name: YBEY_HUMAN Endoribonuclease YbeY (sprot)

description: An rRNA maturation factor homolog that is encoded in the genome of human.


arcus senilis

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

description: A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.


name: catecholaminergic polymorphic ventricular tachycardia 1

description: Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.


name: CSAD_HUMAN Cysteine sulfinic acid decarboxylase (sprot)

description: A cysteine sulfinic acid decarboxylase that is encoded in the genome of human.


myxoma

description: A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.


2-hydroxylinoleic acid

A 2-hydroxy fatty acid derived from linoleic acid.


Gardner syndrome

description: Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.


kleptomania

description: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.


CAPR2_HUMAN Caprin-2 (sprot)

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


malignant mesenchymoma

description: A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


name: familial juvenile hypertrophy of the breast

description: Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.


postmenopausal atrophic vaginitis

description: Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.


NIF3L_HUMAN NIF3-like protein 1 (sprot)

A NIF3-like protein 1 that is encoded in the genome of human.


ACTH-producing pituitary gland neoplasm

description: An adenoma or carcinoma of the pituitary gland that produces corticotropin.


Trichodiscoma

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

description: A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


description: A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.


Alzheimer disease 16

description: An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.


acute motor axonal neuropathy

description: Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).


acute cystitis

description: An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.


familial glucocorticoid deficiency

description: Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.


prostate cancer, hereditary, 1

description: Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.


GPN3_HUMAN GPN-loop GTPase 3 (sprot)

A GPN-loop GTPase 3 that is encoded in the genome of human.


ERASTIN

A member of the class of quinazolines that is quinazolin-4(3H)-one in which the hydrogens at positions 2 and 3 are replaced by 1-{4-[(4-chlorophenoxy)acetyl]piperazin-1-yl}ethyl and 2-ethoxyphenyl groups, respectively. It is an inhibitor of voltage-dependent anion-selective channels (VDAC2 and VDAC3) and a potent ferroptosis inducer.


Phenotypic abnormality

description: A phenotypic abnormality.


ELAV4_HUMAN ELAV-like protein 4 (sprot)

An ELAV-like protein 4 that is encoded in the genome of human.


name: SNP29_HUMAN Synaptosomal-associated protein 29 (sprot)

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


name: AL1L2_HUMAN Mitochondrial 10-formyltetrahydrofolate dehydrogenase (sprot)

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase that is encoded in the genome of human.


name: GAS2_HUMAN Growth arrest-specific protein 2 (sprot)

description: A growth arrest-specific protein 2 that is encoded in the genome of human.


name: MAST4_HUMAN Microtubule-associated serine/threonine-protein kinase 4 (sprot)

description: A microtubule-associated serine/threonine-protein kinase 4 that is encoded in the genome of human.


nasal cavity neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


acute graft versus host disease

description: A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.


name: LRC34_HUMAN Leucine-rich repeat-containing protein 34 (sprot)

description: A leucine-rich repeat-containing protein 34 that is encoded in the genome of human.


name: D19L2_HUMAN Probable C-mannosyltransferase DPY19L2 (sprot)

description: A protein dpy-19 2 that is encoded in the genome of human.


osteogenesis imperfecta type 7

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.


Apert syndrome

description: Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.


name: VWCE_HUMAN von Willebrand factor C and EGF domain-containing protein (sprot)

description: A von Willebrand factor C and EGF domain-containing protein that is encoded in the genome of human.


MCIN_HUMAN Multicilin (sprot)

A multicilin that is encoded in the genome of human.


panic disorder without agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.


name: SPT13_HUMAN Spermatogenesis-associated protein 13 (sprot)

description: A spermatogenesis-associated protein 13 that is encoded in the genome of human.


neutral lipid storage disease

description: Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.


kahweol

A diterpenoid with formula C20H26O3, isolated from the beans of Coffea arabica. It exhibits antioxidant, anti-inflammatory, anti-angiogenesis and anti-proliferative properties.


name: RN182_HUMAN E3 ubiquitin-protein ligase RNF182 (sprot)

description: An E3 ubiquitin-protein ligase RNF182 that is encoded in the genome of human.


chicken hepatoma

description: Hepatoma that occurs in a chicken.


DOTARIZINE

An N-alkylpiperazine in which the two amino hydrogens of piperazine have been replaced by diphenylmethyl and 3-(2-phenyl-1,3-dioxolan-2-yl)propyl groups. A calcium channel blocker and serotonin (5-HT2) receptor antagonist used in the treatment of migraine.


FA9_HUMAN Coagulation factor IX (sprot)

A coagulation factor IX that is encoded in the genome of human.


shrinking lung syndrome

description: A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.


RYR3_HUMAN Ryanodine receptor 3 (sprot)

A ryanodine receptor 3 that is encoded in the genome of human.


name: IRAG1_HUMAN Inositol 1,4,5-triphosphate receptor associated 1 (sprot)

description: An inositol 1,4,5-triphosphate receptor associated 1 that is encoded in the genome of human.


undetermined colitis

description: Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.


name: MYO1G_HUMAN Unconventional myosin-Ig (sprot)

description: A myosin-Ig that is encoded in the genome of human.


name: HELT_HUMAN Hairy and enhancer of split-related protein HELT (sprot)

description: A hairy and enhancer of split-related protein HELT that is encoded in the genome of human.


fluorine-18 atom

The radioactive isotope of fluorine with relative atomic mass 18.000938. The longest-lived fluorine radionuclide with half-life of 109.77 min.


name: MFS2B_HUMAN Sphingosine-1-phosphate transporter MFSD2B (sprot)

description: A sphingosine-1-phosphate transporter MFSD2B that is encoded in the genome of human.


name: RAB43_HUMAN Ras-related protein Rab-43 (sprot)

description: A Ras-related protein Rab-43 that is encoded in the genome of human.


enone

An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position.


name: K2C1B_HUMAN Keratin, type II cytoskeletal 1b (sprot)

description: A keratin, type II cytoskeletal 1b that is encoded in the genome of human.


name: CO4A5_HUMAN Collagen alpha-5(IV) chain (sprot)

description: A collagen alpha-5(IV) chain that is encoded in the genome of human.


sodium tungstate

An inorganic sodium salt having tungstate as the counterion. Combines with hydrogen peroxide for the oxidation of secondary amines to nitrones.


SYNEM_HUMAN Synemin (sprot)

A synemin that is encoded in the genome of human.


name: FACR2_HUMAN Fatty acyl-CoA reductase 2 (sprot)

description: A fatty acyl-CoA reductase 2 that is encoded in the genome of human.


long QT syndrome 1

description: An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


name: qualitative or quantitative defects of alpha-dystroglycan


name: ACSM4_HUMAN Acyl-coenzyme A synthetase ACSM4, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM4, mitochondrial that is encoded in the genome of human.


shigellosis

description: Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.


name: GRAP_HUMAN GRB2-related adapter protein (sprot)

description: A GRB2-related adapter protein that is encoded in the genome of human.


growth hormone insensitivity syndrome

description: Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.


adenomyoma

description: A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.


name: TBC24_HUMAN TBC1 domain family member 24 (sprot)

description: A TBC1 domain family member 24 that is encoded in the genome of human.


BTG4_HUMAN Protein BTG4 (sprot)

A protein BTG4 that is encoded in the genome of human.


obstructive hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.


name: DYR_HUMAN Dihydrofolate reductase (sprot)

description: A dihydrofolate reductase that is encoded in the genome of human.


