Crypt hyperplasia

description: Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling.


name: PLAK2_HUMAN PALM2-AKAP2 fusion protein (sprot)

description: A PALM2-AKAP2 fusion protein that is encoded in the genome of human.


name: NRAM1_HUMAN Natural resistance-associated macrophage protein 1 (sprot)

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


Abnormal metabolism

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

description: An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


name: AT5G1_HUMAN ATP synthase F(0) complex subunit C1, mitochondrial (sprot)

description: An ATP synthase F(0) complex subunit C1, mitochondrial that is encoded in the genome of human.


name: SCFD1_HUMAN Sec1 family domain-containing protein 1 (sprot)

description: A Sec1 family domain-containing protein 1 that is encoded in the genome of human.


MPV17_HUMAN Protein Mpv17 (sprot)

A protein Mpv17 that is encoded in the genome of human.


typhoid fever

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

description: A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.


name: CP250_HUMAN Centrosome-associated protein CEP250 (sprot)

description: A centrosome-associated protein CEP250 that is encoded in the genome of human.


name: AADAT_HUMAN Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial (sprot)

description: A kynurenine/alpha-aminoadipate aminotransferase, mitochondrial that is encoded in the genome of human.


nasal cavity squamous cell carcinoma

description: A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.


name: benign adult familial myoclonic epilepsy

description: Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.


name: infiltrating bladder urothelial carcinoma

description: An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.


coccidiosis

description: A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.


N-acetyl-alpha-D-galactosamine

An N-acetyl-D-galactosamine having alpha-configuration at the anomeric centre.


TKT_HUMAN Transketolase (sprot)

A transketolase that is encoded in the genome of human.


chlorquinaldol

A monohydroxyquinoline that is quinolin-8-ol which is substituted by a methyl group at position 2 and by chlorine at positions 5 and 7. An antifungal and antibacterial, it was formerly used for topical treatment of skin conditions and vaginal infections.


incontinentia pigmenti

description: Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).


Noonan syndrome

description: Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.


name: RHG44_HUMAN Rho GTPase-activating protein 44 (sprot)

description: A Rho GTPase-activating protein 44 that is encoded in the genome of human.


name: KIRR1_HUMAN Kin of IRRE-like protein 1 (sprot)

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


name: CRCT1_HUMAN Cysteine-rich C-terminal protein 1 (sprot)

description: A cysteine-rich C-terminal protein 1 that is encoded in the genome of human.


mirodenafil

A member of the class of pyrrolopyrimidines that is 3,5-dihydro-4H-pyrrolo[3,2-d]pyrimidin-4-one having a 5-{[4-(2-hydroxyethyl)piperazin-1-yl]sulfonyl}-2-propoxyphenyl group at positon 2, ethyl group at position 5, and a propyl group at position 7. It is a phosphodiesterase type 5 inhibitor which is used for the treatment of erectile dysfunction.


name: SEPT3_HUMAN Neuronal-specific septin-3 (sprot)

description: A neuronal-specific septin-3 that is encoded in the genome of human.


name: KCNC4_HUMAN Potassium voltage-gated channel subfamily C member 4 (sprot)

description: A voltage-gated potassium channel KCNC4 that is encoded in the genome of human.


name: ATPG_HUMAN ATP synthase subunit gamma, mitochondrial (sprot)

description: An ATP synthase subunit gamma, mitochondrial that is encoded in the genome of human.


NEUR3_HUMAN Sialidase-3 (sprot)

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


Pulmonary fat embolism

description: The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.


name: SPT5H_HUMAN Transcription elongation factor SPT5 (sprot)

description: A transcription elongation factor SPT5 that is encoded in the genome of human.


name: LY66F_HUMAN Lymphocyte antigen 6 complex locus protein G6f (sprot)

description: A lymphocyte antigen 6 complex locus protein G6f that is encoded in the genome of human.


sulfanilamide

A sulfonamide in which the sulfamoyl functional group is attached to aniline at the 4-position.


name: GPDM_HUMAN Glycerol-3-phosphate dehydrogenase, mitochondrial (sprot)

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


name: NDUA3_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 that is encoded in the genome of human.


name: TCEA3_HUMAN Transcription elongation factor A protein 3 (sprot)

description: A transcription elongation factor A protein 3 that is encoded in the genome of human.


name: PSB5_HUMAN Proteasome subunit beta type-5 (sprot)

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


name: PSB7_HUMAN Proteasome subunit beta type-7 (sprot)

description: A proteasome subunit beta type-7 that is encoded in the genome of human.


name: LZTR1_HUMAN Leucine-zipper-like transcriptional regulator 1 (sprot)

description: A leucine-zipper-like transcriptional regulator 1 that is encoded in the genome of human.


name: MSRA_HUMAN Mitochondrial peptide methionine sulfoxide reductase (sprot)

description: A peptide methionine sulfoxide reductase that is encoded in the genome of human.


AMPD2_HUMAN AMP deaminase 2 (sprot)

An AMP deaminase 2 that is encoded in the genome of human.


name: ATOH7_HUMAN Transcription factor ATOH7 (sprot)

description: A transcription factor ATOH7 that is encoded in the genome of human.


name: SRP72_HUMAN Signal recognition particle subunit SRP72 (sprot)

description: A signal recognition particle subunit SRP72 that is encoded in the genome of human.


fludarabine phosphate

A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. A prodrug, it is rapidly dephosphorylated to 2-fluoro-ara-A and then phosphorylated intracellularly by deoxycytidine kinase to the active triphosphate, 2-fluoro-ara-ATP. Once incorporated into DNA, 2-fluoro-ara-ATP functions as a DNA chain terminator. It is used for the treatment of adult patients with B-cell chronic lymphocytic leukemia (CLL) who have not responded to, or whose disease has progressed during, treatment with at least one standard alkylating-agent containing regimenas.


epidermodysplasia verruciformis

description: A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.


name: early-onset generalized limb-onset dystonia

description: A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.


name: ZP3_HUMAN Zona pellucida sperm-binding protein 3 (sprot)

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


name: KV105_HUMAN Immunoglobulin kappa variable 1-5 (sprot)

description: A protein that is a translation product of the IGKV1-5 gene in human.


name: epidermolysis bullosa simplex 5B, with muscular dystrophy

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.


name: BRD1_HUMAN Bromodomain-containing protein 1 (sprot)

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


name: OBRG_HUMAN Leptin receptor gene-related protein (sprot)

description: A leptin receptor gene-related protein that is encoded in the genome of human.


name: LERL1_HUMAN Leptin receptor overlapping transcript-like 1 (sprot)

description: A leptin receptor overlapping transcript-like 1 that is encoded in the genome of human.


WNT2B_HUMAN Protein Wnt-2b (sprot)

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


dantrolene sodium (anhydrous)

The anhydrous sodium salt of dantrolene.


name: TNR27_HUMAN Tumor necrosis factor receptor superfamily member 27 (sprot)

description: A tumor necrosis factor receptor superfamily member 27 that is encoded in the genome of human.


name: NUDC2_HUMAN NudC domain-containing protein 2 (sprot)

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


neonatal diabetes mellitus

description: Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.


tipiracil

A member of the class of pyrimidones that is uracil substituted by chloro and (2-iminopyrrolidin-1-yl)methyl groups at positions 5 and 6 respectively. Used (as the hydrochloride salt) in combination with trifluridine, a nucleoside metabolic inhibitor, for treatment of advanced/relapsed unresectable colorectal cancer.


otitis externa

description: Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.


name: RNAS2_HUMAN Non-secretory ribonuclease (sprot)

description: A non-secretory ribonuclease that is encoded in the genome of human.


name: RBCC1_HUMAN RB1-inducible coiled-coil protein 1 (sprot)

description: An RB1-inducible coiled-coil protein 1 that is encoded in the genome of human.


name: ZRAB3_HUMAN DNA annealing helicase and endonuclease ZRANB3 (sprot)

description: A DNA annealing helicase and endonuclease ZRANB3 that is encoded in the genome of human.


name: PKHA2_HUMAN Pleckstrin homology domain-containing family A member 2 (sprot)

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


SPT2_HUMAN Protein SPT2 homolog (sprot)

A protein SPT2 that is encoded in the genome of human.


