name: UCK1_HUMAN Uridine-cytidine kinase 1 (sprot)

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


disorder of pilosebaceous unit

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

description: A disease that involves the pilosebaceous unit.


name: PAQRB_HUMAN Monocyte to macrophage differentiation factor (sprot)

description: A monocyte to macrophage differentiation protein that is encoded in the genome of human.


histoplasmosis

description: A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.


fatty acid ethyl ester

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


name: CSTF3_HUMAN Cleavage stimulation factor subunit 3 (sprot)

description: A cleavage stimulation factor subunit 3 that is encoded in the genome of human.


intestinal helminthiasis

description: A parasitic helminthiasis infectious disease that involves the intestine.


name: MGT5B_HUMAN Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B (sprot)

description: An alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B that is encoded in the genome of human.


name: MAP1S_HUMAN Microtubule-associated protein 1S (sprot)

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


PYY_HUMAN Peptide YY (sprot)

A peptide YY that is encoded in the genome of human.


name: G6B_HUMAN Megakaryocyte and platelet inhibitory receptor G6b (sprot)

description: A megakaryocyte and platelet inhibitory receptor G6b that is encoded in the genome of human.


name: C2CD3_HUMAN C2 domain-containing protein 3 (sprot)

description: A C2 domain-containing protein 3 that is encoded in the genome of human.


name: non-classic congenital adrenal hyperplasia

description: A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.


inclusion conjunctivitis

description: Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.


NOGG_HUMAN Noggin (sprot)

A noggin that is encoded in the genome of human.


name: ULK4_HUMAN Serine/threonine-protein kinase ULK4 (sprot)

description: A serine/threonine-protein kinase ULK4 that is encoded in the genome of human.


ductal eccrine adenocarcinoma

description: A very rare eccrine adenocarcinoma characterized by the presence of prominent ductal differentiation.


Acute respiratory distress syndrome

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

description: Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.


Bronchial atresia

description: A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.


name: SP30L_HUMAN Histone deacetylase complex subunit SAP30L (sprot)

description: A histone deacetylase complex subunit SAP30L that is encoded in the genome of human.


name: progeroid features-hepatocellular carcinoma predisposition syndrome


bladder benign neoplasm

description: A benign abnormal growth of the cells that comprise the bladder.


Eagle syndrome

description: Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.


name: methylmalonic aciduria and homocystinuria type cblC

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.


name: TPC6A_HUMAN Trafficking protein particle complex subunit 6A (sprot)

description: A trafficking protein particle complex subunit 6A that is encoded in the genome of human.


Cernunnos-XLF deficiency

description: Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.


name: SIA7C_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (sprot)

description: An alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 that is encoded in the genome of human.


name: TM86B_HUMAN Lysoplasmalogenase TMEM86B (sprot)

description: A lysoplasmalogenase TMEM86B that is encoded in the genome of human.


BENZOIC ACID VINYL ESTER

An  enoate ester obtained by the formal condensation of the carboxy group of benzoic acid with ethenol. Metabolite observed in cancer metabolism.


Pthirus pubis infestation

description: Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.


glutaminase deficiency

description: Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.


name: HS12A_HUMAN Heat shock 70 kDa protein 12A (sprot)

description: A heat shock 70 kDa protein 12A that is encoded in the genome of human.


name: ARMX4_HUMAN Armadillo repeat-containing X-linked protein 4 (sprot)

description: An armadillo repeat-containing X-linked protein 4 that is encoded in the genome of human.


name: UBXN8_HUMAN UBX domain-containing protein 8 (sprot)

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


BFSP1_HUMAN Filensin (sprot)

A filensin that is encoded in the genome of human.


ISOORIENTIN

A flavone C-glycoside consisting of luteolin having a beta-D-glucosyl residue at the 6-position.


spinocerebellar ataxia type 17

description: A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.


name: PUF60_HUMAN Poly(U)-binding-splicing factor PUF60 (sprot)

description: A poly(U)-binding-splicing factor PUF60 that is encoded in the genome of human.


PENTANE

A straight chain alkane consisting of 5 carbon atoms.


progressive external ophthalmoplegia

description: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)


Jeune syndrome

description: Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.


ASTRA_HUMAN Protein Aster-A (sprot)

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


colonic pseudo-obstruction

description: Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.


name: LRC47_HUMAN Leucine-rich repeat-containing protein 47 (sprot)

description: A leucine-rich repeat-containing protein 47 that is encoded in the genome of human.


name: ACBG2_HUMAN Long-chain-fatty-acid--CoA ligase ACSBG2 (sprot)

description: A long-chain-fatty-acid--CoA ligase ACSBG2 that is encoded in the genome of human.


spleen neoplasm

description: A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.


Cephalohematoma

description: Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.


aromatase excess syndrome

description: Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.


name: PED1B_HUMAN PC-esterase domain-containing protein 1B (sprot)

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


name: HAUS7_HUMAN HAUS augmin-like complex subunit 7 (sprot)

description: A HAUS augmin-like complex subunit 7 that is encoded in the genome of human.


description: Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.


Portal fibrosis

description: Fibroblast proliferation and fiber expansion from the portal areas to the lobule.


chondromalacia patellae

description: Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.


Poland syndrome

description: Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.


name: TMM47_HUMAN Transmembrane protein 47 (sprot)

description: A transmembrane protein 47 that is encoded in the genome of human.


nervous system neoplasm

description: A neoplasm (disease) that involves the nervous system.


spitzoid melanoma

description: A junctional or compound melanocytic neoplasm not fulfilling the histopathologic criteria of melanoma but with one of the following features: asymmetry, predominance of single melanocytes over nests in lesions 4 mm or larger, ulceration, large dermal sheets of melanocytes, lack of maturation in dermis, deep dermal mitotic figures, extensive involvement of subcutis, and nuclear pleomorphism. (Mod Pathol 2006;19: S21)


ganglioneuroma

description: A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.


name: GRTP1_HUMAN Growth hormone-regulated TBC protein 1 (sprot)

description: A growth hormone-regulated TBC protein 1 that is encoded in the genome of human.


name: ZFAN1_HUMAN AN1-type zinc finger protein 1 (sprot)

description: An AN1-type zinc finger protein 1 that is encoded in the genome of human.


tixocortol

A steroid sulfide in which the sulfanyl group is at C-21 of a polyoxygenated derivative of pregn-4-ene.


name: PTHD3_HUMAN Patched domain-containing protein 3 (sprot)

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


rheumatoid lung disease

description: Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.


name: AMD_HUMAN Peptidyl-glycine alpha-amidating monooxygenase (sprot)

description: A peptidyl-glycine alpha-amidating monooxygenase that is encoded in the genome of human.


name: ZXDC_HUMAN Zinc finger protein ZXDC (sprot)

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


IL17C_HUMAN Interleukin-17C (sprot)

An interleukin-17C that is encoded in the genome of human.


name: PA24E_HUMAN Cytosolic phospholipase A2 epsilon (sprot)

description: A cytosolic phospholipase A2 epsilon that is encoded in the genome of human.


name: RN183_HUMAN E3 ubiquitin-protein ligase RNF183 (sprot)

description: An E3 ubiquitin-protein ligase RNF183 that is encoded in the genome of human.


spastic ataxia 5

description: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.


chicken lymphoma

description: Lymphoma that occurs in a chicken.


FA20A_HUMAN Pseudokinase FAM20A (sprot)

A pseudokinase FAM20A that is encoded in the genome of human.


non-herpetic acute limbic encephalitis

description: Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.


A non-proteinogenic L-amino acid that is N-acetyl-alpha-D-galactosamine linked via an alpha glycosidic bond to the O at position 3 of L-serine.