SIAGOSIDE

A sialotetraosylceramide consisting of the disialoganglioside GM1 with a lactone ring formed between C-1 of the NeuNac residue and C-2 of the galactose residue proximal to the ceramide moiety.


name: PF21A_HUMAN PHD finger protein 21A (sprot)

description: A PHD finger protein 21A that is encoded in the genome of human.


occipital horn syndrome

description: Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.


name: GRPE2_HUMAN GrpE protein homolog 2, mitochondrial (sprot)

description: A GrpE protein homolog 2, mitochondrial that is encoded in the genome of human.


name: MAGB2_HUMAN Melanoma-associated antigen B2 (sprot)

description: A melanoma-associated antigen B2 that is encoded in the genome of human.


name: DBX2_HUMAN Homeobox protein DBX2 (sprot)

description: A homeobox protein DBX2 that is encoded in the genome of human.


name: T238L_HUMAN Transmembrane protein 238-like (sprot)

description: A protein that is a translation product of the TMEM238L gene in human.


name: TBA3E_HUMAN Tubulin alpha-3E chain (sprot)

description: A tubulin alpha-3E chain that is encoded in the genome of human.


name: autosomal recessive hypophosphatemic rickets

description: Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.


11-hydroxyundecanoic acid

An omega-hydroxy fatty acid that is undecanoic acid in which one of the hydrogens of the terminal methyl group is replaced by a hydroxy group.


name: DDX51_HUMAN ATP-dependent RNA helicase DDX51 (sprot)

description: An ATP-dependent RNA helicase DDX51 that is encoded in the genome of human.


eyelid sebaceous gland carcinoma

description: A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.


PERT_HUMAN Thyroid peroxidase (sprot)

A thyroid peroxidase that is encoded in the genome of human.


thyrotoxicosis

description: A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.


name: FSTL4_HUMAN Follistatin-related protein 4 (sprot)

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


name: PDXL2_HUMAN Podocalyxin-like protein 2 (sprot)

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


name: PLCX3_HUMAN PI-PLC X domain-containing protein 3 (sprot)

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


name: CACB3_HUMAN Voltage-dependent L-type calcium channel subunit beta-3 (sprot)

description: A voltage-dependent L-type calcium channel subunit beta-3 that is encoded in the genome of human.


name: M18BP_HUMAN Mis18-binding protein 1 (sprot)

description: A Mis18-binding protein 1 that is encoded in the genome of human.


pyridoxal hydrochloride

A hydrochloride obtained by combining pyridoxal with one molar equivalent of hydrochloric acid.


name: VAS1_HUMAN V-type proton ATPase subunit S1 (sprot)

description: A V-type proton ATPase subunit S1 that is encoded in the genome of human.


dodecanoate

A medium-chain fatty acid anion that is the conjugate base of dodecanoic acid (lauric acid); major species at pH 7.3.


lateral medullary syndrome

description: A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.


A 3-hydroxy fatty acid anion that is the conjugate base of 3-hydroxyoctanoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.


RD3_HUMAN Protein RD3 (sprot)

A protein RD3 that is encoded in the genome of human.


isobutyryl-CoA

A short-chain, methyl-branched fatty acyl-CoA that is the S-isobutyryl derivative of coenzyme A.


name: CHMP6_HUMAN Charged multivesicular body protein 6 (sprot)

description: A charged multivesicular body protein 6 that is encoded in the genome of human.


name: LIPP_HUMAN Pancreatic triacylglycerol lipase (sprot)

description: A pancreatic triacylglycerol lipase that is encoded in the genome of human.


name: NIPS1_HUMAN Protein NipSnap homolog 1 (sprot)

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


TESP1_HUMAN Protein TESPA1 (sprot)

A protein TESPA1 that is encoded in the genome of human.


name: TEX12_HUMAN Testis-expressed protein 12 (sprot)

description: A testis-expressed protein 12 that is encoded in the genome of human.


name: OPCM_HUMAN Opioid-binding protein/cell adhesion molecule (sprot)

description: An opioid-binding protein/cell adhesion molecule that is encoded in the genome of human.


dystonia 5

description: Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.


sciatica

description: A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.


parathyroid hyperplasia

description: A hyperplasia that involves the parathyroid gland.


KLK15_HUMAN Kallikrein-15 (sprot)

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


name: GEMC1_HUMAN Geminin coiled-coil domain-containing protein 1 (sprot)

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


name: DRS7B_HUMAN Dehydrogenase/reductase SDR family member 7B (sprot)

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


A trichlorophenol with phenolic substituents on positions 2, 4 and 6.


ELAV3_HUMAN ELAV-like protein 3 (sprot)

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


Ochoa syndrome

description: Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.


name: YPEL2_HUMAN Protein yippee-like 2 (sprot)

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


name: ZNF7_HUMAN Zinc finger protein 7 (sprot)

description: A zinc finger protein 7 that is encoded in the genome of human.


parathyroid gland adenoma

description: A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.


name: NDUF4_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 (sprot)

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


familial prostate carcinoma

description: Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.


ciliopathy

description: A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.


recurrent respiratory papillomatosis

description: Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.


VALERYL SALYCILATE

A valerate ester that is salicylic acid in which the phenolic hydrogen is replaced by a valeryl (pentanoyl) group.


orbit neoplasm

description: A benign or malignant neoplasm that affects the orbit.


name: ZBT45_HUMAN Zinc finger and BTB domain-containing protein 45 (sprot)

description: A zinc finger and BTB domain-containing protein 45 that is encoded in the genome of human.


name: SIDT1_HUMAN SID1 transmembrane family member 1 (sprot)

description: A SID1 transmembrane family member 1 that is encoded in the genome of human.


bisphenol F

A bisphenol that is methane in which two of the hydrogens have been replaced by 4-hydroxyphenyl groups.


name: UBP24_HUMAN Ubiquitin carboxyl-terminal hydrolase 24 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 24 that is encoded in the genome of human.


herpes simplex encephalitis

description: Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.


name: TUT7_HUMAN Terminal uridylyltransferase 7 (sprot)

description: A terminal uridylyltransferase 7 that is encoded in the genome of human.


fezolinetant

A triazolopyrazine that is 5,6,7,8-tetrahydro[1,2,4]triazolo[4,3-a]pyrazine substituted by 3-methyl-1,2,4-thiadiazol-5-yl, 4-fluorobenzoyl and methyl groups at positions 3, 7, and 8R, respectively. It is a prescription medicine used to reduce moderate to severe vasomotor symptoms due to menopause.


name: PP2BB_HUMAN Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform (sprot)

description: A serine/threonine-protein phosphatase 2B catalytic subunit beta isoform that is encoded in the genome of human.


giant hemangioma

description: A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.


name: TMM8B_HUMAN Transmembrane protein 8B (sprot)

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


dyskeratosis congenita

description: Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.


nodular malignant melanoma

description: An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.


name: SVEP1_HUMAN Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 (sprot)

description: A sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 that is encoded in the genome of human.


name: TRI60_HUMAN Tripartite motif-containing protein 60 (sprot)

description: A tripartite motif-containing protein 60 that is encoded in the genome of human.


mild phenylketonuria

description: Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.


name: S7A14_HUMAN Solute carrier family 7 member 14 (sprot)

description: A solute carrier family 7 member 14 that is encoded in the genome of human.


epiglottitis

description: Inflammation of the epiglottis.


name: CCG1_HUMAN Voltage-dependent calcium channel gamma-1 subunit (sprot)

description: A voltage-dependent calcium channel gamma-1 subunit that is encoded in the genome of human.


name: KLH12_HUMAN Kelch-like protein 12 (sprot)

description: A kelch-like protein 12 that is encoded in the genome of human.


abarelix

A polypeptide compound composed of ten natural and non-natural amino acid resiudes in a linear sequence.


glycidyl methacrylate

An enoate ester obtained by formal condensation of the carboxy group of methacrylic acid with the hydroxy group of glycidol.


name: DEPD5_HUMAN GATOR1 complex protein DEPDC5 (sprot)

description: A GATOR1 complex protein DEPDC5 that is encoded in the genome of human.