METHAMIDOPHOS

An organic thiophosphate resulting from the N-deacylation of the proinsecticide acephate.


epididymitis

description: Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.


name: ZCCHV_HUMAN Zinc finger CCCH-type antiviral protein 1 (sprot)

description: A zinc finger CCCH-type antiviral protein 1 that is encoded in the genome of human.


ALFADEX

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


name: undifferentiated high grade pleomorphic sarcoma of bone

description: A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.


MTLR_HUMAN Motilin receptor (sprot)

A motilin receptor that is encoded in the genome of human.


Severe viral infection

description: An unusually severe viral infection.


fluvastatin

A racemate comprising equimolar amounts of (3R,5S)- and (3S,5R)-fluvastatin. An HMG-CoA reductase inhibitor, it is used (often as the corresponding sodium salt) to reduce triglycerides and LDL-cholesterol, and increase HDL-chloesterol, in the treatment of hyperlipidaemia.


name: NIPBL_HUMAN Nipped-B-like protein (sprot)

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


name: MFAP4_HUMAN Microfibril-associated glycoprotein 4 (sprot)

description: A microfibril-associated glycoprotein 4 that is encoded in the genome of human.


name: ZNT5_HUMAN Proton-coupled zinc antiporter SLC30A5 (sprot)

description: A proton-coupled zinc antiporter SLC30A5 that is encoded in the genome of human.


name: FCGRN_HUMAN IgG receptor FcRn large subunit p51 (sprot)

description: An IgG receptor FcRn large subunit p51 that is encoded in the genome of human.


name: APLP2_HUMAN Amyloid beta precursor like protein 2 (sprot)

description: An amyloid beta precursor like protein 2 that is encoded in the genome of human.


name: CE027_HUMAN Putative uncharacterized protein encoded by LINC01554 (sprot)

description: A protein that is a translation product of the LINC01554 gene in human.


name: SPT4H_HUMAN Transcription elongation factor SPT4 (sprot)

description: A transcription elongation factor SPT4 that is encoded in the genome of human.


name: ATS2_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 2 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 2 that is encoded in the genome of human.


PLLP_HUMAN Plasmolipin (sprot)

A plasmolipin that is encoded in the genome of human.


name: MCFD2_HUMAN Multiple coagulation factor deficiency protein 2 (sprot)

description: A multiple coagulation factor deficiency protein 2 that is encoded in the genome of human.


name: PARP8_HUMAN Protein mono-ADP-ribosyltransferase PARP8 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP8 that is encoded in the genome of human.


name: MFA3L_HUMAN Microfibrillar-associated protein 3-like (sprot)

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


name: GNL1_HUMAN Guanine nucleotide-binding protein-like 1 (sprot)

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


swayback

description: Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)


name: ZF64B_HUMAN Zinc finger protein 64 (sprot)

description: A zinc finger protein 64 that is encoded in the genome of human.


name: CBX6_HUMAN Chromobox protein homolog 6 (sprot)

description: A chromobox protein homolog 6 that is encoded in the genome of human.


diabetic embryopathy

description: Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.


name: MAGC3_HUMAN Melanoma-associated antigen C3 (sprot)

description: A melanoma-associated antigen C3 that is encoded in the genome of human.


name: FBXL7_HUMAN F-box/LRR-repeat protein 7 (sprot)

description: An F-box/LRR-repeat protein 7 that is encoded in the genome of human.


Lower limb muscle weakness

description: Weakness of the muscles of the legs.


name: CYTL1_HUMAN Cytokine-like protein 1 (sprot)

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


name: POTEF_HUMAN POTE ankyrin domain family member F (sprot)

description: A POTE ankyrin domain family member F that is encoded in the genome of human.


canine prostate carcinoma

description: A malignant epithelial neoplasm arising from the prostate gland of a dog.


PYRIDOXINE HYDROCHLORIDE

The hydrochloride salt of pyridoxine.


name: DCPS_HUMAN m7GpppX diphosphatase (sprot)

description: A scavenger mRNA-decapping enzyme DcpS that is encoded in the genome of human.


ETHANEPEROXOIC ACID

A peroxy acid that is acetic acid in which the OH group is substituted by a hydroperoxy group. It is a versatile oxidising agent that is used as a disinfectant.


ovarian endometriosis

description: A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.


A divalent inorganic anion obtained by removal of both protons from dichromic acid.


name: ATG2A_HUMAN Autophagy-related protein 2 homolog A (sprot)

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


Limb ataxia

description: A kind of ataxia that affects movements of the extremities.


RNH1_HUMAN Ribonuclease H1 (sprot)

A ribonuclease H1 that is encoded in the genome of human.


name: PDE11_HUMAN Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (sprot)

description: A dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A that is encoded in the genome of human.


Epicanthus inversus

description: A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.


name: WIPI4_HUMAN WD repeat domain phosphoinositide-interacting protein 4 (sprot)

description: A WD repeat domain phosphoinositide-interacting protein 4 that is encoded in the genome of human.


name: GPSM1_HUMAN G-protein-signaling modulator 1 (sprot)

description: A G-protein-signaling modulator 1 that is encoded in the genome of human.


name: ATPMK_HUMAN ATP synthase membrane subunit K, mitochondrial (sprot)

description: An ATP synthase membrane subunit K, mitochondrial that is encoded in the genome of human.


name: DLRB2_HUMAN Dynein light chain roadblock-type 2 (sprot)

description: A dynein light chain roadblock-type 2 that is encoded in the genome of human.


Pharyngeal edema

description: Abnormal accumulation of fluid leading to swelling of the pharynx.


name: DIAP2_HUMAN Protein diaphanous homolog 2 (sprot)

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


name: YETS2_HUMAN YEATS domain-containing protein 2 (sprot)

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


name: MLF1_HUMAN Myeloid leukemia factor 1 (sprot)

description: A myeloid leukemia factor 1 that is encoded in the genome of human.


name: PEX2_HUMAN Peroxisome biogenesis factor 2 (sprot)

description: A peroxisome assembly factor 1 that is encoded in the genome of human.


vaccenic acid

An octadecenoic acid having a double bond at position 11; and which can occur in cis- or trans- configurations.


TTP

A thymidine phosphate having a triphosphate group at the 5'-position.


description: A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.


name: PTN5_HUMAN Tyrosine-protein phosphatase non-receptor type 5 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 5 that is encoded in the genome of human.


name: FCSD1_HUMAN F-BAR and double SH3 domains protein 1 (sprot)

description: An F-BAR and double SH3 domains protein 1 that is encoded in the genome of human.


PRC2A_HUMAN Protein PRRC2A (sprot)

A large proline-rich protein BAT2 that is encoded in the genome of human.


Erdheim-Chester disease

description: Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.


name: CAPS2_HUMAN Calcium-dependent secretion activator 2 (sprot)

description: A calcium-dependent secretion activator 2 that is encoded in the genome of human.


gadoteridol

A non-ionic gadolinium chelate having a macrocyclic tetraamine framework. It is used as a paramagnetic contrast agent in magnetic resonance imaging (MRI).


cobicistat

A monocarboxylic acid amide obtained by formal condensation of the carboxy group of (2S)-2-({[(2-isopropyl-1,3-thiazol-4-yl)methyl](methyl)carbamoyl}amino)-4-(morpholin-4-yl)butanoic acid with the amino group of 1,3-thiazol-5-ylmethyl [(2R,5R)-5-amino-1,6-diphenylhexan-2-yl]carbamate. Acts as a pharmacoenhancer in treatment of HIV-1 by inhibiting P450 enzymes that metabolise other medications..


name: LRC55_HUMAN Leucine-rich repeat-containing protein 55 (sprot)

description: A leucine-rich repeat-containing protein 55 that is encoded in the genome of human.


