efinaconazole

A member of the class of triazoles that is butan-2-ol which is substituted at positions 1, 2, and 3 by 1,2,4-triazol-1-yl, 2,4-difluorophenyl, and 4-methylenepiperidin-1-yl groups, respectively (the 2R,3R stereoisomer). It is an antifungal drug used for the topical treatment of onychomycosis (a nail infection caused mainly by dermatophytes).


name: TCAL8_HUMAN Transcription elongation factor A protein-like 8 (sprot)

description: A transcription elongation factor A protein-like 8 that is encoded in the genome of human.


EPIPL_HUMAN Epiplakin (sprot)

An epiplakin that is encoded in the genome of human.


Abnormality of the dentition

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

description: Any abnormality of the teeth.


An ammonium betaine that is the conjugate base of 3-dehydrocarnitinium; major species at pH 7.3.


selenodiglutathione

A thioselenide in which a selenium atom is attached to the sulfur atoms of two molecules of glutathione. It is an initial metabolite of selenite, SeO3(2-).


name: IL36G_HUMAN Interleukin-36 gamma (sprot)

description: An interleukin-1 family member 9 that is encoded in the genome of human.


name: STXB2_HUMAN Syntaxin-binding protein 2 (sprot)

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


name: CCD69_HUMAN Coiled-coil domain-containing protein 69 (sprot)

description: A coiled-coil domain-containing protein 69 that is encoded in the genome of human.


name: PAR16_HUMAN Protein mono-ADP-ribosyltransferase PARP16 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP16 that is encoded in the genome of human.


grade II glioma

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

description: A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.


name: S15A3_HUMAN Solute carrier family 15 member 3 (sprot)

description: A solute carrier family 15 member 3 that is encoded in the genome of human.


conduritol B epoxide

A racemate comprising the 1-D- and 1-L- enantiomers of 1,2-anhydro-myo-inositol.


name: FRAS1_HUMAN Extracellular matrix organizing protein FRAS1 (sprot)

description: An extracellular matrix organizing protein FRAS1 that is encoded in the genome of human.


name: PRD10_HUMAN PR domain zinc finger protein 10 (sprot)

description: A PR domain zinc finger protein 10 that is encoded in the genome of human.


name: periodic fever-infantile enterocolitis-autoinflammatory syndrome


name: P66B_HUMAN Transcriptional repressor p66-beta (sprot)

description: A transcriptional repressor p66-beta that is encoded in the genome of human.


Abnormality of the genitourinary system

description: The presence of any abnormality of the genitourinary system.


mesenchymal glioblastoma

description: A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.


Proteus syndrome

description: Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.


CYCLOHEXANONE

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


vaginal squamous cell carcinoma

description: A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease.


hydrocortisone succinate

A derivative of succinic acid in which one of the carboxy groups is esterified by the C-21 hydroxy group of cortisol (hydrocortisone).


name: SL9A7_HUMAN Sodium/hydrogen exchanger 7 (sprot)

description: A sodium/hydrogen exchanger 7 that is encoded in the genome of human.


name: DMRTA_HUMAN Doublesex- and mab-3-related transcription factor A1 (sprot)

description: A doublesex- and mab-3-related transcription factor A1 that is encoded in the genome of human.


1,2-dimethylhydrazine dihydrochloride

A hydrochloride resulting from the reaction of 1,2,dimethylhydrazine with 2 mol eq. of hydrogen chloride.


24(S), 25-epoxycholesterol

A 3beta-hydroxy-Delta(5)-steroid that is desmosterol in which the double bond at position 24-25 has been oxidised to the corresponding epoxide (the 24S diastereoisomer). It is an oxysterol agonist of the liver X receptor.


name: PC4L1_HUMAN Purkinje cell protein 4-like protein 1 (sprot)

description: A Purkinje cell protein 4-like protein 1 that is encoded in the genome of human.


name: CABIN_HUMAN Calcineurin-binding protein cabin-1 (sprot)

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


name: RAX2_HUMAN Retina and anterior neural fold homeobox protein 2 (sprot)

description: A retina and anterior neural fold homeobox protein 2 that is encoded in the genome of human.


SYMPK_HUMAN Symplekin (sprot)

A symplekin that is encoded in the genome of human.


SEGN_HUMAN Secretagogin (sprot)

A secretagogin that is encoded in the genome of human.


malignant breast phyllodes tumor

description: A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.


name: BCAR3_HUMAN Breast cancer anti-estrogen resistance protein 3 (sprot)

description: A breast cancer anti-estrogen resistance protein 3 that is encoded in the genome of human.


name: ANR37_HUMAN Ankyrin repeat domain-containing protein 37 (sprot)

description: An ankyrin repeat domain-containing protein 37 that is encoded in the genome of human.


name: AT11A_HUMAN Phospholipid-transporting ATPase IH (sprot)

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


Purine bearing a methyl substituent at position 6.


name: GSG1L_HUMAN Germ cell-specific gene 1-like protein (sprot)

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


pediatric lymphoma

description: A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.


CSKI1_HUMAN Caskin-1 (sprot)

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


name: KMCP1_HUMAN Kidney mitochondrial carrier protein 1 (sprot)

description: A kidney mitochondrial carrier protein 1 that is encoded in the genome of human.


name: AHRR_HUMAN Aryl hydrocarbon receptor repressor (sprot)

description: An aryl hydrocarbon receptor repressor that is encoded in the genome of human.


name: PCP_HUMAN Lysosomal Pro-X carboxypeptidase (sprot)

description: A lysosomal Pro-X carboxypeptidase that is encoded in the genome of human.


name: PYGL_HUMAN Glycogen phosphorylase, liver form (sprot)

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


name: LCAT_HUMAN Phosphatidylcholine-sterol acyltransferase (sprot)

description: A phosphatidylcholine-sterol acyltransferase that is encoded in the genome of human.


name: XPP3_HUMAN Xaa-Pro aminopeptidase 3 (sprot)

description: An Xaa-Pro aminopeptidase 3 that is encoded in the genome of human.


name: CD3G_HUMAN T-cell surface glycoprotein CD3 gamma chain (sprot)

description: A CD3 gamma that is encoded in the genome of human.


conjunctival squamous cell carcinoma

description: A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.


mitochondrial DNA depletion syndrome

description: The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.


multicentric reticulohistiocytosis

description: Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.


CETN2_HUMAN Centrin-2 (sprot)

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


fibroblastic neoplasm

description: A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.


BAICALEIN TRIMETHYL ETHER

A trimethoxyflavone that is the 5,6,7-trimethyl ether derivative of baicalein. It has been isolated from the plant Callicarpa japonica and has been shown to exhibit antiviral activity.


name: PKHM1_HUMAN Pleckstrin homology domain-containing family M member 1 (sprot)

description: A pleckstrin homology domain-containing family M member 1 that is encoded in the genome of human.


name: HPSE2_HUMAN Inactive heparanase-2 (sprot)

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


spinal muscular atrophy, type III

description: Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


perindoprilat

A dipeptide obtained by formal condensation of one of the carboxy groups of N-[(1S)-1-carboxyethyl]-L-norvaline with the amino group of (2S,3aS,7aS)-octahydroindole-2-carboxylic acid. The major active metabolite of perindopril.


name: SRS12_HUMAN Serine/arginine-rich splicing factor 12 (sprot)

description: A serine/arginine-rich splicing factor 12 that is encoded in the genome of human.


oncocytic adenoma

description: A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.


apraxia

description: Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.


benzonatate

The ester obtained by formal condensation of 4-butylaminobenzoic acid with nonaethylene glycol monomethyl ether. Structurally related to procaine and benzocaine, it has an anaesthetic effect on the stretch sensors in the lungs, and is used as a non-narcotic cough suppressant.


vanillin

A member of the class of benzaldehydes carrying methoxy and hydroxy substituents at positions 3 and 4 respectively.


ITSN1_HUMAN Intersectin-1 (sprot)

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


cefaclor

A cephalosporin bearing chloro and (R)-2-amino-2-phenylacetamido groups at positions 3 and 7, respectively, of the cephem skeleton.