PHENYLEPHRINE HYDROCHLORIDE

A hydrochloride that is the monohydrochloride salt of phenylephrine.


malignant glomus tumor

description: A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.


name: MTMRE_HUMAN Myotubularin-related protein 14 (sprot)

description: A myotubularin-related protein 14 that is encoded in the genome of human.


name: IQCB1_HUMAN IQ calmodulin-binding motif-containing protein 1 (sprot)

description: An IQ calmodulin-binding motif-containing protein 1 that is encoded in the genome of human.


name: PBIR1_HUMAN PPP2R1A-PPP2R2A-interacting phosphatase regulator 1 (sprot)

description: A PPP2R1A-PPP2R2A-interacting phosphatase regulator 1 that is encoded in the genome of human.


name: ZDH13_HUMAN Palmitoyltransferase ZDHHC13 (sprot)

description: A palmitoyltransferase ZDHHC13 that is encoded in the genome of human.


microvillus inclusion disease

description: Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.


Acute esophageal necrosis

description: A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.


paranasal sinus carcinoma

description: A malignant epithelial neoplasm arising in the paranasal sinus.


name: RPGF1_HUMAN Rap guanine nucleotide exchange factor 1 (sprot)

description: A Rap guanine nucleotide exchange factor 1 that is encoded in the genome of human.


name: SG11A_HUMAN Sperm-associated antigen 11A (sprot)

description: A sperm-associated antigen 11A that is encoded in the genome of human.


name: CEP63_HUMAN Centrosomal protein of 63 kDa (sprot)

description: A centrosomal protein of 63 kDa that is encoded in the genome of human.


TEN4_HUMAN Teneurin-4 (sprot)

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


name: RGF1B_HUMAN Ras-GEF domain-containing family member 1B (sprot)

description: A Ras-GEF domain-containing family member 1B that is encoded in the genome of human.


autoimmune neuropathy

description: An autoimmune form of peripheral neuropathy.


name: MEX3B_HUMAN RNA-binding protein MEX3B (sprot)

description: An RNA-binding protein MEX3B that is encoded in the genome of human.


name: TTLL3_HUMAN Tubulin monoglycylase TTLL3 (sprot)

description: A tubulin monoglycylase TTLL3 that is encoded in the genome of human.


name: TTLL8_HUMAN Protein monoglycylase TTLL8 (sprot)

description: A protein monoglycylase TTLL8 that is encoded in the genome of human.


congenital factor V deficiency

description: Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.


name: THAP7_HUMAN THAP domain-containing protein 7 (sprot)

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


von Willebrand disease type 2B

description: A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.


name: I11RA_HUMAN Interleukin-11 receptor subunit alpha (sprot)

description: An interleukin-11 receptor subunit alpha that is encoded in the genome of human.


name: PI15_HUMAN Peptidase inhibitor 15 (sprot)

description: A peptidase inhibitor 15 that is encoded in the genome of human.


fungal infectious disease

description: An infection caused by a fungus.


name: LTN1_HUMAN E3 ubiquitin-protein ligase listerin (sprot)

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


name: LRC59_HUMAN Leucine-rich repeat-containing protein 59 (sprot)

description: A leucine-rich repeat-containing protein 59 that is encoded in the genome of human.


RNC_HUMAN Ribonuclease 3 (sprot)

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


name: SC5A4_HUMAN Probable glucose sensor protein SLC5A4 (sprot)

description: A probable glucose sensor protein SLC5A4 that is encoded in the genome of human.


name: DYH2_HUMAN Dynein axonemal heavy chain 2 (sprot)

description: A dynein axonemal heavy chain 2 that is encoded in the genome of human.


meninges hemangiopericytoma

description: A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.


name: AP1M2_HUMAN AP-1 complex subunit mu-2 (sprot)

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


cetyl alcohol

A long-chain primary fatty alcohol that is hexadecane substituted by a hydroxy group at position 1.


name: KCIP4_HUMAN Kv channel-interacting protein 4 (sprot)

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


RHPN2_HUMAN Rhophilin-2 (sprot)

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


Nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.


name: CAPAM_HUMAN mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase (sprot)

description: An mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase that is encoded in the genome of human.


lentivirus infection

description: Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.


name: TRIMM_HUMAN Probable E3 ubiquitin-protein ligase TRIML2 (sprot)

description: A probable E3 ubiquitin-protein ligase TRIML2 that is encoded in the genome of human.


ATTRV122I amyloidosis

description: A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.


clivus chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.


pulmonary alveolar microlithiasis

description: Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.


name: RFX7_HUMAN DNA-binding protein RFX7 (sprot)

description: A DNA-binding protein RFX7 that is encoded in the genome of human.


name: AP1AR_HUMAN AP-1 complex-associated regulatory protein (sprot)

description: An AP-1 complex-associated regulatory protein that is encoded in the genome of human.


name: LCN12_HUMAN Epididymal-specific lipocalin-12 (sprot)

description: An epididymal-specific lipocalin-12 that is encoded in the genome of human.


ovarian ectopic pregnancy

description: An abnormal pregnancy in which the conception is implanted on the ovary.


name: KXDL1_HUMAN KxDL motif-containing protein 1 (sprot)

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


name: SH3R1_HUMAN E3 ubiquitin-protein ligase SH3RF1 (sprot)

description: An E3 ubiquitin-protein ligase SH3RF1 that is encoded in the genome of human.


glomus tumor

description: A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.


name: CAD26_HUMAN Cadherin-like protein 26 (sprot)

description: A cadherin-like protein 26 that is encoded in the genome of human.


name: METL4_HUMAN N(6)-adenine-specific methyltransferase METTL4 (sprot)

description: An N(6)-adenine-specific methyltransferase METTL4 that is encoded in the genome of human.


IFNL2_HUMAN Interferon lambda-2 (sprot)

An interleukin-28A that is encoded in the genome of human.


name: IGLO5_HUMAN IgLON family member 5 (sprot)

description: An IgLON family member 5 that is encoded in the genome of human.


erythropoietic protoporphyria

description: A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.


hyper-beta-alaninemia

description: Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


name: SH2B2_HUMAN SH2B adapter protein 2 (sprot)

description: An SH2B adapter protein 2 that is encoded in the genome of human.


name: RNF38_HUMAN E3 ubiquitin-protein ligase RNF38 (sprot)

description: An E3 ubiquitin-protein ligase RNF38 that is encoded in the genome of human.


FSCN2_HUMAN Fascin-2 (sprot)

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


folic acid deficiency anemia

description: Anemia caused by folate deficiency.


name: MAFA_HUMAN Transcription factor MafA (sprot)

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


name: FIBP_HUMAN Acidic fibroblast growth factor intracellular-binding protein (sprot)

description: An acidic fibroblast growth factor intracellular-binding protein that is encoded in the genome of human.


name: GRAP1_HUMAN GRIP1-associated protein 1 (sprot)

description: A GRIP1-associated protein 1 that is encoded in the genome of human.


name: WDR74_HUMAN WD repeat-containing protein 74 (sprot)

description: A WD repeat-containing protein 74 that is encoded in the genome of human.


