name: BBS7_HUMAN Bardet-Biedl syndrome 7 protein (sprot)

description: A Bardet-Biedl syndrome 7 protein that is encoded in the genome of human.


name: ZN462_HUMAN Zinc finger protein 462 (sprot)

description: A zinc finger protein 462 that is encoded in the genome of human.


name: RSRC1_HUMAN Serine/Arginine-related protein 53 (sprot)

description: An arginine/serine-rich coiled-coil protein 1 that is encoded in the genome of human.


histrionic personality disorder

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

description: A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.


benign neoplasm of pituitary gland

description: A benign neoplasm that involves the pituitary gland.


ATRACURIUM BESYLATE

The bisbenzenesulfonate salt of atracurium.


methcathinone

A racemate comprising equal amounts of (R)- and (S)-methcathinone.


name: GLYL1_HUMAN Glycine N-acyltransferase-like protein 1 (sprot)

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


McLeod neuroacanthocytosis syndrome

description: A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.


name: PKHA6_HUMAN Pleckstrin homology domain-containing family A member 6 (sprot)

description: A pleckstrin homology domain-containing family A member 6 that is encoded in the genome of human.


name: STYL1_HUMAN Serine/threonine/tyrosine-interacting-like protein 1 (sprot)

description: A serine/threonine/tyrosine-interacting-like protein 1 that is encoded in the genome of human.


Amegakaryocytic thrombocytopenia

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

description: Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


familial chilblain lupus

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


F200B_HUMAN Protein FAM200B (sprot)

A protein that is a translation product of the FAM200B gene in human.


GLDN_HUMAN Gliomedin (sprot)

A gliomedin that is encoded in the genome of human.


jadomycin B

A jadomycin that is jadomycin A in which the phenolic hydroxy group at position 12 has been converted to the corresponding 2,6-dideoxy-alpha-L-ribo-hexopyranoside, isolated from Streptomyces venezuelae. It exists as a diastereoisomeric mixture consisting of both 3aS and 3aR isomers.


atrial septal defect 2

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.


name: NEMF_HUMAN Ribosome quality control complex subunit NEMF (sprot)

description: A serologically defined colon cancer antigen 1 that is encoded in the genome of human.


name: CNTD1_HUMAN Cyclin N-terminal domain-containing protein 1 (sprot)

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


Exertional dyspnea

description: Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.


indole-1-acetic acid

An indolyl carboxylic acid that is acetic acid in which one of the methyl hydrogens is substituted by an indol-1-yl group.


carcinine

A beta-alanine derivative that is the amide obtained by formal condensation of the carboxy group of beta-alanine with the primary amino group of histamine.


name: LACB2_HUMAN Endoribonuclease LACTB2 (sprot)

description: An endoribonuclease LACTB2 that is encoded in the genome of human.


drug psychosis

description: Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.


name: TBX19_HUMAN T-box transcription factor TBX19 (sprot)

description: A T-box transcription factor TBX19 that is encoded in the genome of human.


synovial chondromatosis

description: Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.


lower limb hypertrophy

description: Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.


name: RAB8B_HUMAN Ras-related protein Rab-8B (sprot)

description: A Ras-related protein Rab-8B that is encoded in the genome of human.


TEKT3_HUMAN Tektin-3 (sprot)

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


name: QTMAN_HUMAN tRNA-queuosine alpha-mannosyltransferase (sprot)

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


name: RPR1B_HUMAN Regulation of nuclear pre-mRNA domain-containing protein 1B (sprot)

description: A regulation of nuclear pre-mRNA domain-containing protein 1B that is encoded in the genome of human.


name: ZDHC9_HUMAN Palmitoyltransferase ZDHHC9 (sprot)

description: A palmitoyltransferase ZDHHC9 that is encoded in the genome of human.


name: DECR2_HUMAN Peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] (sprot)

description: A peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] that is encoded in the genome of human.


name: MA1B1_HUMAN Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (sprot)

description: An endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase that is encoded in the genome of human.


name: CSN9_HUMAN COP9 signalosome complex subunit 9 (sprot)

description: A COP9 signalosome complex subunit 9 that is encoded in the genome of human.


name: multiple self-healing squamous epithelioma

description: Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.


name: LCOR_HUMAN Ligand-dependent corepressor (sprot)

description: A ligand-dependent corepressor that is encoded in the genome of human.


acute endophthalmitis

description: Acute form of endophthalmitis.


atypical carcinoid tumor

description: A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.


functioning gonadotropic adenoma

description: Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).


Mesenteric venous thrombosis

description: A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).


beta-muricholic acid

A member of the class of muricholic acids in which the hydroxy groups at positions 6 and 7 both have beta configuration.


anthrax infection

description: An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.


name: RF1ML_HUMAN Peptide chain release factor 1-like, mitochondrial (sprot)

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


Basal ganglia calcification

description: The presence of calcium deposition affecting one or more structures of the basal ganglia.


ELYS_HUMAN Protein ELYS (sprot)

An AT-hook-containing transcription factor 1 that is encoded in the genome of human.


BCGitis

description: Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.


name: congenital brain dysgenesis due to glutamine synthetase deficiency


name: PATL2_HUMAN Protein PAT1 homolog 2 (sprot)

description: A protein PAT1 homolog 2 that is encoded in the genome of human.


name: RT16_HUMAN Small ribosomal subunit protein bS16m (sprot)

description: A small ribosomal subunit protein bS16m that is encoded in the genome of human.


sodium monofluorophosphate

Sodium fluorophosphate, commonly abbreviated MFP, is an inorganic compound with the chemical formula Na2PO3F. Typical for a salt, MFP is odourless, colourless, and water-soluble. This salt is an ingredient in toothpastes.


name: RAB30_HUMAN Ras-related protein Rab-30 (sprot)

description: A Ras-related protein Rab-30 that is encoded in the genome of human.


permanent congenital hypothyroidism

description: Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.


name: MIA2_HUMAN Melanoma inhibitory activity protein 2 (sprot)

description: A melanoma inhibitory activity protein 2 that is encoded in the genome of human.


CFC1_HUMAN Cryptic protein (sprot)

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


RASE_HUMAN GTPase ERas (sprot)

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


cefpirome

A fourth-generation cephalosporin antibiotic having 6,7-dihydro-5H-cyclopenta[b]pyridinium-1-ylmethyl and [(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino side groups located at positions 3 and 7 respectively.


name: UB2E1_HUMAN Ubiquitin-conjugating enzyme E2 E1 (sprot)

description: A ubiquitin-conjugating enzyme E2 E1 that is encoded in the genome of human.


Buruli ulcer disease

description: A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.


name: ZN117_HUMAN Zinc finger protein 117 (sprot)

description: A zinc finger protein 117 that is encoded in the genome of human.


PEAK3_HUMAN Protein PEAK3 (sprot)

A protein that is a translation product of the PEAK3 gene in human.


name: GID8_HUMAN Glucose-induced degradation protein 8 homolog (sprot)

description: A glucose-induced degradation protein 8 homolog that is encoded in the genome of human.


name: megalencephalic leukoencephalopathy with subcortical cysts 1


name: ZMYM3_HUMAN Zinc finger MYM-type protein 3 (sprot)

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


colon leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.


name: acute megakaryoblastic leukemia in down syndrome


Centrocecal scotoma

description: A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.


reproductive system cancer

description: A malignant neoplasm involving the reproductive organ


name: MDEAS_HUMAN Mitotic deacetylase-associated SANT domain protein (sprot)

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


bone marrow failure syndrome

description: A familial or acquired bone marrow failure syndrome.


name: RMXL1_HUMAN RNA binding motif protein, X-linked-like-1 (sprot)

description: An RNA binding motif protein, X-linked-like-1 that is encoded in the genome of human.