The conjugate base of 2-aminoacrylic acid; major species at pH 7.3.


tinea infection

description: A skin infection caused by a fungus.


sweat gland carcinoma

description: A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.


name: SETMR_HUMAN Histone-lysine N-methyltransferase SETMAR (sprot)

description: A histone-lysine N-methyltransferase SETMAR that is encoded in the genome of human.


CHODL_HUMAN Chondrolectin (sprot)

A chondrolectin that is encoded in the genome of human.


name: RBM7_HUMAN RNA-binding protein 7 (sprot)

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


name: ZCHC8_HUMAN Zinc finger CCHC domain-containing protein 8 (sprot)

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


name: TMM59_HUMAN Transmembrane protein 59 (sprot)

description: A transmembrane protein 59 that is encoded in the genome of human.


name: PHKG2_HUMAN Phosphorylase b kinase gamma catalytic chain, liver/testis isoform (sprot)

description: A phosphorylase b kinase gamma catalytic chain, liver/testis isoform that is encoded in the genome of human.


necrotizing scleritis

description: A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.


name: CK040_HUMAN Putative uncharacterized protein C11orf40 (sprot)

description: A protein that is a translation product of the C11orf40 gene in human.


name: KLH40_HUMAN Kelch-like protein 40 (sprot)

description: A kelch-like protein 40 that is encoded in the genome of human.


name: UB2E2_HUMAN Ubiquitin-conjugating enzyme E2 E2 (sprot)

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


name: IF4A1_HUMAN Eukaryotic initiation factor 4A-I (sprot)

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


Focal cortical dysplasia

description: A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


HYDRALAZINE HYDROCHLORIDE

The hydrochloride salt of hydralazine; a direct-acting vasodilator that is used as an antihypertensive agent.


Progressive cataract

description: A kind of cataract that progresses with age.


name: 5HT4R_HUMAN 5-hydroxytryptamine receptor 4 (sprot)

description: A 5-hydroxytryptamine receptor 4 that is encoded in the genome of human.


name: TRIM2_HUMAN Tripartite motif-containing protein 2 (sprot)

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


cefatrizine

A cephalosporin compound having (1H-1,2,3-triazol-4-ylsulfanyl)methyl and [(2R)-2-amino-2-(4-hydroxyphenyl)]acetamido side-groups. An antibacterial drug first prepared in the 1970s, it has more recently been found to be an inhibitor of eukaryotic elongation factor-2 kinase (eEF2K), which is known to regulate apoptosis, autophagy and ER stress in many types of human cancers.


name: MPZL3_HUMAN Myelin protein zero-like protein 3 (sprot)

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


name: SELT_HUMAN Thioredoxin reductase-like selenoprotein T (sprot)

description: A thioredoxin reductase-like selenoprotein T that is encoded in the genome of human.


name: ZN875_HUMAN Zinc finger protein 875 (sprot)

description: A zinc finger protein 875 that is encoded in the genome of human.


name: ZSC18_HUMAN Zinc finger and SCAN domain-containing protein 18 (sprot)

description: A zinc finger and SCAN domain-containing protein 18 that is encoded in the genome of human.


name: MAGT1_HUMAN Magnesium transporter protein 1 (sprot)

description: A magnesium transporter protein 1 that is encoded in the genome of human.


uterine disorder

description: A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.


name: CCHCR_HUMAN Coiled-coil alpha-helical rod protein 1 (sprot)

description: A coiled-coil alpha-helical rod protein 1 that is encoded in the genome of human.


female reproductive system neoplasm

description: A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


name: GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 3 (sprot)

description: A G protein-regulated inducer of neurite outgrowth 3 that is encoded in the genome of human.


GAMMA-CYCLODEXTRIN

A cycloamylose composed of eight alpha-(1->4) linked D-glucopyranose units.


name: DHRS7_HUMAN Dehydrogenase/reductase SDR family member 7 (sprot)

description: A dehydrogenase/reductase SDR family member 7 that is encoded in the genome of human.


name: FA7_HUMAN Coagulation factor VII (sprot)

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


name: GMFB_HUMAN Glia maturation factor beta (sprot)

description: A glia maturation factor beta that is encoded in the genome of human.


dexfenfluramine

The S-enantiomer of fenfluramine. It stimulates the release of serotonin and selectively inhibits its reuptake, but unlike fenfluramine it does not possess catecholamine agonist activity. It was formerly given by mouth as the hydrochloride in the treatment of obesity, but, like fenfluramine, was withdrawn wolrdwide following reports of valvular heart defects.


Severe albuminuria

description: The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).


heart cancer

description: A malignant neoplasm involving the heart


name: FOXL1_HUMAN Forkhead box protein L1 (sprot)

description: A forkhead box protein L1 that is encoded in the genome of human.


name: HXD1_HUMAN Homeobox protein Hox-D1 (sprot)

description: A homeobox protein Hox-D1 that is encoded in the genome of human.


name: S12A6_HUMAN Solute carrier family 12 member 6 (sprot)

description: A solute carrier family 12 member 6 that is encoded in the genome of human.


Hypophosphaturia

description: An abnormally decreased phosphate concentration in the urine.


name: HERC5_HUMAN E3 ISG15--protein ligase HERC5 (sprot)

description: An E3 ISG15--protein ligase HERC5 that is encoded in the genome of human.


allylic alcohol

An alcohol where the hydroxy group is attached to a saturated carbon atom adjacent to a double bond (R groups may be H, organyl, etc.).


name: FREM1_HUMAN FRAS1-related extracellular matrix protein 1 (sprot)

description: A FRAS1-related extracellular matrix protein 1 that is encoded in the genome of human.


esthesioneuroblastoma

description: A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.


name: WSB2_HUMAN WD repeat and SOCS box-containing protein 2 (sprot)

description: A WD repeat and SOCS box-containing protein 2 that is encoded in the genome of human.


name: PRUN2_HUMAN Protein prune homolog 2 (sprot)

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


kidney medullary carcinoma

description: A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.


name: ABCB7_HUMAN Iron-sulfur clusters transporter ABCB7, mitochondrial (sprot)

description: An iron-sulfur clusters transporter ABCB7, mitochondrial that is encoded in the genome of human.


name: AUP1_HUMAN Lipid droplet-regulating VLDL assembly factor AUP1 (sprot)

description: A lipid droplet-regulating VLDL assembly factor AUP1 that is encoded in the genome of human.


name: GEMI4_HUMAN Gem-associated protein 4 (sprot)

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


rumination disorder

description: Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.


Severe sensorineural hearing impairment

description: A severe form of sensorineural hearing impairment.


name: PGRP3_HUMAN Peptidoglycan recognition protein 3 (sprot)

description: A peptidoglycan recognition protein 3 that is encoded in the genome of human.


name: PI51B_HUMAN Phosphatidylinositol 4-phosphate 5-kinase type-1 beta (sprot)

description: A phosphatidylinositol 4-phosphate 5-kinase type-1 beta that is encoded in the genome of human.


USH2A_HUMAN Usherin (sprot)

An usherin that is encoded in the genome of human.


Generalized lymphadenopathy

description: A generalized form of lymphadenopathy.


mild heart failure

description: Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.


name: FKBP9_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP9 (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP9 that is encoded in the genome of human.


name: RHGBA_HUMAN Rho GTPase-activating protein 11A (sprot)

description: A Rho GTPase-activating protein 11A that is encoded in the genome of human.


name: CNOT9_HUMAN CCR4-NOT transcription complex subunit 9 (sprot)

description: A CCR4-NOT transcription complex subunit 9 that is encoded in the genome of human.


name: WDR4_HUMAN tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 (sprot)

description: A tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 that is encoded in the genome of human.


name: TMCO1_HUMAN Calcium load-activated calcium channel (sprot)

description: A calcium load-activated calcium channel that is encoded in the genome of human.


name: ZN426_HUMAN Zinc finger protein 426 (sprot)

description: A zinc finger protein 426 that is encoded in the genome of human.


coloboma

description: An abnormality in which a part of a structure in one or both eyes is missing.


name: KIF3C_HUMAN Kinesin-like protein KIF3C (sprot)

description: A kinesin-like protein KIF3C that is encoded in the genome of human.


autoimmune polyendocrinopathy type 2

description: Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.


multiple endocrine neoplasia type 2B

description: Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.


