DODECANOL

A primary alcohol that is dodecane in which a hydrogen from one of the methyl groups is replaced by a hydroxy group. It is registered for use in apple and pear orchards as a Lepidopteran pheromone/sex attractant, used to disrupt the mating behaviour of certain moths whose larvae destroy crops.


GLPC_HUMAN Glycophorin-C (sprot)

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


NIBA1_HUMAN Protein Niban 1 (sprot)

A protein Niban 1 that is encoded in the genome of human.


melanotic neuroectodermal tumor

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

description: A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.


name: CNNM2_HUMAN Metal transporter CNNM2 (sprot)

description: A metal transporter CNNM2 that is encoded in the genome of human.


name: DPOE3_HUMAN DNA polymerase epsilon subunit 3 (sprot)

description: A DNA polymerase epsilon subunit 3 that is encoded in the genome of human.


name: DPOE4_HUMAN DNA polymerase epsilon subunit 4 (sprot)

description: A DNA polymerase epsilon subunit 4 that is encoded in the genome of human.


name: SIGL6_HUMAN Sialic acid-binding Ig-like lectin 6 (sprot)

description: A sialic acid-binding Ig-like lectin 6 that is encoded in the genome of human.


name: KRCC1_HUMAN Lysine-rich coiled-coil protein 1 (sprot)

description: A lysine-rich coiled-coil protein 1 that is encoded in the genome of human.


mesonephric adenocarcinoma

description: An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants.


CYTA_HUMAN Cystatin-A (sprot)

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


vaginal adenocarcinoma

description: An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.


name: KLH13_HUMAN Kelch-like protein 13 (sprot)

description: A kelch-like protein 13 that is encoded in the genome of human.


name: SUGP2_HUMAN SURP and G-patch domain-containing protein 2 (sprot)

description: A SURP and G-patch domain-containing protein 2 that is encoded in the genome of human.


name: S39AA_HUMAN Zinc transporter ZIP10 (sprot)

description: A zinc transporter ZIP10 that is encoded in the genome of human.


cleidocranial dysplasia 1

description: A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.


name: RN152_HUMAN E3 ubiquitin-protein ligase RNF152 (sprot)

description: An E3 ubiquitin-protein ligase RNF152 that is encoded in the genome of human.


familial pancreatic carcinoma

description: Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.


familial dysfibrinogenemia

description: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


seborrheic keratosis

description: A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.


name: T178A_HUMAN Transmembrane protein 178A (sprot)

description: A transmembrane protein 178A that is encoded in the genome of human.


name: RAVR2_HUMAN Ribonucleoprotein PTB-binding 2 (sprot)

description: A ribonucleoprotein PTB-binding 2 that is encoded in the genome of human.


punctate inner choroidopathy

description: A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.


idiopathic aplastic anemia

description: Aplastic anemia without a known cause.


Glossoptosis

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

description: Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.


dioleoylphosphatidic acid

A phosphatidic acid in which the phosphatidyl acyl groups are both oleoyl.


peripheral retinal degeneration

description: Degeneration of the peripheral retina.


ACLIDINIUM BROMIDE

A quaternary ammonium salt that is the bromide salt of aclidinium. A muscarinic acetylcholine M3 receptor antagonist, for the long-term maintenance treatment of bronchospasm associated with chronic obstructive pulmonary disease (COPD).


name: SCAM4_HUMAN Secretory carrier-associated membrane protein 4 (sprot)

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


FA83F_HUMAN Protein FAM83F (sprot)

A protein FAM83F that is encoded in the genome of human.


name: SURF6_HUMAN Surfeit locus protein 6 (sprot)

description: A surfeit locus protein 6 that is encoded in the genome of human.


multidrug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.


name: ABHD4_HUMAN (Lyso)-N-acylphosphatidylethanolamine lipase (sprot)

description: A (lyso)-N-acylphosphatidylethanolamine lipase that is encoded in the genome of human.


name: S19A3_HUMAN Thiamine transporter 2 (sprot)

description: A thiamine transporter 2 that is encoded in the genome of human.


name: GIPC2_HUMAN PDZ domain-containing protein GIPC2 (sprot)

description: A PDZ domain-containing protein GIPC2 that is encoded in the genome of human.


name: VMAT1_HUMAN Chromaffin granule amine transporter (sprot)

description: A chromaffin granule amine transporter that is encoded in the genome of human.


name: RFA4_HUMAN Replication protein A 30 kDa subunit (sprot)

description: A replication protein A 30 kDa subunit that is encoded in the genome of human.


name: TSAP1_HUMAN tRNA selenocysteine 1-associated protein 1 (sprot)

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


name: NRL_HUMAN Neural retina-specific leucine zipper protein (sprot)

description: A neural retina-specific leucine zipper protein that is encoded in the genome of human.


name: isolated thyrotropin-releasing hormone deficiency

description: Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.


name: refractory anemia with excess blasts in transformation

description: Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.


name: HS3S1_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 1 (sprot)

description: A heparan sulfate glucosamine 3-O-sulfotransferase 1 that is encoded in the genome of human.


name: CLIP3_HUMAN CAP-Gly domain-containing linker protein 3 (sprot)

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


name: PGRC2_HUMAN Membrane-associated progesterone receptor component 2 (sprot)

description: A membrane-associated progesterone receptor component 2 that is encoded in the genome of human.


name: E41LA_HUMAN Band 4.1-like protein 4A (sprot)

description: A band 4.1-like protein 4A that is encoded in the genome of human.


nosocomial infection

description: An infection acquired in a hospital or other healthcare setting.


Lassa fever

description: A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.


PHENYLMETHYLSULFONYLFLUORIDE

An acyl fluoride with phenylmethanesulfonyl as the acyl group.


name: BIEA_HUMAN Biliverdin reductase A (sprot)

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


Dandy-Walker syndrome

description: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.


toxocariasis

description: A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.


FCRLA_HUMAN Fc receptor-like A (sprot)

An Fc receptor-like A that is encoded in the genome of human.


Palmoplantar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


name: progressive familial intrahepatic cholestasis type 3

description: Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.


name: SHLD2_HUMAN Shieldin complex subunit 2 (sprot)

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


staphylococcal infection

description: An infection caused by Staphylococcus.


A synthetic radioactive isotope of chromium having a half-life of 27.7 days and decaying by electron capture with emission of gamma rays (0.32 MeV); it is used to label red blood cells for measurement of mass or volume, survival time, and sequestration studies, for the diagnosis of gastrointestinal bleeding, and to label platelets to study their survival.


sella turcica neoplasm

description: A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.


name: ZN513_HUMAN Zinc finger protein 513 (sprot)

description: A zinc finger protein 513 that is encoded in the genome of human.


name: GNA15_HUMAN Guanine nucleotide-binding protein subunit alpha-15 (sprot)

description: A guanine nucleotide-binding protein subunit alpha-15 that is encoded in the genome of human.


Delayed gross motor development

description: A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.


name: RT23_HUMAN Small ribosomal subunit protein mS23 (sprot)

description: A small ribosomal subunit protein mS23 that is encoded in the genome of human.


fetal akinesia deformation sequence

description: Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.


EVI2B_HUMAN Protein EVI2B (sprot)

A protein EVI2B that is encoded in the genome of human.


name: ALKL2_HUMAN ALK and LTK ligand 2 (sprot)

description: An ALK and LTK ligand 2 that is encoded in the genome of human.


combined small cell lung carcinoma

description: A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.


A derivative of aniline in which the hydrogen at position 2 has been substituted by fluorine. It is used as a pharmaceutical intermediate


name: GDPD3_HUMAN Lysophospholipase D GDPD3 (sprot)

description: A lysophospholipase D GDPD3 that is encoded in the genome of human.


name: ZMYM5_HUMAN Zinc finger MYM-type protein 5 (sprot)

description: A zinc finger MYM-type protein 5 that is encoded in the genome of human.


name: NPT3_HUMAN Sodium-dependent phosphate transport protein 3 (sprot)

description: A sodium-dependent phosphate transport protein 3 that is encoded in the genome of human.