CHOLINE C-11

A quaternary ammonium salt that is the chloride salt of (11)C-choline. An intravenous radioactive diagnostic agent used as a tracer during positron emission tomography scans to help detect sites of recurrent prostate cancer.


name: SBNO1_HUMAN Protein strawberry notch homolog 1 (sprot)

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


name: RBM41_HUMAN RNA-binding protein 41 (sprot)

description: An RNA-binding protein 41 that is encoded in the genome of human.


CD7_HUMAN T-cell antigen CD7 (sprot)

A CD7 molecule that is encoded in the genome of human.


name: SREC2_HUMAN Scavenger receptor class F member 2 (sprot)

description: A scavenger receptor class F member 2 that is encoded in the genome of human.


GINSENOSIDE RG2

A ginsenoside found in Panax species that is dammarane which is substituted by hydroxy groups at the 3beta, 6alpha, 12beta and 20 pro-S positions, in which the hydroxy group at position 6 has been converted to the corresponding alpha-L-rhamnopyranosyl-(1->2)-beta-D-glucopyranoside, and in which a double bond has been introduced at the 24-25 position.


name: LV208_HUMAN Immunoglobulin lambda variable 2-8 (sprot)

description: A protein that is a translation product of the IGLV2-8 gene in human.


atypical juvenile parkinsonism

description: Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.


hypertrophic cardiomyopathy 20

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


name: CI037_HUMAN Uncharacterized protein ARRDC1-AS1 (sprot)

description: A protein that is a translation product of the ARRDC1-AS1 gene in human.


name: CRNL1_HUMAN Crooked neck-like protein 1 (sprot)

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


tannin

Any of a group of astringent polyphenolic vegetable principles or compounds, chiefly complex glucosides of catechol and pyrogallol.


name: ALKB6_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 (sprot)

description: An alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 that is encoded in the genome of human.


name: PP1R7_HUMAN Protein phosphatase 1 regulatory subunit 7 (sprot)

description: A protein phosphatase 1 regulatory subunit 7 that is encoded in the genome of human.


Alzheimer disease 17

description: An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.


excessive tearing

description: Profuse lacrimation.


paranasal sinus cancer

description: A primary or metastatic malignant neoplasm involving the paranasal sinuses.


name: myeloid leukemia associated with down syndrome

description: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.


description: Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.


name: CRUM1_HUMAN Protein crumbs homolog 1 (sprot)

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


CROCC_HUMAN Rootletin (sprot)

A rootletin that is encoded in the genome of human.


name: KRA99_HUMAN Keratin-associated protein 9-9 (sprot)

description: A keratin-associated protein 9-9 that is encoded in the genome of human.


name: CRIPT_HUMAN Cysteine-rich PDZ-binding protein (sprot)

description: A cysteine-rich PDZ-binding protein that is encoded in the genome of human.


hypochondroplasia

description: Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


name: S38A7_HUMAN Sodium-coupled neutral amino acid transporter 7 (sprot)

description: A sodium-coupled neutral amino acid transporter 7 that is encoded in the genome of human.


name: KLD7B_HUMAN Kelch domain-containing protein 7B (sprot)

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


name: CTCFL_HUMAN Transcriptional repressor CTCFL (sprot)

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


name: chronic thromboembolic pulmonary hypertension

description: Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.


ascending colon cancer

description: A malignant neoplasm involving the ascending colon.


name: SPT19_HUMAN Spermatogenesis-associated protein 19, mitochondrial (sprot)

description: A spermatogenesis-associated protein 19, mitochondrial that is encoded in the genome of human.


malignant Leydig cell tumor

description: A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.


bone squamous cell carcinoma

description: A squamous cell carcinoma that involves the bone tissue.


Hypocalcemic tetany

description: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.


name: ABC3H_HUMAN DNA dC->dU-editing enzyme APOBEC-3H (sprot)

description: A DNA dC->dU-editing enzyme APOBEC-3H that is encoded in the genome of human.


name: CCG3_HUMAN Voltage-dependent calcium channel gamma-3 subunit (sprot)

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


LSM12_HUMAN Protein LSM12 (sprot)

A protein LSM12 that is encoded in the genome of human.


neutrophil actin dysfunction

description: Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.


peripheral hypothyroidism

description: Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.


name: ATGA1_HUMAN Autophagy-related protein 101 (sprot)

description: An autophagy-related protein 101 that is encoded in the genome of human.


TPRN_HUMAN Taperin (sprot)

A taperin that is encoded in the genome of human.


name: GRCR1_HUMAN Glutaredoxin domain-containing cysteine-rich protein 1 (sprot)

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


name: CO8A2_HUMAN Collagen alpha-2(VIII) chain (sprot)

description: A collagen alpha-2(VIII) chain that is encoded in the genome of human.


name: DGKD_HUMAN Diacylglycerol kinase delta (sprot)

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


TBE_HUMAN Tubulin epsilon chain (sprot)

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


name: NXF2_HUMAN Nuclear RNA export factor 2 (sprot)

description: A nuclear RNA export factor 2 that is encoded in the genome of human.


corticorelin ovine

A corticotropin-releasing hormone from sheep composed of Ser, Gln, Glu, Pro, Pro, Ile, Ser, Leu, Asp, Leu, Val, Phe, His, Leu, Leu, Arg, Glu, Val, Leu, Glu, Met, Thr, Lys, Ala, Asp, Gln, Leu, Ala, Gln, Gln, Ala, His, Ser, Asn, Arg, Lys, Leu, Leu, Asp, Ile and Ala-NH2 residues joined in sequence.


gonosome anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.


Uninodular goiter

description: Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.


name: SDCG8_HUMAN Serologically defined colon cancer antigen 8 (sprot)

description: A serologically defined colon cancer antigen 8 that is encoded in the genome of human.


name: ABLM3_HUMAN Actin-binding LIM protein 3 (sprot)

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


F167A_HUMAN Protein FAM167A (sprot)

A protein FAM167A that is encoded in the genome of human.


FENFLURAMINE HYDROCHLORIDE

The hydrochloride salt of fenfluramine. It binds to the serotonin reuptake pump, causing inhbition of serotonin uptake and release of serotonin. The resulting increased levels of serotonin lead to greater serotonin receptor activation which in turn lead to enhancement of serotoninergic transmission in the centres of feeding behavior located in the hypothalamus. This suppresses the appetite for carbohydrates. Fenfluramine hydrochloride was used for treatment of diabetes and obesity. It was withdrawn worldwide after reports of heart valve disease and pulmonary hypertension.


xanthinuria

description: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


name: GILT_HUMAN Gamma-interferon-inducible lysosomal thiol reductase (sprot)

description: A gamma-interferon-inducible lysosomal thiol reductase that is encoded in the genome of human.


name: LIGO3_HUMAN Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 (sprot)

description: A leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 that is encoded in the genome of human.


eyelid neoplasm

description: A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.


glutathionylspermidine

The spermidine amide of glutathione.


TERPHENYLLIN

A para-terphenyl that is 1,1':4',1''-terphenyl substituted by methoxy groups at positions 3' and 6' and hydroxy groups at positions 2', 4 and 4''. It has been isolated from Aspergillus taichungensis.


anaplastic ganglioglioma

description: A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)


name: PCDB9_HUMAN Protocadherin beta-9 (sprot)

description: A protocadherin beta-9 that is encoded in the genome of human.


name: 2A5D_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (sprot)

description: A serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform that is encoded in the genome of human.