D-glucaric acid

The D-enantiomer of glucaric acid.


indeterminate colitis

description: It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.


5-methoxyindole-2-carboxylic acid

An indolecarboxylic acid that is indole-2-carboxylic acid carrying an additional methoxy substituent at position 5.


name: NUD19_HUMAN Acyl-coenzyme A diphosphatase NUDT19 (sprot)

description: An acyl-coenzyme A diphosphatase NUDT19 that is encoded in the genome of human.


classic phenylketonuria

description: Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.


name: TMM44_HUMAN Transmembrane protein 44 (sprot)

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


inborn error of immunity

description: A disorder in which the immune system is unable to mount an adequate immune response.


epithelioid trophoblastic tumor

description: An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.


name: CND2_HUMAN Condensin complex subunit 2 (sprot)

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


name: TMX3_HUMAN Protein disulfide-isomerase TMX3 (sprot)

description: A protein disulfide-isomerase TXNDC10 that is encoded in the genome of human.


name: MIT family translocation renal cell carcinoma

description: MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.


NRX2A_HUMAN Neurexin-2 (sprot)

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


name: SSH3_HUMAN Protein phosphatase Slingshot homolog 3 (sprot)

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


name: RT4I1_HUMAN Reticulon-4-interacting protein 1, mitochondrial (sprot)

description: A reticulon-4-interacting protein 1 that is encoded in the genome of human.


NOE3_HUMAN Noelin-3 (sprot)

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


name: GID4_HUMAN Glucose-induced degradation protein 4 homolog (sprot)

description: A glucose-induced degradation protein 4 homolog that is encoded in the genome of human.


name: ANKE1_HUMAN Ankyrin repeat and EF-hand domain-containing protein 1 (sprot)

description: An ankyrin repeat and EF-hand domain-containing protein 1 that is encoded in the genome of human.


STMN3_HUMAN Stathmin-3 (sprot)

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


malignant urinary system neoplasm

description: A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.


name: TEP1_HUMAN Telomerase protein component 1 (sprot)

description: A telomerase protein component 1 that is encoded in the genome of human.


small intestine carcinoma

description: A carcinoma that arises from epithelial cells of the small intestine


name: NUD18_HUMAN 8-oxo-dGDP phosphatase NUDT18 (sprot)

description: An 8-oxo-dGDP phosphatase NUDT18 that is encoded in the genome of human.


name: amyotrophic lateral sclerosis type 2, juvenile

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.


primary intestinal lymphangiectasia

description: Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.


name: FGF12_HUMAN Fibroblast growth factor 12 (sprot)

description: A fibroblast growth factor 12 that is encoded in the genome of human.


pineal region germinoma

description: A germinoma that arises from the pineal gland.


Myoclonus

description: Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.


D-xylulose 5-phosphate

The D-enantiomer of xylulose 5-phosphate.


Epileptic aura

description: An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


arformoterol

An N-[2-hydroxy-5-(1-hydroxy-2-{[1-(4-methoxyphenyl)propan-2-yl]amino}ethyl)phenyl]formamide in which both of the stereocentres have R configuration. The active enantiomer of formoterol, it is administered by inhalation (generally as the tartrate salt) as a direct-acting sympathomimetic and  bronchodilator for the treatment of chronic obstructive pulmonary disease (any progressive respiratory disease that makes it harder to breathe over time, such as chronic bronchitis and emphysema).


name: TI17B_HUMAN Mitochondrial import inner membrane translocase subunit Tim17-B (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim17-B that is encoded in the genome of human.


Pelizeaus-Merzbacher spectrum disorder

description: An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.


LIQUIRTIGENIN

A dihydroxyflavanone compound having the two hydroxy substituents at the 4'- and 7-positions. Isolated from the root of Glycyrrhizae uralensis, it is a selective agonist for oestrogen receptor beta.


name: arteritic anterior ischemic optic neuropathy

description: An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)


name: GOPC_HUMAN Golgi-associated PDZ and coiled-coil motif-containing protein (sprot)

description: A Golgi-associated PDZ and coiled-coil motif-containing protein that is encoded in the genome of human.


phloxine B

An organic sodium salt that is the disodium salt of 2,3,4,5-tetrachloro-6-(2,4,5,7-tetrabromo-6-hydroxy-3-oxo-3H-xanthen-9-yl)benzoic acid. It is used in the hematoxylin phloxine saffron (HPS) stain, stains paneth cell granules in Lendrum's phloxine-tartrazine method, and can be used to demonstrate alcoholic hyaline.


4-nitroanthranilic acid

An aminobenzoic acid that is anthranilic acid with a nitro substituent at position 4.


otosclerosis

description: Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.


sodium selenate

An inorganic sodium salt having selenate as the counterion.


thymus gland adenocarcinoma

description: A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.


name: PLPL1_HUMAN Omega-hydroxyceramide transacylase (sprot)

description: An omega-hydroxyceramide transacylase that is encoded in the genome of human.


amyotrophic lateral sclerosis type 21

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.


name: CEP85_HUMAN Centrosomal protein of 85 kDa (sprot)

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


schneckenbecken dysplasia

description: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


name: NFE4_HUMAN Transcription factor NF-E4 (sprot)

description: A transcription factor NF-E4 that is encoded in the genome of human.


name: AP2B1_HUMAN AP-2 complex subunit beta (sprot)

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


CIMICOXIB

An imidazole substituted at positions 1, 4 and 5 by 4-aminosulfonylphenyl, chloro and 3-fluoro-4-methyoxyphenyl groups respectively. A selective cyclooxygenase 2 inhibitor, it is used in veterinary medicine for the control of pain and inflammation associated with osteoarthritis in dogs.


RFLB_HUMAN Refilin-B (sprot)

A refilin-B that is encoded in the genome of human.


Crohn's colitis

description: Crohn's disease affecting the colon.


A nitroaniline carrying a nitro group at position 4.


name: KLDC3_HUMAN Kelch domain-containing protein 3 (sprot)

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


name: R4RL1_HUMAN Reticulon-4 receptor-like 1 (sprot)

description: A reticulon-4 receptor-like 1 that is encoded in the genome of human.


Claustrophobia

description: An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.


cerebral degeneration

description: A neurodegenerative disease that involves the telencephalon.


chronic apical periodontitis

description: Chronic form of periapical periodontitis.


ovarian yolk sac tumor

description: A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.


name: MED25_HUMAN Mediator of RNA polymerase II transcription subunit 25 (sprot)

description: A mediator of RNA polymerase II transcription subunit 25 that is encoded in the genome of human.


name: SUMF1_HUMAN Formylglycine-generating enzyme (sprot)

description: A formylglycine-generating enzyme that is encoded in the genome of human.


name: AMRP_HUMAN Alpha-2-macroglobulin receptor-associated protein (sprot)

description: An alpha-2-macroglobulin receptor-associated protein that is encoded in the genome of human.


frontonasal dysplasia

description: A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.


name: CFA91_HUMAN Cilia- and flagella-associated protein 91 (sprot)

description: A cilia- and flagella-associated protein 91 that is encoded in the genome of human.


basaloid squamous cell carcinoma

description: A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.


name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

description: A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.


lymphatic malformation

description: Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.


nemaline myopathy 2

description: An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.


name: UPP2_HUMAN Uridine phosphorylase 2 (sprot)

description: A uridine phosphorylase 2 that is encoded in the genome of human.


