2-nitrobenzoic acid

A nitrobenzoic acid carrying the nitro substituent at position 2.


name: TMED9_HUMAN Transmembrane emp24 domain-containing protein 9 (sprot)

description: A transmembrane emp24 domain-containing protein 9 that is encoded in the genome of human.


name: SMTL2_HUMAN Smoothelin-like protein 2 (sprot)

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


name: AT12A_HUMAN Potassium-transporting ATPase alpha chain 2 (sprot)

description: A potassium-transporting ATPase alpha chain 2 that is encoded in the genome of human.


phosphatidylcholine (P-16:0/20:4)

A phosphatidylcholine P-36:4 in which the 1-alk-1-enyl group contains 16 carbons and no additional double bonds while the 2-acyl group contains 20 carbons and 4 double bonds.


PODOCARIC ACID

An abietane diterpenoid lacking the isopropyl substituent with an aromatic C-ring and a hydroxy group at the 12-position.


Retinal pigment epithelial atrophy

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

description: Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.


Foveal atrophy

description: Partial or complete loss of foveal tissue that was once present.


Cilioretinal artery occlusion

description: Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.


hematologic disorder

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

description: A disease involving the hematopoietic system.


name: ASPX_HUMAN Acrosomal protein SP-10 (sprot)

description: An acrosomal protein SP-10 that is encoded in the genome of human.


Polypropylene glycol (m w 1,200-3,000)

A macromolecule composed of repeating propyleneoxy units.


name: OCAD2_HUMAN OCIA domain-containing protein 2 (sprot)

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


name: CNDH2_HUMAN Condensin-2 complex subunit H2 (sprot)

description: A condensin-2 complex subunit H2 that is encoded in the genome of human.


name: WDR35_HUMAN WD repeat-containing protein 35 (sprot)

description: A WD repeat-containing protein 35 that is encoded in the genome of human.


name: MRP9_HUMAN ATP-binding cassette sub-family C member 12 (sprot)

description: An ATP-binding cassette sub-family C member 12 that is encoded in the genome of human.


name: CNTP4_HUMAN Contactin-associated protein-like 4 (sprot)

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


name: LNX2_HUMAN Ligand of Numb protein X 2 (sprot)

description: A ligand of Numb protein X 2 that is encoded in the genome of human.


name: GFRAL_HUMAN GDNF family receptor alpha-like (sprot)

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


Chest pain

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


orchitis

description: Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.


dysgerminoma

description: A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.


name: APBA2_HUMAN Amyloid-beta A4 precursor protein-binding family A member 2 (sprot)

description: An amyloid-beta A4 precursor protein-binding family A member 2 that is encoded in the genome of human.


LCN15_HUMAN Lipocalin-15 (sprot)

A lipocalin-15 that is encoded in the genome of human.


pituitary adenocarcinoma

description: A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.


name: SC16B_HUMAN Protein transport protein Sec16B (sprot)

description: A protein transport protein Sec16B that is encoded in the genome of human.


name: LTOR1_HUMAN Ragulator complex protein LAMTOR1 (sprot)

description: A ragulator complex protein LAMTOR1 that is encoded in the genome of human.


Motor delay

description: A type of Developmental delay characterized by a delay in acquiring motor skills.


name: NNTM_HUMAN NAD(P) transhydrogenase, mitochondrial (sprot)

description: An NAD(P) transhydrogenase, mitochondrial that is encoded in the genome of human.


SEM3G_HUMAN Semaphorin-3G (sprot)

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


superior mesenteric artery syndrome

description: Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.


EXTL3_HUMAN Exostosin-like 3 (sprot)

An exostosin-like 3 that is encoded in the genome of human.


HYPOPHOSPHOROUS ACID

A phosphorus oxoacid that consists of a single pentavalent phosphorus covalently bound via single bonds to two hydrogens and a hydroxy group and via a double bond to an oxygen. The parent of the class of phosphinic acids.


loracarbef

A synthetic "carba" analogue of cefaclor, with carbon replacing sulfur at position 1. Used to treat a wide range of infections caused by both gram-positive and gram-negative bacteria.


Interstitial pneumonitis

description: Inflammation of interstitial lung tissue, usually associated with infection.


syndromic orbital border hypoplasia

description: Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.


name: ISK4_HUMAN Serine protease inhibitor Kazal-type 4 (sprot)

description: A serine protease inhibitor Kazal-type 4 that is encoded in the genome of human.


prolactin producing pituitary tumor

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.


name: ANKR6_HUMAN Ankyrin repeat domain-containing protein 6 (sprot)

description: An ankyrin repeat domain-containing protein 6 that is encoded in the genome of human.


name: HXC5_HUMAN Homeobox protein Hox-C5 (sprot)

description: A homeobox protein Hox-C5 that is encoded in the genome of human.


name: FGRL1_HUMAN Fibroblast growth factor receptor-like 1 (sprot)

description: A fibroblast growth factor receptor-like 1 that is encoded in the genome of human.


dimethylamine

A secondary aliphatic amine where both N-substituents are methyl.


name: SE6L1_HUMAN Seizure 6-like protein (sprot)

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


fostriecin

A structurally unique, naturally-occurring phosphate monoester isolated from the soil bacterium Streptomyces pulveraceus. It inhibits DNA topoisomerase II as well as several protein phosphatase including PP2A and PPA4, and exhibits potent antitumor activity against several cancer cell lines.


name: ARHGQ_HUMAN Rho guanine nucleotide exchange factor 26 (sprot)

description: A Rho guanine nucleotide exchange factor 26 that is encoded in the genome of human.


name: MILK2_HUMAN MICAL-like protein 2 (sprot)

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


Limb dystonia

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


name: CKS2_HUMAN Cyclin-dependent kinases regulatory subunit 2 (sprot)

description: A cyclin-dependent kinases regulatory subunit 2 that is encoded in the genome of human.


LOGANIN

An  iridoid monoterpenoid with formula C17H26O10 that is isolated from several plant species and exhibits neuroprotective and anti-inflammatory properties.


SNX10_HUMAN Sorting nexin-10 (sprot)

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


TRICARBALLYLIC ACID

A tricarboxylic acid that is glutaric acid in which one of the beta-hydrogens is substituted by a carboxy group.


name: NAL10_HUMAN NACHT, LRR and PYD domains-containing protein 10 (sprot)

description: A NACHT, LRR and PYD domains-containing protein 10 that is encoded in the genome of human.


name: CD37_HUMAN Leukocyte antigen CD37 (sprot)

description: A CD37 molecule that is encoded in the genome of human.


name: TCP1L_HUMAN T-complex protein 10A homolog 1 (sprot)

description: A T-complex protein 10A homolog 1 that is encoded in the genome of human.


A glycophytoceramide having an alpha-D-galactosyl residue at the O-1 position and a hexacosanoyl group attached to the nitrogen.


Alveolar bone loss around teeth

description: A decrease in the amount of alveolar bone around the root of a tooth.


name: Decreased circulating vitamin E concentration

description: A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.


germinoma

description: A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.


acral lentiginous melanoma

description: A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.


scrotal hemangioma

description: A hemangioma arising from the skin of the scrotum.


name: GPR26_HUMAN G-protein coupled receptor 26 (sprot)

description: A G-protein coupled receptor 26 that is encoded in the genome of human.