N-methylparoxetine

A member of the class of benzodioxoles that is paroxetine in which the piperidine hydrogen is substituted by a methyl group. It is a drug impurity of the antidepressant, paroxetine.


name: S41A3_HUMAN Solute carrier family 41 member 3 (sprot)

description: A solute carrier family 41 member 3 that is encoded in the genome of human.


name: O2T11_HUMAN Olfactory receptor 2T11 (sprot)

description: An olfactory receptor 2T11 that is encoded in the genome of human.


name: GARL3_HUMAN GTPase-activating Rap/Ran-GAP domain-like protein 3 (sprot)

description: A GTPase-activating Rap/Ran-GAP domain-like protein 3 that is encoded in the genome of human.


name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

description: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.


name: MAGC1_HUMAN Melanoma-associated antigen C1 (sprot)

description: A melanoma-associated antigen C1 that is encoded in the genome of human.


congenital arteriovenous fistula

description: An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.


name: PAQR6_HUMAN Membrane progestin receptor delta (sprot)

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


pericytic neoplasm

description: A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.


name: SIA7A_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (sprot)

description: An alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 that is encoded in the genome of human.


name: TMM9B_HUMAN Transmembrane protein 9B (sprot)

description: A transmembrane protein 9B that is encoded in the genome of human.


name: growth hormone-producing pituitary gland adenoma

description: An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.


Cornea verticillata

description: Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.


name: PI4KA_HUMAN Phosphatidylinositol 4-kinase alpha (sprot)

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


name: OFUT2_HUMAN GDP-fucose protein O-fucosyltransferase 2 (sprot)

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


name: LSM5_HUMAN U6 snRNA-associated Sm-like protein LSm5 (sprot)

description: A U6 snRNA-associated Sm-like protein LSm5 that is encoded in the genome of human.


nitarsone

An organoarsonic acid where the organyl group is 4-nitrophenyl.


Drug-induced agranulocytosis

description: A type of agranulocytosis related to ingestion of a specific medication.


HAEMATOXYLIN

An organic heterotetracyclic compound 7,11b-dihydroindeno[2,1-c]chromene carrying five hydroxy substituents at positions 3, 4, 6a, 9 and 10. The most important and most used dye in histology, histochemistry, histopathology and in cytology.


5-AMINOVALERIC ACID

A delta-amino acid comprising pentanoic acid with an amino substituent at C-5; a methylene homologue of gamma-aminobutyric acid (GABA) that is a weak GABA agonist.


name: VAX2_HUMAN Ventral anterior homeobox 2 (sprot)

description: A ventral anterior homeobox 2 that is encoded in the genome of human.


CDKL5 disorder

description: A monogenic disease that has material basis in mutation in the CDKL5 gene.


lysophosphatidylglycerol (O-34:4/0:0)

A 1-alkyl-sn-glycero-3-phosphoglycerol in which the alkyl group contains 34 carbons and 4 double bonds.


name: RN19B_HUMAN E3 ubiquitin-protein ligase RNF19B (sprot)

description: An E3 ubiquitin-protein ligase RNF19B that is encoded in the genome of human.


HSD10 mitochondrial disease

description: A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


peroxisome biogenesis disorder

description: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


undifferentiated carcinoma of stomach

description: A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.


Perrault syndrome

description: Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.


name: UTP18_HUMAN U3 small nucleolar RNA-associated protein 18 homolog (sprot)

description: A U3 small nucleolar RNA-associated protein 18 that is encoded in the genome of human.


CO5_HUMAN Complement C5 (sprot)

A complement C5 that is encoded in the genome of human.


name: NARF_HUMAN Nuclear prelamin A recognition factor (sprot)

description: A nuclear prelamin A recognition factor that is encoded in the genome of human.


name: INP4A_HUMAN Inositol polyphosphate-4-phosphatase type I A (sprot)

description: An inositol polyphosphate-4-phosphatase type I A that is encoded in the genome of human.


ATMIN_HUMAN ATM interactor (sprot)

An ATM interactor that is encoded in the genome of human.


PROPAFENONE HYDROCHLORIDE

A hydrochloride that is the monohydrochloride salt of propafenone. It is a class 1C antiarrhythmic drug with local anesthetic effects, and is used in the management of supraventricular and ventricular arrhythmias.


name: ASB17_HUMAN Ankyrin repeat and SOCS box protein 17 (sprot)

description: An ankyrin repeat and SOCS box protein 17 that is encoded in the genome of human.


name: ARL16_HUMAN ADP-ribosylation factor-like protein 16 (sprot)

description: An ADP-ribosylation factor-like protein 16 that is encoded in the genome of human.


name: GP143_HUMAN G-protein coupled receptor 143 (sprot)

description: A G-protein coupled receptor 143 that is encoded in the genome of human.


metanephric adenoma

description: A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.


name: ANR17_HUMAN Ankyrin repeat domain-containing protein 17 (sprot)

description: An ankyrin repeat domain-containing protein 17 that is encoded in the genome of human.


corneal intraepithelial neoplasm

description: A squamous cell intraepithelial neoplasia that involves the cornea.


N-acetyl-D-mannosamine

An N-acetylmannosamine having D-configuration.


name: MOT9_HUMAN Monocarboxylate transporter 9 (sprot)

description: A monocarboxylate transporter 9 that is encoded in the genome of human.


name: Rab GTPase-activating protein 1-like, isoform 10 (human)

description: A Rab GTPase-activating protein 1-like isoform 10 that is encoded in the genome of human.


name: HDGR3_HUMAN Hepatoma-derived growth factor-related protein 3 (sprot)

description: A hepatoma-derived growth factor-related protein 3 that is encoded in the genome of human.


GANODEROL B

A tetracyclic triterpenoid that is lanosta-7,9(11),24-triene which is substituted by hydroxy groups at positions 3 and 27. It has been isolated from several Ganoderma species.


name: FA2H_HUMAN Fatty acid 2-hydroxylase (sprot)

description: A fatty acid 2-hydroxylase that is encoded in the genome of human.


name: THAP2_HUMAN THAP domain-containing protein 2 (sprot)

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


DACLATASVIR DIHYDROCHLORIDE

A hydrochloride obtained by combining daclatasvir with two molar equivalents of hydrochloric acid. It is a potent inhibitor of nonstructural protein 5A and is used for treatment of hepatitis C.


name: Decreased circulating ceruloplasmin concentration

description: Decreased concentration of ceruloplasmin in the blood.


Infantile encephalopathy

description: Encephalopathy with onset in the infantile period.


Atypical absence seizure

description: An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.


BOLA2_HUMAN BolA-like protein 2 (sprot)

A BolA-like protein 2 that is encoded in the genome of human.


name: UCMA_HUMAN Unique cartilage matrix-associated protein (sprot)

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


Alice in Wonderland syndrome

description: A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.


name: aldosterone-producing adrenal cortex adenoma

description: An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness.


EDROPHONIUM CHLORIDE

The chloride salt of edrophonium. A reversible inhibitor of cholinesterase with a rapid onset (30-60 seconds after injection) but a short duration of action (5-15 minutes), it is used in myasthenia gravis both diagnostically and to distinguish between under- or over-treatment with other anticholinesterases. It has also been used for the reversal of neuromuscular blockade in anaesthesia, and for the management of poisoning due to tetrodotoxin, a neuromuscular blocking toxin found in puffer fish and other marine animals.


name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


intrinsic cardiomyopathy

description: A cardiomyopathy that is due to abnormalities in heart muscle cells.


name: ZFP3_HUMAN Zinc finger protein 3 homolog (sprot)

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


name: PIGG_HUMAN GPI ethanolamine phosphate transferase 2 (sprot)

description: A GPI ethanolamine phosphate transferase 2 that is encoded in the genome of human.


toloxatone

A racemate consisting of equimolar amounts of (R)- and (S)-toloxatone. It is a reversible monoamine oxidase A inhibitor and antidepressant.


name: ovarian endometrioid adenocarcinoma with squamous differentiation

description: An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.


sermorelin

A 29 amino acid polypeptide that is used to treat growth problems (usually in children) due to growth hormone deficiency. It is the biologically active fragment of human growth hormone-releasing factor (GHRH).


name: GHRHR_HUMAN Growth hormone-releasing hormone receptor (sprot)

description: A growth hormone-releasing hormone receptor that is encoded in the genome of human.