NOSTN_HUMAN Nostrin (sprot)

A nostrin that is encoded in the genome of human.


name: WDR91_HUMAN WD repeat-containing protein 91 (sprot)

description: A WD repeat-containing protein 91 that is encoded in the genome of human.


tubal pregnancy

description: An abnormal pregnancy in which the conception is implanted in the fallopian tube.


brainstem neoplasm

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


name: CC14B_HUMAN Dual specificity protein phosphatase CDC14B (sprot)

description: A dual specificity protein phosphatase CDC14B that is encoded in the genome of human.


name: NOP16_HUMAN Nucleolar protein 16 (sprot)

description: A nucleolar protein 16 that is encoded in the genome of human.


pancreatic cholera

description: A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.


name: HAUS6_HUMAN HAUS augmin-like complex subunit 6 (sprot)

description: A HAUS augmin-like complex subunit 6 that is encoded in the genome of human.


colfosceril palmitate

A phosphatidylcholine 32:0 in which the 1- and 2-acyl groups are specified as hexadecanoyl (palmitoyl). A synthetic phospholipid used in liposomes and lipid bilayers to study biological membranes. It is also a major constituent of pulmonary surfactants.


neonatal glycine encephalopathy

description: Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.


estazolam

A triazolo[4,3-a][1,4]benzodiazepine having a phenyl group at position 6 and a chloro substituent at position 8. A short-acting benzodiazepine with general properties similar to diazepam, it is given by mouth as a hypnotic in the short-term management of insomnia.


choreatic disease

description: A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.


Acute hyperammonemia

description: An increased concentration of ammonia in the blood with sudden onset.


name: PHRF1_HUMAN PHD and RING finger domain-containing protein 1 (sprot)

description: A PHD and RING finger domain-containing protein 1 that is encoded in the genome of human.


Follicular hyperkeratosis

description: A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


FIGN_HUMAN Fidgetin (sprot)

A fidgetin that is encoded in the genome of human.


menadione sodium bisulfite

An organosulfonic acid obtained by formal hydrosulfonation across the 2 and 3 positions of menadione.


name: COQ3_HUMAN Ubiquinone biosynthesis O-methyltransferase, mitochondrial (sprot)

description: A ubiquinone biosynthesis O-methyltransferase, mitochondrial that is encoded in the genome of human.


name: KI26B_HUMAN Kinesin-like protein KIF26B (sprot)

description: A kinesin-like protein KIF26B that is encoded in the genome of human.


WWC3_HUMAN Protein WWC3 (sprot)

A protein WWC3 that is encoded in the genome of human.


name: NDUBA_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 that is encoded in the genome of human.


Dowling-Degos disease

description: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.


S10AG_HUMAN Protein S100-A16 (sprot)

A protein S100-A16 that is encoded in the genome of human.


PCD17_HUMAN Protocadherin-17 (sprot)

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


extramedullary plasmacytoma

description: A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.


Monomorphic ventricular tachycardia

description: A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).


Facial diplegia

description: Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).


Intellectual disability, moderate

description: Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.


prostate lymphoma

description: A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.


name: TAAR9_HUMAN Trace amine-associated receptor 9 (sprot)

description: A trace amine-associated receptor 9 that is encoded in the genome of human.


normal pressure hydrocephalus

description: A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)


name: RPA34_HUMAN DNA-directed RNA polymerase I subunit RPA34 (sprot)

description: A DNA-directed RNA polymerase I subunit RPA34 that is encoded in the genome of human.


anaerobic pneumonia

description: A pneumonia caused by anaerobic bacteria.


name: PERM1_HUMAN PGC-1 and ERR-induced regulator in muscle protein 1 (sprot)

description: A PGC-1 and ERR-induced regulator in muscle protein 1 that is encoded in the genome of human.


Urinary bladder wall hypertrophy

description: Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.


Refractory status epilepticus

description: Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


name: FSTL5_HUMAN Follistatin-related protein 5 (sprot)

description: A follistatin-related protein 5 that is encoded in the genome of human.


name: childhood acute megakaryoblastic leukemia

description: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


name: tetramethylrhodamine ethyl ester perchlorate

description: An organic perchlorate salt that has tetramethylrhodamine ethyl ester(1+) as the cation. It is used as a cell-permeant, cationic, red-orange fluorescent dye that is readily sequestered by active mitochondria.


auriculocondylar syndrome

description: Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.


periampullary adenocarcinoma

description: An adenocarcinoma that arises from the periampullary region.


name: PSD3_HUMAN PH and SEC7 domain-containing protein 3 (sprot)

description: A PH and SEC7 domain-containing protein 3 that is encoded in the genome of human.


name: SYWC_HUMAN Tryptophan--tRNA ligase, cytoplasmic (sprot)

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


IDS_HUMAN Iduronate 2-sulfatase (sprot)

An iduronate 2-sulfatase that is encoded in the genome of human.


name: SYN1L_HUMAN Synapse differentiation-inducing gene protein 1-like (sprot)

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


name: ENTP3_HUMAN Ectonucleoside triphosphate diphosphohydrolase 3 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 3 that is encoded in the genome of human.


testicular teratoma

description: A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.


name: RAB4B_HUMAN Ras-related protein Rab-4B (sprot)

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


name: COPB2_HUMAN Coatomer subunit beta' (sprot)

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


dexmethylphenidate

A methyl phenyl(piperidin-2-yl)acetate in which both stereocentres have R configuration.  It is the active enantiomer in the racemic drug methylphenidate.


EUFLAVINE

The 10-methochloride salt of 3,6-diaminoacridine. Note that a mixture of this compound with 3,6-diaminoacridine (proflavine) is known as acriflavine or neutral acriflavine.


name: LRP11_HUMAN Low-density lipoprotein receptor-related protein 11 (sprot)

description: A low-density lipoprotein receptor-related protein 11 that is encoded in the genome of human.


name: RIDA_HUMAN 2-iminobutanoate/2-iminopropanoate deaminase (sprot)

description: A 2-iminobutanoate/2-iminopropanoate deaminase that is encoded in the genome of human.


name: AKD1A_HUMAN Ankyrin repeat and death domain-containing protein 1A (sprot)

description: An ankyrin repeat and death domain-containing protein 1A that is encoded in the genome of human.


hyperlipoproteinemia type 3

description: Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.


APOL6_HUMAN Apolipoprotein L6 (sprot)

An apolipoprotein L6 that is encoded in the genome of human.


TASOR_HUMAN Protein TASOR (sprot)

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


name: ZN471_HUMAN Zinc finger protein 471 (sprot)

description: A zinc finger protein 471 that is encoded in the genome of human.


(R)-BICALUTAMIDE

A N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methylpropanamide that is the (R)-enantiomer of bicalutamide.


name: PKNX2_HUMAN Homeobox protein PKNOX2 (sprot)

description: A homeobox protein PKNOX2 that is encoded in the genome of human.


name: ZNT4_HUMAN Probable proton-coupled zinc antiporter SLC30A4 (sprot)

description: A probable proton-coupled zinc antiporter SLC30A4 that is encoded in the genome of human.


Recurrent cystitis

description: Repeated infections of the urinary bladder.


name: ZN274_HUMAN Neurotrophin receptor-interacting factor homolog (sprot)

description: A neurotrophin receptor-interacting factor that is encoded in the genome of human.


undifferentiated ovarian carcinoma

description: An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.


chlorate salt

Any salt that has chlorate, [ClO3](-), as the anionic component.