Usher syndrome type 2

description: A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.


acetic anhydride

An acyclic carboxylic anhydride derived from acetic acid.


name: ZBT25_HUMAN Zinc finger and BTB domain-containing protein 25 (sprot)

description: A zinc finger and BTB domain-containing protein 25 that is encoded in the genome of human.


name: GSLG1_HUMAN Golgi apparatus protein 1 (sprot)

description: A Golgi apparatus protein 1 that is encoded in the genome of human.


name: myelodysplastic syndrome associated with isolated del(5q)

description: A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)


AKIR1_HUMAN Akirin-1 (sprot)

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


name: OTUD4_HUMAN OTU domain-containing protein 4 (sprot)

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


Aortic stiffness

description: The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.


name: PKHG2_HUMAN Pleckstrin homology domain-containing family G member 2 (sprot)

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


malignant tumor of parathyroid gland

description: A cancer that involves the parathyroid gland.


name: complete androgen insensitivity syndrome

description: Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.


TOFA

A member of the class of furans that is 2-furoic acid in which the hydrogen at position 5 is replaced by a tetradecyloxy group.


name: GXLT2_HUMAN Glucoside xylosyltransferase 2 (sprot)

description: A glucoside xylosyltransferase 2 that is encoded in the genome of human.


CYTT_HUMAN Cystatin-SA (sprot)

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


name: TLX3_HUMAN T-cell leukemia homeobox protein 3 (sprot)

description: A T-cell leukemia homeobox protein 3 that is encoded in the genome of human.


name: ASB15_HUMAN Ankyrin repeat and SOCS box protein 15 (sprot)

description: An ankyrin repeat and SOCS box protein 15 that is encoded in the genome of human.


name: SPAT4_HUMAN Spermatogenesis-associated protein 4 (sprot)

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


CETYL PALMITATE

A palmitate ester resulting from the formal condensation of palmitic acid with palmityl alcohol. It is used as a thickener and emollient in cosmetics.


name: SMG9_HUMAN Nonsense-mediated mRNA decay factor SMG9 (sprot)

description: A nonsense-mediated mRNA decay factor SMG9 that is encoded in the genome of human.


name: GOG8B_HUMAN Golgin subfamily A member 8B (sprot)

description: A golgin subfamily A member 8B that is encoded in the genome of human.


name: GRPR_HUMAN Gastrin-releasing peptide receptor (sprot)

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


ANO7_HUMAN Anoctamin-7 (sprot)

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


A member of the class of indoles that is 2-methyltryptamine in which a hydrogen attached to the primary amino group has been replaced by a 2-fluorobenzoyl group. It is a cell-permeable inhibitor of actin assembly mediated by actin-related protein Arp2/3 complex which works by binding to Arp2/3 complex, stabilising the inactive state of the complex and preventing its movement into the active conformation.


Cognitive fatigue

description: A failure to sustain attention that requires self-motivation to optimize performance.


Nail dysplasia

description: The presence of developmental dysplasia of the nail.


euflavine

A mixture comprising 3,6-diamino-10-methylacridinium chloride (usually 60-70%) and 3,6-diaminoacridine monohydrochloride (usually 40-30%).


WOGONIN

A dihydroxy- and monomethoxy-flavone in which the hydroxy groups are positioned at C-5 and C-7 and the methoxy group is at C-8.


name: E41L5_HUMAN Band 4.1-like protein 5 (sprot)

description: A band 4.1-like protein 5 that is encoded in the genome of human.


docosanoic acid

A straight-chain, C22, long-chain saturated fatty acid.


name: GTR10_HUMAN Solute carrier family 2, facilitated glucose transporter member 10 (sprot)

description: A solute carrier family 2, facilitated glucose transporter member 10 that is encoded in the genome of human.


A methylpyridine that is pyridine substituted by a methyl group at position 3.


name: COJA1_HUMAN Collagen alpha-1(XIX) chain (sprot)

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


name: PEX10_HUMAN Peroxisome biogenesis factor 10 (sprot)

description: A peroxisome biogenesis factor 10 that is encoded in the genome of human.


name: KIF17_HUMAN Kinesin-like protein KIF17 (sprot)

description: A kinesin-like protein KIF17 that is encoded in the genome of human.


name: PRCC_HUMAN Proline-rich protein PRCC (sprot)

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


name: HECW1_HUMAN E3 ubiquitin-protein ligase HECW1 (sprot)

description: An E3 ubiquitin-protein ligase HECW1 that is encoded in the genome of human.


name: GBRD_HUMAN Gamma-aminobutyric acid receptor subunit delta (sprot)

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


name: TRI35_HUMAN E3 ubiquitin-protein ligase TRIM35 (sprot)

description: An E3 ubiquitin-protein ligase TRIM35 that is encoded in the genome of human.


secondary carcinoma

description: A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.


name: RX_HUMAN Retinal homeobox protein Rx (sprot)

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


endomyometritis

description: An inflammation of the endometrium and the myometrium.


Clitoral hypertrophy

description: Hypertrophy of the clitoris.


Spinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.


name: REM2_HUMAN GTP-binding protein REM 2 (sprot)

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


name: PFKAP_HUMAN ATP-dependent 6-phosphofructokinase, platelet type (sprot)

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


Diffuse lupus nephritis

description: A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.


T-cell childhood lymphoblastic lymphoma

description: A T lymphoblastic lymphoma that occurs during childhood.


name: GPAA1_HUMAN Glycosylphosphatidylinositol anchor attachment 1 protein (sprot)

description: A glycosylphosphatidylinositol anchor attachment 1 protein that is encoded in the genome of human.


name: CXA8_HUMAN Gap junction alpha-8 protein (sprot)

description: A gap junction alpha-8 protein that is encoded in the genome of human.


name: minor salivary gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.


thymus small cell carcinoma

description: An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.


name: GBG10_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 that is encoded in the genome of human.


name: ACM4_HUMAN Muscarinic acetylcholine receptor M4 (sprot)

description: A muscarinic acetylcholine receptor M4 that is encoded in the genome of human.


name: nodular sclerosis classical Hodgkin lymphoma

description: A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)


SIBIROMYCIN

An aminoglycoside antibiotic produced by Streptosporangium sibiricum that also exhibits antitumour properties.


Renal salt wasting

description: A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).


name: RIBC2_HUMAN RIB43A-like with coiled-coils protein 2 (sprot)

description: A RIB43A-like with coiled-coils protein 2 that is encoded in the genome of human.


name: VGLL2_HUMAN Transcription cofactor vestigial-like protein 2 (sprot)

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


name: CGAT2_HUMAN Chondroitin sulfate N-acetylgalactosaminyltransferase 2 (sprot)

description: A chondroitin sulfate N-acetylgalactosaminyltransferase 2 that is encoded in the genome of human.


neoplasm of hypopharynx

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


(+)-CALANOLIDE A

An organic heterotetracyclic compound that is 11,12-dihydro-2H,6H,10H-dipyrano[2,3-f:2',3'-h]chromen-2-one substituted by a hydroxy group at position 12, methyl groups at positions 6, 6, 10 and 11 and a propyl group at position 4 (the 10R,11S,12S stereoisomer). Isolated from Calophyllum lanigerum var austrocoriaceum and Calophyllum brasiliense, it exhibits potent activity against HIV-1 reverse transcriptase.


name: TTBK1_HUMAN Tau-tubulin kinase 1 (sprot)

description: A tau-tubulin kinase 1 that is encoded in the genome of human.


name: NASP_HUMAN Nuclear autoantigenic sperm protein (sprot)

description: A nuclear autoantigenic sperm protein that is encoded in the genome of human.


NPB_HUMAN Neuropeptide B (sprot)

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


name: PLCD_HUMAN 1-acyl-sn-glycerol-3-phosphate acyltransferase delta (sprot)

description: A 1-acyl-sn-glycerol-3-phosphate acyltransferase delta that is encoded in the genome of human.


Pancreatic fistula

description: An abnormal communication between the pancreas and another organ or cavity.


name: RL32_HUMAN Large ribosomal subunit protein eL32 (sprot)

description: A large ribosomal subunit protein eL32 that is encoded in the genome of human.


Fragile nails

description: Nails that easily break.


name: PLPR5_HUMAN Phospholipid phosphatase-related protein type 5 (sprot)

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


name: NEK3_HUMAN Serine/threonine-protein kinase Nek3 (sprot)

description: A serine/threonine-protein kinase Nek3 that is encoded in the genome of human.


name: DLGP4_HUMAN Disks large-associated protein 4 (sprot)

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


Abnormality of the vertebral column

description: Any abnormality of the vertebral column.


name: MOS_HUMAN Proto-oncogene serine/threonine-protein kinase mos (sprot)

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


status epilepticus

description: A life-threatening situation in which the brain is in a continuous state of seizure.