D-erythrose 4-phosphate

An erythrose phosphate that is D-erythrose carrying a phosphate group at position 4. It is an intermediate in the pentose phosphate pathway and Calvin cycle.


familial hypocalciuric hypercalcemia 1

description: Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.


TILORONE HYDROCHLORIDE

The dihydrochloride salt of tilorone. It is used as an antiviral drug to treat influenza, herpes infection, viral hepatitis, acute respiratory viral infections and SARS.


submandibular gland cancer

description: A malignant neoplasm involving the submandibular gland.


Perianal dermatitis

description: The presence of a rash (change of color and texture) of the perianal skin.


Homocitrullinuria

description: An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.


early-onset non-syndromic cataract

description: Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.


name: TTL_HUMAN Tubulin--tyrosine ligase (sprot)

description: A tubulin--tyrosine ligase that is encoded in the genome of human.


A secondary carboxamide resulting from the formal condensation of the carboxy group of 4-[(4-ethylpiperazin-1-yl)methyl]-3-(trifluoromethyl)benzoic acid with the amino group of 5-(5-amino-2-methylphenoxy)-1,3-dihydro-2H-indol-2-one. It is a potent inhibitor of discoidin domain receptor tyrosine kinase 1 and 2 (DDR1/2) with IC50 = 105 nM and 413 nM, respectively.


iris disorder

description: A disease involving the iris.


ERLN1_HUMAN Erlin-1 (sprot)

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


name: ABLM2_HUMAN Actin-binding LIM protein 2 (sprot)

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


major salivary gland carcinoma

description: A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.


name: AIF1L_HUMAN Allograft inflammatory factor 1-like (sprot)

description: An allograft inflammatory factor 1-like that is encoded in the genome of human.


name: RPC7_HUMAN DNA-directed RNA polymerase III subunit RPC7 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC7 that is encoded in the genome of human.


name: K1C24_HUMAN Keratin, type I cytoskeletal 24 (sprot)

description: A keratin, type I cytoskeletal 24 that is encoded in the genome of human.


name: NAA60_HUMAN N-alpha-acetyltransferase 60 (sprot)

description: An N-alpha-acetyltransferase 60 that is encoded in the genome of human.


name: RN103_HUMAN E3 ubiquitin-protein ligase RNF103 (sprot)

description: An E3 ubiquitin-protein ligase RNF103 that is encoded in the genome of human.


name: GBGT2_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 that is encoded in the genome of human.


name: JKAMP_HUMAN JNK1/MAPK8-associated membrane protein (sprot)

description: A JNK1/MAPK8-associated membrane protein that is encoded in the genome of human.


name: GTR14_HUMAN Solute carrier family 2, facilitated glucose transporter member 14 (sprot)

description: A solute carrier family 2, facilitated glucose transporter member 14 that is encoded in the genome of human.


name: RN168_HUMAN E3 ubiquitin-protein ligase RNF168 (sprot)

description: An E3 ubiquitin-protein ligase RNF168 that is encoded in the genome of human.


Spherocytosis

description: The presence of erythrocytes that are sphere-shaped.


protein-losing enteropathy

description: Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.


mediastinal malignant lymphoma

description: A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.


PALM_HUMAN Paralemmin-1 (sprot)

A paralemmin that is encoded in the genome of human.


name: MDFIC_HUMAN MyoD family inhibitor domain-containing protein (sprot)

description: A MyoD family inhibitor domain-containing protein that is encoded in the genome of human.


Sleep onset insomnia

description: Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.


Agalactia

description: Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.


Hypoplasia of the maxilla

description: Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.


mevalonolactone

A racemate comprising equimolar amounts of (R)-mevalonolactone and (S)-mevalonolactone.


WHRN_HUMAN Whirlin (sprot)

A whirlin that is encoded in the genome of human.


childhood astrocytic tumor

description: An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.


name: GPC5D_HUMAN G-protein coupled receptor family C group 5 member D (sprot)

description: A G-protein coupled receptor family C group 5 member D that is encoded in the genome of human.


NANAFROCIN

A pyranonaphthoquinone antibiotic from strain OS-3966 of Streptomyces rosa var. notoensis.


H18_HUMAN Histone H1.8 (sprot)

A histone H1.8 that is encoded in the genome of human.


name: KANL2_HUMAN KAT8 regulatory NSL complex subunit 2 (sprot)

description: A KAT8 regulatory NSL complex subunit 2 that is encoded in the genome of human.


autosomal dominant disease

description: Autosomal dominant form of disease.


name: 1433E_HUMAN 14-3-3 protein epsilon (sprot)

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


name: DPP10_HUMAN Inactive dipeptidyl peptidase 10 (sprot)

description: An inactive dipeptidyl peptidase 10 that is encoded in the genome of human.


manic bipolar affective disorder

description: The manic phase of bipolar disorder.


description: STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.


tracheal adenoid cystic carcinoma

description: An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.


basaloid carcinoma

description: A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.


name: SCRIB_HUMAN Protein scribble homolog (sprot)

description: A protein LAP4 that is encoded in the genome of human.


name: CALL6_HUMAN Calmodulin-like protein 6 (sprot)

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


name: LRAD4_HUMAN Low-density lipoprotein receptor class A domain-containing protein 4 (sprot)

description: A low-density lipoprotein receptor class A domain-containing protein 4 that is encoded in the genome of human.


name: RM03_HUMAN Large ribosomal subunit protein uL3m (sprot)

description: A large ribosomal subunit protein uL3m that is encoded in the genome of human.


A monovalent inorganic anion obtained by deprotonation of hydroxyphosphanone.


name: ERI1_HUMAN 3'-5' exoribonuclease 1 (sprot)

description: A 3'-5' exoribonuclease 1 that is encoded in the genome of human.


ghosal hematodiaphyseal dysplasia

description: Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.


Muir-Torre syndrome

description: Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.


name: EI2BB_HUMAN Translation initiation factor eIF2B subunit beta (sprot)

description: A translation initiation factor eIF2B subunit beta that is encoded in the genome of human.


Hypothalamic gliosis

description: Focal proliferation of glial cells in the hypothalamus.


TSK_HUMAN Tsukushi (sprot)

A tsukushi that is encoded in the genome of human.


mesothelial neoplasm

description: A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003


congenital contractural arachnodactyly

description: Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.


ecthyma

description: An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)


secobarbital

A member of the class of  barbiturates that is barbituric acid in which the hydrogens at position 5 are substituted by prop-2-en-1-yl and pentan-2-yl groups.


name: SIG11_HUMAN Sialic acid-binding Ig-like lectin 11 (sprot)

description: A sialic acid-binding Ig-like lectin 11 that is encoded in the genome of human.


name: M3K20_HUMAN Mitogen-activated protein kinase kinase kinase 20 (sprot)

description: A mitogen-activated protein kinase kinase kinase 20 that is encoded in the genome of human.


rectum malignant melanoma

description: An aggressive malignant melanocytic neoplasm that arises from the rectum.


antimony trichloride

An inorganic chloride salt with formula SbCl3. It is used as a reagent for detecting vitamin A and related carotenoids, reacting with the carotenoid to form a blue complex that can be measured by colorimetry (the Carr-Price test). Solutions of antimony trichloride were formerly used for dissolving and removing horn stubs from calves and goats.


name: TAF4B_HUMAN Transcription initiation factor TFIID subunit 4B (sprot)

description: A transcription initiation factor TFIID subunit 4B that is encoded in the genome of human.


