LTO1_HUMAN Protein LTO1 homolog (sprot)

A protein LTO1 homolog that is encoded in the genome of human.


name: GP139_HUMAN Probable G-protein coupled receptor 139 (sprot)

description: A probable G-protein coupled receptor 139 that is encoded in the genome of human.


A benzofuropyrimidine that is 3,4-dihydro[1]benzofuro[3,2-d]pyrimidine substituted by (2S)-pyrrolidin-2-yl, oxo and chloro groups at positions 2, 4, and 8, respectively. It is a potent ATP competitive inhibitor of Cdc7 kinase (IC50 = 3.4 nM) and exhibits anticancer properties.


BICOZAMYCIN

A commercially important azabicyclic antibiotic obtained from Streptomyces sapporonensis. It inhibits the Rho protein of E. coli.


autosomal dominant Parkinson disease 8

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

description: Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.


melanoma associated retinopathy

description: Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.


name: LCORL_HUMAN Ligand-dependent nuclear receptor corepressor-like protein (sprot)

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


vulvar syringoma

description: A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.


Antinuclear antibody positivity

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

description: The presence of autoantibodies in the serum that react against nuclei or nuclear components.


name: KATL1_HUMAN Katanin p60 ATPase-containing subunit A-like 1 (sprot)

description: A katanin p60 ATPase-containing subunit A-like 1 that is encoded in the genome of human.


dysgraphia

description: Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)


name: FRPD1_HUMAN FERM and PDZ domain-containing protein 1 (sprot)

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


Petechiae

description: Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.


MDM1_HUMAN Nuclear protein MDM1 (sprot)

A nuclear protein MDM1 that is encoded in the genome of human.


name: MAOM_HUMAN NAD-dependent malic enzyme, mitochondrial (sprot)

description: An NAD-dependent malic enzyme, mitochondrial that is encoded in the genome of human.


benzylpenicilloyl polylysine

Poly-L-lysine (n > 40) in which 50-70% of the epsilon-amino groups are substituted with benzylpenicilloyl groups. It is used as a skin-testing reagent to detect immunoglobulin E antibodies in people with a history of penicillin allergy.


hyperplastic polyposis syndrome

description: Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.


name: KCNF1_HUMAN Potassium voltage-gated channel subfamily F member 1 (sprot)

description: A voltage-gated potassium channel KCNF1 that is encoded in the genome of human.


alpha-L-glucose

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


4-ethylphenyl sulfate

An aryl sulfate that is 4-ethylphenol in which the hydroxy group has been replaced by a sulfooxy group.


45,X/46,XY mixed gonadal dysgenesis

description: 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.


name: LIN7C_HUMAN Protein lin-7 homolog C (sprot)

description: A protein lin-7 homolog C that is encoded in the genome of human.


A 2-oxo monocarboxylic acid anion that is the conjugate base of 4-methyl-2-oxopentanoic acid.


mycotoxicosis

description: Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).


name: RBM48_HUMAN RNA-binding protein 48 (sprot)

description: An RNA-binding protein 48 that is encoded in the genome of human.


APOC4_HUMAN Apolipoprotein C-IV (sprot)

An apolipoprotein C-IV that is encoded in the genome of human.


name: SIA7E_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (sprot)

description: An alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 that is encoded in the genome of human.


amyotrophic lateral sclerosis type 6

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


name: PP4P2_HUMAN Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase (sprot)

description: A type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase that is encoded in the genome of human.


name: NIPA3_HUMAN Magnesium transporter NIPA3 (sprot)

description: A magnesium transporter NIPA3 that is encoded in the genome of human.


periodate

A monovalent inorganic anion obtained by deprotonation of periodic acid.


name: UB2D4_HUMAN Ubiquitin-conjugating enzyme E2 D4 (sprot)

description: A ubiquitin-conjugating enzyme E2 D4 that is encoded in the genome of human.


name: LRC49_HUMAN Leucine-rich repeat-containing protein 49 (sprot)

description: A leucine-rich repeat-containing protein 49 that is encoded in the genome of human.


name: DEN4C_HUMAN DENN domain-containing protein 4C (sprot)

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


name: GP142_HUMAN Probable G-protein coupled receptor 142 (sprot)

description: A probable G-protein coupled receptor 142 that is encoded in the genome of human.


Fetal distress

description: An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.


The simplest member of the class of neoflavones that is coumarin substituted by a phenyl group at position 4.


THIOUREA

The simplest member of the thiourea class, consisting of urea with the oxygen atom substituted by sulfur.


steviolbioside

A beta-D-glucoside that is steviolmonoside in which the hydroxy group at position 2 of the glucoside moiety has been converted into its beta-D-glucoside.


name: WDR44_HUMAN WD repeat-containing protein 44 (sprot)

description: A WD repeat-containing protein 44 that is encoded in the genome of human.


Transient hearing impairment

description: Hearing loss that occurs acutely and resolves completely.


name: GPI8_HUMAN GPI-anchor transamidase (sprot)

description: A GPI-anchor transamidase that is encoded in the genome of human.


undifferentiated pancreatic carcinoma

description: A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.


name: Unbalanced atrioventricular canal defect

description: Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).