SDCB1_HUMAN Syntenin-1 (sprot)

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


Abnormal facial shape

description: An abnormal morphology (form) of the face or its components.


felbinac

A monocarboxylic acid in which one of the alpha-hydrogens is substituted by a biphenyl-4-yl group. An active metabolite of fenbufen, it is used as a topical medicine to treat muscle inflammation and arthritis.


name: childhood epilepsy with centrotemporal spikes

description: A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.


MERRF syndrome

description: A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.


oculocutaneous albinism

description: Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.


sterol ester

A steroid ester obtained by formal condensation of the carboxy group of any carboxylic acid with the 3-hydroxy group of a sterol.


APRACLONIDINE HYDROCHLORIDE

The hydrochloride salt of apraclonidine.


von Willebrand disease 2

description: Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).


name: S2541_HUMAN Mitochondrial carrier protein SCaMC-3L (sprot)

description: A mitochondrial carrier protein SCaMC-3L that is encoded in the genome of human.


name: EDEM2_HUMAN ER degradation-enhancing alpha-mannosidase-like protein 2 (sprot)

description: An ER degradation-enhancing alpha-mannosidase-like protein 2 that is encoded in the genome of human.


ETHYLGALLATE

A gallate ester obtained by the formal condensation of gallic acid with ethanol.


name: CYRIB_HUMAN CYFIP-related Rac1 interactor B (sprot)

description: A CYFIP-related Rac1 interactor B that is encoded in the genome of human.


name: PCDGJ_HUMAN Protocadherin gamma-B7 (sprot)

description: A protocadherin gamma-B7 that is encoded in the genome of human.


name: SIGL7_HUMAN Sialic acid-binding Ig-like lectin 7 (sprot)

description: A sialic acid-binding Ig-like lectin 7 that is encoded in the genome of human.


description: A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.


name: S49A3_HUMAN Solute carrier family 49 member A3 (sprot)

description: A solute carrier family 49 member A3 that is encoded in the genome of human.


acrodermatitis

description: An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.


name: obesity due to pro-opiomelanocortin deficiency

description: Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.


name: EHBP1_HUMAN EH domain-binding protein 1 (sprot)

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


Rubinstein-Taybi syndrome

description: A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.


myotonia fluctuans

description: Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.


juvenile open angle glaucoma

description: Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.


name: CH3L2_HUMAN Chitinase-3-like protein 2 (sprot)

description: A chitinase-3-like protein 2 that is encoded in the genome of human.


COCAINE HYDROCHLORIDE

The hydrochloride salt of cocaine. It is a local anesthetic and vasoconstrictor and is clinically used for that purpose, particularly in the eye, ear, nose, and throat. It also has powerful central nervous system effects similar to the amphetamines and is a drug of abuse.


adenosquamous lung carcinoma

description: An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.


name: ACO11_HUMAN Acyl-coenzyme A thioesterase 11 (sprot)

description: An acyl-coenzyme A thioesterase 11 that is encoded in the genome of human.


X-linked myotubular myopathy

description: A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.


Krabbe disease

description: A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.


mature teratoma

description: A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


trimellitic anhydride

A 2-benzofuran compound having oxo groups at the 1- and 3-positions and a carboxy substituent at the 5-position; the cyclic anhydride formed from the carboxy groups at the 1- and 2-positions of trimellitic acid.


name: ZFHX4_HUMAN Zinc finger homeobox protein 4 (sprot)

description: A zinc finger homeobox protein 4 that is encoded in the genome of human.


APOL2_HUMAN Apolipoprotein L2 (sprot)

An apolipoprotein L2 that is encoded in the genome of human.


clidinium

The ester resulting from formal condensation of benzilic acid and 3-hydroxy-1-methyl-1-azoniabicyclo[2.2.2]octane. It is used, generally as the bromide, for the symptomatic treatment of peptic ulcer disease and also to help relieve abdominal or stomach spasms or cramps due to colicky abdominal pain, diverticulitis, and irritable bowel syndrome.


trilobatin

An aryl beta-D-glucoside that is phloretin attached to a beta-D-glucopyranosyl residue at position 4' via a glycosidic linkage. It is isolated from the leaves of the Chinese sweet tea Lithocarpus polystachyus and exhibits significant anti-hyperglycemic, anti-oxidative and anti-inflammatory properties.


hyper-IgM syndrome

description: A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.


name: TF2H3_HUMAN General transcription factor IIH subunit 3 (sprot)

description: A general transcription factor IIH subunit 3 that is encoded in the genome of human.


benzyl bromide

A member of the class of benzyl bromides that is toluene substituted on the alpha-carbon with bromine.


carcinoma of supraglottis

description: A carcinoma of the larynx that arises from the supraglottic area.


description: Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.


West-Nile encephalitis

description: An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.


name: ZY11A_HUMAN Protein zyg-11 homolog A (sprot)

description: A protein zyg-11 homolog A that is encoded in the genome of human.


oleuropein aglycone

A secoiridoid that is the methyl ester of 3,4-dihydro-2H-pyran-5-carboxylic acid which is substituted at positions 2, 3, and 4 by hydroxy, ethylidene, and carboxymethyl groups, respectively and in which the carboxylic acid moiety of the carboxymethyl substituent has been converted to the corresponding 3,4-dihydroxyphenethyl ester (the 2R,3E,4S stereoisomer). The most important phenolic compound present in olive cultivars.


X-linked Alport syndrome

description: X-linked form of Alport syndrome.


A myo-inositol tetrakisphosphate having the four phosphates placed in the 1-, 3-, 4- and 5-positions.


name: ARHGI_HUMAN Rho guanine nucleotide exchange factor 18 (sprot)

description: A Rho guanine nucleotide exchange factor 18 that is encoded in the genome of human.


sebaceous adenocarcinoma

description: An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.


name: HMDH_HUMAN 3-hydroxy-3-methylglutaryl-coenzyme A reductase (sprot)

description: A 3-hydroxy-3-methylglutaryl-coenzyme A reductase that is encoded in the genome of human.


name: PXL2A_HUMAN Peroxiredoxin-like 2A (sprot)

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


name: CHMP5_HUMAN Charged multivesicular body protein 5 (sprot)

description: A charged multivesicular body protein 5 that is encoded in the genome of human.


name: IMA6_HUMAN Importin subunit alpha-6 (sprot)

description: An importin subunit alpha-6 that is encoded in the genome of human.


name: SL9A5_HUMAN Sodium/hydrogen exchanger 5 (sprot)

description: A sodium/hydrogen exchanger 5 that is encoded in the genome of human.


serous adenocarcinoma

description: An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.


SATB2 associated disorder

description: A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.


12-methyltetradecanoic acid

A branched-chain saturated fatty acid comprising tetradecanoic acid carrying a 12-methyl substituent.


name: HMBX1_HUMAN Homeobox-containing protein 1 (sprot)

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


flurazepam

A 1,4-benzodiazepinone that is 1,3-dihydro-2H-1,4-benzodiazepin-2-one substituted by a 2-(diethylamino)ethyl group, 2-fluorophenyl group and chloro group at positions 1, 5 and 7, respectively. It is a partial agonist of GABAA receptors and used for the treatment of insomnia.


Median cleft upper lip

description: A type of cleft lip presenting as a midline (median) gap in the upper lip.


ELOA1_HUMAN Elongin-A (sprot)

An elongin-A that is encoded in the genome of human.