LEOPARD syndrome 1

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.


name: MDS2_HUMAN Myelodysplastic syndrome 2 translocation-associated protein (sprot)

description: A myelodysplastic syndrome 2 translocation-associated protein that is encoded in the genome of human.


name: RBY1A_HUMAN RNA-binding motif protein, Y chromosome, family 1 member A1 (sprot)

description: An RNA-binding motif protein, Y chromosome, family 1 member A1 that is encoded in the genome of human.


SPB11_HUMAN Serpin B11 (sprot)

A serpin B11 that is encoded in the genome of human.


name: TR5OS_HUMAN Putative uncharacterized protein TRPC5OS (sprot)

description: A putative uncharacterized protein TRPC5OS homolog that is encoded in the genome of human.


name: QCR6_HUMAN Cytochrome b-c1 complex subunit 6, mitochondrial (sprot)

description: A cytochrome b-c1 complex subunit 6, mitochondrial that is encoded in the genome of human.


Chromosome breakage

description: Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.


name: ANR16_HUMAN Ankyrin repeat domain-containing protein 16 (sprot)

description: An ankyrin repeat domain-containing protein 16 that is encoded in the genome of human.


papillary thyroid Microcarcinoma

description: A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.


penicillanic acid

A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration.


DEOXYFUCONOJIRIMYCIN

A hydroxypiperidine in which the three hydroxy substituents are located at positions 3, 4 and 5 together with an additional methyl substituent at position 2.


UDP-galactose

A UDP-D-galactose in which the anomeric centre of the galactose moiety has alpha-configuration.


inherited thrombocytopenia

description: An instance of thrombocytopenia that is inherited.


adult Refsum disease

description: A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


name: BCL6B_HUMAN B-cell CLL/lymphoma 6 member B protein (sprot)

description: A B-cell CLL/lymphoma 6 member B protein that is encoded in the genome of human.


intermittent maple syrup urine disease

description: Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


PECTOLINARIGENIN

A dimethoxyflavone that is the 6,4'-dimethyl ether derivative of  scutellarein.


appendix carcinoma

description: A carcinoma that arises from epithelial cells of the vermiform appendix


reflex epilepsy

description: Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).


choanal atresia

description: Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


A cyclic adenyl ribonucleotide that is cAMP (cyclic adenosine 3',5'-phosphate) in which the hydrogen at position 8 has been replaced by a piperidin-1-yl group. A selective cAMP-dependent protein kinase A (PKA) activator and cAMP analogue with high selectivity for site A of PKA type I and for site B of PKA type II.


name: CAHM6_HUMAN Calcium homeostasis modulator protein 6 (sprot)

description: A calcium homeostasis modulator protein 6 that is encoded in the genome of human.


name: RN114_HUMAN E3 ubiquitin-protein ligase RNF114 (sprot)

description: An E3 ubiquitin-protein ligase RNF114 that is encoded in the genome of human.


name: ZBED4_HUMAN Zinc finger BED domain-containing protein 4 (sprot)

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


name: ATP5E_HUMAN ATP synthase subunit epsilon, mitochondrial (sprot)

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


ceroid lipofuscinosis, neuronal, 6A

description: A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: CD20B_HUMAN Cell division cycle protein 20 homolog B (sprot)

description: A cell division cycle protein 20 homolog B that is encoded in the genome of human.


name: SERP2_HUMAN Stress-associated endoplasmic reticulum protein 2 (sprot)

description: A stress-associated endoplasmic reticulum protein 2 that is encoded in the genome of human.


genital herpes

description: Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.


FA83C_HUMAN Protein FAM83C (sprot)

A protein FAM83C that is encoded in the genome of human.


necrotizing fasciitis

description: Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.


name: RCL1_HUMAN RNA 3'-terminal phosphate cyclase-like protein (sprot)

description: An RNA 3'-terminal phosphate cyclase-like protein that is encoded in the genome of human.


Perry syndrome

description: Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.


name: familial male-limited precocious puberty

description: Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.


name: WFKN1_HUMAN WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1 (sprot)

description: A WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1 that is encoded in the genome of human.


name: CB5D1_HUMAN Cytochrome b5 domain-containing protein 1 (sprot)

description: A cytochrome b5 domain-containing protein 1 that is encoded in the genome of human.


CORO6_HUMAN Coronin-6 (sprot)

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


name: MFSD3_HUMAN Major facilitator superfamily domain-containing protein 3 (sprot)

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


DIAVERIDINE

An aminopyrimidine in which the pyrimidine ring carries amino substituents at C-2 and C-4 and a 3,4-dimethoxybenzyl group at C-5. A folic acid antagonist, it is used as a synergist with sulfonamides against the parasitic Eimeria species.


serous cystadenoma

description: A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.


name: VATE1_HUMAN V-type proton ATPase subunit E 1 (sprot)

description: A V-type proton ATPase subunit E 1 that is encoded in the genome of human.


kidney oncocytoma

description: A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.


name: CLCKB_HUMAN Chloride channel protein ClC-Kb (sprot)

description: A chloride channel protein ClC-Kb that is encoded in the genome of human.


name: UBL3_HUMAN Ubiquitin-like protein 3 (sprot)

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


name: PTPRF_HUMAN Receptor-type tyrosine-protein phosphatase F (sprot)

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


xanthogranulomatous pyelonephritis

description: Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.


myofibrillar myopathy 1

description: A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.


name: KLHL2_HUMAN Kelch-like protein 2 (sprot)

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


methanesulfonic acid

An alkanesulfonic acid in which the alkyl group directly linked to the sulfo functionality is methyl.


AMTN_HUMAN Amelotin (sprot)

An amelotin that is encoded in the genome of human.


name: PSMD8_HUMAN 26S proteasome non-ATPase regulatory subunit 8 (sprot)

description: A 26S proteasome non-ATPase regulatory subunit 8 that is encoded in the genome of human.


name: UBFD1_HUMAN Ubiquitin domain-containing protein UBFD1 (sprot)

description: A ubiquitin domain-containing protein UBFD1 that is encoded in the genome of human.


DIETHYL MALEATE

A maleate ester resulting from the formal condensation of both carboxy groups of maleic acid with ethanol. A colourless liquid at room temperature (m.p. -10degreeC) with boiling point 220degreeC at 1 atm., it is commonly used as a dienophile for Diels-Alder-type cycloaddition reactions in organic synthesis.


SYBR Green I

A benzothiazolium ion resulting from the methylation of the nitrogen of the benzothiazole group of N-[4-(1,3-benzothiazol-2-ylmethylene)-1-phenyl-1,4-dihydroquinolin-2-yl]-N',N'-dimethyl-N-propylpropane-1,3-diamine. A cationic unsymmetrical cyanine dye that binds to double-stranded DNA and is used as a nucleic acid stain in molecular biology.


AMASTATIN

A tetrapeptide comprising (2S,3R)-3-amino-2-hydroxy-5-methylhexanoyl, L-valyl, L-valyl and L-aspartic acid units joined in sequence


cap polyposis

description: Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.


name: INT4_HUMAN Integrator complex subunit 4 (sprot)

description: An integrator complex subunit 4 that is encoded in the genome of human.


name: congenital hereditary endothelial dystrophy of cornea

description: A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.


acute hypotension

description: Acute form of hypotension (disease).


ampulla of vater cancer

description: A primary or metastatic malignant neoplasm involving the ampulla of Vater.


amarogentin

A secoiridoid glycoside that consists of (4aS,5R,6R)-5-ethenyl-6-hydroxy-4,4a,5,6-tetrahydro-1H,3H-pyrano[3,4-c]pyran-1-one having a  2-O-[(3,3',5-trihydroxybiphenyl-2-yl)carbonyl]-beta-D-glucopyranosyl group attached at position 6 via a glycosidic linkage.


name: circadian rhythm sleep disorder, shift work type

description: A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.