Speech apraxia

description: A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


karyomegalic interstitial nephritis

description: Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.


name: STIL_HUMAN SCL-interrupting locus protein (sprot)

description: An SCL-interrupting locus protein that is encoded in the genome of human.


spinal cord cancer

description: A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.


CTNA3_HUMAN Catenin alpha-3 (sprot)

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


name: CITE4_HUMAN Cbp/p300-interacting transactivator 4 (sprot)

description: A Cbp/p300-interacting transactivator 4 that is encoded in the genome of human.


pyridine N-oxide

The pyridine N-oxide derived from the parent pyridine. It is a drug metabolite of the antihypertensive agent pinacidil.


name: ATRIP_HUMAN ATR-interacting protein (sprot)

description: An ATR-interacting protein that is encoded in the genome of human.


name: B3A3_HUMAN Anion exchange protein 3 (sprot)

description: An anion exchange protein 3 that is encoded in the genome of human.


name: BOD1_HUMAN Biorientation of chromosomes in cell division protein 1 (sprot)

description: A biorientation of chromosomes in cell division protein 1 that is encoded in the genome of human.


name: DYR1B_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 1B (sprot)

description: A dual specificity tyrosine-phosphorylation-regulated kinase 1B that is encoded in the genome of human.


name: TIMD4_HUMAN T-cell immunoglobulin and mucin domain-containing protein 4 (sprot)

description: A T-cell immunoglobulin and mucin domain-containing protein 4 that is encoded in the genome of human.


name: CGT_HUMAN 2-hydroxyacylsphingosine 1-beta-galactosyltransferase (sprot)

description: A 2-hydroxyacylsphingosine 1-beta-galactosyltransferase that is encoded in the genome of human.


name: CPED1_HUMAN Cadherin-like and PC-esterase domain-containing protein 1 (sprot)

description: A cadherin-like and PC-esterase domain-containing protein 1 that is encoded in the genome of human.


name: PRP8_HUMAN Pre-mRNA-processing-splicing factor 8 (sprot)

description: A pre-mRNA-processing-splicing factor 8 that is encoded in the genome of human.


name: F210B_HUMAN Protein FAM210B, mitochondrial (sprot)

description: A protein FAM210B, mitochondrial that is encoded in the genome of human.


telavancin

A glycopeptide that is vancomycin substituted at position N-3'' by a 2-(decylamino)ethyl group and at position C-29 by a (phosphonomethyl)aminomethyl group. Used as its hydrochloride salt for treatment of adults with complicated skin and skin structure infections caused by bacteria.


name: central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

description: A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.


MLN_HUMAN Myoregulin (sprot)

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


newborn respiratory distress syndrome

description: A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.


aprocitentan

A member of the class of sulfamides in which one of the amino groups of sulfonamide is substituted by a 5-(4-bromophenyl)-6-{2-[(5-bromopyrimidin-2-yl)oxy]ethoxy}pyrimidin-4-yl group. An active metabolite of macitentan (obtained by oxidative depropylation), an orphan drug used for the treatment of pulmonary arterial hypertension.


name: ZNRF2_HUMAN E3 ubiquitin-protein ligase ZNRF2 (sprot)

description: An E3 ubiquitin-protein ligase ZNRF2 that is encoded in the genome of human.


name: KRIP1_HUMAN Putative protein KRIP1 (sprot)

description: A putative protein KRIP1 that is encoded in the genome of human.


name: ARPC5_HUMAN Actin-related protein 2/3 complex subunit 5 (sprot)

description: An actin-related protein 2/3 complex subunit 5 that is encoded in the genome of human.


name: KLD10_HUMAN Kelch domain-containing protein 10 (sprot)

description: A kelch domain-containing protein 10 that is encoded in the genome of human.


communicating hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


name: PDE3A_HUMAN cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A (sprot)

description: A cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A that is encoded in the genome of human.


ARSH_HUMAN Arylsulfatase H (sprot)

An arylsulfatase H that is encoded in the genome of human.


name: ESCO2_HUMAN N-acetyltransferase ESCO2 (sprot)

description: An N-acetyltransferase ESCO2 that is encoded in the genome of human.


name: CND1_HUMAN Condensin complex subunit 1 (sprot)

description: A condensin complex subunit 1 that is encoded in the genome of human.


progressive bulbar palsy

description: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


ceric oxide

A metal oxide with formula CeO2. It is used for polishing glass, in coatings for infra-red filters to prevent reflection, and as an oxidant and catalyst in organic synthesis.


3,4-dihydroxymandelic acid

A catechol that is the 3,4-dihydroxy derivative of mandelic acid; a metabolite of L-dopa.


name: RBP10_HUMAN Ran-binding protein 10 (sprot)

description: A Ran-binding protein 10 that is encoded in the genome of human.


A nickel cation in which the nickel carries a double positive charge.


SCOPOLETIN

A hydroxycoumarin that is umbelliferone bearing a methoxy substituent at position 6.


name: G6PC3_HUMAN Glucose-6-phosphatase 3 (sprot)

description: A glucose-6-phosphatase 3 that is encoded in the genome of human.


name: EIF3I_HUMAN Eukaryotic translation initiation factor 3 subunit I (sprot)

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


mastocytoma

description: A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.


name: G6PE_HUMAN GDH/6PGL endoplasmic bifunctional protein (sprot)

description: A GDH/6PGL endoplasmic bifunctional protein that is encoded in the genome of human.


name: JKIP2_HUMAN Janus kinase and microtubule-interacting protein 2 (sprot)

description: A Janus kinase and microtubule-interacting protein 2 that is encoded in the genome of human.


name: PKHG3_HUMAN Pleckstrin homology domain-containing family G member 3 (sprot)

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


protein S deficiency

description: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.


name: FBW1B_HUMAN F-box/WD repeat-containing protein 11 (sprot)

description: An F-box/WD repeat-containing protein 11 that is encoded in the genome of human.


name: TM52B_HUMAN Transmembrane protein 52B (sprot)

description: A transmembrane protein 52B that is encoded in the genome of human.


description: Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.


hemangiopericytoma

description: An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.


Cutaneous telangiectasia

description: Dilated blood vessels on the skin.


name: ACHB_HUMAN Acetylcholine receptor subunit beta (sprot)

description: An acetylcholine receptor subunit beta that is encoded in the genome of human.


thalassemia minor

description: The inheritance of only one mutated beta-globin allele (beta+ or beta0).


name: MED19_HUMAN Mediator of RNA polymerase II transcription subunit 19 (sprot)

description: A mediator of RNA polymerase II transcription subunit 19 that is encoded in the genome of human.


KGUA_HUMAN Guanylate kinase (sprot)

A guanylate kinase that is encoded in the genome of human.


name: TRPT1_HUMAN tRNA 2'-phosphotransferase 1 (sprot)

description: A tRNA 2'-phosphotransferase 1 that is encoded in the genome of human.


name: INT8_HUMAN Integrator complex subunit 8 (sprot)

description: An integrator complex subunit 8 that is encoded in the genome of human.


name: PP12C_HUMAN Protein phosphatase 1 regulatory subunit 12C (sprot)

description: A protein phosphatase 1 regulatory subunit 12C that is encoded in the genome of human.


dysgerminoma of ovary

description: A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.


name: SCMH1_HUMAN Polycomb protein SCMH1 (sprot)

description: A polycomb protein SCMH1 that is encoded in the genome of human.


Waterhouse-Friderichsen syndrome

description: A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.


CLD19_HUMAN Claudin-19 (sprot)

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


name: GOGA7_HUMAN Golgin subfamily A member 7 (sprot)

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


abscess

description: An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.


name: AJAP1_HUMAN Adherens junction-associated protein 1 (sprot)

description: An adherens junction-associated protein 1 that is encoded in the genome of human.