Acinetobacter infectious disease

description: Infections with bacteria of the genus acinetobacter.


name: PSME2_HUMAN Proteasome activator complex subunit 2 (sprot)

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


THMS1_HUMAN Protein THEMIS (sprot)

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


nirogacestat

A member of the class of imidazoles that is 1H-imidazole substituted by a 1-[(2,2-dimethylpropyl)amino]-2-methylpropan-2-yl group at position 1 and a {N-[(2S)-6,8-difluoro-1,2,3,4-tetrahydronaphthalen-2-yl]-L-norvalyl}amino group at position 4. It is a gamma-secretase inhibitor whose hydrobromide salt is indicated for adult patients with progressing desmoid tumours who require systemic treatment.


name: NEU1B_HUMAN E3 ubiquitin-protein ligase NEURL1B (sprot)

description: An E3 ubiquitin-protein ligase NEURL1B that is encoded in the genome of human.


geranyl acetone

A monoterpene ketone in which an (E)-geranyl group is bonded to one of the alpha-methyls of acetone. It is a component of essential oils from various plants including  Nelumbo nucifera.


factor XIII deficiency

description: An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.


ovarian germ cell tumor

description: A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.


name: CIDEC_HUMAN Lipid transferase CIDEC (sprot)

description: A lipid transferase CIDEC that is encoded in the genome of human.


bupivacaine hydrochloride (anhydrous)

A racemate composed of equimolar amounts of dextrobupivacaine hydrochloride and levobupivacaine hydrochloride. The monohydrate form is commonly used as a local anaesthetic.


cyanin chloride

A member of the class of anthocyanin chlorides that has cyanin cation as the cationic counterpart.


name: IRPL2_HUMAN X-linked interleukin-1 receptor accessory protein-like 2 (sprot)

description: An X-linked interleukin-1 receptor accessory protein-like 2 that is encoded in the genome of human.


name: METL8_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial (sprot)

description: A tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial that is encoded in the genome of human.


name: RM12_HUMAN Large ribosomal subunit protein bL12m (sprot)

description: A large ribosomal subunit protein bL12m that is encoded in the genome of human.


name: EPDR1_HUMAN Mammalian ependymin-related protein 1 (sprot)

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


name: MTA2_HUMAN Metastasis-associated protein MTA2 (sprot)

description: A metastasis-associated protein MTA2 that is encoded in the genome of human.


name: SPAG6_HUMAN Sperm-associated antigen 6 (sprot)

description: A sperm-associated antigen 6 that is encoded in the genome of human.


name: RPAC1_HUMAN DNA-directed RNA polymerases I and III subunit RPAC1 (sprot)

description: A DNA-directed RNA polymerases I and III subunit RPAC1 that is encoded in the genome of human.


name: FGF17_HUMAN Fibroblast growth factor 17 (sprot)

description: A fibroblast growth factor 17 that is encoded in the genome of human.


name: CTDS1_HUMAN Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 (sprot)

description: A carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 that is encoded in the genome of human.


cancer-associated retinopathy

description: Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.


hairy cell leukemia variant

description: Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).


name: SUSD2_HUMAN Sushi domain-containing protein 2 (sprot)

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


abdominal tuberculosis

description: An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.


name: PRR9_HUMAN Proline-rich protein 9 (sprot)

description: A proline-rich protein 9 that is encoded in the genome of human.


endophthalmitis

description: An infectious process affecting the internal structures of the eye.


name: FXYD5_HUMAN FXYD domain-containing ion transport regulator 5 (sprot)

description: An FXYD domain-containing ion transport regulator 5 that is encoded in the genome of human.


name: PHF14_HUMAN PHD finger protein 14 (sprot)

description: A PHD finger protein 14 that is encoded in the genome of human.


borderline epithelial tumor of ovary

description: A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.


familial lipoprotein lipase deficiency

description: Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.


name: MECR_HUMAN Enoyl-[acyl-carrier-protein] reductase, mitochondrial (sprot)

description: An enoyl-[acyl-carrier-protein] reductase, mitochondrial that is encoded in the genome of human.


name: LGI3_HUMAN Leucine-rich repeat LGI family member 3 (sprot)

description: A leucine-rich repeat LGI family member 3 that is encoded in the genome of human.


osteosclerosis

description: Abnormally high bone density.


name: CRDL2_HUMAN Chordin-like protein 2 (sprot)

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


name: EST1A_HUMAN Telomerase-binding protein EST1A (sprot)

description: A telomerase-binding protein EST1A that is encoded in the genome of human.


ARSB_HUMAN Arylsulfatase B (sprot)

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


extraosseous osteosarcoma

description: An osteosarcoma arising from the soft tissue.


name: CNGA1_HUMAN Cyclic nucleotide-gated channel alpha-1 (sprot)

description: A cGMP-gated cation channel alpha-1 that is encoded in the genome of human.


name: KCRM_HUMAN Creatine kinase M-type (sprot)

description: A creatine kinase M-type that is encoded in the genome of human.


3-furoic acid

A furoic acid carrying the carboxy group at position 3.


Hypouricemia

description: An abnormally low level of uric acid in the blood.


ATN1_HUMAN Atrophin-1 (sprot)

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


name: QORX_HUMAN Quinone oxidoreductase PIG3 (sprot)

description: A quinone oxidoreductase PIG3 that is encoded in the genome of human.


name: SCN4B_HUMAN Sodium channel subunit beta-4 (sprot)

description: A sodium channel subunit beta-4 that is encoded in the genome of human.


eldecalcitol

A hydroxycalciol that is calcitriol with a 3-hydroxypropoxy group at position 2.


H2AV_HUMAN Histone H2A.V (sprot)

A histone H2A.V that is encoded in the genome of human.


GLRX3_HUMAN Glutaredoxin-3 (sprot)

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


PHTHALIC ACID

A benzenedicarboxylic acid cosisting of two carboxy groups at ortho positions.


name: FKBP3_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP3 (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP3 that is encoded in the genome of human.


HYDROPRENE

The ethyl ester of (2E,4E)-3,7,11-trimethyldodeca-2,4-dienoic acid


name: HIP1_HUMAN Huntingtin-interacting protein 1 (sprot)

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


giardiasis

description: An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.


nasal cavity cancer

description: A malignant neoplasm involving the nasal cavity


Farber lipogranulomatosis

description: A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.


name: TSR1_HUMAN Pre-rRNA-processing protein TSR1 homolog (sprot)

description: A pre-rRNA-processing protein TSR1 that is encoded in the genome of human.


hereditary hemorrhagic telangiectasia

description: A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.


lysosomal lipid storage disorder

description: An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.


NAADP

A nicotinic acid dinucleotide that is NADP(+) in which the carboxamide group on the pyridine ring is replaced by a carboxy group.


name: TRIM1_HUMAN Probable E3 ubiquitin-protein ligase MID2 (sprot)

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


EDA_HUMAN Ectodysplasin-A (sprot)

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


name: MS3L1_HUMAN MSL complex subunit 3 (sprot)

description: A male-specific lethal 3 that is encoded in the genome of human.


3-hydroxyisobutyric acid

A 4-carbon, branched hydroxy fatty acid and intermediate in the metabolism of valine.


familial hemiplegic migraine

description: A migraine disorder characterized by individual and family history of aura that includes motor weakness.


name: mixed lobular and ductal breast carcinoma

description: A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.


name: DMA_HUMAN HLA class II histocompatibility antigen, DM alpha chain (sprot)

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


name: NPBW1_HUMAN Neuropeptides B/W receptor type 1 (sprot)

description: A neuropeptides B/W receptor type 1 that is encoded in the genome of human.


Fragile skin

description: Skin that splits easily with minimal injury.


testicular yolk sac tumor

description: A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.


sodium hypochlorite

An inorganic sodium salt in which hypochlorite is the counterion. It is used as a bleaching and disinfecting agent and is commonly found in household bleach.


name: TNR11_HUMAN Tumor necrosis factor receptor superfamily member 11A (sprot)

description: A tumor necrosis factor receptor superfamily member 11A that is encoded in the genome of human.


Akathisia

description: A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.


piroctone

A cyclic hydroxamic acid that consists of 1-hydroxypyridin-2-one bearing methyl and 2,4,4-trimethylpentyl substtituents at positions 4 and 6 respectively.


SG2A1_HUMAN Mammaglobin-B (sprot)

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


ADDB_HUMAN Beta-adducin (sprot)

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


name: TNIP3_HUMAN TNFAIP3-interacting protein 3 (sprot)

description: A TNFAIP3-interacting protein 3 that is encoded in the genome of human.


GEPH_HUMAN Gephyrin (sprot)

A gephyrin that is encoded in the genome of human.


Barrett esophagus

description: Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)


name: RBM15_HUMAN RNA-binding protein 15 (sprot)

description: An RNA-binding protein 15 that is encoded in the genome of human.