Abnormal oral glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.


somatization disorder

description: Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)


name: UN13C_HUMAN Protein unc-13 homolog C (sprot)

description: A protein unc-13 homolog C that is encoded in the genome of human.


sodium L-ascorbic acid 2-phosphate

An organic sodium salt that is the trisodium salt of L-ascorbic acid 2-phosphate. It is a stable vitamin C derivative which is a highly effective antioxidant that has demonstrated efficacy in treating acne.


name: PARP6_HUMAN Protein mono-ADP-ribosyltransferase PARP6 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP6 that is encoded in the genome of human.


Loss of voice

description: A term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic).


pent-2-enoic acid

A pentenoic acid having the double bond at position 2.


name: KI21B_HUMAN Kinesin-like protein KIF21B (sprot)

description: A kinesin-like protein KIF21B that is encoded in the genome of human.


name: UNC5C_HUMAN Netrin receptor UNC5C (sprot)

description: A netrin receptor UNC5C that is encoded in the genome of human.


name: DHX32_HUMAN Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 (sprot)

description: A putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 that is encoded in the genome of human.


PLA2G6-associated neurodegeneration

description: Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.


Polysplenia

description: Polysplenia is a congenital disease manifested by multiple small accessory spleens.


name: K1C28_HUMAN Keratin, type I cytoskeletal 28 (sprot)

description: A keratin, type I cytoskeletal 28 that is encoded in the genome of human.


NUMB_HUMAN Protein numb homolog (sprot)

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


macular amyloidosis

description: Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.


laryngeal papillomatosis

description: Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.


YJU2_HUMAN Splicing factor YJU2 (sprot)

A splicing factor YJU2 that is encoded in the genome of human.


name: CALY_HUMAN Neuron-specific vesicular protein calcyon (sprot)

description: A neuron-specific vesicular protein calcyon that is encoded in the genome of human.


Peripheral visual field loss

description: Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.


name: PCCB_HUMAN Propionyl-CoA carboxylase beta chain, mitochondrial (sprot)

description: A propionyl-CoA carboxylase beta chain, mitochondrial that is encoded in the genome of human.


name: KAD6_HUMAN Adenylate kinase isoenzyme 6 (sprot)

description: An adenylate kinase isoenzyme 6 that is encoded in the genome of human.


Alzheimer disease 7

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.


name: VCIP1_HUMAN Deubiquitinating protein VCPIP1 (sprot)

description: A deubiquitinating protein VCPIP1 that is encoded in the genome of human.


name: KCNS1_HUMAN Potassium voltage-gated channel subfamily S member 1 (sprot)

description: A voltage-gated potassium channel KCNS1 that is encoded in the genome of human.


ROP1A_HUMAN Ropporin-1A (sprot)

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


SFXN4_HUMAN Sideroflexin-4 (sprot)

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


name: ID2_HUMAN DNA-binding protein inhibitor ID-2 (sprot)

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


name: GGT2_HUMAN Inactive glutathione hydrolase 2 (sprot)

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


name: ARHL1_HUMAN Inactive ADP-ribosyltransferase ARH2 (sprot)

description: An inactive ADP-ribosyltransferase ARH2 that is encoded in the genome of human.


laurinterol

A sesquiterpenoid isolated from Laurencia intermedia and Aplysia kurodai and has been found to exhibit antibacterial activity,


insulin

An insulin that is produced in the pancreas and involved in regulating the metabolism of carbohydrates (particularly glucose) and fats. Commonly thought of as a protein, it consists of two peptide chains, one containing 21 amino acid residues and the other containing 30; the chains are joined together by 2 disulfide bonds. Recombinant insulin is identical to human insulin, but is synthesised by inserting the human insulin gene into E. coli, which then produces insulin for human use. It is used in the treatment of type I and type II diabetes.


AGAT deficiency

description: L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


intramuscular hemangioma

description: A hemangioma arising from skeletal muscle.


classic pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.


Abnormality of glycolipid metabolism

description: An abnormality of glycolipid metabolism.


name: neuroendocrine tumor of rectum, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.


endometrial hyperplasia without atypia

description: Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.


cerebronic acid

A very long-chain hydroxy fatty acid composed of lignoceric acid having a 2-hydroxy substituent.


name: CREST_HUMAN Calcium-responsive transactivator (sprot)

description: A calcium-responsive transactivator that is encoded in the genome of human.


YIF1A_HUMAN Protein YIF1A (sprot)

A protein YIF1A that is encoded in the genome of human.


taltirelin

An oligopeptide comprising of (4S)-1-methyl-2,6-dioxohexahydropyrimidine-4-carboxylic acid, L-histidine and L-prolinamide joined in sequence by peptide linkages. It is a thyrotropin-releasing hormone (TRH) analog. Its tetrahydrate form is approved in Japan for the treatment of spinal muscular atrophy.


isovaleryl-CoA

A  methylbutanoyl-CoA is the S-isovaleryl derivative of coenzyme A.


lathosterolosis

description: Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


Calcium nephrolithiasis

description: The presence of calcium-containing calculi (stones) in the kidneys.


cecal neoplasm

description: A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


A phenolate anion obtained by deprotonation of the hydroxy group located at the position ortho to the carbonyl group of isoliquiritigenin. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.).


name: PAQRA_HUMAN Monocyte to macrophage differentiation factor 2 (sprot)

description: A monocyte to macrophage differentiation factor 2 that is encoded in the genome of human.


Subcutaneous lipoma

description: The presence of subcutaneous lipoma.


name: IQCF1_HUMAN IQ domain-containing protein F1 (sprot)

description: An IQ domain-containing protein F1 that is encoded in the genome of human.


Hepatic lobular inflammation

description: Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).


name: ERMAP_HUMAN Erythroid membrane-associated protein (sprot)

description: An erythroid membrane-associated protein that is encoded in the genome of human.


CITRONELLIC ACID

A monounsaturated fatty acid that is oct-6-enoic acid carrying methyl groups at positions 3 and 7.


name: TLL1_HUMAN Tolloid-like protein 1 (sprot)

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


name: SHOX_HUMAN Short stature homeobox protein (sprot)

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


name: duodenal gastrin-producing neuroendocrine tumor

description: A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.


Distal amyotrophy

description: Muscular atrophy affecting muscles in the distal portions of the extremities.


Basal ganglia edema

description: Swelling within the basal ganglia due to the accumulation of fluid.


thyroid gland adenocarcinoma

description: An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).


cyclizine

An N-alkylpiperazine in which one nitrogen of the piperazine ring is substituted by a methyl group, while the other is substituted by a diphenylmethyl group.


name: KR111_HUMAN Keratin-associated protein 11-1 (sprot)

description: A keratin-associated protein 11-1 that is encoded in the genome of human.


name: medulloblastoma with extensive nodularity

description: Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.


name: HTD2_HUMAN Hydroxyacyl-thioester dehydratase type 2, mitochondrial (sprot)

description: A hydroxyacyl-thioester dehydratase type 2, mitochondrial that is encoded in the genome of human.