S2A4R_HUMAN SLC2A4 regulator (sprot)

An SLC2A4 regulator that is encoded in the genome of human.


Melasma

description: Symmetrical, blotchy, brownish facial pigmentation.


name: PKHA9_HUMAN Putative protein PLEKHA9 (sprot)

description: A putative protein PLEKHA9 that is encoded in the genome of human.


name: K1C13_HUMAN Keratin, type I cytoskeletal 13 (sprot)

description: A keratin, type I cytoskeletal 13 that is encoded in the genome of human.


baicalin

The glycosyloxyflavone which is the 7-O-glucuronide of baicalein. It is an active ingredient of Chinese herbal medicine Scutellaria baicalensis.


name: LRC25_HUMAN Leucine-rich repeat-containing protein 25 (sprot)

description: A leucine-rich repeat-containing protein 25 that is encoded in the genome of human.


name: VMA5A_HUMAN von Willebrand factor A domain-containing protein 5A (sprot)

description: A loss of heterozygosity 11 chromosomal region 2 gene A protein that is encoded in the genome of human.


name: GTPB3_HUMAN tRNA modification GTPase GTPBP3, mitochondrial (sprot)

description: A tRNA modification GTPase GTPBP3, mitochondrial that is encoded in the genome of human.


name: KRT34_HUMAN Keratin, type I cuticular Ha4 (sprot)

description: A keratin, type I cuticular Ha4 that is encoded in the genome of human.


name: KCNN1_HUMAN Small conductance calcium-activated potassium channel protein 1 (sprot)

description: A small conductance calcium-activated potassium channel protein 1 that is encoded in the genome of human.


Crohn ileitis

description: An Crohn disease involving a pathogenic inflammatory response in the ileum.


name: CR3L1_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 1 (sprot)

description: A cyclic AMP-responsive element-binding protein 3-like protein 1 that is encoded in the genome of human.


name: GP152_HUMAN Probable G-protein coupled receptor 152 (sprot)

description: A probable G-protein coupled receptor 152 that is encoded in the genome of human.


ISOPROPYLBENZENE

An alkylbenzene that is benzene carrying an isopropyl group.


name: CRBL2_HUMAN cAMP-responsive element-binding protein-like 2 (sprot)

description: A cAMP-responsive element-binding protein-like 2 that is encoded in the genome of human.


An amino trisaccharide consisting of alpha-L-fucose, beta-D-galactose and N-acetyl-beta-D-glucosamine residues joined by sequential (1->2)- and (1->3)-linkages.


bathocuproine disulfonic acid

A phenanthroline that consists of 1,10-phenanthroline bearing two methyl groups at position 2 and 9 as well as two 4-sulfophenyl groups at positions 4 and 7.


name: PTPRM_HUMAN Receptor-type tyrosine-protein phosphatase mu (sprot)

description: A receptor-type tyrosine-protein phosphatase mu that is encoded in the genome of human.


MELPH_HUMAN Melanophilin (sprot)

A melanophilin that is encoded in the genome of human.


neurotic excoriation

description: A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.


name: PTPS_HUMAN 6-pyruvoyl tetrahydrobiopterin synthase (sprot)

description: A 6-pyruvoyl tetrahydrobiopterin synthase that is encoded in the genome of human.


name: ACADM_HUMAN Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)

description: A medium-chain specific acyl-CoA dehydrogenase, mitochondrial that is encoded in the genome of human.


name: ARI3B_HUMAN AT-rich interactive domain-containing protein 3B (sprot)

description: An AT-rich interactive domain-containing protein 3B that is encoded in the genome of human.


chemotherapy-induced oral mucositis

description: Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.


gastrin-producing neuroendocrine tumor

description: A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.


name: APOBR_HUMAN Apolipoprotein B receptor (sprot)

description: An apolipoprotein B receptor that is encoded in the genome of human.


name: KCAB2_HUMAN Voltage-gated potassium channel subunit beta-2 (sprot)

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


name: NGBR_HUMAN Dehydrodolichyl diphosphate synthase complex subunit NUS1 (sprot)

description: A dehydrodolichyl diphosphate synthase complex subunit NUS1 that is encoded in the genome of human.


TRDN_HUMAN Triadin (sprot)

A triadin that is encoded in the genome of human.


name: EXOC1_HUMAN Exocyst complex component 1 (sprot)

description: An exocyst complex component 1 that is encoded in the genome of human.


name: KIF9_HUMAN Kinesin-like protein KIF9 (sprot)

description: A kinesin-like protein KIF9 that is encoded in the genome of human.


name: G6PD_HUMAN Glucose-6-phosphate 1-dehydrogenase (sprot)

description: A glucose-6-phosphate 1-dehydrogenase that is encoded in the genome of human.


beryllium oxide

A beryllium molecular entity consisting of beryllium (+2 oxidation state) and oxide in the ratio 1:1. In the solid state, BeO adopts the hexagonal wurtzite structure form while in the vapour phase, it is present as discrete diatomic covalent molecules.


growing teratoma syndrome

description: A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.


name: Cushing syndrome due to macronodular adrenal hyperplasia

description: A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


name: interstitial lung disease specific to childhood

description: A interstitial lung disease that occurs during childhood.


thrombocytopenia-absent radius syndrome

description: Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.


name: STP2_HUMAN Nuclear transition protein 2 (sprot)

description: A nuclear transition protein 2 that is encoded in the genome of human.


name: RSSA_HUMAN Small ribosomal subunit protein uS2 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS2 that is encoded in the genome of human.


name: purine nucleoside phosphorylase deficiency

description: Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


name: TM45B_HUMAN Transmembrane protein 45B (sprot)

description: A transmembrane protein 45B that is encoded in the genome of human.


olivetolic acid

A member of the class of benzoic acids that is salicylic acid in which the hydrogens ortho- and para- to the carboxy group are replaced by a pentyl and a hydroxy group, respectively.


gamithromycin

A macrolide antibiotic with formula C40H76N2O12. It is used for the treatment of of bovine respiratory disease caused by Mannheimia haemolytica, Pasteurella multocida, Histophilus somni and Mycoplasma bovis in beef and non-lactating dairy cattle. The compound is also licensed in Europe for the treatment of footrot in sheep caused by Dichelobacter nodosus and Fusobacterium nodosus.


description: A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).


name: SGSM3_HUMAN Small G protein signaling modulator 3 (sprot)

description: A small G protein signaling modulator 3 that is encoded in the genome of human.


name: NYAP2_HUMAN Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 (sprot)

description: A neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 that is encoded in the genome of human.


10-hydroxyoctadecanoic acid

A hydroxy fatty acid that is octadecanoic acid carrying a hydroxy group at position 10.


GOSSYPETIN

A hexahydroxyflavone having the hydroxy groups placed at the 3-, 3'-, 4'-, 5- 7- and 8-positions.


name: familial juvenile hyperuricemic nephropathy type 1

description: A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.


EPN3_HUMAN Epsin-3 (sprot)

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


name: LRFN2_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 2 (sprot)

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


name: AP1G2_HUMAN AP-1 complex subunit gamma-like 2 (sprot)

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


bipolar depression

description: The depressive stage of bipolar disorder.


Severe intrauterine growth retardation

description: Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.


vibegron

A pyrrolopyrimidine obtained by formal condensation of the carboxy group of (6S)-4-oxo-4,6,7,8-tetrahydropyrrolo[1,2-a]pyrimidine-6-carboxylic acid with the amino group of (R)-[(2R,5S)-5-(4-aminobenzyl)pyrrolidin-2-yl](phenyl)methanol. It is a beta3-adrenergic receptor agonist currently in clinical development for the treatment of patients with overactive bladder.


name: CHMP7_HUMAN Charged multivesicular body protein 7 (sprot)

description: A charged multivesicular body protein 7 that is encoded in the genome of human.


name: DPP2_HUMAN Dipeptidyl peptidase 2 (sprot)

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


PORIM_HUMAN Porimin (sprot)

A porimin that is encoded in the genome of human.


infectious meningitis

description: Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.


Epstein-Barr virus hepatitis

description: A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.


Thyroid dysgenesis

description: A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


FA83B_HUMAN Protein FAM83B (sprot)

A protein FAM83B that is encoded in the genome of human.


name: PRSR1_HUMAN Proline and serine-rich protein 1 (sprot)

description: A proline and serine-rich protein 1 that is encoded in the genome of human.