phenazopyridine hydrochloride

A hydrochloride obtained by combining phenazopyridine with one equivalent of hydrochloric acid. A local anesthetic that has topical analgesic effect on mucosa lining of the urinary tract. Its use is limited by problems with toxicity (primarily blood disorders) and potential carcinogenicity.


name: SAP25_HUMAN Histone deacetylase complex subunit SAP25 (sprot)

description: A histone deacetylase complex subunit SAP25 that is encoded in the genome of human.


name: SPRTN_HUMAN DNA-dependent metalloprotease SPRTN (sprot)

description: A DNA-dependent metalloprotease SPRTN that is encoded in the genome of human.


name: S39AD_HUMAN Zinc transporter ZIP13 (sprot)

description: A zinc transporter ZIP13 that is encoded in the genome of human.


name: METL6_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL6 (sprot)

description: A tRNA N(3)-methylcytidine methyltransferase METTL6 that is encoded in the genome of human.


ferrous sulfate

A compound of iron and sulfate in which the ratio of iron(2+) to sulfate ions is 1:1. Various hydrates occur naturally - most commonly the heptahydrate, which loses water to form the tetrahydrate at 57degreeC and the monohydrate at 65degreeC.


name: THNS2_HUMAN Threonine synthase-like 2 (sprot)

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


name: SPSB3_HUMAN SPRY domain-containing SOCS box protein 3 (sprot)

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


name: ENPP4_HUMAN Bis(5'-adenosyl)-triphosphatase ENPP4 (sprot)

description: A bis(5'-adenosyl)-triphosphatase ENPP4 that is encoded in the genome of human.


nocardiosis

description: Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.


name: S35B1_HUMAN Solute carrier family 35 member B1 (sprot)

description: A solute carrier family 35 member B1 that is encoded in the genome of human.


name: GBG12_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 that is encoded in the genome of human.


High palate

description: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).


name: SPKAP_HUMAN A-kinase anchor protein SPHKAP (sprot)

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


name: ocular melanoma with extraocular extension

description: A melanoma arising from and extending beyond the structures of the eye.


name: PFKAL_HUMAN ATP-dependent 6-phosphofructokinase, liver type (sprot)

description: An ATP-dependent 6-phosphofructokinase, liver type that is encoded in the genome of human.


name: UBE2H_HUMAN Ubiquitin-conjugating enzyme E2 H (sprot)

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


cranioectodermal dysplasia

description: Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).


Plantar pits

description: The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.


name: TM39A_HUMAN Transmembrane protein 39A (sprot)

description: A transmembrane protein 39A that is encoded in the genome of human.


name: MIPT3_HUMAN TRAF3-interacting protein 1 (sprot)

description: A TRAF3-interacting protein 1 that is encoded in the genome of human.


name: SERF1_HUMAN Small EDRK-rich factor 1 (sprot)

description: A small EDRK-rich factor 1 that is encoded in the genome of human.


name: DRC5_HUMAN Dynein regulatory complex subunit 5 (sprot)

description: A dynein regulatory complex subunit 5 that is encoded in the genome of human.


F91A1_HUMAN Protein FAM91A1 (sprot)

A protein FAM91A1 that is encoded in the genome of human.


name: RTCB_HUMAN RNA-splicing ligase RtcB homolog (sprot)

description: An RNA-splicing ligase RtcB that is encoded in the genome of human.


congenital hemangioma

description: A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).


name: G2E3_HUMAN G2/M phase-specific E3 ubiquitin-protein ligase (sprot)

description: A G2/M phase-specific E3 ubiquitin-protein ligase that is encoded in the genome of human.


Recurrent sinusitis

description: A recurrent form of sinusitis.


Epistaxis

description: Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.


uterine corpus cancer

description: A malignant neoplasm involving the body of uterus.


2,4,5-trinitrobenzenesulfonic acid

An arenesulfonic acid that is benzene with a sulfo group at position 1 and three nitro substituents in the 2-, 4- and 5-positions.


name: PHKG1_HUMAN Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform (sprot)

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


Myelokathexis

description: Impaired egress of mature neutrophils from bone marrow causing neutropenia.


name: PPR35_HUMAN Protein phosphatase 1 regulatory subunit 35 (sprot)

description: A protein phosphatase 1 regulatory subunit 35 that is encoded in the genome of human.


Vasospasm

description: Narrowing of an artery due to constriction of the blood vessels.


name: SSX9_HUMAN Putative protein SSX9 (sprot)

description: A putative protein SSX9 that is encoded in the genome of human.


KAOLIN

An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products.


MTBP_HUMAN Mdm2-binding protein (sprot)

An Mdm2-binding protein that is encoded in the genome of human.


CDP-glycerol

A nucleotide-alditol having cytidine-5'-diphosphate and glycerol as the nucleotide and alditol components respectively.


posterior fossa ependymoma

description: A high grade ependymoma that is located within the posterior fossa.


chlormezanone

A 1,3-thiazine that is 1,3-thiazinan-4-one S,S-dioxide in which a hydrogen at position 2 is substituted by a 4-chlorophenyl group and the hydrogen attached to the nitrogen is substituted by methyl. A non-benzodiazepine muscle relaxant, it was used in the management of anxiety and in the treatment of muscle spasms until being discontinued worldwide by its manufacturer in 1996, due to rare but serious cutaneous reactions.


name: TCAL2_HUMAN Transcription elongation factor A protein-like 2 (sprot)

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


2,6-dihydroxybenzoic acid

A dihydroxybenzoic acid having the two hydroxy groups at the C-2 and C-6 positions.


Lujo hemorrhagic fever

description: Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.


name: CCD40_HUMAN Coiled-coil domain-containing protein 40 (sprot)

description: A coiled-coil domain-containing protein 40 that is encoded in the genome of human.


name: PRLHR_HUMAN Prolactin-releasing peptide receptor (sprot)

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


name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities


Axenfeld-Rieger syndrome

description: Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.


name: UMPS_HUMAN Uridine 5'-monophosphate synthase (sprot)

description: A uridine 5'-monophosphate synthase that is encoded in the genome of human.


blastomycosis

description: Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.


idiopathic acute eosinophilic pneumonia

description: Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.


osteogenesis imperfecta type 1

description: Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.


Congenital goiter

description: An enlargement of the thyroid gland with congenital onset.


pleural epithelioid mesothelioma

description: Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


bronchus cancer

description: A malignant neoplasm involving the bronchus


name: LCE1E_HUMAN Late cornified envelope protein 1E (sprot)

description: A late cornified envelope protein 1E that is encoded in the genome of human.


gonadoblastoma

description: A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.


dense deposit disease

description: Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.


TWF2_HUMAN Twinfilin-2 (sprot)

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


name: SLNL1_HUMAN Schlafen-like protein 1 (sprot)

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


DIFLOMOTECAN

An organic heteropentacyclic compound that is (5R)-8-[(6,7-difluoroquinolin-3-yl)methyl]-5-ethyl-5-hydroxy-1,4,5,8-tetrahydrooxepino[3,4-c]pyridine-3,9-dione in which position 7 of the oxepinopyridine moiety is joined to position 3 of the difluoroquinoine ring by a single bond. An E-ring modified camptothecin analogue that has greater lactone stability in plasma compared with other topoisomerase I inhibitors.


name: RFXK_HUMAN DNA-binding protein RFXANK (sprot)

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


name: CDR2L_HUMAN Cerebellar degeneration-related protein 2-like (sprot)

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


name: EF1D_HUMAN Elongation factor 1-delta (sprot)

description: An elongation factor 1-delta that is encoded in the genome of human.


name: HJURP_HUMAN Holliday junction recognition protein (sprot)

description: A Holliday junction recognition protein that is encoded in the genome of human.