Miosis

description: Abnormal (non-physiological) constriction of the pupil.


hereditary motor and sensory neuropathy

description: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


NPW_HUMAN Neuropeptide W (sprot)

A neuropeptide W that is encoded in the genome of human.


pertussis

description: A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.


mood disorder

description: A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.


vascular disorder of penis

description: A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.


name: HLAC_HUMAN HLA class I histocompatibility antigen, C alpha chain (sprot)

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


heart lymphoma

description: An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.


Anisopoikilocytosis

description: A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.


bendazac

A monocarboxylic acid that is glycolic acid in which the hydrogen attached to the 2-hydroxy group is replaced by a 1-benzyl-1H-indazol-3-yl group. Although it has anti-inflammatory, antinecrotic, choleretic and antilipidaemic properties and has been used for the treatment of various inflammatory skin disorders, its principal effect is to inhibit the denaturation of proteins. Its lysine salt is used in the management of cataracts.


name: TULP2_HUMAN Tubby-related protein 2 (sprot)

description: A tubby-related protein 2 that is encoded in the genome of human.


mononeuropathy

description: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.


name: HERP2_HUMAN Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein (sprot)

description: A homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein that is encoded in the genome of human.


name: NFAM1_HUMAN NFAT activation molecule 1 (sprot)

description: An NFAT activation molecule 1 that is encoded in the genome of human.


neuroepithelial neoplasm

description: A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.


name: PRPS1_HUMAN Ribose-phosphate pyrophosphokinase 1 (sprot)

description: A ribose-phosphate pyrophosphokinase 1 that is encoded in the genome of human.


olecranon bursitis

description: A bursitis that involves the olecranon.


neuroferritinopathy

description: Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.


name: LRFN3_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 3 (sprot)

description: A leucine-rich repeat and fibronectin type-III domain-containing protein 3 that is encoded in the genome of human.


Aicardi-Goutieres syndrome

description: Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.


name: FCERB_HUMAN High affinity immunoglobulin epsilon receptor subunit beta (sprot)

description: A high affinity immunoglobulin epsilon receptor subunit beta that is encoded in the genome of human.


OXIRANE

A  saturated organic heteromonocyclic parent that is a three-membered heterocycle of two carbon atoms and one oxygen atom.


Hypoglycorrhachia

description: Abnormally low glucose concentration in the cerebrospinal fluid.


Löfgren syndrome

description: A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.


asukamycin

A polyketide that is a member of the manumycin family of antibiotics and exhibits strong antibacterial, antifungal, and antineoplastic activities. Isolated from from the actinomycete bacterium Streptomyces nodosus subsp. asukaensis.


name: RABE2_HUMAN Rab GTPase-binding effector protein 2 (sprot)

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


sialidosis type 2

description: A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.


REBL1_HUMAN GTPase RhebL1 (sprot)

A GTPase RhebL1 that is encoded in the genome of human.


name: CDHR3_HUMAN Cadherin-related family member 3 (sprot)

description: A cadherin-related family member 3 that is encoded in the genome of human.


name: SIAL_HUMAN Integrin-binding sialoprotein (sprot)

description: A bone sialoprotein 2 that is encoded in the genome of human.


lethal osteosclerotic bone dysplasia

description: Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.


name: LRAD2_HUMAN Low-density lipoprotein receptor class A domain-containing protein 2 (sprot)

description: A low-density lipoprotein receptor class A domain-containing protein 2 that is encoded in the genome of human.


name: SRTD4_HUMAN SERTA domain-containing protein 4 (sprot)

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


name: PDE6C_HUMAN Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' (sprot)

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


Kindler syndrome

description: Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.


hypoactive sexual desire disorder

description: A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.


PFD4_HUMAN Prefoldin subunit 4 (sprot)

A prefoldin subunit 4 that is encoded in the genome of human.


Gastrointestinal telangiectasia

description: Telangiectasia affecting the gastrointestinal tract.


PROCARBAZINE HYDROCHLORIDE

A hydrochloride obtained by combining procarbazine with one equivalent of hydrochloric acid. An antineoplastic chemotherapy drug used for treatment of Hodgkin's lymphoma. Metabolism yields azo-procarbazine and hydrogen peroxide, which results in the breaking of DNA strands.


ABHD3_HUMAN Phospholipase ABHD3 (sprot)

A phospholipase ABHD3 that is encoded in the genome of human.


name: NDUC2_HUMAN NADH dehydrogenase [ubiquinone] 1 subunit C2 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 that is encoded in the genome of human.


name: familial juvenile hyperuricemic nephropathy


Odynophagia

description: Pain experienced with swallowing.


A 1-acyl-sn-glycerol in which the acyl group is specified as oleoyl.


Ascites

description: Accumulation of fluid in the peritoneal cavity.


name: IMA7_HUMAN Importin subunit alpha-7 (sprot)

description: An importin subunit alpha-7 that is encoded in the genome of human.


name: CTU1_HUMAN Cytoplasmic tRNA 2-thiolation protein 1 (sprot)

description: A cytoplasmic tRNA 2-thiolation protein 1 that is encoded in the genome of human.


external ear disorder

description: A disease involving the external ear.


name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome

description: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.


Embelin

A member of the class of dihydroxy-1,4-benzoquinones that is 2,5-dihydroxy-1,4-benzoquinone which is substituted by an undecyl group at position 3. Isolated from Lysimachia punctata and Embelia ribes, it exhibits antimicrobial, antineoplastic and inhibitory activity towards hepatitis C protease.


neuroaspergillosis

description: Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)


autosomal dominant hypocalcemia 1

description: Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.


RED_HUMAN Protein Red (sprot)

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


cutaneous pseudolymphoma

description: A pseudolymphoma of the skin.


DOK6_HUMAN Docking protein 6 (sprot)

A docking protein 6 that is encoded in the genome of human.


Escherichia coli meningitis

description: A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)


name: ZFP57_HUMAN Zinc finger protein 57 homolog (sprot)

description: A zinc finger protein 57 homolog that is encoded in the genome of human.


name: LBX2_HUMAN Transcription factor LBX2 (sprot)

description: A transcription factor LBX2 that is encoded in the genome of human.


name: FXL12_HUMAN F-box/LRR-repeat protein 12 (sprot)

description: An F-box/LRR-repeat protein 12 that is encoded in the genome of human.


name: ADIP_HUMAN Afadin- and alpha-actinin-binding protein (sprot)

description: An afadin- and alpha-actinin-binding protein that is encoded in the genome of human.


name: CCD25_HUMAN Coiled-coil domain-containing protein 25 (sprot)

description: A coiled-coil domain-containing protein 25 that is encoded in the genome of human.


name: CADM2_HUMAN Cell adhesion molecule 2 (sprot)

description: A cell adhesion molecule 2 that is encoded in the genome of human.


name: BEND3_HUMAN BEN domain-containing protein 3 (sprot)

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


bone benign neoplasm

description: A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.


buclizine

An N-alkylpiperazine carrying (4-chlorophenyl)(phenyl)methyl and 4-tert-butylbenzyl groups.


A 2-oxo monocarboxylic acid that is the 2-oxo derivative of isovaleric acid.


Chorioretinal atrophy

description: Atrophy of the choroid and retinal layers of the fundus.