2,4-dihydroxybutanoic acid

A omega-hydroxy fatty acid that is butyric acid substituted by hydroxy groups at positions 2 and 4 respectively.


piperidine

An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine.


name: SPTA1_HUMAN Spectrin alpha chain, erythrocytic 1 (sprot)

description: A spectrin alpha chain, erythrocytic 1 that is encoded in the genome of human.


small bowel Crohn disease

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


biliatresone

A member of the class of benzodioxoles that is 1,3-benzodioxole which is substituted at positions 5 by  a 2-(2-hydroxyphenyl)-3-oxoprop-1-en-3-yl group and at positions 4 and 6 by methoxy groups. A very rare type of isoflavonoid-related 1,2-diaryl-2-propenone found in Dysphania glomulifera (red crumbweed) and D. littoralis, the enone moiety is particularly reactive, undergoing ready Michael addition of water and methanol. Biliatresone has been found to cause extrahepatic biliary atresia (obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction to bile flow) in a zebrafish model.


FAD1_HUMAN FAD synthase (sprot)

An FAD synthase that is encoded in the genome of human.


An ethyl ester resulting from the formal condensation of the carboxy group of 4-{4-[(5-nitrofuran-2-yl)methylidene]-3,5-dioxopyrazolidin-1-yl}benzoic acid with ethanol. It is an irreversible and cell-permeable inhibitor of ubiquitin-activating enzyme E1.


name: AKP8L_HUMAN A-kinase anchor protein 8-like (sprot)

description: An A-kinase anchor protein 8-like that is encoded in the genome of human.


name: childhood onset GLUT1 deficiency syndrome 2

description: A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.


tyrosinemia type III

description: Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.


caudal regression sequence

description: Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.


AMPQ_HUMAN Aminopeptidase Q (sprot)

A laeverin that is encoded in the genome of human.


name: ARMC8_HUMAN Armadillo repeat-containing protein 8 (sprot)

description: An armadillo repeat-containing protein 8 that is encoded in the genome of human.


name: TRM2A_HUMAN tRNA (uracil-5-)-methyltransferase homolog A (sprot)

description: A tRNA (uracil-5-)-methyltransferase homolog A that is encoded in the genome of human.


SYT10_HUMAN Synaptotagmin-10 (sprot)

A synaptotagmin-10 that is encoded in the genome of human.


cathine

An amphetamine that is propylbenzene substituted by a hydroxy group at position 1 and by an amino group at position 2 (the 1S,2S-stereoisomer).


OPT_HUMAN Opticin (sprot)

An opticin that is encoded in the genome of human.


cardiovascular syphilis

description: A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.


name: IFT80_HUMAN Intraflagellar transport protein 80 homolog (sprot)

description: An intraflagellar transport protein 80 that is encoded in the genome of human.


name: GBP7_HUMAN Guanylate-binding protein 7 (sprot)

description: A guanylate-binding protein 7 that is encoded in the genome of human.


name: VAMP5_HUMAN Vesicle-associated membrane protein 5 (sprot)

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


anaphylaxis

description: An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.


name: MFD4A_HUMAN Major facilitator superfamily domain-containing protein 4A (sprot)

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


pulmonary amyloidosis

description: A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.


name: CAH10_HUMAN Carbonic anhydrase-related protein 10 (sprot)

description: A carbonic anhydrase-related protein 10 that is encoded in the genome of human.


name: GBG13_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 that is encoded in the genome of human.


meconium ileus

description: Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.


SYNPR_HUMAN Synaptoporin (sprot)

A synaptoporin that is encoded in the genome of human.


Global systolic dysfunction

description: A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.


name: TMM43_HUMAN Transmembrane protein 43 (sprot)

description: A transmembrane protein 43 that is encoded in the genome of human.


PIPERITONE

A p-menthane monoterpenoid that is cyclohex-2-en-1-one substituted by a methyl group at position 3 and an isopropyl group at position 6.


N-acylhomoserine

An N-acyl-amino acid consisting of homoserine bearing an unspecified N-acyl substituent.


name: LUZP6_HUMAN Leucine zipper protein 6 (sprot)

description: A leucine zipper protein 6 that is encoded in the genome of human.


name: RLGPB_HUMAN Ral GTPase-activating protein subunit beta (sprot)

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


Charcot-Marie-Tooth disease type 2D

description: Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


TRAZODONE HYDROCHLORIDE

A hydrochloride salt prepared from equimolar amounts of trazodone and hydrogen chloride.


name: TRI51_HUMAN Tripartite motif-containing protein 51 (sprot)

description: A tripartite motif-containing protein 51 that is encoded in the genome of human.


name: MED28_HUMAN Mediator of RNA polymerase II transcription subunit 28 (sprot)

description: A mediator of RNA polymerase II transcription subunit 28 that is encoded in the genome of human.


F222A_HUMAN Protein FAM222A (sprot)

A protein FAM222A that is encoded in the genome of human.


Coffin-Lowry syndrome

description: A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.


ethisterone

A 17beta-hydroxy steroid that is testosterone in which the 17beta hydrogen is replaced by an ethynyl group. Ethisterone was the first orally active progestin and is a metabolite of danazol.


name: GATD1_HUMAN GATA zinc finger domain-containing protein 1 (sprot)

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


cholangiolocellular carcinoma

description: An intrahepatic cholangiocarcinoma that arises from the canals of Hering.


name: YYAP1_HUMAN YY1-associated protein 1 (sprot)

description: A YY1-associated protein 1 that is encoded in the genome of human.


name: ALG5_HUMAN Dolichyl-phosphate beta-glucosyltransferase (sprot)

description: A dolichyl-phosphate beta-glucosyltransferase that is encoded in the genome of human.


name: RSLBA_HUMAN Ras-like protein family member 11A (sprot)

description: A Ras-like protein family member 11A that is encoded in the genome of human.


name: SKI8_HUMAN Superkiller complex protein 8 (sprot)

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


sapienic acid

A hexadecenoic acid in which the double bond is located at position 6 (the Z-geoisomer). A major component of human sebaceous lipids that is involved in skin self-sterilisation and atopic dermatitis amelioration.


name: AL2CL_HUMAN ALS2 C-terminal-like protein (sprot)

description: An ALS2 C-terminal-like protein that is encoded in the genome of human.


Kleefstra syndrome

description: A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.


RIPP2_HUMAN Protein ripply2 (sprot)

A protein ripply2 that is encoded in the genome of human.


juvenile polymyositis

description: An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.


age related macular degeneration 1

description: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.


(-)-USNIC ACID

The (-)-enantiomer of usnic acid.


suppurative lymphadenitis

description: A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.


name: TIM14_HUMAN Mitochondrial import inner membrane translocase subunit TIM14 (sprot)

description: A mitochondrial import inner membrane translocase subunit TIM14 that is encoded in the genome of human.


trichothiodystrophy

description: Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).


round cell liposarcoma

description: A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.


hamartoma

description: A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.


atypical polypoid adenomyoma

description: An adenomyoma characterized by the presence of marked glandular architectural complexity.


name: SSRG_HUMAN Translocon-associated protein subunit gamma (sprot)

description: A translocon-associated protein subunit gamma that is encoded in the genome of human.


KAD8_HUMAN Adenylate kinase 8 (sprot)

An adenylate kinase 8 that is encoded in the genome of human.


Mirizzi syndrome

description: Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.


name: TTLL6_HUMAN Tubulin polyglutamylase TTLL6 (sprot)

description: A tubulin polyglutamylase TTLL6 that is encoded in the genome of human.


Severe cytomegalovirus infection

description: An unusually severe infection by cytomegalovirus.


name: ADAT2_HUMAN tRNA-specific adenosine deaminase 2 (sprot)

description: A tRNA-specific adenosine deaminase 2 that is encoded in the genome of human.