STON2_HUMAN Stonin-2 (sprot)

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


eccrine porocarcinoma

description: A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.


necrosulfonamide

A sulfonamide that is a 3-methoxypyrazin-2-yl derivative of (E)-N-(4-(N-(4,6-dimethylpyrimidin-2-yl)sulfamoyl)phenyl)-3-(5-nitrothiophene-2-yl)acrylamide. Necrosulfonamide specifically blocks necrosis downstream of the activation of RIP3 (the receptor-interacting serine-threonine kinase 3), a key signalling molecule in the programmed necrosis (necroptosis) pathway.


vulvar squamous cell carcinoma

description: An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)


name: DRC2_HUMAN Dynein regulatory complex subunit 2 (sprot)

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


name: RISC_HUMAN Retinoid-inducible serine carboxypeptidase (sprot)

description: A retinoid-inducible serine carboxypeptidase that is encoded in the genome of human.


name: TBB4A_HUMAN Tubulin beta-4A chain (sprot)

description: A tubulin beta-4A chain that is encoded in the genome of human.


periventricular leukomalacia

description: Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.


name: MOB3C_HUMAN MOB kinase activator 3C (sprot)

description: A MOB kinase activator 3C that is encoded in the genome of human.


name: HIF3A_HUMAN Hypoxia-inducible factor 3-alpha (sprot)

description: A hypoxia-inducible factor 3-alpha that is encoded in the genome of human.


name: RU2B_HUMAN U2 small nuclear ribonucleoprotein B'' (sprot)

description: A U2 small nuclear ribonucleoprotein B'' that is encoded in the genome of human.


esophageal atresia

description: A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.


name: PTPRD_HUMAN Receptor-type tyrosine-protein phosphatase delta (sprot)

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


name: WDR19_HUMAN WD repeat-containing protein 19 (sprot)

description: A WD repeat-containing protein 19 that is encoded in the genome of human.


SYNJ1_HUMAN Synaptojanin-1 (sprot)

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


name: NRARP_HUMAN Notch-regulated ankyrin repeat-containing protein (sprot)

description: A notch-regulated ankyrin repeat-containing protein that is encoded in the genome of human.


D104A_HUMAN Beta-defensin 104 (sprot)

A beta-defensin 104 that is encoded in the genome of human.


name: RAB3B_HUMAN Ras-related protein Rab-3B (sprot)

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


CANNABIGEROLIC ACID

A dihydroxybenzoic acid that is olivetolic acid in which the hydrogen at position 3 is substituted by a geranyl group. A biosynthetic precursor to Delta(9)-tetrahydrocannabinol, the principal psychoactive constituent of the cannabis plant.


name: DRB3_HUMAN HLA class II histocompatibility antigen, DR beta 3 chain (sprot)

description: An MHC class II histocompatibility antigen beta chain DRB3 that is encoded in the genome of human.


name: NAC3_HUMAN Sodium/calcium exchanger 3 (sprot)

description: A sodium/calcium exchanger 3 that is encoded in the genome of human.


beta-thalassemia major

description: Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.


name: Increased circulating ferritin concentration

description: Increased concentration of ferritin in the blood circulation.


name: acute fibrinous and organizing pneumonia

description: A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.


name: NDK7_HUMAN Nucleoside diphosphate kinase homolog 7 (sprot)

description: A nucleoside diphosphate kinase 7 that is encoded in the genome of human.


CHIN_HUMAN N-chimaerin (sprot)

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


name: NAA20_HUMAN N-alpha-acetyltransferase 20 (sprot)

description: An N-alpha-acetyltransferase 20 that is encoded in the genome of human.


Heavy proteinuria

description: Severely increased levels of protein in the urine (1000-3000 mg per day in adults).


MANBA_HUMAN Beta-mannosidase (sprot)

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


name: GBG11_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 that is encoded in the genome of human.


name: HXC4_HUMAN Homeobox protein Hox-C4 (sprot)

description: A homeobox protein Hox-C4 that is encoded in the genome of human.


name: RS2_HUMAN Small ribosomal subunit protein uS5 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS5 that is encoded in the genome of human.


RCOR1_HUMAN REST corepressor 1 (sprot)

A REST corepressor 1 that is encoded in the genome of human.


RCOR2_HUMAN REST corepressor 2 (sprot)

A REST corepressor 2 that is encoded in the genome of human.


cefadroxil

A cephalosporin bearing methyl and  (2R)-2-amino-2-(4-hydroxyphenyl)acetamido groups at positions 3 and 7, respectively, of the cephem skeleton.


name: HERC1_HUMAN Probable E3 ubiquitin-protein ligase HERC1 (sprot)

description: A probable E3 ubiquitin-protein ligase HERC1 that is encoded in the genome of human.


LERIGLITAZONE

A member of the class of thiazolidenediones that is the hydroxy derivative of pioglitazone.


name: STAP2_HUMAN Signal-transducing adaptor protein 2 (sprot)

description: A signal-transducing adaptor protein 2 that is encoded in the genome of human.


name: PO6F1_HUMAN POU domain, class 6, transcription factor 1 (sprot)

description: A POU domain, class 6, transcription factor 1 that is encoded in the genome of human.


Blastocystis infectious disease

description: Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.


name: ROA0_HUMAN Heterogeneous nuclear ribonucleoprotein A0 (sprot)

description: A heterogeneous nuclear ribonucleoprotein A0 that is encoded in the genome of human.


phosphatidylcholine (17:0/22:6)

A phosphatidylcholine 39:6 in which the fatty acyl groups at positions 1 and 2 are specified as C17:0 and C22:6 respectively.


name: GRHPR_HUMAN Glyoxylate reductase/hydroxypyruvate reductase (sprot)

description: A glyoxylate reductase/hydroxypyruvate reductase that is encoded in the genome of human.


name: NAC2_HUMAN Sodium/calcium exchanger 2 (sprot)

description: A sodium/calcium exchanger 2 that is encoded in the genome of human.


oritavancin

A semisynthetic glycopeptide used (as its bisphosphate salt) for the treatment of acute bacterial skin and skin structure infections caused or suspected to be caused by susceptible isolates of designated Gram-positive microorganisms including MRSA.


name: VPS39_HUMAN Vam6/Vps39-like protein (sprot)

description: A Vam6/Vps39-like protein that is encoded in the genome of human.


name: HNRDL_HUMAN Heterogeneous nuclear ribonucleoprotein D-like (sprot)

description: A heterogeneous nuclear ribonucleoprotein D-like that is encoded in the genome of human.


Pelvic pain

description: Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones.


Geophagia

description: The practice of eating earth or soil-like substrates such as clay or chalk.


DIOXANE

A dioxane with oxygen atoms at positions 1 and 4.


NISCH_HUMAN Nischarin (sprot)

A nischarin that is encoded in the genome of human.


rheumatoid vasculitis

description: Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.


name: E41L1_HUMAN Band 4.1-like protein 1 (sprot)

description: A band 4.1-like protein 1 that is encoded in the genome of human.


name: MZT1_HUMAN Mitotic-spindle organizing protein 1 (sprot)

description: A mitotic-spindle organizing protein 1 that is encoded in the genome of human.


idiopathic hypersomnia

description: Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.


name: MED16_HUMAN Mediator of RNA polymerase II transcription subunit 16 (sprot)

description: A mediator of RNA polymerase II transcription subunit 16 that is encoded in the genome of human.


TEFF2_HUMAN Tomoregulin-2 (sprot)

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


lymphomatoid granulomatosis

description: Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.


name: THAS_HUMAN Thromboxane-A synthase (sprot)

description: A thromboxane-A synthase that is encoded in the genome of human.


necrobiosis lipoidica

description: Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.


RFTN2_HUMAN Raftlin-2 (sprot)

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


name: SAE1_HUMAN SUMO-activating enzyme subunit 1 (sprot)

description: A SUMO-activating enzyme subunit 1 that is encoded in the genome of human.


name: IKBL1_HUMAN NF-kappa-B inhibitor-like protein 1 (sprot)

description: An NF-kappa-B inhibitor-like protein 1 that is encoded in the genome of human.


name: FITM1_HUMAN Fat storage-inducing transmembrane protein 1 (sprot)

description: A fat storage-inducing transmembrane protein 1 that is encoded in the genome of human.