Singleton-Merten syndrome 1

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.


placental choriocarcinoma

description: Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.


ethmoid sinus adenocarcinoma

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


name: ADPRH_HUMAN ADP-ribosylhydrolase ARH1 (sprot)

description: An ADP-ribosylhydrolase ARH1 that is encoded in the genome of human.


MESOTRIONE

An aromatic ketone that is cyclohexa-1,3-dione in which one of the hydrogens at position 2 is substituted by a 4-(methanesulfonyl)-2-nitrobenzoyl group.


name: RTF1_HUMAN RNA polymerase-associated protein RTF1 homolog (sprot)

description: An RNA polymerase-associated protein RTF1 that is encoded in the genome of human.


FMN2_HUMAN Formin-2 (sprot)

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


refractory hairy cell leukemia

description: Hairy cell leukemia that is resistant to treatment.


Miyoshi myopathy

description: A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.


trigeminal nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.


name: MICA3_HUMAN [F-actin]-monooxygenase MICAL3 (sprot)

description: An [F-actin]-monooxygenase MICAL3 that is encoded in the genome of human.


name: SPRR3_HUMAN Small proline-rich protein 3 (sprot)

description: A small proline-rich protein 3 that is encoded in the genome of human.


name: JUNO_HUMAN Sperm-egg fusion protein Juno (sprot)

description: A sperm-egg fusion protein Juno that is encoded in the genome of human.


Headache

description: Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.


name: POP7_HUMAN Ribonuclease P protein subunit p20 (sprot)

description: A ribonuclease P protein subunit p20 that is encoded in the genome of human.


name: PI3R4_HUMAN Phosphoinositide 3-kinase regulatory subunit 4 (sprot)

description: A phosphoinositide 3-kinase regulatory subunit 4 that is encoded in the genome of human.


name: RAIN_HUMAN Ras-interacting protein 1 (sprot)

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


name: RHG29_HUMAN Rho GTPase-activating protein 29 (sprot)

description: A Rho GTPase-activating protein 29 that is encoded in the genome of human.


MICONAZOLE NITRATE

A racemate composed of equimolar amounts of (R)- and (S)-miconazole nitrate. An antifungal used for the treatment of athlete's foot, jock itch, ringworm and other fungal skin infections. It inhibits the synthesis of ergosterol, a critical component of fungal cell membranes.


name: ATL4_HUMAN ADAMTS-like protein 4 (sprot)

description: An ADAMTS-like protein 4 that is encoded in the genome of human.


name: CAST1_HUMAN Cytosolic arginine sensor for mTORC1 subunit 1 (sprot)

description: A cytosolic arginine sensor for mTORC1 subunit 1 that is encoded in the genome of human.


pleomorphic liposarcoma

description: Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.


Abnormal lower motor neuron morphology

description: Any structural anomaly of the lower motor neuron.


pediatric hepatocellular carcinoma

description: Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.


name: PGRP4_HUMAN Peptidoglycan recognition protein 4 (sprot)

description: A peptidoglycan recognition protein 4 that is encoded in the genome of human.


name: SDSL_HUMAN Serine dehydratase-like (sprot)

description: A serine dehydratase-like that is encoded in the genome of human.


2-NAPHTHYLACETIC ACID

A naphthylacetic acid carrying a carboxy group at position 2.


name: KRT85_HUMAN Keratin, type II cuticular Hb5 (sprot)

description: A keratin, type II cuticular Hb5 that is encoded in the genome of human.


name: KRT86_HUMAN Keratin, type II cuticular Hb6 (sprot)

description: A keratin, type II cuticular Hb6 that is encoded in the genome of human.


Central nail canal

description: The presence of a depressed line ("canal") in the center of the nail.


name: KBRS2_HUMAN NF-kappa-B inhibitor-interacting Ras-like protein 2 (sprot)

description: An NF-kappa-B inhibitor-interacting Ras-like protein 2 that is encoded in the genome of human.


name: TNR6B_HUMAN Trinucleotide repeat-containing gene 6B protein (sprot)

description: A trinucleotide repeat-containing gene 6B protein that is encoded in the genome of human.


name: KCNKH_HUMAN Potassium channel subfamily K member 17 (sprot)

description: A potassium channel subfamily K member 17 that is encoded in the genome of human.


Angiofibromas

description: Angiofibroma consist of many often dilated vessels.


autoimmune progesterone dermatitis

description: Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.


name: KLD8A_HUMAN Kelch domain-containing protein 8A (sprot)

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


name: FGF22_HUMAN Fibroblast growth factor 22 (sprot)

description: A fibroblast growth factor 22 that is encoded in the genome of human.


name: IL5RA_HUMAN Interleukin-5 receptor subunit alpha (sprot)

description: An interleukin-5 receptor subunit alpha that is encoded in the genome of human.


name: MTHR_HUMAN Methylenetetrahydrofolate reductase (NADPH) (sprot)

description: A methylenetetrahydrofolate reductase (NADPH) that is encoded in the genome of human.


HOMOSERINE

The L-enantiomer of homoserine.


name: RSPH1_HUMAN Radial spoke head 1 homolog (sprot)

description: A radial spoke head 1 that is encoded in the genome of human.


central nervous system origin vertigo

description: An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)


Macronodular adrenal hyperplasia

description: Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


pyridoxamine dihydrochloride

A hydrochloride obtained by combining pyridoxamine with two molar equivalents of hydrochloric acid. Used for treatment of diabetic nephropathy.


mast cell sarcoma

description: A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)


name: TAF5_HUMAN Transcription initiation factor TFIID subunit 5 (sprot)

description: A transcription initiation factor TFIID subunit 5 that is encoded in the genome of human.


An adenosylhomocysteinase that is encoded in the genome of human.


Seckel syndrome

description: A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.


name: BODG_HUMAN Gamma-butyrobetaine dioxygenase (sprot)

description: A gamma-butyrobetaine dioxygenase that is encoded in the genome of human.


breast secretory carcinoma

description: A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.


name: RAB28_HUMAN Ras-related protein Rab-28 (sprot)

description: A Ras-related protein Rab-28 that is encoded in the genome of human.


name: NDUV3_HUMAN NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial that is encoded in the genome of human.


monosodium urate

Monosodium urate (MSU) or uric acid is the aetiological agent of the acute inflammatory condition gout.


KLOT_HUMAN Klotho (sprot)

A klotho that is encoded in the genome of human.


name: CX6B1_HUMAN Cytochrome c oxidase subunit 6B1 (sprot)

description: A cytochrome c oxidase subunit 6B1 that is encoded in the genome of human.


squamous cell carcinoma of lip

description: A squamous cell carcinoma that involves the lip.


SHSA9_HUMAN Protein shisa-9 (sprot)

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


name: COE3_HUMAN Transcription factor COE3 (sprot)

description: A transcription factor COE3 that is encoded in the genome of human.


name: ADCY3_HUMAN Adenylate cyclase type 3 (sprot)

description: An adenylate cyclase type 3 that is encoded in the genome of human.


name: GBRR1_HUMAN Gamma-aminobutyric acid receptor subunit rho-1 (sprot)

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


STRN3_HUMAN Striatin-3 (sprot)

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


name: RAB3C_HUMAN Ras-related protein Rab-3C (sprot)

description: A Ras-related protein Rab-3C that is encoded in the genome of human.


name: STAM2_HUMAN Signal transducing adapter molecule 2 (sprot)

description: A signal transducing adapter molecule 2 that is encoded in the genome of human.


name: RNF13_HUMAN E3 ubiquitin-protein ligase RNF13 (sprot)

description: An E3 ubiquitin-protein ligase RNF13 that is encoded in the genome of human.


cerebral falx meningioma

description: A meningioma that affects the falx cerebri.


phobic disorder

description: An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.


name: GPR27_HUMAN Probable G-protein coupled receptor 27 (sprot)

description: A probable G-protein coupled receptor 27 that is encoded in the genome of human.


Malar rash

description: An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.


name: SPTC3_HUMAN Serine palmitoyltransferase 3 (sprot)

description: A serine palmitoyltransferase 3 that is encoded in the genome of human.


gliomatosis cerebri

description: A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)


name: S35A1_HUMAN CMP-sialic acid transporter (sprot)

description: A CMP-sialic acid transporter that is encoded in the genome of human.


skin sarcoidosis

description: Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.