Majocchi granuloma

description: An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.


name: autoinflammation with episodic fever and lymphadenopathy


MYP2_HUMAN Myelin P2 protein (sprot)

A myelin P2 protein that is encoded in the genome of human.


name: ACBD6_HUMAN Acyl-CoA-binding domain-containing protein 6 (sprot)

description: An acyl-CoA-binding domain-containing protein 6 that is encoded in the genome of human.


name: SYP2L_HUMAN Synaptopodin 2-like protein (sprot)

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


hyperlysinemia

description: Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.


photosensitivity disease

description: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.


LGMN_HUMAN Legumain (sprot)

A legumain that is encoded in the genome of human.


Pierson syndrome

description: Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.


histiocytoma

description: A mesenchymal tumor composed of fibroblastic and histiocytic cells.


IPO11_HUMAN Importin-11 (sprot)

An importin-11 that is encoded in the genome of human.


name: GPR62_HUMAN G-protein coupled receptor 62 (sprot)

description: A G-protein coupled receptor 62 that is encoded in the genome of human.


Diffuse hepatic steatosis

description: A diffuse form of hepatic steatosis.


spinal cord glioma

description: A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.


Alzheimer disease 14

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.


Generalized hypotrichosis

description: Reduced or lacking hair growth in a generalized distribution.


name: EFNMT_HUMAN eEF1A lysine and N-terminal methyltransferase (sprot)

description: An eEF1A lysine and N-terminal methyltransferase that is encoded in the genome of human.


prolactin deficiency, isolated

description: Subnormal concentration of prolactin.


UPK3A_HUMAN Uroplakin-3a (sprot)

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


description: A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.


Cardiac shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.


name: MOK_HUMAN MAPK/MAK/MRK overlapping kinase (sprot)

description: A MAPK/MAK/MRK overlapping kinase that is encoded in the genome of human.


heavy chain disease

description: Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.


paraldehyde

A trioxane that is 1,3,5-trioxane substituted by methyl groups at positions 2, 4 and 6.


name: ADCY4_HUMAN Adenylate cyclase type 4 (sprot)

description: An adenylate cyclase type 4 that is encoded in the genome of human.


SCEL_HUMAN Sciellin (sprot)

A sciellin that is encoded in the genome of human.


Pulmonary artery atresia

description: A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


Pfeiffer syndrome

description: Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


name: ATRN1_HUMAN Attractin-like protein 1 (sprot)

description: An attractin-like protein 1 that is encoded in the genome of human.


Cryptozoospermia

description: A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.


ferulic acid 4-sulfate

A member of the class of cinnamic acids that is ferulic acid in which the phenolic hydrogen has been replaced by a sulfo group.


name: H2B1K_HUMAN Histone H2B type 1-K (sprot)

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


acquired Creutzfeldt-Jakob disease

description: An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.


CANDICIDIN

A 38-membered ring lactone containing seven (E)-double bonds between positions 22 and 35 and substituted by hydroxy groups at positions 9, 11, 13, 17 and 19, oxo groups at positions 3, 7 and 15, a carboxy group at position 18, a 3-amino-3,6-dideoxymannopyranosyloxy group at position 21, a methyl group at position 36 and a 7-(4-aminophenyl)-5-hydroxy-4-methyl-7-oxoheptan-2-yl group at position 37. It is the major component of candicidin, a mixture of antifungal heptaene macrolides obtained from a strain of Streptomyces griseus.


Brain abscess

description: A collection of pus, immune cells, and other material in the brain.


myotonia permanens

description: Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).


pyrithiamine

A pyridinium ion that is 3-(2-hydroxyethyl)-2-methylpyridine substituted at position 1 by a (4-amino-2-methylpyrimidin-5-yl)methyl group.


name: WDFY4_HUMAN WD repeat- and FYVE domain-containing protein 4 (sprot)

description: A WD repeat- and FYVE domain-containing protein 4 that is encoded in the genome of human.


pericardial effusion

description: Fluid collection within the pericardial sac, usually due to inflammation.


name: R3GEF_HUMAN Guanine nucleotide exchange factor for Rab-3A (sprot)

description: A guanine nucleotide exchange factor for Rab-3A that is encoded in the genome of human.


ferulate

A monocarboxylic acid anion obtained by the deprotonation of the carboxy group of ferulic acid.


tetrodotoxin

A quinazoline alkaloid that is a marine toxin isolated from fish such as puffer fish. It has been shown to exhibit potential neutotoxicity due to its ability to block voltage-gated sodium channels.


5-methyltetrahydrofolic acid

A tetrahydrofolic acid that is 5,6,7,8-tetrahydrofolic acid substituted by a methyl group at position 5.


name: TCP11_HUMAN T-complex protein 11 homolog (sprot)

description: A T-complex protein 11 that is encoded in the genome of human.


poacic acid

A hydroxycinnamic acid that is (2E)-3-phenylprop-2-enoic acid in which the hydrogens at positions 3, 4 and 5 are replaced by 2-(4-hydroxy-3-methoxyphenyl)ethenyl, hydroxy and methoxy groups, respectively. It is a natural product found in maize bran which exhibits antifungal activities against several fungal and oomycete pathogens including Sclerotinia sclerotiorum, Alternaria solani, and Phytophthora sojae. It inhibits beta-1,3-glucan synthesis in cells walls resulting in rapid cell lysis.


dihydrobetulinic acid

A pentacyclic triterpenoid that is lupane having a 3beta-hydroxy and 28-carboxy substituents. Isolated from the leaves of Syzygium claviflorum, it exhibits anti-HIV and antileishmanial activity.


immune system cancer

description: A malignant neoplasm involving the immune system


name: TM10A_HUMAN tRNA methyltransferase 10 homolog A (sprot)

description: A tRNA methyltransferase 10 homolog A that is encoded in the genome of human.


name: MLP3C_HUMAN Microtubule-associated proteins 1A/1B light chain 3C (sprot)

description: A microtubule-associated proteins 1A/1B light chain 3C that is encoded in the genome of human.


episodic kinesigenic dyskinesia

description: Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.


ETHYLAMINE

A two-carbon primary aliphatic amine.


gallbladder squamous cell carcinoma

description: A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.


idiopathic panuveitis

description: Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.


paranasal sinus disorder

description: A disease involving the paranasal sinus.


PENTACHLORONITROBENZENE

A C-nitro compound that is nitrobenzene in which every hydrogen has been replaced by a chlorine. A fungicide used on a variety of crops, including cotton, rice and seed grains, it is no longer approved for use within the European Union.


tracheal cancer

description: A malignant neoplasm involving the trachea


dyskeratosis congenita, X-linked

description: X-linked form of dyskeratosis congenita.


brain oligodendroglioma

description: A oligodendroglioma that involves the brain.


name: CENPV_HUMAN Centromere protein V (sprot)

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


BROMOCHLOROACETIC ACID

A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is replaced by bromine while a second is replaced by chlorine. A low-melting (27.5-31.5degreeC), hygroscopic crystalline solid, it can be formed during the disinfection (by chlorination) of water that contains bromide ions and organic matter, so can occur in drinking water as a byproduct of the disinfection process.


Renal hypophosphatemia

description: Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.


Migratory arthritis

description: A form of reactive arthritis in which the inflammation moves between joints.


name: CEL2A_HUMAN Chymotrypsin-like elastase family member 2A (sprot)

description: A chymotrypsin-like elastase family member 2A that is encoded in the genome of human.


DIELDRIN

An organochlorine compound resulting from the epoxidation of the double bond of aldrin. It is the active metabolite of the proinsecticde aldrin.


bullous keratopathy

description: Keratopathy that is characterized by the presence of epithelial bullae.


nerve sheath neoplasm

description: A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.


autosomal dominant ichthyosis vulgaris

description: Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.