Sinus bradycardia

description: Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.


name: RSLAB_HUMAN Ras-like protein family member 10B (sprot)

description: A Ras-like protein family member 10B that is encoded in the genome of human.


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


name: ETFA_HUMAN Electron transfer flavoprotein subunit alpha, mitochondrial (sprot)

description: An electron transfer flavoprotein subunit alpha, mitochondrial that is encoded in the genome of human.


name: NBPF4_HUMAN Neuroblastoma breakpoint family member 4 (sprot)

description: A neuroblastoma breakpoint family member 4 that is encoded in the genome of human.


Large for gestational age

description: The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.


P2RX6_HUMAN P2X purinoceptor 6 (sprot)

A P2X purinoceptor 6 that is encoded in the genome of human.


name: TLX2_HUMAN T-cell leukemia homeobox protein 2 (sprot)

description: A T-cell leukemia homeobox protein 2 that is encoded in the genome of human.


name: MFS11_HUMAN UNC93-like protein MFSD11 (sprot)

description: An UNC93-like protein MFSD11 that is encoded in the genome of human.


name: DRS7C_HUMAN Dehydrogenase/reductase SDR family member 7C (sprot)

description: A dehydrogenase/reductase SDR family member 7C that is encoded in the genome of human.


LCA5_HUMAN Lebercilin (sprot)

A lebercilin that is encoded in the genome of human.


name: S27A3_HUMAN Long-chain fatty acid transport protein 3 (sprot)

description: A long-chain fatty acid transport protein 3 that is encoded in the genome of human.


name: ITIH2_HUMAN Inter-alpha-trypsin inhibitor heavy chain H2 (sprot)

description: An inter-alpha-trypsin inhibitor heavy chain H2 that is encoded in the genome of human.


name: S38A5_HUMAN Sodium-coupled neutral amino acid transporter 5 (sprot)

description: A sodium-coupled neutral amino acid transporter 5 that is encoded in the genome of human.


angioosteohypertrophic syndrome

description: A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.


lactate

A hydroxy monocarboxylic acid anion that is the conjugate base of lactic acid, arising from deprotonation of the carboxy group.


name: ZC12C_HUMAN Probable ribonuclease ZC3H12C (sprot)

description: A probable ribonuclease ZC3H12C that is encoded in the genome of human.


name: HECAM_HUMAN Hepatic and glial cell adhesion molecule (sprot)

description: A hepatic and glial cell adhesion molecule that is encoded in the genome of human.


S26A2_HUMAN Sulfate transporter (sprot)

A sulfate transporter that is encoded in the genome of human.


name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

description: Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.


pleomorphic adenoma

description: A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).


name: HP1B3_HUMAN Heterochromatin protein 1-binding protein 3 (sprot)

description: A heterochromatin protein 1-binding protein 3 that is encoded in the genome of human.


name: congenital thrombotic thrombocytopenic purpura

description: Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


name: FBX50_HUMAN F-box only protein 50 (sprot)

description: A non-specific cytotoxic cell receptor protein 1 that is encoded in the genome of human.


SYT12_HUMAN Synaptotagmin-12 (sprot)

A synaptotagmin-12 that is encoded in the genome of human.


name: RET5_HUMAN Retinol-binding protein 5 (sprot)

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


name: TOM1_HUMAN Target of Myb1 membrane trafficking protein (sprot)

description: A target of Myb1 membrane trafficking protein that is encoded in the genome of human.


name: SPTSB_HUMAN Serine palmitoyltransferase small subunit B (sprot)

description: A serine palmitoyltransferase small subunit B that is encoded in the genome of human.


name: NUCKS_HUMAN Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 (sprot)

description: A nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 that is encoded in the genome of human.


name: ERGI3_HUMAN Endoplasmic reticulum-Golgi intermediate compartment protein 3 (sprot)

description: An endoplasmic reticulum-Golgi intermediate compartment protein 3 that is encoded in the genome of human.


name: TCPH_HUMAN T-complex protein 1 subunit eta (sprot)

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


name: ECHD2_HUMAN Enoyl-CoA hydratase domain-containing protein 2, mitochondrial (sprot)

description: An enoyl-CoA hydratase domain-containing protein 2, mitochondrial that is encoded in the genome of human.


Meconium stained amniotic fluid

description: Amniotic fluid containing the earliest stools of a mammalian infant.


name: diffuse idiopathic skeletal hyperostosis

description: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.


PCDH1_HUMAN Protocadherin-1 (sprot)

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


angiodysplasia

description: Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.


name: DSE_HUMAN Dermatan-sulfate epimerase (sprot)

description: A dermatan-sulfate epimerase that is encoded in the genome of human.


aniridia

description: Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).


dexamethasone phosphate

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


name: XAGE1_HUMAN X antigen family member 1 (sprot)

description: An X antigen family member 1 that is encoded in the genome of human.


pancreatic cystadenocarcinoma

description: A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.


acute transverse myelitis

description: Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).


tipranavir

A pyridine-2-sulfonamide substituted at C-5 by a trifluoromethyl group and at the sulfonamide nitrogen by a dihydropyrone-containing m-tolyl substituent. It is an HIV-1 protease inhibitor.


SYBU_HUMAN Syntabulin (sprot)

A syntabulin that is encoded in the genome of human.


FER3L_HUMAN Fer3-like protein (sprot)

A Fer3-like protein that is encoded in the genome of human.


UPK1A_HUMAN Uroplakin-1a (sprot)

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


diazaborine

A organonitrogen heterocyclic compound consisting of 2,3,1-benzodiazaborinine substituted at positions 1 and 2 by hydroxy and 4-toluenesufonyl groups respectively.


name: AK1C4_HUMAN Aldo-keto reductase family 1 member C4 (sprot)

description: An aldo-keto reductase family 1 member C4 that is encoded in the genome of human.


Oligomenorrhea

description: Infrequent menses (less than 6 per year or more than 35 days between cycles).


name: PGAP1_HUMAN GPI inositol-deacylase (sprot)

description: A GPI inositol-deacylase that is encoded in the genome of human.


name: PGAP6_HUMAN Post-GPI attachment to proteins factor 6 (sprot)

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


vulvovaginal candidiasis

description: Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.


ARTN_HUMAN Artemin (sprot)

An artemin that is encoded in the genome of human.


postprandial hypotension

description: Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines.


Proximal amyotrophy

description: Amyotrophy (muscular atrophy) affecting the proximal musculature.


name: SAPC2_HUMAN Suppressor APC domain-containing protein 2 (sprot)

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


name: TTI1_HUMAN TELO2-interacting protein 1 homolog (sprot)

description: A TELO2-interacting protein 1 homolog that is encoded in the genome of human.


name: GMFG_HUMAN Glia maturation factor gamma (sprot)

description: A glia maturation factor gamma that is encoded in the genome of human.


ARJUNOLIC ACID

A  pentacyclic triterpenoid that is  olean-12-en-28-oic acid substituted by hydroxy groups at positions 2, 3 and 23 (the 2alpha,3beta stereoisomer). Isolated from Symplocos lancifolia and Juglans sinensis, it exhibits antioxidant and antimicrobial activities.


name: B2L10_HUMAN Bcl-2-like protein 10 (sprot)

description: A Bcl-2-like protein 10 that is encoded in the genome of human.


MOGROL

A tetracyclic triterpenoid that is cucurbitadienol in which the side-chain double bond (position 24-25) has undergone formal oxidation to introduce hydroxy groups at positions 24 and 25 (the 24R stereoisomer). It is a biometabolite of mogrosides found in Siraitia grosvenorii.


name: HFE_HUMAN Hereditary hemochromatosis protein (sprot)

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


urethra adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the urethra


CYTD_HUMAN Cystatin-D (sprot)

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


Facial telangiectasia

description: Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.


phosphatidylcholine (16:2/16:0)

A phosphatidylcholine 32:2 in which the fatty acyl groups at positions 1 and 2 are specified as C16:2 and C16:0 respectively.


name: LIMA1_HUMAN LIM domain and actin-binding protein 1 (sprot)

description: A LIM domain and actin-binding protein 1 that is encoded in the genome of human.


name: CIZ1_HUMAN Cip1-interacting zinc finger protein (sprot)

description: A Cip1-interacting zinc finger protein that is encoded in the genome of human.


name: CHSTA_HUMAN Carbohydrate sulfotransferase 10 (sprot)

description: A carbohydrate sulfotransferase 10 that is encoded in the genome of human.


name: DCR1B_HUMAN 5' exonuclease Apollo (sprot)

description: A 5' exonuclease Apollo that is encoded in the genome of human.


name: GNPI2_HUMAN Glucosamine-6-phosphate isomerase 2 (sprot)

description: A glucosamine-6-phosphate isomerase 2 that is encoded in the genome of human.


name: EPHA1_HUMAN Ephrin type-A receptor 1 (sprot)

description: An ephrin type-A receptor 1 that is encoded in the genome of human.