Pretibial myxedema

description: A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.


name: MGMT_HUMAN Methylated-DNA--protein-cysteine methyltransferase (sprot)

description: A methylated-DNA--protein-cysteine methyltransferase that is encoded in the genome of human.


name: GBRR2_HUMAN Gamma-aminobutyric acid receptor subunit rho-2 (sprot)

description: A gamma-aminobutyric acid receptor subunit rho-2 that is encoded in the genome of human.


FOMITOPINIC ACID A

A tetracyclic triterpenoid that is lanost-8-ene substituted by hydroxy groups at positions 24 and 25 , a carboxylic acid at position 21 and an oxo grouo at position 3 (the 24S stereoisomer). Isolated from the fruit bodies of Fomitopsis pinicola, it exhibits antiinflammatory activity against cylooxygenase-1 (COX-1) and cylooxygenase-2 (COX-2).


vitreoretinal degeneration

description: Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.


nephrotic syndrome, type 4

description: Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.


name: WBP1_HUMAN WW domain-binding protein 1 (sprot)

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


name: S46A2_HUMAN Solute carrier family 46 member 2 (sprot)

description: A thymic stromal cotransporter that is encoded in the genome of human.


name: SUFU_HUMAN Suppressor of fused homolog (sprot)

description: A suppressor of fused homolog that is encoded in the genome of human.


name: ENTP7_HUMAN Ectonucleoside triphosphate diphosphohydrolase 7 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 7 that is encoded in the genome of human.


name: AT10A_HUMAN Phospholipid-transporting ATPase VA (sprot)

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


A retinoid that is all-trans-retinol in which the hydrogens at position 4 have been replaced by an oxo group.


name: CEPT1_HUMAN Choline/ethanolaminephosphotransferase 1 (sprot)

description: A choline/ethanolaminephosphotransferase 1 that is encoded in the genome of human.


name: COE4_HUMAN Transcription factor COE4 (sprot)

description: A transcription factor COE4 that is encoded in the genome of human.


alcohol abuse

description: The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice.


name: T22D4_HUMAN TSC22 domain family protein 4 (sprot)

description: A TSC22 domain family protein 4 that is encoded in the genome of human.


AMN1_HUMAN Protein AMN1 homolog (sprot)

A protein AMN1 that is encoded in the genome of human.


PYGO1_HUMAN Pygopus homolog 1 (sprot)

A pygopus homolog 1 that is encoded in the genome of human.


CNFN_HUMAN Cornifelin (sprot)

A cornifelin that is encoded in the genome of human.


tolnaftate

A monothiocarbamic ester that is the methyl(3-tolyl)carbamothioate ester of 2-naphthol. A synthetic anti-fungal agent used to treat jock itch, athlete's foot and ringworm.


fibrodysplasia ossificans progressiva

description: Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.


name: constitutional megaloblastic anemia with severe neurologic disease


SULFAMATE

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


sulforaphane

An isothiocyanate having a 4-(methylsulfinyl)butyl group attached to the nitrogen.


DIHYDROXYACETONE

A ketotriose consisting of acetone bearing hydroxy substituents at positions 1 and 3. The simplest member of the class of ketoses and the parent of the class of glycerones.


name: GSHB_HUMAN Glutathione synthetase (sprot)

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


name: ATOSA_HUMAN Atos homolog protein A (sprot)

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


FLUCICLOVINE

A member of the class of cyclobutanes that is cyclobutane which carries a carboxy, amino and fluoro groups at positions 1, 1 and 3, respectively (the 1r,3r-stereoisomer).


name: S12A4_HUMAN Solute carrier family 12 member 4 (sprot)

description: A solute carrier family 12 member 4 that is encoded in the genome of human.


name: SIKE1_HUMAN Suppressor of IKBKE 1 (sprot)

description: A suppressor of IKK-epsilon that is encoded in the genome of human.


IFNE_HUMAN Interferon epsilon (sprot)

An interferon epsilon that is encoded in the genome of human.


name: LYG1_HUMAN Lysozyme g-like protein 1 (sprot)

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


name: TOX2_HUMAN TOX high mobility group box family member 2 (sprot)

description: A TOX high mobility group box family member 2 that is encoded in the genome of human.


name: COX14_HUMAN Cytochrome c oxidase assembly protein COX14 (sprot)

description: A cytochrome c oxidase assembly protein COX14 that is encoded in the genome of human.


name: FCMR_HUMAN Immunoglobulin mu Fc receptor (sprot)

description: An immunoglobulin mu Fc receptor that is encoded in the genome of human.


name: DOC11_HUMAN Dedicator of cytokinesis protein 11 (sprot)

description: A dedicator of cytokinesis protein 11 that is encoded in the genome of human.


Fanconi anemia complementation group A

description: Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.


LMOD3_HUMAN Leiomodin-3 (sprot)

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


name: TCF20_HUMAN Transcription factor 20 (sprot)

description: A transcription factor 20 that is encoded in the genome of human.


A member of the class of thiadiazoles that is 1,3,4-thiadiazol-2-amine which is substituted by a (5-nitro-1,3-thiazol-2-yl)sulfanediyl group at position 5. It is a c-Jun N-terminal kinase inhibitor (IC50 = 0.7uM) and exhibits antibacterial properties.


name: EBP2_HUMAN Probable rRNA-processing protein EBP2 (sprot)

description: A probable rRNA-processing protein EBP2 that is encoded in the genome of human.


name: HSDL2_HUMAN Hydroxysteroid dehydrogenase-like protein 2 (sprot)

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


UPK2_HUMAN Uroplakin-2 (sprot)

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


NODAL_HUMAN Nodal homolog (sprot)

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


polyp of colon

description: A polyp that involves the colon.


name: RGPA2_HUMAN Ral GTPase-activating protein subunit alpha-2 (sprot)

description: A Ral GTPase-activating protein subunit alpha-2 that is encoded in the genome of human.


miliary tuberculosis

description: I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.


Distal muscle weakness

description: Reduced strength of the musculature of the distal extremities.


name: TT21B_HUMAN Tetratricopeptide repeat protein 21B (sprot)

description: A tetratricopeptide repeat protein 21B that is encoded in the genome of human.


DACT3_HUMAN Dapper homolog 3 (sprot)

A dapper homolog 3 that is encoded in the genome of human.


mitochondrial encephalomyopathy

description: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)


thyroid hemiagenesis

description: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


name: AK1A1_HUMAN Aldo-keto reductase family 1 member A1 (sprot)

description: An aldo-keto reductase family 1 member A1 that is encoded in the genome of human.


name: STRAB_HUMAN STE20-related kinase adapter protein beta (sprot)

description: A STE20-related kinase adapter protein beta that is encoded in the genome of human.


DERL3_HUMAN Derlin-3 (sprot)

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


beta-ketothiolase deficiency

description: Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.


name: TNR17_HUMAN Tumor necrosis factor receptor superfamily member 17 (sprot)

description: A tumor necrosis factor receptor superfamily member 17 that is encoded in the genome of human.


name: FMO4_HUMAN Dimethylaniline monooxygenase [N-oxide-forming] 4 (sprot)

description: A dimethylaniline monooxygenase [N-oxide-forming] 4 that is encoded in the genome of human.


name: NOP10_HUMAN H/ACA ribonucleoprotein complex subunit 3 (sprot)

description: An H/ACA ribonucleoprotein complex subunit 3 that is encoded in the genome of human.


TETRACHLOROHYDROQUINONE

A tetrachlorobenzene that is 1,2,4,5-tetrachlorobenzene in which the hydrogens at positions 3 and 6 are replaced by hydroxy groups.


viral respiratory tract infection

description: A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.


Denys-Drash syndrome

description: Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.


testis rhabdomyosarcoma

description: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.


name: TAFA1_HUMAN Chemokine-like protein TAFA-1 (sprot)

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


name: U1SBP_HUMAN U11/U12 small nuclear ribonucleoprotein 35 kDa protein (sprot)

description: A U11/U12 small nuclear ribonucleoprotein 35 kDa protein that is encoded in the genome of human.


name: ARMX3_HUMAN Armadillo repeat-containing X-linked protein 3 (sprot)

description: An armadillo repeat-containing X-linked protein 3 that is encoded in the genome of human.


myofibrillar myopathy

description: Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.


sexually transmitted disease

description: A Disease due to or propagated by sexual contact.


MK_HUMAN Midkine (sprot)

A midkine that is encoded in the genome of human.


PHACE syndrome

description: PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.