DAPHNORETIN

A member of the class of coumarins that is coumarin substituted by a hydroxy group at position 7, a methoxy group at position 6 and a (2-oxo-2H-chromen-7-yl)oxy group at position 3.


1-deoxy-D-xylulose 5-phosphate

The 5-phospho derivative of 1-deoxy-D-xylulose.


AZELASTINE HYDROCHLORIDE

The hydrochloride salt of azelastine.


acetazolamide-responsive myotonia

description: Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).


name: FOXB1_HUMAN Forkhead box protein B1 (sprot)

description: A forkhead box protein B1 that is encoded in the genome of human.


name: FREM2_HUMAN FRAS1-related extracellular matrix protein 2 (sprot)

description: A FRAS1-related extracellular matrix protein 2 that is encoded in the genome of human.


classic galactosemia

description: Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


name: CNTP3_HUMAN Contactin-associated protein-like 3 (sprot)

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


VERATRAMINE

A piperidine alkaloid comprising the 14,15,16,17-tetradehydro derivative of veratraman having two hydroxy groups at the 3- and 23-positions.


name: LACTB_HUMAN Serine beta-lactamase-like protein LACTB, mitochondrial (sprot)

description: A serine beta-lactamase-like protein LACTB, mitochondrial that is encoded in the genome of human.


name: BPIB2_HUMAN BPI fold-containing family B member 2 (sprot)

description: A BPI fold-containing family B member 2 that is encoded in the genome of human.


Hirsutism

description: Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).


bilirubin encephalopathy

description: A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.


name: NDST4_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 (sprot)

description: A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 that is encoded in the genome of human.


salivary gland disorder

description: A disease involving the saliva-secreting gland.


neuronal ceroid lipofuscinosis 2

description: A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


colon carcinoma in situ

description: A in situ carcinoma that involves the colon.


name: ISCA2_HUMAN Iron-sulfur cluster assembly 2 homolog, mitochondrial (sprot)

description: An iron-sulfur cluster assembly 2, mitochondrial that is encoded in the genome of human.


name: ZRAB2_HUMAN Zinc finger Ran-binding domain-containing protein 2 (sprot)

description: A zinc finger Ran-binding domain-containing protein 2 that is encoded in the genome of human.


name: PSMA8_HUMAN Proteasome subunit alpha-type 8 (sprot)

description: A proteasome subunit alpha-type 8 that is encoded in the genome of human.


name: REEP3_HUMAN Receptor expression-enhancing protein 3 (sprot)

description: A receptor expression-enhancing protein 3 that is encoded in the genome of human.


name: HSF5_HUMAN Heat shock factor protein 5 (sprot)

description: A heat shock factor protein 5 that is encoded in the genome of human.


name: AT1B3_HUMAN Sodium/potassium-transporting ATPase subunit beta-3 (sprot)

description: A sodium/potassium-transporting ATPase subunit beta-3 that is encoded in the genome of human.


dodecyltrimethylammonium bromide

A quarternary ammonium cation having one dodecyl and three methyl substituents around the central nitrogen.


An N-acetylgalactosamine-6-sulfatase that is encoded in the genome of human.


cheek mucosa cancer

description: A malignant neoplasm involving the buccal mucosa.


DOLUTEGRAVIR SODIUM

An organic sodium salt that is the monosodium salt of dolutegravir. Used for treatment of HIV-1.


name: HOT_HUMAN Hydroxyacid-oxoacid transhydrogenase, mitochondrial (sprot)

description: A hydroxyacid-oxoacid transhydrogenase, mitochondrial that is encoded in the genome of human.


name: DRGX_HUMAN Dorsal root ganglia homeobox protein (sprot)

description: A dorsal root ganglia homeobox protein that is encoded in the genome of human.


SHLB2_HUMAN Endophilin-B2 (sprot)

An endophilin-B2 that is encoded in the genome of human.


orofaciodigital syndrome I

description: A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.


name: VATG2_HUMAN V-type proton ATPase subunit G 2 (sprot)

description: A V-type proton ATPase subunit G 2 that is encoded in the genome of human.


name: GLT12_HUMAN Polypeptide N-acetylgalactosaminyltransferase 12 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 12 that is encoded in the genome of human.


name: BBS10_HUMAN Bardet-Biedl syndrome 10 protein (sprot)

description: A Bardet-Biedl syndrome 10 protein that is encoded in the genome of human.


SPI2_HUMAN Serpin I2 (sprot)

A serpin I2 that is encoded in the genome of human.


DOXYCYCLINE

The monohydrate form of doxycycline. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis.


Progressive leukoencephalopathy

description: Leukoencephalopathy that gets more severe with time.


name: ENASE_HUMAN Cytosolic endo-beta-N-acetylglucosaminidase (sprot)

description: A cytosolic endo-beta-N-acetylglucosaminidase that is encoded in the genome of human.


name: STAR5_HUMAN StAR-related lipid transfer protein 5 (sprot)

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


anovulation

description: The absence of ovulation.


Pitt-Hopkins syndrome

description: Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.


A member of the class of pyrazolopyrimidines that is pyrazolo[3,4-d]pyrimidin-4-amine bearing additional tert-butyl and 3-bromobenzyl substituents at positions 1 and 3 respectively. It is an ATP-competitive inhibitor of CDPK1 and AKT kinase.


name: TCHL1_HUMAN Trichohyalin-like protein 1 (sprot)

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


A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure.


BIPHENYL

A benzenoid aromatic compound that consists of two benzene rings connected by a single covalent bond. Biphenyl occurs naturally in coal tar, crude oil, and natural gas. Formerly used as a fungicide for citrus crops.


name: CLC4F_HUMAN C-type lectin domain family 4 member F (sprot)

description: A C-type lectin domain family 4 member F that is encoded in the genome of human.


gamma-lactone

A lactone having a five-membered lactone ring.


RIPL2_HUMAN RILP-like protein 2 (sprot)

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


Small intestinal polyposis

description: The presence of multiple polyps in the small intestine.


name: ASB7_HUMAN Ankyrin repeat and SOCS box protein 7 (sprot)

description: An ankyrin repeat and SOCS box protein 7 that is encoded in the genome of human.


name: IPKB_HUMAN cAMP-dependent protein kinase inhibitor beta (sprot)

description: A cAMP-dependent protein kinase inhibitor beta that is encoded in the genome of human.


name: B9D1_HUMAN B9 domain-containing protein 1 (sprot)

description: A B9 domain-containing protein 1 that is encoded in the genome of human.


mefuparib hydrochloride

The hydrochloride salt of mefuparib. It is a potent poly(ADP-ribose) polymerase inhibitor which exhibits strong anticancer activity and also inhibits SARS-CoV-2 in cell culture.


name: PEX12_HUMAN Peroxisome assembly protein 12 (sprot)

description: A peroxisome assembly protein 12 that is encoded in the genome of human.


name: FWCH2_HUMAN FLYWCH family member 2 (sprot)

description: A FLYWCH family member 2 that is encoded in the genome of human.


indolent systemic mastocytosis

description: Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.


name: short-rib thoracic dysplasia 6 with or without polydactyly

description: A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.


vitiligo

description: Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.


serous glue ear

description: Chronic form of serous otitis media.


secondary polycythemia

description: Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).


cap myopathy

description: Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.


eclampsia

description: A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.


geleophysic dysplasia

description: Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').


name: 2AAB_HUMAN Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform (sprot)

description: A serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform that is encoded in the genome of human.


name: CRCM_HUMAN Colorectal mutant cancer protein (sprot)

description: A colorectal mutant cancer protein that is encoded in the genome of human.


name: TBC23_HUMAN TBC1 domain family member 23 (sprot)

description: A TBC1 domain family member 23 that is encoded in the genome of human.


complement deficiency

description: A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.


esophageal disorder

description: A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.