EMIL3_HUMAN EMILIN-3 (sprot)

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


name: NPL4_HUMAN Nuclear protein localization protein 4 homolog (sprot)

description: A nuclear protein localization protein 4 that is encoded in the genome of human.


OTOF_HUMAN Otoferlin (sprot)

An otoferlin that is encoded in the genome of human.


name: PHAX_HUMAN Phosphorylated adapter RNA export protein (sprot)

description: A phosphorylated adapter RNA export protein that is encoded in the genome of human.


name: LRFN1_HUMAN Leucine-rich repeat and fibronectin type III domain-containing protein 1 (sprot)

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


ELFN1_HUMAN Protein ELFN1 (sprot)

A protein phosphatase 1 regulatory subunit 28 that is encoded in the genome of human.


name: MFHA1_HUMAN Malignant fibrous histiocytoma-amplified sequence 1 (sprot)

description: A malignant fibrous histiocytoma-amplified sequence 1 that is encoded in the genome of human.


name: PHAR1_HUMAN Phosphatase and actin regulator 1 (sprot)

description: A phosphatase and actin regulator 1 that is encoded in the genome of human.


name: HXD9_HUMAN Homeobox protein Hox-D9 (sprot)

description: A homeobox protein Hox-D9 that is encoded in the genome of human.


name: RAE1E_HUMAN Retinoic acid early transcript 1E (sprot)

description: A retinoic acid early transcript 1E that is encoded in the genome of human.


name: RB27B_HUMAN Ras-related protein Rab-27B (sprot)

description: A Ras-related protein Rab-27B that is encoded in the genome of human.


monogenic diabetes

description: Diabetes mellitus that is caused by mutations in a single gene.


A C21-steroid hormone that is 5alpha-pregnane substituted by oxo groups at positions 3 and 20. It is a metabolite of progestrone.


skin pigmented basal cell carcinoma

description: A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.


squamous cell neoplasm

description: A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.


episodic ataxia type 2

description: Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.


papillary adenocarcinoma

description: A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.


Venezuelan equine encephalitis

description: A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.


drug-induced dyskinesia

description: Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)


name: PPIG_HUMAN Peptidyl-prolyl cis-trans isomerase G (sprot)

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


name: S29A3_HUMAN Equilibrative nucleoside transporter 3 (sprot)

description: An equilibrative nucleoside transporter 3 that is encoded in the genome of human.


name: RASFA_HUMAN Ras association domain-containing protein 10 (sprot)

description: A Ras association domain-containing protein 10 that is encoded in the genome of human.


BRPF1_HUMAN Peregrin (sprot)

A peregrin that is encoded in the genome of human.


anisocoria

description: Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.


sodium dithionite

An inorganic sodium salt that is the disodium salt of dithionous acid.


name: GAMT_HUMAN Guanidinoacetate N-methyltransferase (sprot)

description: A guanidinoacetate N-methyltransferase that is encoded in the genome of human.


BENZOYL FORMIC ACID

A 2-oxo monocarboxylic acid that is glyoxylic acid in which the aldehyde hydrogen is substituted by a phenyl group.


name: KLH24_HUMAN Kelch-like protein 24 (sprot)

description: A kelch-like protein 24 that is encoded in the genome of human.


tolazamide

An N-sulfonylurea that is 1-tosylurea in which a hydrogen attached to the nitrogen at position 3 is replaced by an azepan-1-yl group. A hypoglycemic agent, it is used for the treatment of type 2 diabetes mellitus.


epiandrosterone sulfate

A steroid sulfate that is the 3-sulfate of epiandrosterone.


name: PEX16_HUMAN Peroxisomal membrane protein PEX16 (sprot)

description: A peroxisomal membrane protein PEX16 that is encoded in the genome of human.


salicylates

Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.


name: SCN2B_HUMAN Sodium channel subunit beta-2 (sprot)

description: A sodium channel subunit beta-2 that is encoded in the genome of human.


TARP syndrome

description: A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.


cobamamide

A member of the class of cobalamins that is vitamin B12 in which the cyano group is replaced by a 5'-deoxyadenos-5'-yl moiety. It is one of the two metabolically active form of vitamin B12.


Hypersexuality

description: Pathological persistent sexual disinhibiting behavior, directed towards oneself or others.


name: SMAP1_HUMAN Stromal membrane-associated protein 1 (sprot)

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


Griscelli syndrome type 2

description: Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.


classical swine fever

description: An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality.


name: ASXL3_HUMAN Putative Polycomb group protein ASXL3 (sprot)

description: A putative Polycomb group protein ASXL3 that is encoded in the genome of human.


name: LSM11_HUMAN U7 snRNA-associated Sm-like protein LSm11 (sprot)

description: A U7 snRNA-associated Sm-like protein LSm11 that is encoded in the genome of human.


SPON2_HUMAN Spondin-2 (sprot)

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


name: PLGT3_HUMAN Protein O-glucosyltransferase 3 (sprot)

description: A protein O-glucosyltransferase 3 that is encoded in the genome of human.


Apnea

description: Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.


thymic neuroendocrine carcinoma

description: Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.


name: PNRC1_HUMAN Proline-rich nuclear receptor coactivator 1 (sprot)

description: A proline-rich nuclear receptor coactivator 1 that is encoded in the genome of human.


name: DCA15_HUMAN DDB1- and CUL4-associated factor 15 (sprot)

description: A DDB1- and CUL4-associated factor 15 that is encoded in the genome of human.


name: DESI2_HUMAN Deubiquitinase DESI2 (sprot)

description: A deubiquitinase DESI2 that is encoded in the genome of human.


pharynx cancer

description: A primary or metastatic malignant neoplasm that affects the pharynx.


childhood kidney cell carcinoma

description: A renal cell carcinoma that occurs during childhood.


PALD_HUMAN Paladin (sprot)

A paladin that is encoded in the genome of human.


inappropriate ADH syndrome

description: A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.


EED_HUMAN Polycomb protein EED (sprot)

A polycomb protein EED that is encoded in the genome of human.


ischemic neuropathy

description: Neuropathy that is caused by inadequate blood supply.


name: FSD2_HUMAN Fibronectin type III and SPRY domain-containing protein 2 (sprot)

description: A fibronectin type III and SPRY domain-containing protein 2 that is encoded in the genome of human.


arenavirus hemorrhagic fever

description: A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.


name: PANK2_HUMAN Pantothenate kinase 2, mitochondrial (sprot)

description: A pantothenate kinase 2, mitochondrial that is encoded in the genome of human.


name: ILDR1_HUMAN Immunoglobulin-like domain-containing receptor 1 (sprot)

description: An immunoglobulin-like domain-containing receptor 1 that is encoded in the genome of human.


sulfabenzamide

A sulfonamide containing a benzamido substituent on nitrogen. An antibacterial/antimicrobial, it is often used in conjunction with sulfathiazole and sulfacetamide as a topical, intravaginal antibacterial preparation.


name: PEX1_HUMAN Peroxisomal ATPase PEX1 (sprot)

description: A peroxisomal ATPase PEX1 that is encoded in the genome of human.


cinoxacin

A member of the class of  cinnolines  that is 6,7-methylenedioxycinnolin-4(1H)-one bearing an ethyl group at position 1 and a carboxylic acid group at position 3. An analogue of oxolinic acid, it has similar antibacterial actions. It was formerly used for the treatment of urinary tract infections.


name: GBRB1_HUMAN Gamma-aminobutyric acid receptor subunit beta-1 (sprot)

description: A gamma-aminobutyric acid receptor subunit beta-1 that is encoded in the genome of human.


name: K1C23_HUMAN Keratin, type I cytoskeletal 23 (sprot)

description: A keratin, type I cytoskeletal 23 that is encoded in the genome of human.


juvenile myasthenia gravis

description: Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.