7-CHLOROKYNURENIC ACID

A quinolinemonocarboxylic acid that is quinaldic acid which is substituted by a hydroxy group at position 4 and by a chlorine at position 7. It is a potent NMDA glutamate receptor antagonist which antagonizes the strychnine-insensitive glycine site of the NMDA receptor. It also prevents neurodegeneration produced by quinolinic acid.


trimethylamine

A tertiary amine that is ammonia in which each hydrogen atom is substituted by an methyl group.


name: SET1A_HUMAN Histone-lysine N-methyltransferase SETD1A (sprot)

description: A histone-lysine N-methyltransferase SETD1A that is encoded in the genome of human.


name: congenital generalized lipodystrophy type 2

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.


atopic keratoconjunctivitis

description: Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.


name: RGCC_HUMAN Regulator of cell cycle RGCC (sprot)

description: A response gene to complement 32 protein that is encoded in the genome of human.


breast intraductal proliferative lesion

description: A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.


LDOC1_HUMAN Protein LDOC1 (sprot)

A protein LDOC1 that is encoded in the genome of human.


name: ASCC3_HUMAN Activating signal cointegrator 1 complex subunit 3 (sprot)

description: An activating signal cointegrator 1 complex subunit 3 that is encoded in the genome of human.


suprofen

An aromatic ketone that is thiophene substituted at C-2 by a 4-(1-carboxyethyl)benzoyl group.


name: SIM2_HUMAN Single-minded homolog 2 (sprot)

description: A single-minded homolog 2 that is encoded in the genome of human.


name: GGT7_HUMAN Glutathione hydrolase 7 (sprot)

description: A glutathione hydrolase 7 that is encoded in the genome of human.


SHQ1_HUMAN Protein SHQ1 homolog (sprot)

A protein SHQ1 that is encoded in the genome of human.


name: RGF1C_HUMAN Ras-GEF domain-containing family member 1C (sprot)

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


phosphatidylglycerol (16:0/17:1)

A phosphatidylglycerol 33:1 in which the acyl group at C-1 contains 16 carbons and no double bonds while that at C-2 contains 17 carbons and 1 double bond.


name: KI2LB_HUMAN Killer cell immunoglobulin-like receptor 2DL5B (sprot)

description: A killer cell immunoglobulin-like receptor 2DL5B that is encoded in the genome of human.


name: HERC3_HUMAN Probable E3 ubiquitin-protein ligase HERC3 (sprot)

description: A probable E3 ubiquitin-protein ligase HERC3 that is encoded in the genome of human.


PKP4_HUMAN Plakophilin-4 (sprot)

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


Laryngeal edema

description: An abnormal accumulation of fluid and swelling in the tissues of the larynx.


oral cavity carcinoma

description: A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.


name: idiopathic multicentric Castleman disease


EPN1_HUMAN Epsin-1 (sprot)

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


spondylitis

description: The inflammation of a vertebra.


name: ITM2B_HUMAN Integral membrane protein 2B (sprot)

description: An integral membrane protein 2B that is encoded in the genome of human.


name: MSH4_HUMAN MutS protein homolog 4 (sprot)

description: A MutS protein homolog 4 that is encoded in the genome of human.


A hydroxy monocarboxylic acid anion that is the conjugate base of 3-hydroxyisovaleric acid.


acitretin

A retinoid that consists of 3,7-dimethylnona-2,4,6,8-tetraenoic acid having a 4-methoxy-2,3,6-trimethylphenyl group attached at position 9.


name: AK1C2_HUMAN Aldo-keto reductase family 1 member C2 (sprot)

description: An aldo-keto reductase family 1 member C2 that is encoded in the genome of human.


name: muscular dystrophy-dystroglycanopathy, type A

description: A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.


name: breast implant-associated anaplastic large cell lymphoma


name: CRIM1_HUMAN Cysteine-rich motor neuron 1 protein (sprot)

description: A cysteine-rich motor neuron 1 protein that is encoded in the genome of human.


2,3,5-TRIIODOBENZOIC ACID

A member of the class of benzoic acids that is benzoic acid in which the hydrogens at positions 2, 3 and 5 are replaced by iodine atoms. It is an auxin polar transport inhibitor.


cystic kidney disease

description: A congenital or acquired kidney disorder characterized by the presence of renal cysts.


name: TRIM8_HUMAN E3 ubiquitin-protein ligase TRIM8 (sprot)

description: An E3 ubiquitin-protein ligase TRIM8 that is encoded in the genome of human.


p-HYDROXYCINNAMALDEHYDE

A cinnamaldehyde that is (E)-cinnamaldehyde substituted at position 4 on the phenyl ring by a hydroxy group.


signet ring cell carcinoma

description: A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.


name: MAGH1_HUMAN Melanoma-associated antigen H1 (sprot)

description: A melanoma-associated antigen H1 that is encoded in the genome of human.


name: VIAAT_HUMAN Vesicular inhibitory amino acid transporter (sprot)

description: A vesicular inhibitory amino acid transporter that is encoded in the genome of human.


small cell carcinoma

description: A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.


PFD2_HUMAN Prefoldin subunit 2 (sprot)

A prefoldin subunit 2 that is encoded in the genome of human.


punctate palmoplantar keratoderma

description: A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.


name: PAR3L_HUMAN Partitioning defective 3 homolog B (sprot)

description: A partitioning defective 3 homolog B that is encoded in the genome of human.


Abnormality of the kidney

description: An abnormality of the kidney.


mucolipidosis type II

description: Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.


name: STRA6_HUMAN Receptor for retinol uptake STRA6 (sprot)

description: A receptor for retinol uptake STRA6 that is encoded in the genome of human.


name: MB3L1_HUMAN Methyl-CpG-binding domain protein 3-like 1 (sprot)

description: A methyl-CpG-binding domain protein 3-like 1 that is encoded in the genome of human.


Alkalosis

description: Depletion of acid or accumulation base in the body fluids.


DSG3_HUMAN Desmoglein-3 (sprot)

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


FAM3C_HUMAN Protein FAM3C (sprot)

A protein FAM3C that is encoded in the genome of human.


dyphylline

An oxopurine that is theophylline bearing a 2,3-dihydroxypropyl group at the 7 position. It has broncho- and vasodilator properties, and is used in the treatment of asthma, cardiac dyspnea, and bronchitis. It is also an ingredient in preparations that have been promoted for coughs.


name: FRAT1_HUMAN Proto-oncogene FRAT1 (sprot)

description: A proto-oncogene FRAT1 that is encoded in the genome of human.


name: STMP1_HUMAN Short transmembrane mitochondrial protein 1 (sprot)

description: A protein that is a translation product of the STMP1 gene in human.


name: TRI15_HUMAN E3 ubiquitin-protein ligase TRIM15 (sprot)

description: An E3 ubiquitin-protein ligase TRIM15 that is encoded in the genome of human.


name: ZN703_HUMAN Zinc finger protein 703 (sprot)

description: A zinc finger protein 703 that is encoded in the genome of human.


name: INO80_HUMAN Chromatin-remodeling ATPase INO80 (sprot)

description: A chromatin-remodeling ATPase INO80 that is encoded in the genome of human.


name: MIP_HUMAN Lens fiber major intrinsic protein (sprot)

description: A lens fiber major intrinsic protein that is encoded in the genome of human.


bleomycin A5

A member of the class of bleomycins that is used in sclerotherapy for cervicofacial lymphatic malformations.


name: HMGN2_HUMAN Non-histone chromosomal protein HMG-17 (sprot)

description: A non-histone chromosomal protein HMG-17 that is encoded in the genome of human.


Bartter disease type 3

description: Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


name: U17L2_HUMAN Ubiquitin carboxyl-terminal hydrolase 17 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 17 that is encoded in the genome of human.


name: renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


piriformis syndrome

description: A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.


Periorbital hyperpigmentation

description: Increased pigmentation of the skin in the region surrounding the orbit of the eye.


pseudotumor cerebri

description: Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.


name: PHF19_HUMAN PHD finger protein 19 (sprot)

description: A PHD finger protein 19 that is encoded in the genome of human.


autoimmune epilepsy

description: An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.


name: SREC_HUMAN Scavenger receptor class F member 1 (sprot)

description: A scavenger receptor class F member 1 that is encoded in the genome of human.


name: PLOD1_HUMAN Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (sprot)

description: A procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 that is encoded in the genome of human.


name: GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 1 (sprot)

description: A G protein-regulated inducer of neurite outgrowth 1 that is encoded in the genome of human.


FTM_HUMAN Protein fantom (sprot)

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


copper(II) oxide

A metal oxide that has the formula CuO. It has an ionic structure.