IPO4_HUMAN Importin-4 (sprot)

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


name: ICAM4_HUMAN Intercellular adhesion molecule 4 (sprot)

description: An intercellular adhesion molecule 4 that is encoded in the genome of human.


propoxyphene

A racemate of the (1R,2R)- and (1S,2R)- diastereoisomers.


name: K2C79_HUMAN Keratin, type II cytoskeletal 79 (sprot)

description: A keratin, type II cytoskeletal 79 that is encoded in the genome of human.


name: F13A_HUMAN Coagulation factor XIII A chain (sprot)

description: A coagulation factor XIII A chain that is encoded in the genome of human.


STAB2_HUMAN Stabilin-2 (sprot)

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


name: LRIQ1_HUMAN Leucine-rich repeat and IQ domain-containing protein 1 (sprot)

description: A leucine-rich repeat and IQ domain-containing protein 1 that is encoded in the genome of human.


name: PAPS2_HUMAN Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (sprot)

description: A bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 that is encoded in the genome of human.


cyclo(L-His-L-Pro)

A homodetic cyclic peptide resulting from the formal condensation of both the amino and acid groups of L-histidine with the acid and amino groups of L-proline. It is a metabolite of thyrotropin-releasing hormone (TRH).


3-phosphoglyceric acid

A monophosphoglyceric acid having the phospho group at the 3-position. It is an intermediate in metabolic pathways like glycolysis and calvin cycle.


cataract-glaucoma syndrome

description: Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.


description: Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.


name: primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma

description: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.


Frailty

description: A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.


name: NR3L1_HUMAN Natural cytotoxicity triggering receptor 3 ligand 1 (sprot)

description: A natural cytotoxicity triggering receptor 3 ligand 1 that is encoded in the genome of human.


tooth disorder

description: A disease involving the calcareous tooth.


name: CAHD1_HUMAN VWFA and cache domain-containing protein 1 (sprot)

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


name: RPC2_HUMAN DNA-directed RNA polymerase III subunit RPC2 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC2 that is encoded in the genome of human.


name: KCNC2_HUMAN Potassium voltage-gated channel subfamily C member 2 (sprot)

description: A voltage-gated potassium channel KCNC2 that is encoded in the genome of human.


name: MORN5_HUMAN MORN repeat-containing protein 5 (sprot)

description: A MORN repeat-containing protein 5 that is encoded in the genome of human.


name: PRRP_HUMAN Prolactin-releasing peptide (sprot)

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


name: KANK4_HUMAN KN motif and ankyrin repeat domain-containing protein 4 (sprot)

description: A KN motif and ankyrin repeat domain-containing protein 4 that is encoded in the genome of human.


O-COUMARIC ACID

The trans-isomer of 2-coumaric acid.


name: TVB65_HUMAN T cell receptor beta variable 6-5 (sprot)

description: A protein that is a translation product of the TRBV6-5 gene in human.


name: KANL3_HUMAN KAT8 regulatory NSL complex subunit 3 (sprot)

description: A KAT8 regulatory NSL complex subunit 3 that is encoded in the genome of human.


name: RTL6_HUMAN Retrotransposon Gag-like protein 6 (sprot)

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


name: RIOK3_HUMAN Serine/threonine-protein kinase RIO3 (sprot)

description: A serine/threonine-protein kinase RIO3 that is encoded in the genome of human.


name: LS14A_HUMAN Protein LSM14 homolog A (sprot)

description: A protein LSM14 homolog A that is encoded in the genome of human.


name: PE2R3_HUMAN Prostaglandin E2 receptor EP3 subtype (sprot)

description: A prostaglandin E2 receptor EP3 subtype that is encoded in the genome of human.


name: congenital isolated adrenocorticotropic hormone deficiency

description: A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.


spinal cord ependymoma

description: An ependymoma that arises from the spinal cord.


name: OST48_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit that is encoded in the genome of human.


name: RGP1_HUMAN RAB6A-GEF complex partner protein 2 (sprot)

description: A retrograde Golgi transport protein RGP1 that is encoded in the genome of human.


name: obesity due to melanocortin 4 receptor deficiency

description: Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.


name: UBE4A_HUMAN Ubiquitin conjugation factor E4 A (sprot)

description: A ubiquitin conjugation factor E4 A that is encoded in the genome of human.


Congenital pouch colon

description: A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.


benzphetamine

Dextroamphetamine in which the the hydrogens attached to the amino group are substituted by a methyl and a benzyl group. A sympathomimetic agent with properties similar to dextroamphetamine, it is used as its hydrochloride salt in the treatment of obesity.


aortic aneurysm

description: A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


name: TREF1_HUMAN Transcriptional-regulating factor 1 (sprot)

description: A transcriptional-regulating factor 1 that is encoded in the genome of human.


brachial plexus neuropathy

description: A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.


name: NU155_HUMAN Nuclear pore complex protein Nup155 (sprot)

description: A nuclear pore complex protein Nup155 that is encoded in the genome of human.


name: Abnormality of the parathyroid physiology

description: A functional abnormality of the parathyroid gland.


name: EKI2_HUMAN Ethanolamine kinase 2 (sprot)

description: An ethanolamine kinase 2 that is encoded in the genome of human.


invasive non-typhoidal salmonellosis

description: Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.


KBP_HUMAN KIF-binding protein (sprot)

A KIF-binding protein that is encoded in the genome of human.


potassium bromide

A metal bromide salt with a K(+) counterion.


endometrial endometrioid adenocarcinoma

description: A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.


name: GBB2_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 that is encoded in the genome of human.


name: NAL14_HUMAN NACHT, LRR and PYD domains-containing protein 14 (sprot)

description: A NACHT, LRR and PYD domains-containing protein 14 that is encoded in the genome of human.


name: PCX2_HUMAN Pecanex-like protein 2 (sprot)

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


name: SMC1B_HUMAN Structural maintenance of chromosomes protein 1B (sprot)

description: A structural maintenance of chromosomes protein 1B that is encoded in the genome of human.


name: RD21L_HUMAN Double-strand-break repair protein rad21-like protein 1 (sprot)

description: A double-strand-break repair protein rad21-like protein 1 that is encoded in the genome of human.


name: WDR41_HUMAN WD repeat-containing protein 41 (sprot)

description: A WD repeat-containing protein 41 that is encoded in the genome of human.


name: IFT22_HUMAN Intraflagellar transport protein 22 homolog (sprot)

description: An intraflagellar transport protein 22 that is encoded in the genome of human.


name: IFT27_HUMAN Intraflagellar transport protein 27 homolog (sprot)

description: An intraflagellar transport protein 27 homolog that is encoded in the genome of human.


name: VP26A_HUMAN Vacuolar protein sorting-associated protein 26A (sprot)

description: A vacuolar protein sorting-associated protein 26A that is encoded in the genome of human.


SNX27_HUMAN Sorting nexin-27 (sprot)

A sorting nexin-27 that is encoded in the genome of human.


NPAT_HUMAN Protein NPAT (sprot)

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


A butanediol that is butane in which one hydrogen of each of the methyl groups is substituted by a hydroxy group. A colourless, water-miscible, viscous liquid at room temperature (m.p. 16degreeC) with a high boiling point (230degreeC), it is mainly used for the production of other organic chemicals, particularly the solvent oxolane (also known as tetrahydrofuran or THF).


TPR_HUMAN Nucleoprotein TPR (sprot)

A nucleoprotein TPR that is encoded in the genome of human.


N(alpha)-acetyl-L-arginine

An N-acetyl-L-amino acid that is L-arginine in which one of the hydrogens attached to the nitrogen is replaced by an acetyl group.


name: PARN_HUMAN Poly(A)-specific ribonuclease PARN (sprot)

description: A poly(A)-specific ribonuclease PARN that is encoded in the genome of human.


name: ZC3HE_HUMAN Zinc finger CCCH domain-containing protein 14 (sprot)

description: A zinc finger CCCH domain-containing protein 14 that is encoded in the genome of human.