P2Y13_HUMAN P2Y purinoceptor 13 (sprot)

A P2Y purinoceptor 13 that is encoded in the genome of human.


Stage 4 chronic kidney disease

description: A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).


arthrogryposis

description: A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.


name: PO6F2_HUMAN POU domain, class 6, transcription factor 2 (sprot)

description: A POU domain, class 6, transcription factor 2 that is encoded in the genome of human.


name: FXL16_HUMAN F-box/LRR-repeat protein 16 (sprot)

description: An F-box/LRR-repeat protein 16 that is encoded in the genome of human.


name: BHE23_HUMAN Class E basic helix-loop-helix protein 23 (sprot)

description: A class E basic helix-loop-helix protein 23 that is encoded in the genome of human.


Sertoli-Leydig cell tumor

description: A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.


musk xylene

A C-nitro compound that is m-xylene bearing three nitro substituents at positions 2, 4 and 6 as well as a tert-butyl group at position 5.


name: VP33A_HUMAN Vacuolar protein sorting-associated protein 33A (sprot)

description: A vacuolar protein sorting-associated protein 33A that is encoded in the genome of human.


name: PPARG-related familial partial lipodystrophy


placenta disorder

description: A disease involving the placenta.


ovarian fibroma

description: A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.


name: TTYH3_HUMAN Protein tweety homolog 3 (sprot)

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


zuranolone

A 3-hydroxy steroid that is 5beta-19-norpregnane substituted by hydroxy, methyl, oxo, and 4-cyano-1H-pyrazol-1-yl groups at positions 3, 3, 20 and 21, respectively. It is a positive allosteric modulator of GABAA receptor developed by Sage Therapeutics and Biogen for the treatment of postpartum depression in adults.


scleromyxedema

description: Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.


name: COG7_HUMAN Conserved oligomeric Golgi complex subunit 7 (sprot)

description: A conserved oligomeric Golgi complex subunit 7 that is encoded in the genome of human.


name: NAT14_HUMAN Probable N-acetyltransferase 14 (sprot)

description: A probable N-acetyltransferase 14 that is encoded in the genome of human.


name: UTP16_HUMAN U3 small nucleolar RNA-associated protein NOL7 (sprot)

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


name: NFXL1_HUMAN NF-X1-type zinc finger protein NFXL1 (sprot)

description: An NF-X1-type zinc finger protein NFXL1 that is encoded in the genome of human.


name: BCAS3_HUMAN BCAS3 microtubule associated cell migration factor (sprot)

description: A BCAS3 microtubule associated cell migration factor that is encoded in the genome of human.


name: PWP2B_HUMAN PWWP domain-containing protein 2B (sprot)

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


name: ATP5H_HUMAN ATP synthase subunit d, mitochondrial (sprot)

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


name: DCAF6_HUMAN DDB1- and CUL4-associated factor 6 (sprot)

description: A DDB1- and CUL4-associated factor 6 that is encoded in the genome of human.


name: OR4M1_HUMAN Olfactory receptor 4M1 (sprot)

description: An olfactory receptor 4M1 that is encoded in the genome of human.


name: TM10C_HUMAN tRNA methyltransferase 10 homolog C (sprot)

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


name: FNTA_HUMAN Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha (sprot)

description: A protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha that is encoded in the genome of human.


retroperitoneal leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.


name: PLDX1_HUMAN Plexin domain-containing protein 1 (sprot)

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


Pearson syndrome

description: Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.


Koolen-de Vries syndrome

description: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.


name: TACO1_HUMAN Translational activator of cytochrome c oxidase 1 (sprot)

description: A translational activator of cytochrome c oxidase 1 that is encoded in the genome of human.


name: ENOPH_HUMAN Enolase-phosphatase E1 (sprot)

description: An enolase-phosphatase E1 that is encoded in the genome of human.


UPK3B_HUMAN Uroplakin-3b (sprot)

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


dibromotyrosine

A bromoamino acid that is L-tyrosine carrying bromo- substituents at positions C-3 and C-5 of the benzyl group.


MUC15_HUMAN Mucin-15 (sprot)

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


SUCCINCHLORIMIDE

A five-membered cyclic dicarboximide compound having a chloro substituent on the nitrogen atom.


SYNCI_HUMAN Syncoilin (sprot)

A syncoilin that is encoded in the genome of human.


name: PC11Y_HUMAN Protocadherin-11 Y-linked (sprot)

description: A protocadherin-11 Y-linked that is encoded in the genome of human.


tracheomalacia

description: Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.


SNG2_HUMAN Synaptogyrin-2 (sprot)

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


name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

description: An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.


APCDL_HUMAN Protein APCDD1-like (sprot)

A protein APCDD1-like that is encoded in the genome of human.


undifferentiated round cell sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.


pancreatic mucinous cystadenocarcinoma

description: A mucinous cystadenocarcinoma that involves the pancreas.


PKHL1_HUMAN Fibrocystin-L (sprot)

A fibrocystin-L that is encoded in the genome of human.


perianal Crohn disease

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


name: GPR25_HUMAN Probable G-protein coupled receptor 25 (sprot)

description: A probable G-protein coupled receptor 25 that is encoded in the genome of human.


name: CARF_HUMAN CDKN2A-interacting protein (sprot)

description: A CDKN2A-interacting protein that is encoded in the genome of human.


name: RGPD1_HUMAN RANBP2-like and GRIP domain-containing protein 1 (sprot)

description: A RANBP2-like and GRIP domain-containing protein 1 that is encoded in the genome of human.


name: TESK1_HUMAN Dual specificity testis-specific protein kinase 1 (sprot)

description: A dual specificity testis-specific protein kinase 1 that is encoded in the genome of human.


description: A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.


Caplan syndrome

description: A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.


name: LPCT4_HUMAN Lysophospholipid acyltransferase LPCAT4 (sprot)

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


name: NT5D1_HUMAN 5'-nucleotidase domain-containing protein 1 (sprot)

description: A 5'-nucleotidase domain-containing protein 1 that is encoded in the genome of human.


name: PEAR1_HUMAN Platelet endothelial aggregation receptor 1 (sprot)

description: A platelet endothelial aggregation receptor 1 that is encoded in the genome of human.


TEBUFENOZIDE

A carbohydrazide that is hydrazine in which the amino hydrogens have been replaced by tert-butyl, 3,5-dimethylbenzoyl and 4-ethylbenzoyl groups respectively. It is an insecticide used widely against caterpillars.


name: EFHC1_HUMAN EF-hand domain-containing protein 1 (sprot)

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


azumolene

A 1,3-oxazole which is substituted by a [(2,4-dioxoimidazolidin-1-yl)imino]methyl group at position 2 and a 4-bromophenyl group at position 5. It is a muscle relaxant used for the treatment/prevention of malignant hyperthermia.


name: RHOF_HUMAN Rho-related GTP-binding protein RhoF (sprot)

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


name: S6A19_HUMAN Sodium-dependent neutral amino acid transporter B(0)AT1 (sprot)

description: A sodium-dependent neutral amino acid transporter B(0)AT1 that is encoded in the genome of human.


compound 6a [PMID: 18942826]

A pyridinedicarboxylic acid carrying carboxy groups at positions 2 and 4.


osteochondrodysplasia

description: A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


OGLUFANIDE

A dipeptide composed of L-glutamic acid and L-tryptophan joined by a peptide linkage.


name: SPRY3_HUMAN SPRY domain-containing protein 3 (sprot)

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


Episodic hyperhidrosis

description: Intermittent episodes of abnormally increased perspiration.