DEND_HUMAN Dendrin (sprot)

A dendrin that is encoded in the genome of human.


argyria

description: Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).


methylphenobarbital

A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at N-1 by a methyl group and at C-5 by ethyl and phenyl groups.


P2RY8_HUMAN P2Y purinoceptor 8 (sprot)

A P2Y purinoceptor 8 that is encoded in the genome of human.


name: RMND1_HUMAN Required for meiotic nuclear division protein 1 homolog (sprot)

description: A required for meiotic nuclear division protein 1 that is encoded in the genome of human.


SEM6C_HUMAN Semaphorin-6C (sprot)

A semaphorin-6C that is encoded in the genome of human.


name: congenital anomaly of kidney and urinary tract

description: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.


name: ATL5_HUMAN ADAMTS-like protein 5 (sprot)

description: An ADAMTS-like protein 5 that is encoded in the genome of human.


MYNN_HUMAN Myoneurin (sprot)

A myoneurin that is encoded in the genome of human.


A member of the class of  phenols that is phenol carrying an allyl group at position 2.


name: MBLC1_HUMAN Metallo-beta-lactamase domain-containing protein 1 (sprot)

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


name: IF3M_HUMAN Translation initiation factor IF-3, mitochondrial (sprot)

description: A translation initiation factor IF-3, mitochondrial that is encoded in the genome of human.


name: KCD21_HUMAN BTB/POZ domain-containing protein KCTD21 (sprot)

description: A BTB/POZ domain-containing protein KCTD21 that is encoded in the genome of human.


PECTOLINARIN

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


name: 2-Butene-1,4-diamine, N,N'-bis(3-(ethylamino)propyl)-, tetrahydrochloride, (Z)-


The 5alpha-stereoisomer of cholestane.


name: AN18B_HUMAN Ankyrin repeat domain-containing protein 18B (sprot)

description: An ankyrin repeat domain-containing protein 18B that is encoded in the genome of human.


methoxide

An organic anion that is the conjugate base of methanol.


name: 2A5E_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform (sprot)

description: A serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform that is encoded in the genome of human.


name: EVPLL_HUMAN Envoplakin-like protein (sprot)

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


name: CTF8_HUMAN Chromosome transmission fidelity protein 8 homolog (sprot)

description: A chromosome transmission fidelity protein 8 homolog that is encoded in the genome of human.


BFSP2_HUMAN Phakinin (sprot)

A phakinin that is encoded in the genome of human.


name: P121A_HUMAN Nuclear envelope pore membrane protein POM 121 (sprot)

description: A nuclear envelope pore membrane protein POM 121 that is encoded in the genome of human.


AQP6_HUMAN Aquaporin-6 (sprot)

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


name: BEND4_HUMAN BEN domain-containing protein 4 (sprot)

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


PEPL_HUMAN Periplakin (sprot)

A periplakin that is encoded in the genome of human.


syndromic craniosynostosis

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


name: TMC3_HUMAN Transmembrane channel-like protein 3 (sprot)

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


name: adnexal spiradenoma/cylindroma of a sweat gland

description: A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


mucolipidosis

description: A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.


name: GPC5C_HUMAN G-protein coupled receptor family C group 5 member C (sprot)

description: A G-protein coupled receptor family C group 5 member C that is encoded in the genome of human.


Intestinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.


name: ZN589_HUMAN Zinc finger protein 589 (sprot)

description: A zinc finger protein 589 that is encoded in the genome of human.


name: PCDC2_HUMAN Protocadherin alpha-C2 (sprot)

description: A protocadherin alpha-C2 that is encoded in the genome of human.


name: NCLX_HUMAN Mitochondrial sodium/calcium exchanger protein (sprot)

description: A mitochondrial sodium/calcium exchanger protein that is encoded in the genome of human.


name: TYSD1_HUMAN Peroxisomal leader peptide-processing protease (sprot)

description: A peroxisomal leader peptide-processing protease that is encoded in the genome of human.


tin(II) chloride (anhydrous)

An inorganic chloride that has formula Cl2Sn.


ITA10_HUMAN Integrin alpha-10 (sprot)

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


homostachydrine

An ammonium betaine that is pipecolic acid zwitterion with methyl groups substituted for the two hydrogens at the nitrogen. It is found in in fruits, seeds, and leaves of orange, lemon, and bergamot.


Benzaldehyde substituted at the ortho-position with a nitro group.


name: KCP3_HUMAN Keratinocyte-associated protein 3 (sprot)

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


glyoxal

The dialdehyde that is the smallest possible and which consists of ethane having oxo groups on both carbons.


5,6-dihydroxyindole-2-carboxylic acid

A dihydroxyindole that is indole-2-carboxylic acid substituted by hydroxy groups at positions 5 and 6.


name: TEX15_HUMAN Testis-expressed protein 15 (sprot)

description: A testis-expressed protein 15 that is encoded in the genome of human.


geranic acid

A polyunsaturated fatty acid that is octa-2,6-dienoic acid bearing two methyl substituents at positions 3 and 7 (the 2E-isomer).


canine thyroid adenocarcinoma

description: Adeonocarcinoma of the thyroid gland occurring in a dog.


name: non-papillary transitional cell carcinoma of the bladder


name: UBR7_HUMAN Putative E3 ubiquitin-protein ligase UBR7 (sprot)

description: A putative E3 ubiquitin-protein ligase UBR7 that is encoded in the genome of human.


SPIN3_HUMAN Spindlin-3 (sprot)

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


name: C1GLC_HUMAN C1GALT1-specific chaperone 1 (sprot)

description: A C1GALT1-specific chaperone 1 that is encoded in the genome of human.


cerebral arteritis

description: An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.


PYRAZINE

A diazine that is benzene in which the carbon atoms at positions 1 and 4 have been replaced by nitrogen atoms.


neuroendocrine disorder

description: A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.


herpes zoster dermatitis

description: Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.


tuberous sclerosis 1

description: Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).


name: TRIR_HUMAN Telomerase RNA component interacting RNase (sprot)

description: A telomerase RNA component interacting RNase that is encoded in the genome of human.


name: ASCC2_HUMAN Activating signal cointegrator 1 complex subunit 2 (sprot)

description: An activating signal cointegrator 1 complex subunit 2 that is encoded in the genome of human.


grade III meningioma

description: A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.


CLD9_HUMAN Claudin-9 (sprot)

A claudin-9 that is encoded in the genome of human.


name: LRBA_HUMAN Lipopolysaccharide-responsive and beige-like anchor protein (sprot)

description: A lipopolysaccharide-responsive and beige-like anchor protein that is encoded in the genome of human.


name: OTULL_HUMAN Inactive ubiquitin thioesterase OTULINL (sprot)

description: An inactive ubiquitin thioesterase OTULINL that is encoded in the genome of human.


congenital mitral valve insufficiency

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


description: The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.


name: PARL_HUMAN Presenilin-associated rhomboid-like protein, mitochondrial (sprot)

description: A presenilin-associated rhomboid-like protein, mitochondrial that is encoded in the genome of human.


cyclic hematopoiesis

description: A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.


bladder lymphoma

description: A lymphoma that involves the urinary bladder.


ethyl hexanoate

A fatty acid ethyl ester obtained by the formal condensation of hexanoic acid with ethanol.


bronchial disorder

description: A disease involving the bronchus.


heterochromia iridis

description: Heterochromia iridis is a difference in the color of the iris in the two eyes.


SULFAMIDE

The simplest of the sulfamic acids consisting of a single sulfur atom covalently bound by single bonds to two amino groups and by double bonds to two oxygen atoms.


microtia

description: A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.


name: hereditary hyperferritinemia with congenital cataracts

description: Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.


name: BT3A2_HUMAN Butyrophilin subfamily 3 member A2 (sprot)

description: A butyrophilin subfamily 3 member A2 that is encoded in the genome of human.