TSN4_HUMAN Tetraspanin-4 (sprot)

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


name: GP2_HUMAN Pancreatic secretory granule membrane major glycoprotein GP2 (sprot)

description: A pancreatic secretory granule membrane major glycoprotein GP2 that is encoded in the genome of human.


scurvy

description: A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.


PEPA4_HUMAN Pepsin A-4 (sprot)

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


name: OLM2A_HUMAN Olfactomedin-like protein 2A (sprot)

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


intimal sarcoma

description: A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


omega-muricholic acid

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


name: TFB1M_HUMAN Dimethyladenosine transferase 1, mitochondrial (sprot)

description: A dimethyladenosine transferase 1, mitochondrial that is encoded in the genome of human.


name: MEX3C_HUMAN RNA-binding E3 ubiquitin-protein ligase MEX3C (sprot)

description: An RNA-binding protein MEX3C that is encoded in the genome of human.


mucolipidosis type IV

description: A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.


amfenac

An oxo monocarboxylic acid that is benzophenone in which one of the phenyl groups is substituted by an amino group and a carboxymethyl group at position 2 and 3, respectively. The corresponding carboxamide, nepafenac, is a prodrug of amfenac and is used for the treatment of pain and inflammation following cataract surgery.


name: maturity-onset diabetes of the young type 3

description: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.


name: TCPE_HUMAN T-complex protein 1 subunit epsilon (sprot)

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


name: CHSP1_HUMAN Calcium-regulated heat-stable protein 1 (sprot)

description: A calcium-regulated heat-stable protein 1 that is encoded in the genome of human.


name: acute myeloid leukemia with multilineage dysplasia

description: An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.


pouchitis

description: Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).


name: PLCX2_HUMAN PI-PLC X domain-containing protein 2 (sprot)

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


retina lymphoma

description: A lymphoma that involves the retina.


name: CPSF6_HUMAN Cleavage and polyadenylation specificity factor subunit 6 (sprot)

description: A cleavage and polyadenylation specificity factor subunit 6 that is encoded in the genome of human.


name: RASL2_HUMAN Ras GTPase-activating protein 4 (sprot)

description: A Ras GTPase-activating protein 4 that is encoded in the genome of human.


phlorizin

An aryl beta-D-glucoside that is  phloretin attached to a  beta-D-glucopyranosyl residue at position 2' via a glycosidic linkage.


UROL1_HUMAN Uromodulin-like 1 (sprot)

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


ASAH2_HUMAN Neutral ceramidase (sprot)

A neutral ceramidase that is encoded in the genome of human.


CALMIDAZOLIUM CHLORIDE

The organic choride salt of calmidazolium.


name: PECR_HUMAN Peroxisomal trans-2-enoyl-CoA reductase (sprot)

description: A peroxisomal trans-2-enoyl-CoA reductase that is encoded in the genome of human.


name: LSM6_HUMAN U6 snRNA-associated Sm-like protein LSm6 (sprot)

description: A U6 snRNA-associated Sm-like protein LSm6 that is encoded in the genome of human.


name: RPC3_HUMAN DNA-directed RNA polymerase III subunit RPC3 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC3 that is encoded in the genome of human.


Orthokeratosis

description: Formation of an anuclear keratin layer


extrapulmonary tuberculosis

description: A tuberculosis that occurs at body sites other than the lung.


kidney benign neoplasm

description: A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.


An aspartate(2-) that is the conjugate base of D-aspartate(1-).


name: FADS6_HUMAN Fatty acid desaturase 6 (sprot)

description: A fatty acid desaturase 6 that is encoded in the genome of human.


name: TSTD1_HUMAN Thiosulfate:glutathione sulfurtransferase (sprot)

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


DCTN1_HUMAN Dynactin subunit 1 (sprot)

A dynactin subunit 1 that is encoded in the genome of human.


name: MINK1_HUMAN Misshapen-like kinase 1 (sprot)

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


name: IF4H_HUMAN Eukaryotic translation initiation factor 4H (sprot)

description: A eukaryotic translation initiation factor 4H that is encoded in the genome of human.


Scaling skin

description: Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.


VARESPLADIB METHYL

A methyl ester resulting from the formal condensation of the carboxy group of varespladib with methanol. It is a potential therapy for the treatment of snakebite envenomings in which toxicity depends on the action of PLA2s.


name: MAOX_HUMAN NADP-dependent malic enzyme (sprot)

description: An NADP-dependent malic enzyme that is encoded in the genome of human.


name: DZIP1_HUMAN Cilium assembly protein DZIP1 (sprot)

description: A cilium assembly protein DZIP1 that is encoded in the genome of human.


name: M1IP1_HUMAN Mid1-interacting protein 1 (sprot)

description: A Mid1-interacting protein 1 that is encoded in the genome of human.


chromosome 18q deletion syndrome

description: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.


Leydig cell tumor

description: A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.


name: MADD_HUMAN MAP kinase-activating death domain protein (sprot)

description: A MAP kinase-activating death domain protein that is encoded in the genome of human.


name: SPR2G_HUMAN Small proline-rich protein 2G (sprot)

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


scleredema adultorum

description: A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.


breast extraskeletal osteosarcoma

description: An osteosarcoma arising from the breast tissue.


name: DAND5_HUMAN DAN domain family member 5 (sprot)

description: A DAN domain family member 5 that is encoded in the genome of human.


name: KLDC2_HUMAN Kelch domain-containing protein 2 (sprot)

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


name: PPBN_HUMAN Alkaline phosphatase, germ cell type (sprot)

description: An alkaline phosphatase, germ cell type that is encoded in the genome of human.


SYT5_HUMAN Synaptotagmin-5 (sprot)

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


ECDYSONE

A 6-oxo steroid that is 5beta-cholest-7-en-6-one substituted by hydroxy groups at positions 2, 3, 14, 22 and 25 respectively (the 2beta, 3beta, 22R stereoisomer). It is a steroid prohormone of the major insect moulting hormone 20-hydroxyecdysone.


name: polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG

description: Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.


GAN_HUMAN Gigaxonin (sprot)

A gigaxonin that is encoded in the genome of human.


name: SIA8B_HUMAN Alpha-2,8-sialyltransferase 8B (sprot)

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


name: GNB1L_HUMAN Guanine nucleotide-binding protein subunit beta-like protein 1 (sprot)

description: A guanine nucleotide-binding protein subunit beta-like protein 1 that is encoded in the genome of human.


name: OR4E2_HUMAN Olfactory receptor 4E2 (sprot)

description: An olfactory receptor 4E2 that is encoded in the genome of human.


deafness, unilateral

description: A unilateral absence of sensory perception of sound.


PMM2_HUMAN Phosphomannomutase 2 (sprot)

A phosphomannomutase 2 that is encoded in the genome of human.


Anterior hypopituitarism

description: A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


name: MAP1A_HUMAN Microtubule-associated protein 1A (sprot)

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


name: ISOC1_HUMAN Isochorismatase domain-containing protein 1 (sprot)

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


sophoroside

Any glycoside of sophorose (2-O-beta-D-glucopyranosyl-D-glucopyranose).