ZHANKUIC ACID A

A steroid acid that is ergosta-8,24(28)-dien-26-oic acid substituted by a methyl group at position 4 and oxo groups at positions 3, 7 and 11 (the 4alpha,5alpha stereoisomer). Isolated from  Antrodia cinnamomea and Antrodia camphorata, it exhibits cytotoxic and anti-inflammatory activity.


VIP_HUMAN VIP peptides (sprot)

A VIP peptides that is encoded in the genome of human.


complex regional pain syndrome type 1

description: Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.


name: SWET1_HUMAN Sugar transporter SWEET1 (sprot)

description: A sugar transporter SWEET1 that is encoded in the genome of human.


name: LGI2_HUMAN Leucine-rich repeat LGI family member 2 (sprot)

description: A leucine-rich repeat LGI family member 2 that is encoded in the genome of human.


STX8_HUMAN Syntaxin-8 (sprot)

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


name: LHX5_HUMAN LIM/homeobox protein Lhx5 (sprot)

description: A LIM/homeobox protein Lhx5 that is encoded in the genome of human.


differentiating neuroblastoma

description: A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.


name: K2C80_HUMAN Keratin, type II cytoskeletal 80 (sprot)

description: A keratin, type II cytoskeletal 80 that is encoded in the genome of human.


name: PURA_HUMAN Transcriptional activator protein Pur-alpha (sprot)

description: A transcriptional activator protein Pur-alpha that is encoded in the genome of human.


name: NLE1_HUMAN Notchless protein homolog 1 (sprot)

description: A notchless protein homolog 1 that is encoded in the genome of human.


cerebral sinovenous thrombosis

description: A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.


name: GP173_HUMAN Probable G-protein coupled receptor 173 (sprot)

description: A probable G-protein coupled receptor 173 that is encoded in the genome of human.


thoracic aortic aneurysm

description: An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


paronychia

description: An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.


idiopathic central precocious puberty

description: Central precocious puberty for which no underlying cause can be identified.


extragonadal germ cell tumor

description: A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).


progressive osseous heteroplasia

description: A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.


name: ETAA1_HUMAN Ewing's tumor-associated antigen 1 (sprot)

description: An Ewing's tumor-associated antigen 1 that is encoded in the genome of human.


name: KI2LA_HUMAN Killer cell immunoglobulin-like receptor 2DL5A (sprot)

description: A killer cell immunoglobulin-like receptor 2DL5A that is encoded in the genome of human.


osteoma

description: A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.


TSN2_HUMAN Tetraspanin-2 (sprot)

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


name: INHBB_HUMAN Inhibin beta B chain (sprot)

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


Wiskott-Aldrich syndrome

description: Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.


JPH1_HUMAN Junctophilin-1 (sprot)

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


VECURONIUM BROMIDE

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


name: HES2_HUMAN Transcription factor HES-2 (sprot)

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


name: CARL2_HUMAN Capping protein, Arp2/3 and myosin-I linker protein 2 (sprot)

description: A capping protein, Arp2/3 and myosin-I linker protein 2 that is encoded in the genome of human.


hepatic infarction

description: Prolonged ischemia to the liver resulting in necrosis.


name: TRI55_HUMAN Tripartite motif-containing protein 55 (sprot)

description: A tripartite motif-containing protein 55 that is encoded in the genome of human.


name: TAF13_HUMAN Transcription initiation factor TFIID subunit 13 (sprot)

description: A transcription initiation factor TFIID subunit 13 that is encoded in the genome of human.


name: gastric mucosa-associated lymphoid tissue lymphoma

description: A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.


cefroxadine

A first-generation cephalosporin antibiotic having methoxy and [(2R)-2-amino-2-(cyclohexa-1,4-dien-1-yl)acetyl]amino side groups located at positions 3 and 7 respectively.


HKDC1_HUMAN Hexokinase HKDC1 (sprot)

A hexokinase HKDC1 that is encoded in the genome of human.


ureter carcinoma

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


pars planitis

description: An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.


name: PX11B_HUMAN Peroxisomal membrane protein 11B (sprot)

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


NATD1_HUMAN Protein NATD1 (sprot)

A protein NATD1 that is encoded in the genome of human.


calcinosis

description: Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.


cerebral lymphoma

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


acetoacetic acid

A 3-oxo monocarboxylic acid anion that is the conjugate base of acetoacetic acid, arising from deprotonation of the carboxy group.


lymphoepithelioma-like thymic carcinoma

description: A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.


name: PDIA2_HUMAN Protein disulfide-isomerase A2 (sprot)

description: A protein disulfide-isomerase A2 that is encoded in the genome of human.


patellar tendinitis

description: A tendinitis that involves the patella.


name: T106B_HUMAN Transmembrane protein 106B (sprot)

description: A transmembrane protein 106B that is encoded in the genome of human.


Endogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.


name: PYDC5_HUMAN Pyrin domain-containing protein 5 (sprot)

description: A protein that is a translation product of the PYDC5 gene in human.


name: CAR18_HUMAN Caspase recruitment domain-containing protein 18 (sprot)

description: A caspase recruitment domain-containing protein 18 that is encoded in the genome of human.


myopia 6

description: Any myopia in which the cause of the disease is a mutation in the SCO2 gene.


name: GBRA6_HUMAN Gamma-aminobutyric acid receptor subunit alpha-6 (sprot)

description: A gamma-aminobutyric acid receptor subunit alpha-6 that is encoded in the genome of human.


dinitrophenol

Members of the class of  nitrophenol carrying two nitro substituents.


N-acetyl-L-alanine

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


IFNA6_HUMAN Interferon alpha-6 (sprot)

An interferon alpha-6 that is encoded in the genome of human.


name: DRA_HUMAN HLA class II histocompatibility antigen, DR alpha chain (sprot)

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


phosphatidylcholine (15:0/18:2)

A phosphatidylcholine 33:2 in which the fatty acyl groups at positions 1 and 2 are specified as C15:0 and C18:2 respectively.


name: DCSTP_HUMAN Dendritic cell-specific transmembrane protein (sprot)

description: A dendritic cell-specific transmembrane protein that is encoded in the genome of human.


name: CRUM2_HUMAN Protein crumbs homolog 2 (sprot)

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


name: CPSF2_HUMAN Cleavage and polyadenylation specificity factor subunit 2 (sprot)

description: A cleavage and polyadenylation specificity factor subunit 2 that is encoded in the genome of human.


name: GLHA_HUMAN Glycoprotein hormones alpha chain (sprot)

description: A glycoprotein hormones alpha chain that is encoded in the genome of human.


name: TA2R1_HUMAN Taste receptor type 2 member 1 (sprot)

description: A taste receptor type 2 member 1/119 that is encoded in the genome of human.


name: FAAH1_HUMAN Fatty-acid amide hydrolase 1 (sprot)

description: A fatty-acid amide hydrolase 1 that is encoded in the genome of human.


Astrocytosis

description: Proliferation of astrocytes in the area of a lesion of the central nervous system.


well-differentiated liposarcoma

description: A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.


phosphatidylethanolamine (18:1/20:1)

A phosphatidylethanolamine 38:2 in which the acyl group at C-1 contains 18 carbons and 1 double bond while that at C-2 contains 20 carbons and 1 double bond.


Pulmonary arterial medial hypertrophy

description: Increase in mass of the tunica media of the arteries in the pulmonary circulation.


name: LSM4_HUMAN U6 snRNA-associated Sm-like protein LSm4 (sprot)

description: A U6 snRNA-associated Sm-like protein LSm4 that is encoded in the genome of human.


young-onset Parkinson disease

description: A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.


corticobasal degeneration disorder

description: A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.


name: RF1M_HUMAN Peptide chain release factor 1, mitochondrial (sprot)

description: A peptide chain release factor 1, mitochondrial that is encoded in the genome of human.


name: autosomal recessive congenital ichthyosis 4B

description: Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.