Galactosuria

description: Elevated concentration of galactose in the urine.


name: S41A2_HUMAN Solute carrier family 41 member 2 (sprot)

description: A solute carrier family 41 member 2 that is encoded in the genome of human.


name: short stature with nonspecific skeletal abnormalities


Upper motor neuron dysfunction

description: A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.


ENO4_HUMAN Enolase 4 (sprot)

An enolase 4 that is encoded in the genome of human.


paroxysmal extreme pain disorder

description: Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.


name: JMJD8_HUMAN JmjC domain-containing protein 8 (sprot)

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


latanoprost (free acid form)

A prostaglandin Falpha that is an analogue of prostaglandin F2alpha in which the pentyl group has been replaced by 2-phenylethyl and where the the 13,14-double bond has undergone formal hydrogenation. Its isopropyl ester prodrug, latanoprost, is used in the treatment of open-angle glaucoma and ocular hypertension.


name: MI4GD_HUMAN MIF4G domain-containing protein (sprot)

description: A MIF4G domain-containing protein that is encoded in the genome of human.


name: SI1L3_HUMAN Signal-induced proliferation-associated 1-like protein 3 (sprot)

description: A signal-induced proliferation-associated 1-like protein 3 that is encoded in the genome of human.


name: ALDOB_HUMAN Fructose-bisphosphate aldolase B (sprot)

description: A fructose-bisphosphate aldolase B that is encoded in the genome of human.


CRBA2_HUMAN Beta-crystallin A2 (sprot)

A beta-crystallin A2 that is encoded in the genome of human.


Thiel-Behnke corneal dystrophy

description: Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.


sporadic porphyria cutanea tarda

description: An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.


HELENALIN

A sesquiterpene lactone that is 3,3a,4,4a,7a,8,9,9a-octahydroazuleno[6,5-b]furan-2,5-dione substituted by a hydroxy group at position 4, methyl groups at positions 4a and 8 and a methylidene group at position 3 (the 3aS,4S,4aR,7aR,8R,9aR stereoisomer).


BH4-deficient hyperphenylalaninemia A

description: An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.


name: F120C_HUMAN Constitutive coactivator of PPAR-gamma-like protein 2 (sprot)

description: A constitutive coactivator of PPAR-gamma-like protein 2 that is encoded in the genome of human.


CYCLOPHOSPHAMIDE

The monohydrate of cyclophosphamide.


upper lip cancer

description: A malignant neoplasm involving the upper lip.


name: KRT36_HUMAN Keratin, type I cuticular Ha6 (sprot)

description: A keratin, type I cuticular Ha6 that is encoded in the genome of human.


name: SOAT_HUMAN Sodium-dependent organic anion transporter (sprot)

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


simple endometrial hyperplasia

description: A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.


name: RGPS2_HUMAN Ras-specific guanine nucleotide-releasing factor RalGPS2 (sprot)

description: A Ras-specific guanine nucleotide-releasing factor RalGPS2 that is encoded in the genome of human.


jejunal adenocarcinoma

description: A adenocarcinoma that involves the jejunum.


name: DPM1_HUMAN Dolichol-phosphate mannosyltransferase subunit 1 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 1 that is encoded in the genome of human.


name: ABTB1_HUMAN Ankyrin repeat and BTB/POZ domain-containing protein 1 (sprot)

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


Chronic axonal neuropathy

description: An abnormality characterized by chronic impairment of the normal functioning of the axons.


epidermal appendage tumor

description: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.


ANTHRACENE

An ortho-fused tricyclic hydrocarbon comprising three fused benzene rings.


CETYLPYRIDINIUM BROMIDE

A pyridinium salt that has N-hexadecylpyridinium as the cation and bromide as the anion.


familial ovarian carcinoma

description: Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.


SDK2_HUMAN Protein sidekick-2 (sprot)

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


canine leukemia

description: An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.


malignant tumor of floor of mouth

description: A cancer that involves the mouth floor.


name: NACAM_HUMAN Nascent polypeptide-associated complex subunit alpha, muscle-specific form (sprot)

description: A nascent polypeptide-associated complex subunit alpha, muscle-specific form (human), isoforms h1 and h2.


name: DJB12_HUMAN DnaJ homolog subfamily B member 12 (sprot)

description: A DnaJ homolog subfamily B member 12 that is encoded in the genome of human.


TYROSOL

A phenol substituted at position 4 by a 2-hydroxyethyl group.


acute pharyngitis

description: An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.


name: myeloid neoplasm associated with PDGFRA rearrangement

description: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.


name: PLCZ1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 (sprot)

description: A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 that is encoded in the genome of human.


name: NC2A_HUMAN Dr1-associated corepressor (sprot)

description: A Dr1-associated corepressor that is encoded in the genome of human.


name: GLT10_HUMAN Polypeptide N-acetylgalactosaminyltransferase 10 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 10 that is encoded in the genome of human.


name: ADT4_HUMAN ADP/ATP translocase 4 (sprot)

description: An ADP/ATP translocase 4 that is encoded in the genome of human.


name: DPF1_HUMAN Zinc finger protein neuro-d4 (sprot)

description: A zinc finger protein neuro-d4 that is encoded in the genome of human.


Colonic diverticula

description: The presence of multiple diverticula of the colon.


name: RUXF_HUMAN Small nuclear ribonucleoprotein F (sprot)

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


phaeohyphomycosis

description: An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.


desmoplastic/nodular medulloblastoma

description: A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.


MMS22_HUMAN Protein MMS22-like (sprot)

A protein MMS22-like that is encoded in the genome of human.


name: TONSL_HUMAN Tonsoku-like protein (sprot)

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


NOL8_HUMAN Nucleolar protein 8 (sprot)

A nucleolar protein 8 that is encoded in the genome of human.


ANX13_HUMAN Annexin A13 (sprot)

An annexin A13 that is encoded in the genome of human.


name: CO6A5_HUMAN Collagen alpha-5(VI) chain (sprot)

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


name: syndromic X-linked intellectual disability Lubs type

description: Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.


A methylnaphthalene carrying a methyl substituent at position 1.


name: EIPR1_HUMAN EARP and GARP complex-interacting protein 1 (sprot)

description: An EARP and GARP complex-interacting protein 1 that is encoded in the genome of human.


name: HV434_HUMAN Immunoglobulin heavy variable 4-34 (sprot)

description: A protein that is a translation product of the IGHV4-34 gene in human.


name: RGR_HUMAN RPE-retinal G protein-coupled receptor (sprot)

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


NIKKOMYCIN

A uridine-based nucleoside-peptide antibiotic which inhibits fungal chitin biosynthesis by inhibiting chitin synthase.


name: MISFA_HUMAN Mitochondrial sheath formation-associated protein (sprot)

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


name: MAGA9_HUMAN Melanoma-associated antigen 9 (sprot)

description: A melanoma-associated antigen 9 that is encoded in the genome of human.


name: FHR4_HUMAN Complement factor H-related protein 4 (sprot)

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


name: FBX40_HUMAN F-box only protein 40 (sprot)

description: An F-box only protein 40 that is encoded in the genome of human.


viral gastritis

description: Inflammation of the stomach resulting from viral infection.


Thin upper lip vermilion

description: Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).


name: PCDBG_HUMAN Protocadherin beta-16 (sprot)

description: A protocadherin beta-16 that is encoded in the genome of human.


name: TXND9_HUMAN Thioredoxin domain-containing protein 9 (sprot)

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


name: HMGX3_HUMAN HMG domain-containing protein 3 (sprot)

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


secondary hypertension

description: High blood pressure caused by an underlying medical condition.


name: UBP46_HUMAN Ubiquitin carboxyl-terminal hydrolase 46 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 46 that is encoded in the genome of human.