1-Aminocyclopropane carboxylic acid

A non-proteinogenic alpha-amino acid consisting of cyclopropane having amino and carboxy substituents both at the 1-position.


angiokeratoma of Fordyce

description: An angiokeratoma that is located on the scrotum or vulva.


name: INT9_HUMAN Integrator complex subunit 9 (sprot)

description: An integrator complex subunit 9 that is encoded in the genome of human.


name: PSD4_HUMAN PH and SEC7 domain-containing protein 4 (sprot)

description: A PH and SEC7 domain-containing protein 4 that is encoded in the genome of human.


transient tyrosinemia of the newborn

description: A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.


name: Progressive sensorineural hearing impairment

description: A progressive form of sensorineural hearing impairment.


A positively charged methylguanosine in which a single methyl substituent is located at position 7.


name: CSTF1_HUMAN Cleavage stimulation factor subunit 1 (sprot)

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


TSN31_HUMAN Tetraspanin-31 (sprot)

A tetraspanin-31 that is encoded in the genome of human.


ARFP1_HUMAN Arfaptin-1 (sprot)

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


ANDROSTANDIOL

The 5alpha-stereoisomer of androstane-3alpha,17beta-diol.


nodular cutaneous amyloidosis

description: Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.


name: hereditary sensory and autonomic neuropathy

description: An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.


name: ARK73_HUMAN Aflatoxin B1 aldehyde reductase member 3 (sprot)

description: An aflatoxin B1 aldehyde reductase member 3 that is encoded in the genome of human.


name: THUM1_HUMAN THUMP domain-containing protein 1 (sprot)

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


GAGE6_HUMAN G antigen 6 (sprot)

A G antigen 6 that is encoded in the genome of human.


CIPROFLOXACIN HYDROCHLORIDE

The anhydrous form of the monohydrochloride salt of ciprofloxacin.


name: WDR62_HUMAN WD repeat-containing protein 62 (sprot)

description: A WD repeat-containing protein 62 that is encoded in the genome of human.


retina neoplasm

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


The monocarboxylic acid amide resulting from the formal condensation of the aryl amino group of 3-methyl-N-phenyl-1-(2-phenylethyl)piperidin-4-amine with propanoic acid.


name: TM244_HUMAN Putative transmembrane protein 244 (sprot)

description: A putative transmembrane protein 244 that is encoded in the genome of human.


Severe lactic acidosis

description: A severe form of lactic acidemia.


name: HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 (sprot)

description: A 2-hydroxyacyl-CoA lyase 1 that is encoded in the genome of human.


name: CILP1_HUMAN Cartilage intermediate layer protein 1 (sprot)

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


Bipedal edema

description: A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).


phenylacetate

A monocarboxylic acid anion that is the conjugate base of phenylacetic acid.


cucurbitacin

Any one of a class of tetracyclic triterpenoids, formally derived from the triterpene hydrocarbon cucurbitane, developed by some plants (especially those of the family Cucurbitaceaeas) as a defence mechanism against herbivores.


sodium feredetate

An iron chelate resulting from the deprotonation of all four carboxy groups of ethylenediaminetetraacetic acid and the addition of an iron(3+) and a sodium ion. It is used for the treatment of iron deficiency anaemia.


cervical incompetence

description: A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.


PRELP_HUMAN Prolargin (sprot)

A prolargin that is encoded in the genome of human.


name: SLAI2_HUMAN SLAIN motif-containing protein 2 (sprot)

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


name: EIF3C_HUMAN Eukaryotic translation initiation factor 3 subunit C (sprot)

description: A protein that is a translation product of the EIF3C gene in human.


familial cold autoinflammatory syndrome

description: Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.


name: OAZ2_HUMAN Ornithine decarboxylase antizyme 2 (sprot)

description: An ornithine decarboxylase antizyme 2 that is encoded in the genome of human.


name: UBP29_HUMAN Ubiquitin carboxyl-terminal hydrolase 29 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 29 that is encoded in the genome of human.


name: BHMT1_HUMAN Betaine--homocysteine S-methyltransferase 1 (sprot)

description: A betaine--homocysteine S-methyltransferase 1 that is encoded in the genome of human.


name: LAR1B_HUMAN La-related protein 1B (sprot)

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


Pancreatic dysplasia

description: The presence of developmental dysplasia of the pancreas.


Handgrip myotonia

description: Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.


name: CYTIP_HUMAN Cytohesin-interacting protein (sprot)

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


skin sarcoma

description: A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.


name: SMA5O_HUMAN SMAD5 antisense gene protein 1 (sprot)

description: A SMAD5 antisense gene protein 1 that is encoded in the genome of human.


name: GBX1_HUMAN Homeobox protein GBX-1 (sprot)

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


name: SMBT2_HUMAN Scm-like with four MBT domains protein 2 (sprot)

description: An Scm-like with four MBT domains protein 2 that is encoded in the genome of human.


OXICONAZOLE NITRATE

An organic nitrate salt resulting from the reaction of equimolar amounts of oxiconazole and nitric acid. An antifungal agent, it is used in creams and powders for the topical treatment of fungal skin infections.


name: MITOK_HUMAN Mitochondrial potassium channel (sprot)

description: A mitochondrial potassium channel that is encoded in the genome of human.


EPPI_HUMAN Eppin (sprot)

An eppin that is encoded in the genome of human.


name: DYHC1_HUMAN Cytoplasmic dynein 1 heavy chain 1 (sprot)

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


name: TPPC3_HUMAN Trafficking protein particle complex subunit 3 (sprot)

description: A trafficking protein particle complex subunit 3 that is encoded in the genome of human.


NXPH1_HUMAN Neurexophilin-1 (sprot)

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


name: HNRPK_HUMAN Heterogeneous nuclear ribonucleoprotein K (sprot)

description: A heterogeneous nuclear ribonucleoprotein K that is encoded in the genome of human.


Schnitzler syndrome

description: A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.


name: ZC3H1_HUMAN Zinc finger C3H1 domain-containing protein (sprot)

description: A zinc finger C3H1 domain-containing protein that is encoded in the genome of human.


name: CMC4_HUMAN Cx9C motif-containing protein 4 (sprot)

description: A Cx9C motif-containing protein 4 that is encoded in the genome of human.


name: CR3L3_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 3 (sprot)

description: A cyclic AMP-responsive element-binding protein 3-like protein 3 that is encoded in the genome of human.


name: ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly factor 2 (sprot)

description: An ATP synthase mitochondrial F1 complex assembly factor 2 that is encoded in the genome of human.


Zika virus congenital syndrome

description: A congenital birth syndrome that arises from materal Zika infection.


acute transudative otitis media

description: Acute form of non-suppurative otitis media.


name: PAQR8_HUMAN Membrane progestin receptor beta (sprot)

description: A membrane progestin receptor beta that is encoded in the genome of human.


name: PUS10_HUMAN tRNA pseudouridine synthase Pus10 (sprot)

description: A tRNA pseudouridine synthase Pus10 that is encoded in the genome of human.


name: 7B2_HUMAN Neuroendocrine protein 7B2 (sprot)

description: A neuroendocrine protein 7B2 that is encoded in the genome of human.