DACH2_HUMAN Dachshund homolog 2 (sprot)

A dachshund homolog 2 that is encoded in the genome of human.


name: RPP25_HUMAN Ribonuclease P protein subunit p25 (sprot)

description: A ribonuclease P protein subunit p25 that is encoded in the genome of human.


name: T3JAM_HUMAN TRAF3-interacting JNK-activating modulator (sprot)

description: A TRAF3-interacting JNK-activating modulator that is encoded in the genome of human.


name: S2533_HUMAN Solute carrier family 25 member 33 (sprot)

description: A solute carrier family 25 member 33 that is encoded in the genome of human.


4-trifluoromethylbenzoic acid

A benzoic acid carrying a 4-trifluoromethyl substituent.


ferrous ammonium sulfate (anhydrous)

A compound of ammonium, iron and sulfate in which the ratio of ammonium to iron(2+) to sulfate ions is 2:1:2.


name: KCJ16_HUMAN Inward rectifier potassium channel 16 (sprot)

description: An inward rectifier potassium channel 16 that is encoded in the genome of human.


name: ARP21_HUMAN cAMP-regulated phosphoprotein 21 (sprot)

description: A cAMP-regulated phosphoprotein 21 that is encoded in the genome of human.


name: C2D1B_HUMAN Coiled-coil and C2 domain-containing protein 1B (sprot)

description: A coiled-coil and C2 domain-containing protein 1B that is encoded in the genome of human.


name: C2D1A_HUMAN Coiled-coil and C2 domain-containing protein 1A (sprot)

description: A coiled-coil and C2 domain-containing protein 1A that is encoded in the genome of human.


name: PSA5_HUMAN Proteasome subunit alpha type-5 (sprot)

description: A proteasome subunit alpha type-5 that is encoded in the genome of human.


HEPTADECANOIC ACID

A C17 saturated fatty acid and trace component of fats in ruminants.


mosapramine

A racemate comprising equimolar amounts of (R)- and (S)-mosapramine. It is a second-generation antipsychotic used for the treatment of schizophrenia.


ulotaront

A member of the class of thienopyrans that is 4,7-dihydro-5H-thieno[2,3-c]pyran substituted by a (methylamino)methyl at position 7S. It is a trace amine-associated receptor 1 and serotonin 5-HT1A receptors agonist that has demonstrated efficacy in the treatment of patients with schizophrenia.


IVABRADINE HYDROCHLORIDE

A hydrochloride obtained by combining ivabradine with one molar equivalent of hydrochloric acid. Used to treat patients with angina who have intolerance to beta blockers and/or heart failure.


phosphatidylethanolamine (P-20:0/18:1)

A phosphatidylethanolamine P-38:1 in which the 1-alkenyl group contains 20 carbons and no additional double bonds while the acyl group contains 18 carbons and 1 double bond.


name: KLH41_HUMAN Kelch-like protein 41 (sprot)

description: A kelch-like protein 41 that is encoded in the genome of human.


A 2-arylethylamine compound where the aryl moiety is 4-bromo-2,5-dimethoxyphenyl.


autosomal dominant cutis laxa

description: Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.


hypertrophic cardiomyopathy 14

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


name: RL21_HUMAN Large ribosomal subunit protein eL21 (sprot)

description: A large ribosomal subunit protein eL21 that is encoded in the genome of human.


testicular dysgenesis syndrome

description: A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.


mibolerone

An androgen that is nalandrone carrying two methyl substituents at positions 7alpha and 17.


subacute sclerosing panencephalitis

description: A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.


familial medullary thyroid carcinoma

description: An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.


name: GOGA3_HUMAN Golgin subfamily A member 3 (sprot)

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


name: PDPR_HUMAN Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial (sprot)

description: A pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial that is encoded in the genome of human.


name: SC5A6_HUMAN Sodium-dependent multivitamin transporter (sprot)

description: A sodium-dependent multivitamin transporter that is encoded in the genome of human.


name: UBP19_HUMAN Ubiquitin carboxyl-terminal hydrolase 19 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 19 that is encoded in the genome of human.


name: zinc-responsive necrolytic acral erythema


name: PITM3_HUMAN Membrane-associated phosphatidylinositol transfer protein 3 (sprot)

description: A membrane-associated phosphatidylinositol transfer protein 3 that is encoded in the genome of human.


chronic beryllium disease

description: Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.


name: VATA_HUMAN V-type proton ATPase catalytic subunit A (sprot)

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


name: TTC9A_HUMAN Tetratricopeptide repeat protein 9A (sprot)

description: A tetratricopeptide repeat protein 9A that is encoded in the genome of human.


BUTYLAMINE

A primary aliphatic amine that is butane substituted by an amino group at position 1.


TETN_HUMAN Tetranectin (sprot)

A tetranectin that is encoded in the genome of human.


macular corneal dystrophy

description: Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

description: Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.


gastric choriocarcinoma

description: A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.


name: NSUN5_HUMAN 28S rRNA (cytosine-C(5))-methyltransferase (sprot)

description: A 28S rRNA (cytosine-C(5))-methyltransferase that is encoded in the genome of human.


chlorothiazide

4H-1,2,4-benzothiadiazine 1,1-dioxide in which the hydrogen at position is substituted by chlorine and that at position 7 is substituted by a sulfonamide group. A diuretic, it is used for treatment of oedema and hypertension.


osteopetrosis

description: Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.


Hurler-Scheie syndrome

description: Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


nitrofurazone

A semicarbazone resulting from the formal condensation of semicarbazide with 5-nitrofuraldehyde. A broad spectrum antibacterial drug, although with little activity against Pseudomonas species, it is used as a local application for burns, ulcers, wounds and skin infections.


PKP3_HUMAN Plakophilin-3 (sprot)

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


name: GPR31_HUMAN 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor (sprot)

description: A 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor that is encoded in the genome of human.


Libman-Sacks endocarditis

description: An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


name: MRAP2_HUMAN Melanocortin-2 receptor accessory protein 2 (sprot)

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


nonobstructive coronary artery disease

description: A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.


name: EPC1_HUMAN Enhancer of polycomb homolog 1 (sprot)

description: An enhancer of polycomb homolog 1 that is encoded in the genome of human.


spondylocostal dysostosis

description: Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).


mediastinum teratoma

description: A teratoma that involves the mediastinum.


peptic esophagitis

description: Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.


name: SUCB1_HUMAN Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (sprot)

description: A succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial that is encoded in the genome of human.


zilucoplan

A 15 amino-acid, synthetic macrocyclic peptide with formula C172H278N24O55. Its sodium salt is used for the treatment of generalised myasthenia gravis (a disease that leads to muscle weakness and tiredness) in adults whose immune system produces antibodies against acetylcholine receptors.


immune-mediated necrotizing myopathy

description: Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.


name: Abnormal morphology of the vestibule of the inner ear

description: A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.


TSN18_HUMAN Tetraspanin-18 (sprot)

A tetraspanin-18 that is encoded in the genome of human.


name: IL12B_HUMAN Interleukin-12 subunit beta (sprot)

description: An interleukin-12 subunit beta that is encoded in the genome of human.


PLM_HUMAN Phospholemman (sprot)

A phospholemman that is encoded in the genome of human.


name: ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 (sprot)

description: A Rho guanine nucleotide exchange factor 4 that is encoded in the genome of human.


name: KKLC1_HUMAN Kita-kyushu lung cancer antigen 1 (sprot)

description: A Kita-kyushu lung cancer antigen 1 that is encoded in the genome of human.


cutaneous porphyria

description: Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.