BOLA3_HUMAN BolA-like protein 3 (sprot)

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


name: EEIG1_HUMAN Early estrogen-induced gene 1 protein (sprot)

description: An early estrogen-induced gene 1 protein that is encoded in the genome of human.


name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency

description: Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


coagulation protein disease

description: Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.


name: PAP1L_HUMAN Polyadenylate-binding protein 1-like (sprot)

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


name: MCSP_HUMAN Sperm mitochondrial-associated cysteine-rich protein (sprot)

description: A sperm mitochondrial-associated cysteine-rich protein that is encoded in the genome of human.


idiopathic anaphylaxis

description: Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.


name: THOC5_HUMAN THO complex subunit 5 homolog (sprot)

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


terreic acid

A 2-hydroxy-1,4-benzoquinone that is 5,6-epoxy. It is a natural product of Aspergillus terreus. It has an antibacterial activity explained by its inhibitory effect on bacterial enzymes MurA and GlmU. It is an inhibitor of Bruton's tyrosine kinase, and has an anti-tumoral activity against HeLa and EAC cells.


name: PIGT_HUMAN GPI transamidase component PIG-T (sprot)

description: A GPI transamidase component PIG-T that is encoded in the genome of human.


hypochondriasis

description: A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.


epi-maslinic acid

A pentacyclic triterpenoid that is 3alpha-hydroxy epimer of  maslinic acid. Isolated from  Prunella vulgaris and Isodon japonicus, it exhibits anti-inflammatory activity.


gardenoside

A cyclopentapyran that is 7-deoxyloganin with a methyl and hydrogen replaced by hydroxy and hydroxymethyl groups at position 7.


NRSN1_HUMAN Neurensin-1 (sprot)

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


NAV2_HUMAN Neuron navigator 2 (sprot)

A neuron navigator 2 that is encoded in the genome of human.


name: UPP_HUMAN Uracil phosphoribosyltransferase homolog (sprot)

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


Apical hypertrophic cardiomyopathy

description: Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.


Pendred syndrome

description: Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.


Erythroid hypoplasia

description: Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


benzthiazide

7-Sulfamoyl-1,2,4-benzothiadiazine 1,1-dioxide in which the hydrogen at position 6 is substituted by chlorine and that at position 3 is substituted by a benzylsulfanylmethyl group. A diuretic, it is used to treat hypertension and edema.


emetine dihydrochloride hydrate

A hydrate that is the monohydrate of the dihydrochloride salt of emetine.


name: CEP97_HUMAN Centrosomal protein of 97 kDa (sprot)

description: A centrosomal protein of 97 kDa that is encoded in the genome of human.


name: REP15_HUMAN Rab15 effector protein (sprot)

description: A Rab15 effector protein that is encoded in the genome of human.


TARSH_HUMAN Target of Nesh-SH3 (sprot)

A target of Nesh-SH3 that is encoded in the genome of human.


name: PA2GF_HUMAN Group IIF secretory phospholipase A2 (sprot)

description: A group IIF secretory phospholipase A2 that is encoded in the genome of human.


name: KV401_HUMAN Immunoglobulin kappa variable 4-1 (sprot)

description: A protein that is a translation product of the IGKV4-1 gene in human.


2-hydroxy-3-methylbutyric acid

A valine derivative that is valine in which the amino group has been replaced by a hydroxy group.


vilanterol

An dichlorobenzene derivative that is used in the form of its trifenate salt for treatment of chronic obstructive pulmonary disease.


craniofacial microsomia

description: A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.


hycanthone

A thioxanthen-9-one compound having a hydroxymethyl substituent at the 1-position and a 2-[(diethylamino)ethyl]amino substituent at the 4-position. It was formerly used (particularly as the monomethanesulfonic acid salt) as a schistosomicide for individual or mass treatement of infection with Schistosoma haematobium and S. mansoni, but due to its toxicity and concern about possible carcinogenicity, it has been replaced by other drugs such as praziquantel.


name: FCHO1_HUMAN F-BAR domain only protein 1 (sprot)

description: An F-BAR domain only protein 1 that is encoded in the genome of human.


name: KCNKC_HUMAN Potassium channel subfamily K member 12 (sprot)

description: A potassium channel subfamily K member 12 that is encoded in the genome of human.


Thymus hyperplasia

description: Enlargement of the thymus.


name: autosomal dominant familial periodic fever

description: A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.


rhabdoid meningioma

description: A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.


A member of the class of triazolopyridazines that is 6-(1-methylpyrazol-4-yl)[1,2,4]triazolo[4,3-b]pyridazine-3-thiol in which the thiol hydrogen is replaced by a quinolin-6-yl group.


CPNE2_HUMAN Copine-2 (sprot)

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


acid green 5

An organic sodium salt having 3-[(ethyl{4-[(4-{ethyl[(3-sulfonatophenyl)methyl]amino}phenyl)(4-sulfonatophenyl)methylidene]cyclohexa-2,5-dien-1-ylidene}azaniumyl)methyl]benzene-1-sulfonate as the counterion. It is the standard dye in North American for staining collagen and is also used extensively in plant histology.


papillary squamous carcinoma

description: A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.


name: UD2B4_HUMAN UDP-glucuronosyltransferase 2B4 (sprot)

description: A UDP-glucuronosyltransferase 2B4 that is encoded in the genome of human.


Primary microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender at birth.


name: GABT_HUMAN 4-aminobutyrate aminotransferase, mitochondrial (sprot)

description: A 4-aminobutyrate aminotransferase, mitochondrial that is encoded in the genome of human.


bladder leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: SKA2_HUMAN Spindle and kinetochore-associated protein 2 (sprot)

description: A spindle and kinetochore-associated protein 2 that is encoded in the genome of human.


non-gestational ovarian choriocarcinoma

description: A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.


name: PAR6G_HUMAN Partitioning defective 6 homolog gamma (sprot)

description: A partitioning defective 6 homolog gamma that is encoded in the genome of human.


name: SMG7_HUMAN Nonsense-mediated mRNA decay factor SMG7 (sprot)

description: A nonsense-mediated mRNA decay factor SMG7 that is encoded in the genome of human.


gingival cancer

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


fatal familial insomnia

description: Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.


coronary aneurysm

description: Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.


name: FCHO2_HUMAN F-BAR domain only protein 2 (sprot)

description: An F-BAR domain only protein 2 that is encoded in the genome of human.


DIPICOLINIC ACID

A pyridinedicarboxylic acid carrying two carboxy groups at positions 2 and 6.


MIGA1_HUMAN Mitoguardin 1 (sprot)

A mitoguardin 1 that is encoded in the genome of human.


MIGA2_HUMAN Mitoguardin 2 (sprot)

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


Fer-1-like protein 4 (human)

A Fer-1-like protein 4 that is encoded in the genome of human.


thapsigargin

An organic heterotricyclic compound that is a hexa-oxygenated 6,7-guaianolide isolated fron the roots of Thapsia garganica L., Apiaceae. A potent skin irritant, it is used in traditional medicine as a counter-irritant. Thapsigargin inhibits Ca(2+)-transporting ATPase mediated uptake of calcium ions into sarcoplasmic reticulum and is used in experimentation examining the impacts of increasing cytosolic calcium concentrations.


name: KCMF1_HUMAN E3 ubiquitin-protein ligase KCMF1 (sprot)

description: An E3 ubiquitin-protein ligase KCMF1 that is encoded in the genome of human.


name: RBMX_HUMAN RNA-binding motif protein, X chromosome (sprot)

description: An RNA-binding motif protein, X chromosome that is encoded in the genome of human.


name: GP1BB_HUMAN Platelet glycoprotein Ib beta chain (sprot)

description: A platelet glycoprotein Ib beta chain that is encoded in the genome of human.


granulomatous dermatitis

description: An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.


name: SPT12_HUMAN Spermatogenesis-associated protein 12 (sprot)

description: A spermatogenesis-associated protein 12 that is encoded in the genome of human.


name: S22AF_HUMAN Solute carrier family 22 member 15 (sprot)

description: A solute carrier family 22 member 15 that is encoded in the genome of human.


phosphatidylethanolamine (P-18:1/22:6)

A phosphatidylethanolamine P-40:7 in which the 1-alkenyl group contains 18 carbons and 1 additional double bond while the acyl group contains 22 carbons and 6 double bonds.


erythromycin ethyl succinate

A erythromycin derivative that is erythromycin A in which the hydroxy group at position 3R is substituted by a (4-ethoxy-4-oxobutanoyl)oxy group. It is used for the treatment of a wide variety of bacterial infections.


name: EXOS8_HUMAN Exosome complex component RRP43 (sprot)

description: An exosome complex component RRP43 that is encoded in the genome of human.


name: Decreased circulating vitamin B1 concentration

description: The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.