Majeed syndrome

description: Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.


NITROMETHANE

A primary nitroalkane that is methane in which one of the hydrogens is replace by a nitro group. A polar solvent (b.p. 101 degreeC), it is an important starting material in organic synthesis. It is also used as a fuel for rockets and radio-controlled models.


name: S39A3_HUMAN Zinc transporter ZIP3 (sprot)

description: A zinc transporter ZIP3 that is encoded in the genome of human.


5MP2_HUMAN eIF5-mimic protein 2 (sprot)

An eIF5-mimic protein 2 that is encoded in the genome of human.


5MP1_HUMAN eIF5-mimic protein 1 (sprot)

An eIF5-mimic protein 1 that is encoded in the genome of human.


colonic atresia

description: Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.


name: REEP1_HUMAN Receptor expression-enhancing protein 1 (sprot)

description: A receptor expression-enhancing protein 1 that is encoded in the genome of human.


early-onset anterior polar cataract

description: A polar cataract that affects the anterior pole of the lens.


Mild hearing impairment

description: The presence of a mild form of hearing impairment.


name: MNS1_HUMAN Meiosis-specific nuclear structural protein 1 (sprot)

description: A meiosis-specific nuclear structural protein 1 that is encoded in the genome of human.


name: CDCA7_HUMAN Cell division cycle-associated protein 7 (sprot)

description: A cell division cycle-associated protein 7 that is encoded in the genome of human.


LFG3_HUMAN Protein lifeguard 3 (sprot)

A protein lifeguard 3 that is encoded in the genome of human.


ocular adnexal lymphoma

description: A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.


name: WDFY3_HUMAN WD repeat and FYVE domain-containing protein 3 (sprot)

description: A WD repeat and FYVE domain-containing protein 3 that is encoded in the genome of human.


name: SC6A7_HUMAN Sodium-dependent proline transporter (sprot)

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


name: SSBP2_HUMAN Single-stranded DNA-binding protein 2 (sprot)

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


name: NDUF2_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 that is encoded in the genome of human.


SURAMIN HEXASODIUM

An organic sodium salt that is the hexasodium salt of suramin. It is an FDA approved drug for African sleeping sickness and river blindness.


diabetic autonomic neuropathy

description: Autonomic neuropathy that is caused by diabetes mellitus.


name: GEMI5_HUMAN Gem-associated protein 5 (sprot)

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


precocious puberty

description: Unusually early sexual maturity.


name: ZN521_HUMAN Zinc finger protein 521 (sprot)

description: A zinc finger protein 521 that is encoded in the genome of human.


Atrichia

description: The most dramatic and severe form of hair loss characterized by an absence of hair follicles.


methemoglobin reductase deficiency

description: Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.


UDP-glucuronic acid

A UDP-sugar having alpha-D-glucuronic acid as the sugar component.


oridonin

An organic heteropentacyclic compound and ent-kaurane diterpenoid with formula C20H28O6 isolated from the leaves of the medicinal herb Rabdosia rubescens.


name: ATG4A_HUMAN Cysteine protease ATG4A (sprot)

description: A cysteine protease ATG4A that is encoded in the genome of human.


name: PUR6_HUMAN Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase (sprot)

description: A bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase that is encoded in the genome of human.


2-arylpropionic acid

A class of carboxylic acids of general formula RCHCH3C(=O)OH where R represents an aryl group.


NRTN_HUMAN Neurturin (sprot)

A neurturin that is encoded in the genome of human.


name: GFRA2_HUMAN GDNF family receptor alpha-2 (sprot)

description: A GDNF family receptor alpha-2 that is encoded in the genome of human.


OPALI_HUMAN Opalin (sprot)

An opalin that is encoded in the genome of human.


congenital rubella syndrome

description: An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.


Nager acrofacial dysostosis

description: Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.


phosphatidylethanolamine (18:0/18:3)

1,2-diacyl-sn-glycero-3-phosphoethanolamine in which the acyl group at C-1 contains 18 carbons and no double bonds while that at C-2 contains 18 carbons and 3 double bonds.


CERK1_HUMAN Ceramide kinase (sprot)

A ceramide kinase that is encoded in the genome of human.


name: circadian rhythm sleep disorder, delayed sleep phase type

description: A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.


name: UBX2A_HUMAN UBX domain-containing protein 2A (sprot)

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


SEPANTRONIUM BROMIDE

An organic bromide salt consisting of sepantronium cations and bromide anions. It has been found to selectively inhibit survivin (BIRC5) gene promoter activity and to down-regulate survivin in vitro, so leading to induction of apoptosis.


name: SHC3_HUMAN SHC-transforming protein 3 (sprot)

description: An SHC-transforming protein 3 that is encoded in the genome of human.


name: NUD13_HUMAN NAD(P)H pyrophosphatase NUDT13, mitochondrial (sprot)

description: An NAD(P)H pyrophosphatase NUDT13, mitochondrial that is encoded in the genome of human.


High myopia

description: A severe form of myopia with greater than -6.00 diopters.


name: RB39A_HUMAN Ras-related protein Rab-39A (sprot)

description: A Ras-related protein Rab-39A that is encoded in the genome of human.


name: PI51A_HUMAN Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha (sprot)

description: A phosphatidylinositol 4-phosphate 5-kinase type-1 alpha that is encoded in the genome of human.


Congenital hypoparathyroidism

description: Deficiency of parathyroid hormone with congenital onset.


name: PEPL1_HUMAN Probable aminopeptidase NPEPL1 (sprot)

description: A probable aminopeptidase NPEPL1 that is encoded in the genome of human.


name: MA2A2_HUMAN Alpha-mannosidase 2x (sprot)

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


CCNK_HUMAN Cyclin-K (sprot)

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


SYT14_HUMAN Synaptotagmin-14 (sprot)

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


3-hydroxypicolinic acid

A monohydroxypyridine that is picolinic acid in which the hydrogen at position 3 is replaced by a hydroxy group. It is used as a matrix in matrix-assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of oligonucleotides.


dasabuvir

A member of the class of pyrimidone, which is (as the monohydrate of its sodium salt) in combination with ombitasvir, paritaprevir and ritonavir (under the trade name Viekira Pak) for treatment of chronic hepatitis C virus genotype 1 infection as well as cirrhosis of the liver.


tubulinopathy

description: A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.


Satoyoshi syndrome

description: Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.


name: GTR7_HUMAN Solute carrier family 2, facilitated glucose transporter member 7 (sprot)

description: A solute carrier family 2, facilitated glucose transporter member 7 that is encoded in the genome of human.


Gastric xanthoma

description: Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.


doxorubicinol

A member of the class of tetracenequinones that is the major metabolite of the anthracycline doxorubicin, a chemotherapeutic agent effective against a broad range of malignant neoplasms. It is thought to exhibit cardiotoxic properties.


name: PPLA_HUMAN Cardiac phospholamban (sprot)

description: A cardiac phospholamban that is encoded in the genome of human.


name: IFM10_HUMAN Interferon-induced transmembrane protein 10 (sprot)

description: An interferon-induced transmembrane protein 10 that is encoded in the genome of human.


name: RETR2_HUMAN Reticulophagy regulator 2 (sprot)

description: A reticulophagy regulator 2 that is encoded in the genome of human.