Abnormal meiosis

description: Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.


name: NOVA2_HUMAN RNA-binding protein Nova-2 (sprot)

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


adrenogenital syndrome

description: Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


name: PRAF1_HUMAN Prenylated Rab acceptor protein 1 (sprot)

description: A prenylated Rab acceptor protein 1 that is encoded in the genome of human.


STAT_HUMAN Statherin (sprot)

A statherin that is encoded in the genome of human.


childhood ependymoma

description: An ependymoma that arises from the central nervous system and occurs during childhood.


name: STIM2_HUMAN Stromal interaction molecule 2 (sprot)

description: A stromal interaction molecule 2 that is encoded in the genome of human.


L-serine O-sulfate

A non-proteinogenic L-alpha-amino acid that is the O-sulfo derivative of L-serine.


Rabson-Mendenhall syndrome

description: Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).


name: ERIC3_HUMAN Glutamate-rich protein 3 (sprot)

description: A protein that is a translation product of the ERICH3 gene in human.


interdigitating dendritic cell sarcoma

description: A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)


metabolic myopathy

description: A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.


metachronous osteosarcoma of the bone

description: A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.


name: DYH5_HUMAN Dynein axonemal heavy chain 5 (sprot)

description: A dynein axonemal heavy chain 5 that is encoded in the genome of human.


name: LRRT1_HUMAN Leucine-rich repeat transmembrane neuronal protein 1 (sprot)

description: A leucine-rich repeat transmembrane neuronal protein 1 that is encoded in the genome of human.


name: MARF1_HUMAN Meiosis regulator and mRNA stability factor 1 (sprot)

description: A meiosis regulator and mRNA stability factor 1 that is encoded in the genome of human.


atrophic rhinitis

description: A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).


familial caudal dysgenesis

description: Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.


iclaprim

An aminopyrimidine that is 5-methylpyrimidine-2,4-diamine in which one of the hydrogens of the methyl group has been replaced by a 2-cyclopropyl-7,8-dimethoxy-2H-chromen-5-yl group.


Periportal fibrosis

description: The presence of fibrosis affecting the interlobular stroma of liver.


name: KI3L3_HUMAN Killer cell immunoglobulin-like receptor 3DL3 (sprot)

description: A killer cell immunoglobulin-like receptor 3DL3 that is encoded in the genome of human.


name: LX12B_HUMAN Arachidonate 12-lipoxygenase, 12R-type (sprot)

description: An arachidonate 12-lipoxygenase, 12R-type that is encoded in the genome of human.


name: mixed epithelial/mesenchymal metaplastic breast carcinoma

description: An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.


viral hemorrhagic fever

description: A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.


name: LIPR1_HUMAN Inactive pancreatic lipase-related protein 1 (sprot)

description: A pancreatic lipase-related protein 1 that is encoded in the genome of human.


high pressure neurological syndrome

description: A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.


taurocholate

An organosulfonate oxoanion that is the conjugate base of taurocholic acid.


diffuse pulmonary fibrosis

description: Diffuse replacement of the lung tissue by connective tissue.


name: SMAG2_HUMAN Protein Smaug homolog 2 (sprot)

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


thyroid crisis

description: Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.


name: PHS2_HUMAN Pterin-4-alpha-carbinolamine dehydratase 2 (sprot)

description: A pterin-4-alpha-carbinolamine dehydratase 2 that is encoded in the genome of human.


name: FKB14_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP14 (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP14 that is encoded in the genome of human.


pleurisy

description: Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.


name: MARC1_HUMAN Mitochondrial amidoxime-reducing component 1 (sprot)

description: A mitochondrial amidoxime-reducing component 1 that is encoded in the genome of human.


acetyldigitoxin

A cardenolide glycoside compound consisting of digitoxin having an acetyl substituent at the 3-position on the D-ribo-hexopyranosyl residue at the non-reducing end.


name: ZN410_HUMAN Zinc finger protein 410 (sprot)

description: A zinc finger protein 410 that is encoded in the genome of human.


trofinetide

A tripeptide comprising of glycine, 2-methyl-L-proline, and L-glutamic acid joined in sequence by peptide linkages.  It is the first and only treatment approved by the FDA specifically indicated for Rett syndrome in adults and pediatric patients two years of age and older.


ENAM_HUMAN Enamelin (sprot)

An enamelin that is encoded in the genome of human.


central nervous system lupus

description: Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.


geneticin

An aminoglycoside antibiotic produced by Micromonospora rhodorangea. It blocks polypeptide synthesis  by inhibiting the elongation step in both prokaryotic and eukaryotic cells.


name: C1TC_HUMAN C-1-tetrahydrofolate synthase, cytoplasmic (sprot)

description: A C-1-tetrahydrofolate synthase, cytoplasmic that is encoded in the genome of human.


eosinophilic granuloma

description: A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.


name: NDUS6_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial that is encoded in the genome of human.


name: BAALC_HUMAN Brain and acute leukemia cytoplasmic protein (sprot)

description: A brain and acute leukemia cytoplasmic protein that is encoded in the genome of human.


SNTG1_HUMAN Gamma-1-syntrophin (sprot)

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


name: EP3B_HUMAN Epididymal secretory protein E3-beta (sprot)

description: An epididymal secretory protein E3-beta that is encoded in the genome of human.


name: ARHGF_HUMAN Rho guanine nucleotide exchange factor 15 (sprot)

description: A Rho guanine nucleotide exchange factor 15 that is encoded in the genome of human.


papillary cystadenocarcinoma

description: A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.


tris(2-butoxyethyl) phosphate

A trialkyl phosphate in which the alkyl group specified is 2-butoxyethyl.


Hyperalbuminemia

description: Elevation in the concentration of albumin in the blood.


name: PPA6_HUMAN Lysophosphatidic acid phosphatase type 6 (sprot)

description: A lysophosphatidic acid phosphatase type 6 that is encoded in the genome of human.


name: EXOC6_HUMAN Exocyst complex component 6 (sprot)

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


Rift valley fever

description: Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.


name: MTG1_HUMAN Mitochondrial ribosome-associated GTPase 1 (sprot)

description: A mitochondrial ribosome-associated GTPase 1 that is encoded in the genome of human.


name: MTG2_HUMAN Mitochondrial ribosome-associated GTPase 2 (sprot)

description: A mitochondrial ribosome-associated GTPase 2 that is encoded in the genome of human.


name: PXDC2_HUMAN Plexin domain-containing protein 2 (sprot)

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


name: PLS2_HUMAN Phospholipid scramblase 2 (sprot)

description: A phospholipid scramblase 2 that is encoded in the genome of human.


description: X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.


name: GWL_HUMAN Serine/threonine-protein kinase greatwall (sprot)

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


childhood germ cell tumor

description: A germ cell tumor that occurs during childhood.


name: CLC4M_HUMAN C-type lectin domain family 4 member M (sprot)

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


NPAL3_HUMAN NIPA-like protein 3 (sprot)

A NIPA-like protein 3 that is encoded in the genome of human.


name: DDX49_HUMAN Probable ATP-dependent RNA helicase DDX49 (sprot)

description: A probable ATP-dependent RNA helicase DDX49 that is encoded in the genome of human.


name: PGPS1_HUMAN CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial (sprot)

description: A CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial that is encoded in the genome of human.


middle ear disorder

description: A disease involving the middle ear.


H12_HUMAN Histone H1.2 (sprot)

A histone H1.2 that is encoded in the genome of human.


name: MED24_HUMAN Mediator of RNA polymerase II transcription subunit 24 (sprot)

description: A mediator of RNA polymerase II transcription subunit 24 that is encoded in the genome of human.


hyperkalemic periodic paralysis

description: Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.


