs in the treatment of pulmonary and extrapulmonary tuberculosis; resistant strains of M. tuberculosis are readily produced if ethambutol dihydrochloride is used alone.


LEG16_HUMAN Galectin-16 (sprot)

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


name: KV320_HUMAN Immunoglobulin kappa variable 3-20 (sprot)

description: A protein that is a translation product of the IGKV3-20 gene in human.


name: T184B_HUMAN Transmembrane protein 184B (sprot)

description: A transmembrane protein 184B that is encoded in the genome of human.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

description: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.


CTXN3_HUMAN Cortexin-3 (sprot)

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


juvenile hyaline fibromatosis

description: Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.


norsolorinic acid

A polyketide that is anthraquinone bearing four hydroxy substituents at positions 1, 3, 6 and 8 as well as a hexanoyl substituent at position 2.


PSAT deficiency

description: Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.


name: ERP27_HUMAN Endoplasmic reticulum resident protein 27 (sprot)

description: An endoplasmic reticulum resident protein 27 that is encoded in the genome of human.


tuberculum sellae meningioma

description: A meningioma that affects the tuberculum sellae.


name: developmental and epileptic encephalopathy, 7

description: KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.


Gingival bleeding

description: Hemorrhage affecting the gingiva.


name: BTBD1_HUMAN BTB/POZ domain-containing protein 1 (sprot)

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


name: BTBD2_HUMAN BTB/POZ domain-containing protein 2 (sprot)

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


name: porphyria due to ALA dehydratase deficiency

description: Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.


name: NHLC2_HUMAN NHL repeat-containing protein 2 (sprot)

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


name: H90B4_HUMAN Putative heat shock protein HSP 90-beta 4 (sprot)

description: A putative heat shock protein HSP 90-beta 4 that is encoded in the genome of human.


CORILAGIN

An ellagitannin with a hexahydroxydiphenoyl group bridging over the 3-O and 6-O of the glucose core.


name: DNJC8_HUMAN DnaJ homolog subfamily C member 8 (sprot)

description: A DnaJ homolog subfamily C member 8 that is encoded in the genome of human.


Neck flexor weakness

description: Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).


name: GFOD1_HUMAN Glucose-fructose oxidoreductase domain-containing protein 1 (sprot)

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


name: ARC1A_HUMAN Actin-related protein 2/3 complex subunit 1A (sprot)

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


hot water reflex epilepsy

description: Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


Larsen syndrome

description: Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.


name: T161A_HUMAN Transmembrane protein 161A (sprot)

description: A transmembrane protein 161A that is encoded in the genome of human.


SG2A2_HUMAN Mammaglobin-A (sprot)

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


erythroplakia

description: A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.


name: FRPD4_HUMAN FERM and PDZ domain-containing protein 4 (sprot)

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


An aryl thiol that is thiophenol substituted at position 2 by an amino group.


acute retrobulbar neuritis

description: Acute form of retrobulbar neuritis.


GLYCITEIN

A  methoxyisoflavone that is isoflavone substituted by a methoxy group at position 6 and hydroxy groups at positions 7 and 4'. It has been isolated from the mycelia of the fungus Cordyceps sinensis.


vulvar adenocarcinoma

description: An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.


name: COLA1_HUMAN Collagen alpha-1(XXI) chain (sprot)

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


name: RT17_HUMAN Small ribosomal subunit protein uS17m (sprot)

description: A small ribosomal subunit protein uS17m that is encoded in the genome of human.


name: TOM6_HUMAN Mitochondrial import receptor subunit TOM6 homolog (sprot)

description: A mitochondrial import receptor subunit TOM6 that is encoded in the genome of human.


name: CSN7A_HUMAN COP9 signalosome complex subunit 7a (sprot)

description: A COP9 signalosome complex subunit 7a that is encoded in the genome of human.


ankyloglossia

description: A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.


peroxisomal disease

description: A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.