Gastrointestinal dysmotility

description: Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


scorpion envenomation

description: Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.


description: T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.


name: CSMD3_HUMAN CUB and sushi domain-containing protein 3 (sprot)

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


name: HEG1_HUMAN Protein HEG homolog 1 (sprot)

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


QUINALDIC ACID

A quinolinemonocarboxylic acid having the carboxy group at the 2-position.


name: G3PT_HUMAN Glyceraldehyde-3-phosphate dehydrogenase, testis-specific (sprot)

description: A glyceraldehyde-3-phosphate dehydrogenase, testis-specific that is encoded in the genome of human.


cerebellar ataxia-hypogonadism syndrome

description: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.


rectosigmoid carcinoma

description: A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.


gluconolactone

An  aldono-1,5-lactone obtained from D-gluconic acid.


name: PBIP1_HUMAN Pre-B-cell leukemia transcription factor-interacting protein 1 (sprot)

description: A pre-B-cell leukemia transcription factor-interacting protein 1 that is encoded in the genome of human.


dysostosis

description: A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.


name: MFR1L_HUMAN Mitochondrial fission regulator 1-like (sprot)

description: A protein FAM54B that is encoded in the genome of human.


name: SPD2B_HUMAN SH3 and PX domain-containing protein 2B (sprot)

description: An SH3 and PX domain-containing protein 2B that is encoded in the genome of human.


name: MIC13_HUMAN MICOS complex subunit MIC13 (sprot)

description: A MICOS complex subunit MIC13 that is encoded in the genome of human.


TACAN_HUMAN Ion channel TACAN (sprot)

An ion channel TACAN that is encoded in the genome of human.


parotid gland cancer

description: A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.


2-oxindole-3-acetic acid

A member of the class of oxindoles that is 2-oxindole carrying a carboxymethyl substituent at position 3.


name: LACRT_HUMAN Extracellular glycoprotein lacritin (sprot)

description: An extracellular glycoprotein lacritin that is encoded in the genome of human.


SYT13_HUMAN Synaptotagmin-13 (sprot)

A synaptotagmin-13 that is encoded in the genome of human.


Ross river fever

description: A disease caused by infection with Ross River virus.


name: PCDB7_HUMAN Protocadherin beta-7 (sprot)

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


tricaine

A methanesulfonate salt obtained by reaction of tricaine with one molar equivalent of methanesulfonic acid. Used as an anaesthetic for fish.


name: VATG1_HUMAN V-type proton ATPase subunit G 1 (sprot)

description: A V-type proton ATPase subunit G 1 that is encoded in the genome of human.


name: neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.


name: LMBL2_HUMAN Lethal(3)malignant brain tumor-like protein 2 (sprot)

description: A lethal(3)malignant brain tumor-like protein 2 that is encoded in the genome of human.


hereditary hypoparathyroidism

description: An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual.


name: MSPD2_HUMAN Motile sperm domain-containing protein 2 (sprot)

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


name: RPGR1_HUMAN X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (sprot)

description: An X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 that is encoded in the genome of human.


TSN13_HUMAN Tetraspanin-13 (sprot)

A tetraspanin-13 that is encoded in the genome of human.


name: P5I13_HUMAN Tumor protein p53-inducible protein 13 (sprot)

description: A tumor protein p53-inducible protein 13 that is encoded in the genome of human.


name: KDSR_HUMAN 3-ketodihydrosphingosine reductase (sprot)

description: A 3-ketodihydrosphingosine reductase that is encoded in the genome of human.


name: adenosine monophosphate deaminase deficiency

description: Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.


name: EID2B_HUMAN EP300-interacting inhibitor of differentiation 2B (sprot)

description: An EP300-interacting inhibitor of differentiation 2B that is encoded in the genome of human.


Esophageal stenosis

description: An abnormal narrowing of the lumen of the esophagus.


name: ALG13_HUMAN UDP-N-acetylglucosamine transferase subunit ALG13 (sprot)

description: A putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 that is encoded in the genome of human.


name: ACAD8_HUMAN Isobutyryl-CoA dehydrogenase, mitochondrial (sprot)

description: An isobutyryl-CoA dehydrogenase, mitochondrial that is encoded in the genome of human.


name: KRA56_HUMAN Keratin-associated protein 5-6 (sprot)

description: A keratin-associated protein 5-6 that is encoded in the genome of human.


2-hydroxy fatty acid

Any fatty acid with a hydroxy functional group in the alpha- or 2-position.


name: ZN239_HUMAN Zinc finger protein 239 (sprot)

description: A zinc finger protein 239 that is encoded in the genome of human.


methacrylyl-CoA

An acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of methacrylic acid.


name: TM41B_HUMAN Transmembrane protein 41B (sprot)

description: A transmembrane protein 41B that is encoded in the genome of human.


name: GP132_HUMAN Probable G-protein coupled receptor 132 (sprot)

description: A probable G-protein coupled receptor 132 that is encoded in the genome of human.


name: ARP10_HUMAN Actin-related protein 10 (sprot)

description: An actin-related protein 10 that is encoded in the genome of human.


Cyanosis

description: Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.


name: FMT_HUMAN Methionyl-tRNA formyltransferase, mitochondrial (sprot)

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


thymus cancer

description: A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.


congenital vascular malformation

description: A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.


cold urticaria

description: Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


coloboma of choroid and retina

description: Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.


limbic encephalitis

description: A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.


MYMK_HUMAN Protein myomaker (sprot)

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


name: EMID1_HUMAN EMI domain-containing protein 1 (sprot)

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


PCD12_HUMAN Protocadherin-12 (sprot)

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


name: C56D2_HUMAN Transmembrane reductase CYB561D2 (sprot)

description: A transmembrane reductase CYB561D2 that is encoded in the genome of human.


azlocillin

A semisynthetic penicillin having a 6beta-{(2R)-2-[(2-oxoimidazolidine-1-carbonyl)amino]-2-phenylacetyl}amino side-group. It is an antibiotic used in treating infections caused by Pseudomonas aeruginosa, Escherichia coli and Haemophilus influenzae.


name: HERC4_HUMAN Probable E3 ubiquitin-protein ligase HERC4 (sprot)

description: A probable E3 ubiquitin-protein ligase HERC4 that is encoded in the genome of human.


name: Decreased proportion of CD8-positive T cells

description: A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.


name: ZFR_HUMAN Zinc finger RNA-binding protein (sprot)

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


name: DSCL1_HUMAN Cell adhesion molecule DSCAML1 (sprot)

description: A cell adhesion molecule DSCAML1 that is encoded in the genome of human.


VORTIOXETINE HYDROBROMIDE

A hydrobromide obtained by combining vortioxetine with one molar equivalent of hydrobromic acid. Used for treatment of major depressive disorder.


name: RHXF2_HUMAN Rhox homeobox family member 2 (sprot)

description: A rhox homeobox family member 2 that is encoded in the genome of human.