LMOD2_HUMAN Leiomodin-2 (sprot)

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


tasimelteon

A member of the class of 1-benzofurans that is propionamide in which one of the amide hydrogens is replaced by a [(1R,2R)-2-(2,3-dihydro-1-benzofuran-4-yl)cyclopropyl]methyl group. A melatonin receptor agonist used for the treatment of non-24-hour sleep-wake disorder.


HYCCI_HUMAN Hyccin (sprot)

A hyccin that is encoded in the genome of human.


name: LAAT1_HUMAN Lysosomal amino acid transporter 1 homolog (sprot)

description: A lysosomal amino acid transporter 1 homolog that is encoded in the genome of human.


CNS demyelination

description: A loss of myelin from nerve fibers in the central nervous system.


LMOD1_HUMAN Leiomodin-1 (sprot)

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


name: MCCB_HUMAN Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (sprot)

description: A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial that is encoded in the genome of human. The human MCCC2 gene contains 17 exons, and maps to the chromosomal location 5q12-q13.


Hyperuricosuria

description: An abnormally high level of uric acid in the urine.


name: I17RE_HUMAN Interleukin-17 receptor E (sprot)

description: An interleukin-17 receptor E that is encoded in the genome of human.


lung neuroendocrine neoplasm

description: A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.


Weakness of facial musculature

description: Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


name: DOXA2_HUMAN Dual oxidase maturation factor 2 (sprot)

description: A dual oxidase maturation factor 2 that is encoded in the genome of human.


name: ZN215_HUMAN Zinc finger protein 215 (sprot)

description: A zinc finger protein 215 that is encoded in the genome of human.


name: KRT83_HUMAN Keratin, type II cuticular Hb3 (sprot)

description: A keratin, type II cuticular Hb3 that is encoded in the genome of human.


FBX8_HUMAN F-box only protein 8 (sprot)

An F-box only protein 8 that is encoded in the genome of human.


name: T4S5_HUMAN Transmembrane 4 L6 family member 5 (sprot)

description: A transmembrane 4 L6 family member 5 that is encoded in the genome of human.


atypical lipomatous tumor

description: An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.


name: CEP72_HUMAN Centrosomal protein of 72 kDa (sprot)

description: A centrosomal protein of 72 kDa that is encoded in the genome of human.


name: PAR11_HUMAN Protein mono-ADP-ribosyltransferase PARP11 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP11 that is encoded in the genome of human.


name: PCOC1_HUMAN Procollagen C-endopeptidase enhancer 1 (sprot)

description: A procollagen C-endopeptidase enhancer 1 that is encoded in the genome of human.


hemoglobin H disease

description: Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).


name: SPX3_HUMAN Sugar phosphate exchanger 3 (sprot)

description: A sugar phosphate exchanger 3 that is encoded in the genome of human.


euthyroid sick syndrome

description: Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.


inborn organic aciduria

description: An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.


Generalized hypotonia

description: Generalized muscular hypotonia (abnormally low muscle tone).


name: LZTS2_HUMAN Leucine zipper putative tumor suppressor 2 (sprot)

description: A leucine zipper putative tumor suppressor 2 that is encoded in the genome of human.


dichlorobenzyl alcohol

A member of the class of benzyl alcohols that is benzyl alcohol in which the hydrogens at positions 2 and 4 are replaced by chlorines.


name: OR2W1_HUMAN Olfactory receptor 2W1 (sprot)

description: An olfactory receptor 2W1 that is encoded in the genome of human.


name: VP13C_HUMAN Intermembrane lipid transfer protein VPS13C (sprot)

description: An intermembrane lipid transfer protein VPS13C that is encoded in the genome of human.


chemical colitis

description: A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.


name: PIGA_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (sprot)

description: An N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein that is encoded in the genome of human.


name: anti-glomerular basement membrane disease

description: An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.


CLOVES syndrome

description: A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.


name: CPPED_HUMAN Serine/threonine-protein phosphatase CPPED1 (sprot)

description: A serine/threonine-protein phosphatase CPPED1 that is encoded in the genome of human.


name: NOMO1_HUMAN BOS complex subunit NOMO1 (sprot)

description: A BOS complex subunit NOMO1 that is encoded in the genome of human.


name: PPR26_HUMAN Protein phosphatase 1 regulatory subunit 26 (sprot)

description: A protein phosphatase 1 regulatory subunit 26 that is encoded in the genome of human.


name: VISL1_HUMAN Visinin-like protein 1 (sprot)

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


name: LRAD3_HUMAN Low-density lipoprotein receptor class A domain-containing protein 3 (sprot)

description: A low-density lipoprotein receptor class A domain-containing protein 3 that is encoded in the genome of human.


malignant syringoma

description: A malignant form of syringoma.


name: PPP5_HUMAN Serine/threonine-protein phosphatase 5 (sprot)

description: A serine/threonine-protein phosphatase 5 that is encoded in the genome of human.


name: SMRD2_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 (sprot)

description: A SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 that is encoded in the genome of human.


name: TBKB1_HUMAN TANK-binding kinase 1-binding protein 1 (sprot)

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


name: HPLN4_HUMAN Hyaluronan and proteoglycan link protein 4 (sprot)

description: A hyaluronan and proteoglycan link protein 4 that is encoded in the genome of human.


name: ANS4B_HUMAN Ankyrin repeat and SAM domain-containing protein 4B (sprot)

description: An ankyrin repeat and SAM domain-containing protein 4B that is encoded in the genome of human.


name: nephrogenic syndrome of inappropriate antidiuresis

description: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.


Hyperhomocystinemia

description: An increased concentration of homocystine in the blood.


bullous systemic lupus erythematosus

description: A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.


name: RANB3_HUMAN Ran-binding protein 3 (sprot)

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


Liddle syndrome

description: A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.


UROM_HUMAN Uromodulin (sprot)

A uromodulin that is encoded in the genome of human.


muscle tissue disorder

description: A disease involving the muscle tissue.


autoimmune limbic encephalitis

description: A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.


name: FBXL8_HUMAN F-box/LRR-repeat protein 8 (sprot)

description: An F-box/LRR-repeat protein 8 that is encoded in the genome of human.


acrocallosal syndrome

description: Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


congenital analbuminemia

description: Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).


name: CPSF1_HUMAN Cleavage and polyadenylation specificity factor subunit 1 (sprot)

description: A cleavage and polyadenylation specificity factor subunit 1 that is encoded in the genome of human.


name: CRBG3_HUMAN Very large A-kinase anchor protein (sprot)

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


thrombocytopenia 5

description: Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.


butyrylcholinesterase deficiency

description: Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.


name: KCNE5_HUMAN Potassium voltage-gated channel subfamily E regulatory beta subunit 5 (sprot)

description: A potassium voltage-gated channel subfamily E regulatory beta subunit 5 that is encoded in the genome of human.


telatinib

A member of the class of furopyridazines that is furo[2,3-d]pyridazine substituted by (4-chlorophenyl)amino and [2-(methylcarbamoyl)pyridin-4-yl]methoxy groups at positions 4 and 7, respectively. It is a potent inhibitor of VEGFR2/3, c-Kit and PDGFRalpha.


ATX7_HUMAN Ataxin-7 (sprot)

An ataxin-7 that is encoded in the genome of human.


name: COA8_HUMAN Cytochrome c oxidase assembly factor 8 (sprot)

description: A cytochrome c oxidase assembly factor 8 that is encoded in the genome of human.


name: LYZL4_HUMAN Lysozyme-like protein 4 (sprot)

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


nail-patella syndrome

description: A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.


acute proliferative glomerulonephritis

description: Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.