LEVOBUNOLOL HYDROCHLORIDE

A hydrochloride obtained by combining equimolar amounts of levobunolol and hydrochloric acid. A non-selective beta-adrenergic antagonist used for treatment of glaucoma.


name: ICLN_HUMAN Methylosome subunit pICln (sprot)

description: A methylosome subunit pICln that is encoded in the genome of human.


name: GPR75_HUMAN Probable G-protein coupled receptor 75 (sprot)

description: A probable G-protein coupled receptor 75 that is encoded in the genome of human.


name: TULP1_HUMAN Tubby-related protein 1 (sprot)

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


superficial epidermolytic ichthyosis

description: Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.


name: G3ST1_HUMAN Galactosylceramide sulfotransferase (sprot)

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


name: TA2R5_HUMAN Taste receptor type 2 member 5 (sprot)

description: A taste receptor type 2 member 5 that is encoded in the genome of human.


nephrogenic adenoma

description: So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.


name: ABCB9_HUMAN ABC-type oligopeptide transporter ABCB9 (sprot)

description: An ABC-type oligopeptide transporter ABCB9 that is encoded in the genome of human.


name: PP2BC_HUMAN Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform (sprot)

description: A serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform that is encoded in the genome of human.


name: FAKD5_HUMAN FAST kinase domain-containing protein 5, mitochondrial (sprot)

description: A FAST kinase domain-containing protein 5, mitochondrial that is encoded in the genome of human.


choroid neoplasm

description: A neoplasm (disease) that involves the optic choroid.


mesoblastic nephroma

description: A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.


name: OTOP1_HUMAN Proton channel OTOP1 (sprot)

description: A proton channel OTOP1 that is encoded in the genome of human.


name: LRRT3_HUMAN Leucine-rich repeat transmembrane neuronal protein 3 (sprot)

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


SNX30_HUMAN Sorting nexin-30 (sprot)

A sorting nexin-30 that is encoded in the genome of human.


name: DNAL1_HUMAN Dynein axonemal light chain 1 (sprot)

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


name: NUD10_HUMAN Diphosphoinositol polyphosphate phosphohydrolase 3-alpha (sprot)

description: A diphosphoinositol polyphosphate phosphohydrolase 3-alpha that is encoded in the genome of human.


Tendon xanthomatosis

description: The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).


name: ZBT7C_HUMAN Zinc finger and BTB domain-containing protein 7C (sprot)

description: A zinc finger and BTB domain-containing protein 7C that is encoded in the genome of human.


bufotenine

A tertiary amine that consists of N,N-dimethyltryptamine bearing an additional hydroxy substituent at position 5.


name: KRA32_HUMAN Keratin-associated protein 3-2 (sprot)

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


name: MXRA5_HUMAN Matrix-remodeling-associated protein 5 (sprot)

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


name: LEGL_HUMAN Galectin-related protein (sprot)

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


GRAH_HUMAN Granzyme H (sprot)

A granzyme H that is encoded in the genome of human.


Duodenal polyposis

description: Presence of multiple polyps in the duodenum.


paramyotonia congenita of Von Eulenburg

description: Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).


mycosis fungoides

description: Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.


name: THUM3_HUMAN tRNA (guanine(6)-N2)-methyltransferase THUMP3 (sprot)

description: A tRNA (guanine(6)-N2)-methyltransferase THUMP3 that is encoded in the genome of human.


CBLN4_HUMAN Cerebellin-4 (sprot)

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


name: LBP_HUMAN Lipopolysaccharide-binding protein (sprot)

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


name: ZDH20_HUMAN Palmitoyltransferase ZDHHC20 (sprot)

description: A palmitoyltransferase ZDHHC20 that is encoded in the genome of human.


SYT15_HUMAN Synaptotagmin-15 (sprot)

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


name: 1433T_HUMAN 14-3-3 protein theta (sprot)

description: A 14-3-3 protein theta that is encoded in the genome of human.


BENFOTIAMINE

A thioester that is a synthetic analogue of thiamine obtained by acylative cleavage of the thiazole ring and O-phospohorylation.


OLODATEROL HYDROCHLORIDE

A hydrochloride obtained by combining olodaterol with one equivalent of hydrochloric acid. Used for long-term treatment of airflow obstruction in patients with chronic obstructive pulmonary disease including chronic bronchitis and/or emphysema.


squamous carcinoma in situ

description: A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.


CATW_HUMAN Cathepsin W (sprot)

A cathepsin W that is encoded in the genome of human.


capsidiol

An eremophilane sesquiterpenoid that is (+)-5-epi-aristolochene bearing additional 1beta- and 3alpha-hydroxy substituents. It is a phytoalexin produced in Nicotiana and Capsicum plant species in response to pathogen attack.


name: DAPL1_HUMAN Death-associated protein-like 1 (sprot)

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


name: SLIK3_HUMAN SLIT and NTRK-like protein 3 (sprot)

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


name: CGB3_HUMAN Choriogonadotropin subunit beta 3 (sprot)

description: A choriogonadotropin subunit beta that is a translation product of any of the following genes in human: CGB3/CGB5/CGB8.


Anterior blepharitis

description: A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.


Perifollicular erythema

description: Redness surrounding the hair follicles.


Ehrlich tumor carcinoma

description: A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.


skin carcinoma in situ

description: A in situ carcinoma that involves the zone of skin.


N-acetyl-D-glucosamine

The D isomer of N-acetylglucosamine.


name: NBL1_HUMAN Neuroblastoma suppressor of tumorigenicity 1 (sprot)

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


name: XPP2_HUMAN Xaa-Pro aminopeptidase 2 (sprot)

description: An Xaa-Pro aminopeptidase 2 that is encoded in the genome of human.


name: DZI1L_HUMAN Cilium assembly protein DZIP1L (sprot)

description: A cilium assembly protein DZIP1L that is encoded in the genome of human.


name: UBP2L_HUMAN Ubiquitin-associated protein 2-like (sprot)

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


granular cell cancer

description: An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.


suxibuzone

A pyrazolidine that is phenylbutazone which is substituted by a 3-carboxypropanoylmethyl group at the 4-position. Suxibuzone is a prodrug for phenylbutazone and is commonly used as an anti-inflammatory drug in horses.


J wave

description: The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.


name: AT11C_HUMAN Phospholipid-transporting ATPase IG (sprot)

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


name: STAR6_HUMAN StAR-related lipid transfer protein 6 (sprot)

description: A StAR-related lipid transfer protein 6 that is encoded in the genome of human.


Marshall syndrome

description: Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.


name: KLH21_HUMAN Kelch-like protein 21 (sprot)

description: A kelch-like protein 21 that is encoded in the genome of human.


Facial hypertrichosis

description: Excessive, increased hair growth located in the facial region.


LA_HUMAN Lupus La protein (sprot)

A lupus La protein that is encoded in the genome of human.


inflammatory bowel disease 10

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.


vibratory urticaria

description: This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.


African swine fever

description: A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).


name: T170A_HUMAN Transmembrane protein 170A (sprot)

description: A transmembrane protein 170A that is encoded in the genome of human.


name: progressive familial intrahepatic cholestasis type 1

description: PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.


orthostatic hypotension 1

description: A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


Disproportionate short stature

description: A kind of short stature in which different regions of the body are shortened to differing extents.


reticular dysgenesis

description: Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.


name: PKHA7_HUMAN Pleckstrin homology domain-containing family A member 7 (sprot)

description: A pleckstrin homology domain-containing family A member 7 that is encoded in the genome of human.


prostate angiosarcoma

description: A malignant vascular neoplasm arising from the prostate.


villous adenoma

description: An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.


acquired factor VII deficiency

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


factor XI deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


aldehydo-N-acetyl-D-mannosamine

An N-acetylmannosamine in open-chain aldehyde form with D-configuration.