Scintillating scotoma

description: A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.


name: CD5R1_HUMAN Cyclin-dependent kinase 5 activator 1 (sprot)

description: A cyclin-dependent kinase 5 activator 1 that is encoded in the genome of human.


name: NUAK2_HUMAN NUAK family SNF1-like kinase 2 (sprot)

description: A NUAK family SNF1-like kinase 2 that is encoded in the genome of human.


name: DCR1A_HUMAN DNA cross-link repair 1A protein (sprot)

description: A DNA cross-link repair 1A protein that is encoded in the genome of human.


Treacher-Collins syndrome

description: A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.


name: AIG1_HUMAN Androgen-induced gene 1 protein (sprot)

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


Androgen insufficiency

description: Insufficient amount of androgenic activity.


name: KDM3B_HUMAN Lysine-specific demethylase 3B (sprot)

description: A lysine-specific demethylase 3B that is encoded in the genome of human.


A member of the class of  pyrrolidine-2-ones that is pyrrolidin-2-one in which the hydrogen attached to the nitrogen is replaced by a methyl group.


name: PKHB1_HUMAN Pleckstrin homology domain-containing family B member 1 (sprot)

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


AMY2B_HUMAN Alpha-amylase 2B (sprot)

An alpha-amylase 2B that is encoded in the genome of human.


name: R144B_HUMAN E3 ubiquitin-protein ligase RNF144B (sprot)

description: An E3 ubiquitin-protein ligase RNF144B that is encoded in the genome of human.


Oral-pharyngeal dysphagia

description: Difficulty in swallowing due to an abnormality in the mouth or throat.


gastric antral vascular ectasia

description: Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.


RCAN3_HUMAN Calcipressin-3 (sprot)

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


FA10_HUMAN Coagulation factor X (sprot)

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


dedifferentiated chondrosarcoma

description: An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.


name: UBXN1_HUMAN UBX domain-containing protein 1 (sprot)

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


orbital pseudotumor

description: A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).


name: JIP3_HUMAN C-Jun-amino-terminal kinase-interacting protein 3 (sprot)

description: A C-Jun-amino-terminal kinase-interacting protein 3 that is encoded in the genome of human.


Generalized muscle weakness

description: Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.


name: CKAP4_HUMAN Cytoskeleton-associated protein 4 (sprot)

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


metachromatic leukodystrophy

description: A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


p-cresol sulfate

An aryl sulfate that is p-cresol in which the phenolic hydrogen has been replaced by a sulfo group.


borate

Salts and esters of boric acid.


A hydroxybenzaldehyde carrying a hydroxy substituent at position 3.


peritoneal carcinoma

description: A peritoneum cancer that is located in the inside of the abdomen.


PD 168393

A member of the class of quinazolines carrying bromoanilino and acrylamido substituents at positions 4 and 6 respectively.


name: ELMO3_HUMAN Engulfment and cell motility protein 3 (sprot)

description: An engulfment and cell motility protein 3 that is encoded in the genome of human.


kaposiform hemangioendothelioma

description: Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.


name: SIAT2_HUMAN Beta-galactoside alpha-2,6-sialyltransferase 2 (sprot)

description: A beta-galactoside alpha-2,6-sialyltransferase 2 that is encoded in the genome of human.


butenafine

Trimethylamine in which hydrogen atoms attached to different methyl groups are substituted by 1-naphthyl and 4-tert-butylphenyl groups. It is an inhibitor of squalene epoxidase, an enzyme responsible for the creation of sterols needed in fungal cell membranes, and is used as its hydrochloride salt for treatment of dermatological fungal infections.


name: HELLS_HUMAN Lymphoid-specific helicase (sprot)

description: A lymphoid-specific helicase that is encoded in the genome of human.


liver lymphoma

description: A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.


OLIGOMYCIN

An oligomycin with formula C45H74011. An inhibitor of mitochondrial F1FO ATP synthase that induces apoptosis in a variety of cell types and exhibits antifungal, antitumour, and nematicidal activities, but its clinical application has been limited by poor solubility in water and other biocompatible solvents.


feline oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a cat.


name: RTP1_HUMAN Receptor-transporting protein 1 (sprot)

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


ORTERONEL

A member of the class of pyrroloimidazoles that is 6,7-dihydro-5H-pyrrolo[1,2-c]imidazole substituted by hydroxy and 6-(methylcarbamoyl)naphthalen-2-yl groups at position 7 (the 7S-stereoisomer). It is a non-steroidal 17,20-lyase inhibitor that suppresses androgen synthesis. It was previously in clinical development for the treatment of castration-resistant prostate cancer -- trial now discontinued.


name: DIRC2_HUMAN Solute carrier family 49 member 4 (sprot)

description: A solute carrier family 49 member 4 that is encoded in the genome of human.


name: DDX53_HUMAN Probable ATP-dependent RNA helicase DDX53 (sprot)

description: A probable ATP-dependent RNA helicase DDX53 that is encoded in the genome of human.


resveratrol

A stilbenol that is stilbene in which the phenyl groups are substituted at positions 3, 5, and 4' by hydroxy groups.


TSN5_HUMAN Tetraspanin-5 (sprot)

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


name: GATA5_HUMAN Transcription factor GATA-5 (sprot)

description: A transcription factor GATA-5 that is encoded in the genome of human.


name: DPOG1_HUMAN DNA polymerase subunit gamma-1 (sprot)

description: A DNA polymerase subunit gamma-1 that is encoded in the genome of human.


name: MED7_HUMAN Mediator of RNA polymerase II transcription subunit 7 (sprot)

description: A mediator of RNA polymerase II transcription subunit 7 that is encoded in the genome of human.


kaposiform lymphangiomatosis

description: A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.


name: PG2IP_HUMAN PGAP2-interacting protein (sprot)

description: A PGAP2-interacting protein that is encoded in the genome of human.


name: DLGP2_HUMAN Disks large-associated protein 2 (sprot)

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


name: RU2A_HUMAN U2 small nuclear ribonucleoprotein A' (sprot)

description: A U2 small nuclear ribonucleoprotein A' that is encoded in the genome of human.


paranasal sinus lymphoma

description: A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.


GRDN_HUMAN Girdin (sprot)

A girdin that is encoded in the genome of human.


name: DLG5_HUMAN Disks large homolog 5 (sprot)

description: A disks large homolog 5 that is encoded in the genome of human.


name: ISCA1_HUMAN Iron-sulfur cluster assembly 1 homolog, mitochondrial (sprot)

description: An iron-sulfur cluster assembly 1, mitochondrial that is encoded in the genome of human.


idiopathic juvenile osteoporosis

description: Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.


Sertoli cell tumor

description: A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.


name: FOXN4_HUMAN Forkhead box protein N4 (sprot)

description: A forkhead box protein N4 that is encoded in the genome of human.


name: DCA12_HUMAN DDB1- and CUL4-associated factor 12 (sprot)

description: A DDB1- and CUL4-associated factor 12 that is encoded in the genome of human.


glycochenodeoxycholic acid

A bile acid glycine conjugate having 3alpha,7alpha-dihydroxy-5beta-cholan-24-oyl as the bile acid component.


name: LRC31_HUMAN Leucine-rich repeat-containing protein 31 (sprot)

description: A leucine-rich repeat-containing protein 31 that is encoded in the genome of human.


name: BARX2_HUMAN Homeobox protein BarH-like 2 (sprot)

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


vascular hemostatic disease

description: Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.


name: LCK_HUMAN Tyrosine-protein kinase Lck (sprot)

description: A tyrosine-protein kinase Lck that is encoded in the genome of human.


name: GRIK4_HUMAN Glutamate receptor ionotropic, kainate 4 (sprot)

description: A glutamate receptor ionotropic, kainate 4 that is encoded in the genome of human.


learning disability

description: A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.


name: CLC2D_HUMAN C-type lectin domain family 2 member D (sprot)

description: A C-type lectin domain family 2 member D that is encoded in the genome of human.


name: GNAQ_HUMAN Guanine nucleotide-binding protein G(q) subunit alpha (sprot)

description: A guanine nucleotide-binding protein G(q) subunit alpha that is encoded in the genome of human.


uniparental disomy

description: A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.


name: RPGF6_HUMAN Rap guanine nucleotide exchange factor 6 (sprot)

description: A Rap guanine nucleotide exchange factor 6 that is encoded in the genome of human.


name: RBMS3_HUMAN RNA-binding motif, single-stranded-interacting protein 3 (sprot)

description: An RNA-binding motif, single-stranded-interacting protein 3 that is encoded in the genome of human.


name: STAM1_HUMAN Signal transducing adapter molecule 1 (sprot)

description: A signal transducing adapter molecule 1 that is encoded in the genome of human.