DSC2_HUMAN Desmocollin-2 (sprot)

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


Papillon-Lefevre disease

description: Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.


heart neoplasm

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


meconium aspiration syndrome

description: A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.


name: RAB44_HUMAN Ras-related protein Rab-44 (sprot)

description: A Ras-related protein Rab-44 that is encoded in the genome of human.


EST3_HUMAN Carboxylesterase 3 (sprot)

A carboxylesterase 3 that is encoded in the genome of human.


name: DBF4B_HUMAN Protein DBF4 homolog B (sprot)

description: A protein DBF4 homolog B that is encoded in the genome of human.


neoplasm of mature B-cells

description: A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).


oxaprozin

A monocarboxylic acid that is a propionic acid derivative having a 4,5-diphenyl-1,3-oxazol-2-yl substituent at position 3. It is  non-steroidal anti-inflammatory drug commonly used to relieve the pain and inflammatory responses associated with osteoarthritis and rheumatoid arthritis.


A beta-lactone proteasome inhibitor derived from lactacystin.


middle cerebral artery infarction

description: Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.


secondary trimethylaminuria

description: A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.


trilateral retinoblastoma

description: Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).


name: multicentric osteolysis, nodulosis, and arthropathy

description: A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.


name: TOM7_HUMAN Mitochondrial import receptor subunit TOM7 homolog (sprot)

description: A mitochondrial import receptor subunit TOM7 that is encoded in the genome of human.


name: EFR3A_HUMAN Protein EFR3 homolog A (sprot)

description: A protein EFR3 homolog A that is encoded in the genome of human.


name: IPKA_HUMAN cAMP-dependent protein kinase inhibitor alpha (sprot)

description: A cAMP-dependent protein kinase inhibitor alpha that is encoded in the genome of human.


pavinetant

A member of the class of quinolines that is the amide obtained by formal condensation of the carboxy group of 3-[(methanesulfonyl)amino]-2-phenylquinoline-4-carboxylic acid with the amino group of (1S)-1-phenylpropan-1-amine. A neurokinin-3 receptor antagonist that has been trialled as a potential drug for treatment of schizophrenia and menopausal symptoms.


SNTB2_HUMAN Beta-2-syntrophin (sprot)

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


name: CRAC1_HUMAN Cartilage acidic protein 1 (sprot)

description: A cartilage acidic protein 1 that is encoded in the genome of human.


Moderate proteinuria

description: Moderately increased levels of protein in the urine (500-1000 mg per day in adults).


name: METRL_HUMAN Meteorin-like protein (sprot)

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


cholinergic urticaria

description: A type of physical urticarias (or hives) that appears when a person is sweating.


name: familial partial lipodystrophy, Dunnigan type

description: Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.


name: KCAB1_HUMAN Voltage-gated potassium channel subunit beta-1 (sprot)

description: A voltage-gated potassium channel subunit beta-1 that is encoded in the genome of human.


TPD54_HUMAN Tumor protein D54 (sprot)

A tumor protein D54 that is encoded in the genome of human.


VILAZODONE HYDROCHLORIDE

A hydrochloride obtained by reaction of vilazodone with one equivalent of hydrochloric acid. Used for the treatment of major depressive disorder.


name: CRLF3_HUMAN Cytokine receptor-like factor 3 (sprot)

description: A cytokine receptor-like factor 3 that is encoded in the genome of human.


D-proline

The D-enantiomer of proline.


antisocial personality disorder

description: A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)


name: ARP6_HUMAN Actin-related protein 6 (sprot)

description: An actin-related protein 6 that is encoded in the genome of human.


SPIN1_HUMAN Spindlin-1 (sprot)

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


name: RAPH1_HUMAN Ras-associated and pleckstrin homology domains-containing protein 1 (sprot)

description: A Ras-associated and pleckstrin homology domains-containing protein 1 that is encoded in the genome of human.


infectious encephalitis

description: An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


polyneuritis

description: Inflammation of several peripheral nerves.


bartonellosis

description: An infectious disease produced by bacteria of the genus Bartonella.


hyperinsulinism-hyperammonemia syndrome

description: Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.


name: NKG2F_HUMAN NKG2-F type II integral membrane protein (sprot)

description: An NKG2-F type II integral membrane protein that is encoded in the genome of human.


intermediate uveitis

description: Inflammation of the pars plana.


name: NT5D2_HUMAN 5'-nucleotidase domain-containing protein 2 (sprot)

description: A 5'-nucleotidase domain-containing protein 2 that is encoded in the genome of human.


ERMIN_HUMAN Ermin (sprot)

An ermin that is encoded in the genome of human.


D-glucose

A glucopyranose having D-configuration.


name: ZNF17_HUMAN Zinc finger protein 17 (sprot)

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


name: NSE2_HUMAN E3 SUMO-protein ligase NSE2 (sprot)

description: An E3 SUMO-protein ligase NSE2 that is encoded in the genome of human.


name: LSHB_HUMAN Lutropin subunit beta (sprot)

description: A lutropin subunit beta that is encoded in the genome of human.


name: CNBP_HUMAN CCHC-type zinc finger nucleic acid binding protein (sprot)

description: A CCHC-type zinc finger nucleic acid binding protein that is encoded in the genome of human.


urticaria, aquagenic

description: Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.


atypical coarctation of aorta

description: Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).


name: KITH_HUMAN Thymidine kinase, cytosolic (sprot)

description: A thymidine kinase, cytosolic that is encoded in the genome of human.


name: TPP2_HUMAN Tripeptidyl-peptidase 2 (sprot)

description: A tripeptidyl-peptidase 2 that is encoded in the genome of human.


name: LAP4A_HUMAN Lysosomal-associated transmembrane protein 4A (sprot)

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


name: X-linked dominant hypophosphatemic rickets

description: X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.


TCO2_HUMAN Transcobalamin-2 (sprot)

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


Aggressive behavior

description: Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).


NAPHTHOIC ACID

A naphthoic acid carrying a carboxy group at position 1.


MLX_HUMAN Max-like protein X (sprot)

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


name: hereditary hypophosphatemic rickets with hypercalciuria

description: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.


name: continuous spikes and waves during sleep

description: Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.


name: SPAS2_HUMAN Spermatogenesis-associated serine-rich protein 2 (sprot)

description: A spermatogenesis-associated serine-rich protein 2 that is encoded in the genome of human.


alopecia totalis

description: Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


name: NCAN_HUMAN Neurocan core protein (sprot)

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


ovarian epithelial tumor

description: A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.


urethra clear cell adenocarcinoma

description: A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.


name: ARK72_HUMAN Aflatoxin B1 aldehyde reductase member 2 (sprot)

description: An aflatoxin B1 aldehyde reductase member 2 that is encoded in the genome of human.


name: RN128_HUMAN E3 ubiquitin-protein ligase RNF128 (sprot)

description: An E3 ubiquitin-protein ligase RNF128 that is encoded in the genome of human.


name: TRI17_HUMAN E3 ubiquitin-protein ligase TRIM17 (sprot)

description: An E3 ubiquitin-protein ligase TRIM17 that is encoded in the genome of human.


renal hypertension

description: Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.


name: RPB7_HUMAN DNA-directed RNA polymerase II subunit RPB7 (sprot)

description: A DNA-directed RNA polymerase II subunit RPB7 that is encoded in the genome of human.