D-2-hydroxyglutaric aciduria

description: D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.


viral encephalitis

description: Encephalitis resulting from viral infection.


name: SORC3_HUMAN VPS10 domain-containing receptor SorCS3 (sprot)

description: A VPS10 domain-containing receptor SorCS3 that is encoded in the genome of human.


nonsyndromic congenital nail disorder 2

description: The natural longitudinal (posterodistal) convex arch is not present or is inverted.


name: DPOLQ_HUMAN DNA polymerase theta (sprot)

description: A DNA polymerase theta that is encoded in the genome of human.


calcium glycerylphosphate

An organic calcium salt having glycerol 2-phosphate(2-) as the counterion.


lysergic acid

An ergoline alkaloid comprising 6-methylergoline having additional unsaturation at the 9,10-position and a carboxy group at the 8-position.


name: AP4M1_HUMAN AP-4 complex subunit mu-1 (sprot)

description: An AP-4 complex subunit mu-1 that is encoded in the genome of human.


nitrile oxide

Compounds having the structure R-C#NO.


Maffucci syndrome

description: Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


name: PC11X_HUMAN Protocadherin-11 X-linked (sprot)

description: A protocadherin-11 X-linked that is encoded in the genome of human.


name: hereditary diffuse gastric adenocarcinoma

description: An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.


ORML2_HUMAN ORM1-like protein 2 (sprot)

An ORM1-like protein 2 that is encoded in the genome of human.


oviedomycin

A member of the class of tetraphenes that is 1,4,7,12-tetrahydrotetraphene substituted by oxo groups at positions 1, 4, 7, and 12, by hydroxy groups at positions 2, 6 and 8, and by a methyl group at position 3. It is a natural product found in Streptomyces antibioticus ATCC 11891 which exhibits cytotoxicity against A549 human lung cancer cells, HepG2 liver cancer cells, and MCF-7 breast cancer cells.


Lyell syndrome

description: Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.


3-phenyllactic acid

A 2-hydroxy monocarboxylic acid that is lactic acid in which one of the methyl hydrogens is substituted by a phenyl group.


XRP2_HUMAN Protein XRP2 (sprot)

A protein XRP2 that is encoded in the genome of human.


name: CCG2_HUMAN Voltage-dependent calcium channel gamma-2 subunit (sprot)

description: A voltage-dependent calcium channel gamma-2 subunit that is encoded in the genome of human.


PIVALATE

A branched, short-chain fatty acid composed of propanoic acid having two methyl substituents at the 2-position.


name: TVA83_HUMAN T cell receptor alpha variable 8-3 (sprot)

description: A protein that is a translation product of the TRAV8-3 gene in human.


name: ZKSC2_HUMAN Zinc finger protein with KRAB and SCAN domains 2 (sprot)

description: A zinc finger protein with KRAB and SCAN domains 2 that is encoded in the genome of human.


name: P4HA3_HUMAN Prolyl 4-hydroxylase subunit alpha-3 (sprot)

description: A prolyl 4-hydroxylase subunit alpha-3 that is encoded in the genome of human.


MIANSERIN HYDROCHLORIDE

The hydrochloride salt of mianserin, a tetracyclic compound with antidepressant effects.


ureter small cell carcinoma

description: A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.


name: LPPRC_HUMAN Leucine-rich PPR motif-containing protein, mitochondrial (sprot)

description: A leucine-rich PPR motif-containing protein, mitochondrial that is encoded in the genome of human.


name: RGS22_HUMAN Regulator of G-protein signaling 22 (sprot)

description: A regulator of G-protein signaling 22 that is encoded in the genome of human.


Schwartz-Jampel syndrome

description: A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).


name: ULBP5_HUMAN UL-16 binding protein 5 (sprot)

description: A UL-16 binding protein 5 that is encoded in the genome of human.


carotid stenosis

description: A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.


name: NR2CA_HUMAN Nuclear receptor 2C2-associated protein (sprot)

description: A nuclear receptor 2C2-associated protein that is encoded in the genome of human.


hemangioma of subcutaneous tissue

description: A hemangioma arising from the subcutaneous soft tissues.


Wolfram syndrome 2

description: Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.


ioflupane

An azabicycloalkane that is ecgonine methyl ester in which the N-methyl group is replaced by 3-fluoropropyl and the 3beta-hydroxy group is replaced by 4-((123)I)iodophenyl. Used for the imaging of dopamine transporters in the brain of adult patients with potential Parkinsonian Syndromes.


A 3-acyl-sn-glycerol that is the R-enantiomer of 2,3-dihydroxypropyl decanoate.


camphorsulfonic acid

A sulfonic acid containing the camphorsulfonate anion.


Progressive massive fibrosis

description: This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.


sebocystomatosis

description: Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.


alginate

The ionic polymer obtained by global deprotonation of the carboxy groups of alginic acid; major species at pH 7.3.


trichomoniasis

description: An infection that is caused by Trichomonas.


cefozopran

A fourth-generation cephalosporin antibiotic having imidazo[1,2-b]pyridazin-1-ium-1-ylmethyl and [(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino side groups located at positions 3 and 7 respectively.


EPITESTOSTERONE

An androstanoid that is the C-17 epimer of testosterone.


platelet-type von Willebrand disease

description: A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.


INTU_HUMAN Protein inturned (sprot)

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


name: THAP5_HUMAN THAP domain-containing protein 5 (sprot)

description: A THAP domain-containing protein 5 that is encoded in the genome of human.


name: PUS3_HUMAN tRNA pseudouridine(38/39) synthase (sprot)

description: A tRNA pseudouridine synthase 3 that is encoded in the genome of human.


salpingitis

description: Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.


anandamide

An N-acylethanolamine 20:4 resulting from the formal condensation of carboxy group of arachidonic acid with the amino group of ethanolamine.


bone fibrosarcoma

description: A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


GPBP1_HUMAN Vasculin (sprot)

A vasculin that is encoded in the genome of human.


name: KATL2_HUMAN Katanin p60 ATPase-containing subunit A-like 2 (sprot)

description: A katanin p60 ATPase-containing subunit A-like 2 that is encoded in the genome of human.


aconitic acid

A tricarboxylic acid that is prop-1-ene substituted by carboxy groups at positions 1, 2 and 3.


NUTM1_HUMAN NUT family member 1 (sprot)

A NUT family member 1 that is encoded in the genome of human.


name: DNAI7_HUMAN Dynein axonemal intermediate chain 7 (sprot)

description: A dynein axonemal intermediate chain 7 that is encoded in the genome of human.


description: Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.


name: ADAS_HUMAN Alkyldihydroxyacetonephosphate synthase, peroxisomal (sprot)

description: An alkyldihydroxyacetonephosphate synthase, peroxisomal that is encoded in the genome of human.


diaphragm disorder

description: A disease involving the diaphragm.


name: FBX28_HUMAN F-box only protein 28 (sprot)

description: An F-box only protein 28 that is encoded in the genome of human.


DL-ethionine

A racemate comprising equimolar amounts of D- and L-ethionine.


boromycin

A boron-containing macrolide antibiotic that is isolated from Streptomyces antibioticus.


alpha-L-iduronic acid

A L-idopyranuronic acid with an alpha-configuration at the anomeric position.


name: B2L14_HUMAN Apoptosis facilitator Bcl-2-like protein 14 (sprot)

description: An apoptosis facilitator Bcl-2-like protein 14 that is encoded in the genome of human.


name: SPR2A_HUMAN Small proline-rich protein 2A (sprot)

description: A small proline-rich protein 2A that is encoded in the genome of human.


name: PLAC4_HUMAN Placenta-specific protein 4 (sprot)

description: A placenta-specific protein 4 that is encoded in the genome of human.


tracheobronchitis

description: Inflammation of the tracheobronchial tree.


A member of the class of  tryptamines  that is melatonin with a hydroxy group substituent at position 6.


HIV wasting syndrome

description: Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).


intrinsic asthma

description: An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.