Anophthalmia

description: Absence of the globe or eyeball.


name: NMD3A_HUMAN Glutamate receptor ionotropic, NMDA 3A (sprot)

description: A glutamate receptor ionotropic, NMDA 3A that is encoded in the genome of human.


SCG2_HUMAN Secretogranin-2 (sprot)

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


ascariasis

description: An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.


name: SIGL5_HUMAN Sialic acid-binding Ig-like lectin 5 (sprot)

description: A sialic acid-binding Ig-like lectin 5 that is encoded in the genome of human.


cyanide

A pseudohalide anion that is the conjugate base of hydrogen cyanide.


CD22_HUMAN B-cell receptor CD22 (sprot)

A B-cell receptor CD22 that is encoded in the genome of human.


C1QRF_HUMAN C1q-related factor (sprot)

A C1q-related factor that is encoded in the genome of human.


name: NDUAB_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 that is encoded in the genome of human.


PROK1_HUMAN Prokineticin-1 (sprot)

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


fluprostenol

An organofluorine compound that is racemic prostaglandin F2alpha in which the pentyl group is replaced by a 3-(trifluoromethyl)phenoxymethyl group. A synthetic analogue of prostaglandin F2alpha, ophthalmic solutions of its isopropyl ester prodrug, travoprost, are used as a topical medication for controlling the progression of open-angle glaucoma and ocular hypertension, by reducing intraocular pressure. The isopropyl ester group of travoprost is hydrolysed to the biologically active free acid by esterases in the cornea.


name: DUS7_HUMAN Dual specificity protein phosphatase 7 (sprot)

description: A dual specificity protein phosphatase 7 that is encoded in the genome of human.


name: FAF2_HUMAN FAS-associated factor 2 (sprot)

description: A FAS-associated factor 2 that is encoded in the genome of human.


name: UBXN4_HUMAN UBX domain-containing protein 4 (sprot)

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


name: P2R3A_HUMAN Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha (sprot)

description: A serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha that is encoded in the genome of human.


Presenile cataracts

description: Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.


glycogen storage disease V

description: Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.


A diketone that is hexane substituted by oxo groups at positions 2 and 5. It is a toxic metabolite of hexane and of 2-hexanone


name: CEP70_HUMAN Centrosomal protein of 70 kDa (sprot)

description: A centrosomal protein of 70 kDa that is encoded in the genome of human.


name: S45A4_HUMAN Solute carrier family 45 member 4 (sprot)

description: A solute carrier family 45 member 4 that is encoded in the genome of human.


name: CCPG1_HUMAN Cell cycle progression protein 1 (sprot)

description: A cell cycle progression protein 1 that is encoded in the genome of human.


TRICAPRILIN

A triglyceride obtained by acylation of the three hydroxy groups of glycerol by octanoic acid. Used as an alternative energy source to glucose for patients with mild to moderate Alzheimer's disease.


lung adenoma

description: A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.


name: PITM1_HUMAN Membrane-associated phosphatidylinositol transfer protein 1 (sprot)

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


name: MID49_HUMAN Mitochondrial dynamics protein MID49 (sprot)

description: A Smith-Magenis syndrome chromosome region candidate gene 7 protein that is encoded in the genome of human.


name: FRDA_HUMAN Frataxin, mitochondrial (sprot)

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


LOGANIC ACID

A cyclopentapyran that is 1,4a,5,6,7,7a-hexahydrocyclopenta[c]pyran-4-carboxylic acid substituted at positions 1, 6 and 7 by beta-D-glucosyloxy, hydroxy and methyl groups respectively


name: S2513_HUMAN Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (sprot)

description: An electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial that is encoded in the genome of human.


LAYN_HUMAN Layilin (sprot)

A layilin that is encoded in the genome of human.


Limb muscle weakness

description: Reduced strength and weakness of the muscles of the arms and legs.


appendix cancer

description: A malignant neoplasm involving the vermiform appendix


Tremor

description: An unintentional, oscillating to-and-fro muscle movement about a joint axis.


name: WDR82_HUMAN WD repeat-containing protein 82 (sprot)

description: A WD repeat-containing protein 82 that is encoded in the genome of human.


SDCB2_HUMAN Syntenin-2 (sprot)

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


name: APLP1_HUMAN Amyloid beta precursor like protein 1 (sprot)

description: An amyloid beta precursor like protein 1 that is encoded in the genome of human.


dehydroergosterol

A phytosterol consiting of ergostane having double bonds at the 5,6-, 7,8- 9,11- and 22,23-positions as well as a 3beta-hydroxy group.


PLSI_HUMAN Plastin-1 (sprot)

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


drug-induced lupus erythematosus

description: An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.


name: PK1IP_HUMAN p21-activated protein kinase-interacting protein 1 (sprot)

description: A p21-activated protein kinase-interacting protein 1 that is encoded in the genome of human.


name: ACS2B_HUMAN Acyl-coenzyme A synthetase ACSM2B, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM2B, mitochondrial that is encoded in the genome of human.


description: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.


unilateral retinoblastoma

description: A retinoblastoma that only involves a single eye.


Landau-Kleffner syndrome

description: Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.


CYTSA_HUMAN Cytospin-A (sprot)

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


phosphatidylethanolamine (18:0/20:3)

1,2-diacyl-sn-glycero-3-phosphoethanolamine in which the acyl group at C-1 contains 18 carbons and no double bonds while that at C-2 contains 20 carbons and 3 double bonds.


name: AR13B_HUMAN ADP-ribosylation factor-like protein 13B (sprot)

description: An ADP-ribosylation factor-like protein 13B that is encoded in the genome of human.


name: GBRB2_HUMAN Gamma-aminobutyric acid receptor subunit beta-2 (sprot)

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


name: PDE2A_HUMAN cGMP-dependent 3',5'-cyclic phosphodiesterase (sprot)

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


gestational choriocarcinoma

description: Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.


name: KCNQ5_HUMAN Potassium voltage-gated channel subfamily KQT member 5 (sprot)

description: A voltage-gated potassium channel subunit KCNQ5 that is encoded in the genome of human.


MFRN1_HUMAN Mitoferrin-1 (sprot)

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


RAFFINOSE

A trisaccharide composed of alpha-D-galactopyranose, alpha-D-glucopyranose and beta-D-fructofuranose joined in sequence by 1->6 and 1<->2 glycosidic linkages, respectively.


childhood pleomorphic rhabdomyosarcoma

description: A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.


sertaconazole

A racemate comprising equimolar amounts of (R)- and (S)-sertaconazole. A broad spectrum antifungal with added antipruritic and anti-inflammatory activity used (as its nitrate salt) for treatment of various skin infections.


acute retinal necrosis syndrome

description: Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.


name: FMNL2_HUMAN Formin-like protein 2 (sprot)

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


name: LRTM1_HUMAN Leucine-rich repeat and transmembrane domain-containing protein 1 (sprot)

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


penile carcinoma

description: A carcinoma that arises from epithelial cells of the penis


name: WIPI2_HUMAN WD repeat domain phosphoinositide-interacting protein 2 (sprot)

description: A WD repeat domain phosphoinositide-interacting protein 2 that is encoded in the genome of human.


feline mammary carcinoma

description: Mammary carcinoma occurring in a cat.


clear cell adenocarcinoma

description: A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.


sitosterolemia

description: A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.


name: DOCK5_HUMAN Dedicator of cytokinesis protein 5 (sprot)

description: A dedicator of cytokinesis protein 5 that is encoded in the genome of human.