Osteochondroma

description: A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.


extra-adrenal sympathetic paraganglioma

description: A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.


astrocytic tumor

description: A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.


name: TUT4_HUMAN Terminal uridylyltransferase 4 (sprot)

description: A terminal uridylyltransferase 4 that is encoded in the genome of human.


ergoloid mesylates

A mixture of hydrogenated ergot alkaloids consisting of the methanesulfonic acid salts of dihydroergocornine (R = CHMe2), dihydroergocristine (R = CH2Ph), and alpha- and beta-dihydroergocryptine (R = CH2CHMe2 and CH(Me)Et, respectively). It is used for the symptomatic treatment of mild to moderate dementia in the elderly, although its value is not established.


minimally invasive lung adenocarcinoma

description: A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.


name: ODP2_HUMAN Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial (sprot)

description: A dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial that is encoded in the genome of human.


COF2_HUMAN Cofilin-2 (sprot)

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


DOORS syndrome

description: DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.


name: REEP5_HUMAN Receptor expression-enhancing protein 5 (sprot)

description: A receptor expression-enhancing protein 5 that is encoded in the genome of human.


name: G6PC2_HUMAN Glucose-6-phosphatase 2 (sprot)

description: A glucose-6-phosphatase 2 that is encoded in the genome of human.


squamous cell intraepithelial neoplasia

description: A precancerous neoplastic intraepithelial process involving the squamous epithelium.


paliperidone palmitate

A racemate comprising equimolar amounts of (R)- and (S)-paliperidone palmitate. A long-acting injectable formulation of paliperidone (the major active metabolite of risperidone) that is used for treatment of schizophrenia.


Lingual dystonia

description: Involuntary protrusions, movements, spams and contortions of the tongue.


name: PIGW_HUMAN Phosphatidylinositol-glycan biosynthesis class W protein (sprot)

description: A phosphatidylinositol-glycan biosynthesis class W protein that is encoded in the genome of human.


name: TAF1A_HUMAN TATA box-binding protein-associated factor RNA polymerase I subunit A (sprot)

description: A TATA box-binding protein-associated factor RNA polymerase I subunit A that is encoded in the genome of human.


name: ZBT41_HUMAN Zinc finger and BTB domain-containing protein 41 (sprot)

description: A zinc finger and BTB domain-containing protein 41 that is encoded in the genome of human.


Adrenal hypoplasia

description: Developmental hypoplasia of the adrenal glands.


SEMG1_HUMAN Semenogelin-1 (sprot)

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


name: GALT8_HUMAN Probable polypeptide N-acetylgalactosaminyltransferase 8 (sprot)

description: A probable polypeptide N-acetylgalactosaminyltransferase 8 that is encoded in the genome of human.


tubular aggregate myopathy

description: Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.


name: SP130_HUMAN Histone deacetylase complex subunit SAP130 (sprot)

description: A histone deacetylase complex subunit SAP130 that is encoded in the genome of human.


name: HARB1_HUMAN Putative nuclease HARBI1 (sprot)

description: A putative nuclease HARBI1 that is encoded in the genome of human.


name: ZN326_HUMAN DBIRD complex subunit ZNF326 (sprot)

description: A DBIRD complex subunit ZNF326 that is encoded in the genome of human.


Meniere disease

description: A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.


Hypoglycemic encephalopathy

description: Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.


TOR1A_HUMAN Torsin-1A (sprot)

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


chondrodysplasia punctata

description: A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.


name: 2A5G_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform (sprot)

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


Chronic metabolic acidosis

description: Longstanding metabolic acidosis.


name: Atrophy/Degeneration affecting the brainstem


Hirschsprung disease

description: Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.


name: ASB16_HUMAN Ankyrin repeat and SOCS box protein 16 (sprot)

description: An ankyrin repeat and SOCS box protein 16 that is encoded in the genome of human.


3-(3-hydroxyphenyl)propanoic acid

A monocarboxylic acid that is propionic acid carrying a 3-hydroxyphenyl substituent at C-3.


hereditary palmoplantar keratoderma

description: An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.


name: CHSS2_HUMAN Chondroitin sulfate synthase 2 (sprot)

description: A chondroitin sulfate synthase 2 that is encoded in the genome of human.


congenital dyserythropoietic anemia

description: Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.


name: PRKX_HUMAN cAMP-dependent protein kinase catalytic subunit PRKX (sprot)

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


name: ACS2A_HUMAN Acyl-coenzyme A synthetase ACSM2A, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM2A, mitochondrial that is encoded in the genome of human.


MTX1_HUMAN Metaxin-1 (sprot)

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


name: TBC3E_HUMAN TBC1 domain family member 3E (sprot)

description: A protein that is a translation product of the TBC1D3E gene in human.


name: NSE1_HUMAN Non-structural maintenance of chromosomes element 1 homolog (sprot)

description: A non-structural maintenance of chromosomes element 1 that is encoded in the genome of human.


name: TIM44_HUMAN Mitochondrial import inner membrane translocase subunit TIM44 (sprot)

description: A mitochondrial import inner membrane translocase subunit TIM44 that is encoded in the genome of human.


canine transmissible venereal tumor

description: A sexually transmitted tumor arising from histiocytes and occurring in dogs.


Eyelid erythema

description: Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.


FSD1L_HUMAN FSD1-like protein (sprot)

An FSD1-like protein that is encoded in the genome of human.


name: BRNP3_HUMAN BMP/retinoic acid-inducible neural-specific protein 3 (sprot)

description: A BMP/retinoic acid-inducible neural-specific protein 3 that is encoded in the genome of human.


name: diffuse infiltrative lymphocytosis syndrome

description: This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.


name: RHG12_HUMAN Rho GTPase-activating protein 12 (sprot)

description: A Rho GTPase-activating protein 12 that is encoded in the genome of human.


name: GOLI4_HUMAN Golgi integral membrane protein 4 (sprot)

description: A Golgi integral membrane protein 4 that is encoded in the genome of human.


NPM3_HUMAN Nucleoplasmin-3 (sprot)

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


name: SYWM_HUMAN Tryptophan--tRNA ligase, mitochondrial (sprot)

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


3-hydroxyisovaleric acid

A 3-hydroxy monocarboxylic acid that is isovaleric acid substituted at position 3 by a hydroxy group. Used as indicator of biotin deficiency.


name: I27L2_HUMAN Interferon alpha-inducible protein 27-like protein 2 (sprot)

description: An interferon alpha-inducible protein 27-like protein 2 that is encoded in the genome of human.


name: progressive relapsing multiple sclerosis

description: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.


relapsing polychondritis

description: A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.


name: CNIH2_HUMAN Protein cornichon homolog 2 (sprot)

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


okanin

A member of the class of  chalcones that is  trans-chalcone substituted by hydroxy groups at positions 3, 4, 2', 3', and 4' respectively.


oxalosuccinic acid

A tricarboxylic acid consisting of 2-oxoglutaric acid having a further carboxy group at the 3-position. It is a substrate of the citric acid cycle.


cirrhosis, familial

description: Cirrhosis in which no causative agent can be identified.


name: PIMT_HUMAN Protein-L-isoaspartate(D-aspartate) O-methyltransferase (sprot)

description: A protein-L-isoaspartate(D-aspartate) O-methyltransferase that is encoded in the genome of human.


name: DPOA2_HUMAN DNA polymerase alpha subunit B (sprot)

description: A DNA polymerase alpha subunit B that is encoded in the genome of human.


name: PPIL4_HUMAN Peptidyl-prolyl cis-trans isomerase-like 4 (sprot)

description: A peptidyl-prolyl cis-trans isomerase-like 4 that is encoded in the genome of human.


name: IGFL3_HUMAN Insulin growth factor-like family member 3 (sprot)

description: An insulin growth factor-like family member 3 that is encoded in the genome of human.


hydroflumethiazide

A benzothiadiazine consisting of a 3,4-dihydro-HH-1,2,4-benzothiadiazine bicyclic system dioxygenated on sulfur and carrying trifluoromethyl and aminosulfonyl groups at positions 6 and 7 respectively. A diuretic with actions and uses similar to those of hydrochlorothiazide.


periodic fever syndrome

description: Fevers of unknown etiology recurring over months or years.


pleural tuberculosis

description: Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.