RSPO4_HUMAN R-spondin-4 (sprot)

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


name: UBE2F_HUMAN NEDD8-conjugating enzyme UBE2F (sprot)

description: A NEDD8-conjugating enzyme UBE2F that is encoded in the genome of human.


magnesium acetate

The magnesium salt of acetic acid.


cancerophobia

description: An overwhelming, irrational, and persistent fear of being diagnosed with cancer.


circadian rhythm sleep disorder

description: A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)


TBB1_HUMAN Tubulin beta-1 chain (sprot)

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


name: Cushing disease due to pituitary adenoma

description: Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.


name: HME2_HUMAN Homeobox protein engrailed-2 (sprot)

description: A homeobox protein engrailed-2 that is encoded in the genome of human.


name: KDM4E_HUMAN Lysine-specific demethylase 4E (sprot)

description: A lysine-specific demethylase 4E that is encoded in the genome of human.


name: GST2_HUMAN Glutathione S-transferase theta-2 (sprot)

description: A glutathione S-transferase theta-2 that is encoded in the genome of human.


retinal telangiectasia

description: Dilatation of small blood vessels of the retina.


name: GAB3_HUMAN GRB2-associated-binding protein 3 (sprot)

description: A GRB2-associated-binding protein 3 that is encoded in the genome of human.


MBRL_HUMAN Membralin (sprot)

A membralin that is encoded in the genome of human.


name: F111A_HUMAN Serine protease FAM111A (sprot)

description: A serine protease FAM111A that is encoded in the genome of human.


amyopathic dermatomyositis

description: A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.


name: MPP7_HUMAN MAGUK p55 subfamily member 7 (sprot)

description: A MAGUK p55 subfamily member 7 that is encoded in the genome of human.


hilar cholangiocarcinoma

description: A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.


KEPONE

An  organochlorine compound with insecticidal activity.


anthracosis

description: A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.


9-oxononanoic acid

A medium-chain oxo-fatty acid that is the 9-oxo derivative of nonanoic acid.


name: K2C3_HUMAN Keratin, type II cytoskeletal 3 (sprot)

description: A keratin, type II cytoskeletal 3 that is encoded in the genome of human.


name: P4HA2_HUMAN Prolyl 4-hydroxylase subunit alpha-2 (sprot)

description: A prolyl 4-hydroxylase subunit alpha-2 that is encoded in the genome of human.


name: homocystinuria due to methylene tetrahydrofolate reductase deficiency

description: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.


DIHYDROSANGUINARINE

A benzophenanthridine alkaloid obtained by selective hydrogenation of the 13,14-position of sanguinarine.


name: AT131_HUMAN Endoplasmic reticulum transmembrane helix translocase (sprot)

description: An endoplasmic reticulum transmembrane helix translocase that is encoded in the genome of human.


name: MSMP_HUMAN Prostate-associated microseminoprotein (sprot)

description: A prostate-associated microseminoprotein that is encoded in the genome of human.


capillary hemangioma

description: A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.


p-ANISIC ACID

A methoxybenzoic acid substituted with a methoxy group at position C-4.


name: IGKC_HUMAN Immunoglobulin kappa constant (sprot)

description: An immunoglobulin kappa constant that is encoded in the genome of human.


non-atopic asthma

description: A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.


An organoiodine compound consisting of uracil having an iodo substituent at the 5-position.


AMOXICILLIN SODIUM

An  organic sodium salt that is the monosodium salt of amoxicillin.


MUCEN_HUMAN Endomucin (sprot)

An endomucin that is encoded in the genome of human.


name: NADE_HUMAN Glutamine-dependent NAD(+) synthetase (sprot)

description: A glutamine-dependent NAD(+) synthetase that is encoded in the genome of human.


name: PRDM6_HUMAN Putative histone-lysine N-methyltransferase PRDM6 (sprot)

description: A putative histone-lysine N-methyltransferase PRDM6 that is encoded in the genome of human.


Fasting hyperinsulinemia

description: An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.


galactose epimerase deficiency

description: Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.


cryofibrinogenemia

description: Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.


name: POGZ_HUMAN Pogo transposable element with ZNF domain (sprot)

description: A pogo transposable element with ZNF domain that is encoded in the genome of human.


name: NDUA6_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 that is encoded in the genome of human.


REXO4_HUMAN RNA exonuclease 4 (sprot)

An RNA exonuclease 4 that is encoded in the genome of human.


name: ANR26_HUMAN Ankyrin repeat domain-containing protein 26 (sprot)

description: An ankyrin repeat domain-containing protein 26 that is encoded in the genome of human.


SNX2_HUMAN Sorting nexin-2 (sprot)

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


name: PAPS1_HUMAN Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (sprot)

description: A bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 that is encoded in the genome of human.


CYTS_HUMAN Cystatin-S (sprot)

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


Microretrognathia

description: A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


name: neonatal intrahepatic cholestasis due to citrin deficiency

description: Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.


cerebral cavernous malformation

description: A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.


TBD_HUMAN Tubulin delta chain (sprot)

A tubulin delta chain that is encoded in the genome of human.


INADL_HUMAN InaD-like protein (sprot)

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


name: UNC5D_HUMAN Netrin receptor UNC5D (sprot)

description: A netrin receptor UNC5D that is encoded in the genome of human.


name: RHOJ_HUMAN Rho-related GTP-binding protein RhoJ (sprot)

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


helminthiasis

description: A parasitic infection characterized by the infestation with worms, mainly in the intestine.


hereditary episodic ataxia

description: Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.


YIPF3_HUMAN Protein YIPF3 (sprot)

A protein YIPF3 that is encoded in the genome of human.


pyrantel

A carboxamidine that is 1,4,5,6-tetrahydropyrimidine that is substituted at position 1 by a methyl group and at position 2 by an (E)-2-(2-thienyl)vinyl group. It is used, particularly as the embonate [4,4'-methylenebis(3-hydroxy-2-naphthoate)] salt, as an anthelmintic that is effective against intestinal nematodes including threadworms, roundworms and hookworms, and is included in the WHO 'Model List of Essential Medicines'.


trichuriasis

description: An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.


name: MACD1_HUMAN ADP-ribose glycohydrolase MACROD1 (sprot)

description: An ADP-ribose glycohydrolase MACROD1 that is encoded in the genome of human.


CASQ1_HUMAN Calsequestrin-1 (sprot)

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


name: CK2N1_HUMAN Calcium/calmodulin-dependent protein kinase II inhibitor 1 (sprot)

description: A calcium/calmodulin-dependent protein kinase II inhibitor 1 that is encoded in the genome of human.


name: IP6K1_HUMAN Inositol hexakisphosphate kinase 1 (sprot)

description: An inositol hexakisphosphate kinase 1 that is encoded in the genome of human.


name: PAMR1_HUMAN Inactive serine protease PAMR1 (sprot)

description: An inactive serine protease RAMP that is encoded in the genome of human.


name: PR40A_HUMAN Pre-mRNA-processing factor 40 homolog A (sprot)

description: A pre-mRNA-processing factor 40 homolog A that is encoded in the genome of human.


name: TMEM9_HUMAN Proton-transporting V-type ATPase complex assembly regulator TMEM9 (sprot)

description: A proton-transporting V-type ATPase complex assembly regulator TMEM9 that is encoded in the genome of human.


name: NUDT3_HUMAN Diphosphoinositol polyphosphate phosphohydrolase 1 (sprot)

description: A diphosphoinositol polyphosphate phosphohydrolase 1 that is encoded in the genome of human.


SET_HUMAN Protein SET (sprot)

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


name: PHIP_HUMAN PH-interacting protein (sprot)

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


name: HS2ST_HUMAN Heparan sulfate 2-O-sulfotransferase 1 (sprot)

description: A heparan sulfate 2-O-sulfotransferase 1 that is encoded in the genome of human.


PCDH7_HUMAN Protocadherin-7 (sprot)

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


name: GTPB2_HUMAN GTP-binding protein 2 (sprot)

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


FOSCARNET SODIUM

The trisodium salt of phosphonoformic acid. It is used as an antiviral agent in the treatment of cytomegalovirus retinitis (CMV retinitis, an inflamation of the retina that can lead to blindness) and as an alternative to ganciclovir for AIDS patients who require concurrent antiretroviral therapy but are unable to tolerate ganciclovir due to haematological toxicity.


Eales disease

description: Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.


A secondary amino compound that is 4-(2-aminoethyl)-2,5-dimethoxybenzonitrile in which one of the hydrogens of the amino group has been replaced by a 2-hydroxybenzyl group. A 5-hydroxytryptamine 2A receptor agonist.