SODIUM SULFITE

An inorganic sodium salt having sulfite as the counterion.


name: celiac artery stenosis from compression by median arcuate ligament of diaphragm

description: A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.


rete testis adenocarcinoma

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


beta-caryophyllene

A sesquiterpene with a [7.2.0]-bicyclic structure comprising fused 9- and 4-membered rings, with a trans-ring junction, a trans-double bond between the 4- and 5-positions of the 9-membered ring, a methylidene group at position 9, and methyl groups at positions 3, 11, and 11. The most commonly occurring form is the (1R,9S)-(-)-enantiomer, which is found in many essential oils, particularly clove oil.


hemiplegia

description: Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.


name: NFIC_HUMAN Nuclear factor 1 C-type (sprot)

description: A nuclear factor 1 C-type that is encoded in the genome of human.


name: BMS1_HUMAN Ribosome biogenesis protein BMS1 homolog (sprot)

description: A ribosome biogenesis protein BMS1 that is encoded in the genome of human.


name: GRB7_HUMAN Growth factor receptor-bound protein 7 (sprot)

description: A growth factor receptor-bound protein 7 that is encoded in the genome of human.


name: GT251_HUMAN Procollagen galactosyltransferase 1 (sprot)

description: A procollagen galactosyltransferase 1 that is encoded in the genome of human.


sclerema neonatorum

description: A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.


Intellectual disability, severe

description: Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.


pneumoconiosis

description: An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.


name: PTBP3_HUMAN Polypyrimidine tract-binding protein 3 (sprot)

description: A regulator of differentiation 1 that is encoded in the genome of human.


osteoblastoma

description: A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.


Sudden unexpected death in epilepsy

description: Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.


name: GAK_HUMAN Cyclin-G-associated kinase (sprot)

description: A cyclin-G-associated kinase that is encoded in the genome of human.


name: NRBP_HUMAN Nuclear receptor-binding protein (sprot)

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


name: CGRF1_HUMAN Cell growth regulator with RING finger domain protein 1 (sprot)

description: A cell growth regulator with RING finger domain protein 1 that is encoded in the genome of human.


proliferative glomerulonephritis

description: A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.


name: EMC10_HUMAN ER membrane protein complex subunit 10 (sprot)

description: An ER membrane protein complex subunit 10 that is encoded in the genome of human.


name: IFT25_HUMAN Intraflagellar transport protein 25 homolog (sprot)

description: An intraflagellar transport protein 25 homolog that is encoded in the genome of human.


P-NITROPHENOL

A member of the class of 4-nitrophenols that is phenol in which the hydrogen that is para to the hydroxy group has been replaced by a nitro group.


name: LLR1_HUMAN Leucine-rich repeat protein 1 (sprot)

description: A peptidylprolyl isomerase-like 5 that is encoded in the genome of human.


pituitary cancer

description: A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.


DSCR6_HUMAN Protein ripply3 (sprot)

A protein ripply3 that is encoded in the genome of human.


CARDOL

Resorcinol substituted at position 5 by a pentadecyl chain.


name: FOXH1_HUMAN Forkhead box protein H1 (sprot)

description: A forkhead box protein H1 that is encoded in the genome of human.


name: DDX3Y_HUMAN ATP-dependent RNA helicase DDX3Y (sprot)

description: An ATP-dependent RNA helicase DDX3Y that is encoded in the genome of human.


ethidium

The fluorescent compound widely used in experimental cell biology and biochemistry to reveal double-stranded DNA and RNA.


name: KCTD5_HUMAN BTB/POZ domain-containing protein KCTD5 (sprot)

description: A BTB/POZ domain-containing protein KCTD5 that is encoded in the genome of human.


name: KCD12_HUMAN BTB/POZ domain-containing protein KCTD12 (sprot)

description: A BTB/POZ domain-containing protein KCTD12 that is encoded in the genome of human.


name: PRD15_HUMAN PR domain zinc finger protein 15 (sprot)

description: A PR domain zinc finger protein 15 that is encoded in the genome of human.


SVIL_HUMAN Supervillin (sprot)

A supervillin that is encoded in the genome of human.


elbasvir

A complex organic heterotetracyclic compound that is a hepatitis C virus nonstructural protein 5A inhibitor used in combination with grazoprevir (under the brand name Zepatier) for treatment of chronic HCV genotypes 1 or 4 infection in adults.


felbamate

The bis(carbamate ester) of 2-phenylpropane-1,3-diol. An anticonvulsant, it is used in the treatment of epilepsy.


name: TDIF1_HUMAN Deoxynucleotidyltransferase terminal-interacting protein 1 (sprot)

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


name: ADPPT_HUMAN L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (sprot)

description: An L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase that is encoded in the genome of human.


juvenile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.


adenosquamous carcinoma

description: A carcinoma composed of malignant glandular cells and malignant squamous cells.


inherited thrombophilia

description: An instance of thrombophilia that is inherited.


THIAMINE HYDROCHLORIDE

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


name: TBCD_HUMAN Tubulin-specific chaperone D (sprot)

description: A tubulin-specific chaperone D that is encoded in the genome of human.


name: MTA3_HUMAN Metastasis-associated protein MTA3 (sprot)

description: A metastasis-associated protein MTA3 that is encoded in the genome of human.


ethyl ester

Any carboxylic ester resulting from the formal condensation of the carboxy group of a carboxylic acid with ethanol.


Synovial lining hyperplasia

description: Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.


name: RB33B_HUMAN Ras-related protein Rab-33B (sprot)

description: A Ras-related protein Rab-33B that is encoded in the genome of human.


name: ERC6L_HUMAN DNA excision repair protein ERCC-6-like (sprot)

description: A DNA excision repair protein ERCC-6-like that is encoded in the genome of human.


name: ZIC3_HUMAN Zinc finger protein ZIC 3 (sprot)

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


name: NKX11_HUMAN NK1 transcription factor-related protein 1 (sprot)

description: An NK1 transcription factor-related protein 1 that is encoded in the genome of human.


antisynthetase syndrome

description: Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).


Mental deterioration

description: Loss of previously present mental abilities, generally in adults.


MCF2_HUMAN Proto-oncogene DBL (sprot)

A proto-oncogene DBL that is encoded in the genome of human.


ELOB_HUMAN Elongin-B (sprot)

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


SHRPN_HUMAN Sharpin (sprot)

A sharpin that is encoded in the genome of human.


name: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids


name: VHL_HUMAN von Hippel-Lindau disease tumor suppressor (sprot)

description: A von Hippel-Lindau disease tumor suppressor that is encoded in the genome of human.


name: LMTK1_HUMAN Serine/threonine-protein kinase LMTK1 (sprot)

description: A serine/threonine-protein kinase LMTK1 that is encoded in the genome of human.


infratentorial neoplasm

description: A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.


name: MON1A_HUMAN Vacuolar fusion protein MON1 homolog A (sprot)

description: A vacuolar fusion protein MON1 homolog A that is encoded in the genome of human.


name: RYBP_HUMAN RING1 and YY1-binding protein (sprot)

description: A RING1 and YY1-binding protein that is encoded in the genome of human.


name: ACER1_HUMAN Alkaline ceramidase 1 (sprot)

description: An alkaline ceramidase 1 that is encoded in the genome of human.


name: NBR1_HUMAN Next to BRCA1 gene 1 protein (sprot)

description: A next to BRCA1 gene 1 protein that is encoded in the genome of human.


name: DAAM2_HUMAN Disheveled-associated activator of morphogenesis 2 (sprot)

description: A disheveled-associated activator of morphogenesis 2 that is encoded in the genome of human.


name: BAT1_HUMAN b(0,+)-type amino acid transporter 1 (sprot)

description: A b(0,+)-type amino acid transporter 1 that is encoded in the genome of human.


name: RAB20_HUMAN Ras-related protein Rab-20 (sprot)

description: A Ras-related protein Rab-20 that is encoded in the genome of human.


name: P4R3B_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 3B (sprot)

description: A serine/threonine-protein phosphatase 4 regulatory subunit 3B that is encoded in the genome of human.


lipoma

description: A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.


perazine

A phenothiazine derivative in which 10H-phenothiazinecarries a 3-(4-methylpiperazin-1-yl)propyl substituent at the N-10 position.


NUP37_HUMAN Nucleoporin Nup37 (sprot)

A nucleoporin Nup37 that is encoded in the genome of human.


Kashin-Beck disease

description: Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.


Renal tubular epithelial cell apoptosis

description: Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.


name: ITFG2_HUMAN KICSTOR complex protein ITFG2 (sprot)

description: A KICSTOR complex protein ITFG2 that is encoded in the genome of human.


name: P2Y10_HUMAN Putative P2Y purinoceptor 10 (sprot)

description: A putative P2Y purinoceptor 10 that is encoded in the genome of human.


Fitz-Hugh-Curtis syndrome

description: Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.


name: JUPI1_HUMAN Jupiter microtubule associated homolog 1 (sprot)

description: A jupiter microtubule associated homolog 1 that is encoded in the genome of human.