ABH15_HUMAN Protein ABHD15 (sprot)

A protein ABHD15 that is encoded in the genome of human.


pivmecillinam

A penicillanic acid ester that is the [(2,2-dimethylpropanoyl)oxy]methyl ester and prodrug of mecillinam.


sulfaethoxypyridazine

A sulfonamide consisting of 6-ethoxypyridazine with a 4-aminobenzenesulfonamido group at the 3-position. Generally licensed for veterinary use only against bacterial infections, such as fowl cholera and salmonella infection.


name: TRMB_HUMAN tRNA (guanine-N(7)-)-methyltransferase (sprot)

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


Miller Fisher syndrome

description: An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.


citraconic acid

A dicarboxylic acid consisting of maleic acid having a methyl substituent at the 2-position.


name: F111B_HUMAN Serine protease FAM111B (sprot)

description: A serine protease FAM111B that is encoded in the genome of human.


name: FPR3_HUMAN N-formyl peptide receptor 3 (sprot)

description: An N-formyl peptide receptor 3 that is encoded in the genome of human.


name: CFDP1_HUMAN Craniofacial development protein 1 (sprot)

description: A craniofacial development protein 1 that is encoded in the genome of human.


citrullinemia type I

description: Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).


name: ERI3_HUMAN ERI1 exoribonuclease 3 (sprot)

description: An ERI1 exoribonuclease 3 that is encoded in the genome of human.


ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.


name: NOBOX_HUMAN Homeobox protein NOBOX (sprot)

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


name: ADAT3_HUMAN Probable inactive tRNA-specific adenosine deaminase-like protein 3 (sprot)

description: A tRNA-specific adenosine deaminase-like protein 3 that is encoded in the genome of human.


tocainide

A monocarboxylic acid amide in which 2,6-dimethylphenylaniline and isobutyric acid have combined to form the amide bond; used as a local anaesthetic.


name: IP6K3_HUMAN Inositol hexakisphosphate kinase 3 (sprot)

description: An inositol hexakisphosphate kinase 3 that is encoded in the genome of human.


name: KDIS_HUMAN Kinase D-interacting substrate of 220 kDa (sprot)

description: A kinase D-interacting substrate of 220 kDa that is encoded in the genome of human.


name: PDE4C_HUMAN 3',5'-cyclic-AMP phosphodiesterase 4C (sprot)

description: A 3',5'-cyclic-AMP phosphodiesterase 4C that is encoded in the genome of human.


name: ADAL_HUMAN Adenosine deaminase-like protein (sprot)

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


name: PRS37_HUMAN Probable inactive serine protease 37 (sprot)

description: A probable inactive serine protease 37 that is encoded in the genome of human.


name: AT7L3_HUMAN Ataxin-7-like protein 3 (sprot)

description: An ataxin-7-like protein 3 that is encoded in the genome of human.


Fetal anomaly

description: Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.


Asperger syndrome

description: A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.


ISONICOTINIC ACID

A pyridinemonocarboxylic acid in which the carboxy group is at position 4 of the pyridine ring.


name: SIG14_HUMAN Sialic acid-binding Ig-like lectin 14 (sprot)

description: A sialic acid-binding Ig-like lectin 14 that is encoded in the genome of human.


Class I obesity

description: Obesity with a body mass index of 30 to 34.9 kg per square meter.


name: CT459_HUMAN Cancer/testis antigen family 45 member A9 (sprot)

description: A protein that is a translation product of the CT45A9 gene in human.


name: FXYD7_HUMAN FXYD domain-containing ion transport regulator 7 (sprot)

description: An FXYD domain-containing ion transport regulator 7 that is encoded in the genome of human.


potassium phosphate, dibasic

A potassium salt that is the dipotassium salt of phosphoric acid.


name: RLA1_HUMAN Large ribosomal subunit protein P1 (sprot)

description: A large ribosomal subunit protein P1 that is encoded in the genome of human.


name: S35B4_HUMAN Nucleotide sugar transporter SLC35B4 (sprot)

description: A nucleotide sugar transporter SLC35B4 that is encoded in the genome of human.


cytochrome-c oxidase deficiency disease

description: A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


name: PHLB1_HUMAN Pleckstrin homology-like domain family B member 1 (sprot)

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


The alpha-anomer of D-mannose 6-phosphate.


name: TXD11_HUMAN Thioredoxin domain-containing protein 11 (sprot)

description: A thioredoxin domain-containing protein 11 that is encoded in the genome of human.


name: SGF29_HUMAN SAGA-associated factor 29 (sprot)

description: A SAGA-associated factor 29 that is encoded in the genome of human.


name: TTYH1_HUMAN Protein tweety homolog 1 (sprot)

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


name: UN45B_HUMAN Protein unc-45 homolog B (sprot)

description: A protein unc-45 homolog B that is encoded in the genome of human.


name: LRC33_HUMAN Transforming growth factor beta activator LRRC33 (sprot)

description: A transforming growth factor beta activator LRRC33 that is encoded in the genome of human.


name: COQ5_HUMAN 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial (sprot)

description: A 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial that is encoded in the genome of human.


name: TRIML_HUMAN Probable E3 ubiquitin-protein ligase TRIML1 (sprot)

description: A probable E3 ubiquitin-protein ligase TRIML1 that is encoded in the genome of human.


ASCOMYCIN

A macrolide that is produced by the fermentation of Streptomyces hygroscopicus and exhibits strong immunosuppressant properties.


name: STK10_HUMAN Serine/threonine-protein kinase 10 (sprot)

description: A serine/threonine-protein kinase 10 that is encoded in the genome of human.


name: TAGAP_HUMAN T-cell activation Rho GTPase-activating protein (sprot)

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


XANTHONE

The parent compound of the xanthone class consisting of xanthene bearing a single oxo substituent at position 9.


name: CENPR_HUMAN Centromere protein R (sprot)

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


name: DJB11_HUMAN DnaJ homolog subfamily B member 11 (sprot)

description: A DnaJ homolog subfamily B member 11 that is encoded in the genome of human.


name: CTF18_HUMAN Chromosome transmission fidelity protein 18 homolog (sprot)

description: A chromosome transmission fidelity protein 18 that is encoded in the genome of human.


name: DCC1_HUMAN Sister chromatid cohesion protein DCC1 (sprot)

description: A sister chromatid cohesion protein DCC1 that is encoded in the genome of human.


parotid gland neoplasm

description: A neoplasm (disease) that involves the parotid gland.


name: UXS1_HUMAN UDP-glucuronic acid decarboxylase 1 (sprot)

description: A UDP-glucuronic acid decarboxylase 1 that is encoded in the genome of human.


polyostotic fibrous dysplasia

description: Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.


name: KNTC1_HUMAN Kinetochore-associated protein 1 (sprot)

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


name: TPRA1_HUMAN Transmembrane protein adipocyte-associated 1 (sprot)

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


name: GIMA1_HUMAN GTPase IMAP family member 1 (sprot)

description: A GTPase IMAP family member 1 that is encoded in the genome of human.


Ketotic hypoglycemia

description: Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


placental site trophoblastic tumor

description: Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.


EVL_HUMAN Ena/VASP-like protein (sprot)

An ena/VASP-like protein that is encoded in the genome of human.


Rickettsiosis

description: A group of infectious diseases that is caused by Rickettsia.


name: CLAT_HUMAN Choline O-acetyltransferase (sprot)

description: A choline O-acetyltransferase that is encoded in the genome of human.


name: ATG2B_HUMAN Autophagy-related protein 2 homolog B (sprot)

description: An autophagy-related protein 2 homolog B that is encoded in the genome of human.


hereditary angioedema type 1

description: Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: VSIG8_HUMAN V-set and immunoglobulin domain-containing protein 8 (sprot)

description: A V-set and immunoglobulin domain-containing protein 8 that is encoded in the genome of human.


name: renal pelvis/ureter urothelial carcinoma

description: A transitional cell carcinoma that arises from the renal pelvis and ureter.


name: CLP1L_HUMAN Lipid scramblase CLPTM1L (sprot)

description: A lipid scramblase CLPTM1L that is encoded in the genome of human.


name: KCNK7_HUMAN Potassium channel subfamily K member 7 (sprot)

description: A potassium channel subfamily K member 7 that is encoded in the genome of human.


organochlorine compound

An organochlorine compound is a compound containing at least one carbon-chlorine bond.


Generalized hypertrichosis

description: Generalized excessive, abnormal hairiness.