Anasarca

description: An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.


Disseminated viral infection

description: A viral infection that fails to be contained by the immune sytem and spreads throughout the body.


name: ZCH10_HUMAN Zinc finger CCHC domain-containing protein 10 (sprot)

description: A zinc finger CCHC domain-containing protein 10 that is encoded in the genome of human.


DEMECLOCYCLINE HYDROCHLORIDE

The hydrochloride salt of demeclocycline. A tetracycline antibiotic, it is used (mainly as the hydrochloride) for the treatment of Lyme disease, acne and bronchitis, as well as for hyponatraemia (low blood sodium concentration) due to the syndrome of inappropriate antidiuretic hormone (SIADH) where fluid restriction alone has been ineffective.


name: MOCS1_HUMAN Molybdenum cofactor biosynthesis protein 1 (sprot)

description: A molybdenum cofactor biosynthesis protein 1 that is encoded in the genome of human.


name: GMPPB_HUMAN Mannose-1-phosphate guanyltransferase beta (sprot)

description: A mannose-1-phosphate guanyltransferase beta that is encoded in the genome of human.


tropical pancreatitis

description: Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.


name: PSMG4_HUMAN Proteasome assembly chaperone 4 (sprot)

description: A proteasome assembly chaperone 4 that is encoded in the genome of human.


name: ZN195_HUMAN Zinc finger protein 195 (sprot)

description: A zinc finger protein 195 that is encoded in the genome of human.


atypical depressive disorder

description: A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.


acquired ichthyosis

description: Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.


amperozide

A member of the class of ureas that is urea in which three of the four hydrogens are replaced by ethyl and 4-[4,4-bis(4-fluorophenyl)butyl]piperazin-1-yl groups. An atypical antipsychotic which was in clinical development for the treatment of schizophrenia and substance-related disorders. It is a potent 5-HT2A antagonist and used in veterinary medicine because of its sedative effect on pigs.


benzyl nicotinate

A benzyl ester resulting from the formal condensation of the carboxy group of nicotinic acid with benzyl alcohol. It has been used as a rubefacient.


pleomorphic breast carcinoma

description: A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.


name: HSFY1_HUMAN Heat shock transcription factor, Y-linked (sprot)

description: A heat shock transcription factor, Y-linked that is encoded in the genome of human.


name: TMM25_HUMAN Transmembrane protein 25 (sprot)

description: A transmembrane protein 25 that is encoded in the genome of human.


lipoid proteinosis

description: Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.


respiratory tract neoplasm

description: A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.


melanotic neurilemmoma

description: A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.


name: PGM1-congenital disorder of glycosylation


name: CENPM_HUMAN Centromere protein M (sprot)

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


name: T53G3_HUMAN TP53-target gene 3 protein (sprot)

description: A TP53-target gene 3 protein that is encoded in the genome of human.


name: S22AK_HUMAN Solute carrier family 22 member 20 (sprot)

description: A solute carrier family 22 member 20 that is encoded in the genome of human.


name: SH3R3_HUMAN E3 ubiquitin-protein ligase SH3RF3 (sprot)

description: An E3 ubiquitin-protein ligase SH3RF3 that is encoded in the genome of human.


name: diffuse large B-cell lymphoma of the central nervous system

description: A diffuse large B-cell lymphoma arising from the central nervous system.


name: PCMD2_HUMAN Protein-L-isoaspartate O-methyltransferase domain-containing protein 2 (sprot)

description: A protein-L-isoaspartate O-methyltransferase domain-containing protein 2 that is encoded in the genome of human.


papillary epithelial neoplasm

description: A benign, intermediate, or malignant neoplasm characterized by the presence of papillae lined by epithelial cells.


name: COMA1_HUMAN Collagen alpha-1(XXII) chain (sprot)

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


luteolin 3'-O-glucuronide

A luteolin glucosiduronic acid consisting of luteolin having a beta-D-glucosiduronic acid residue attached at the 3'-position.


name: IP3KA_HUMAN Inositol-trisphosphate 3-kinase A (sprot)

description: An inositol-trisphosphate 3-kinase A that is encoded in the genome of human.


FLUAZURON

An N-acylurea that is urea in which one of the hydrogens has been replaced by a 3,6-difluorobenzoyl group, while a hydrogen attached to the other nitrogen has been replaced by a 4-chloro-3-{[3-chloro-5-(trifluoromethyl)pyridin-2-yl]oxy}phenyl group. It is used to control ticks in cattle.


GLUT1 deficiency syndrome

description: An epileptic encephalopathy resulting from impaired glucose transport into the brain.


scrotal carcinoma

description: A carcinoma that arises from epithelial cells of the scrotum.


LANC3_HUMAN LanC-like protein 3 (sprot)

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


occipital lobe neoplasm

description: A neoplasm involving a occipital lobe.


name: CNO11_HUMAN CCR4-NOT transcription complex subunit 11 (sprot)

description: A CCR4-NOT transcription complex subunit 11 that is encoded in the genome of human.


name: ANR10_HUMAN Ankyrin repeat domain-containing protein 10 (sprot)

description: An ankyrin repeat domain-containing protein 10 that is encoded in the genome of human.


name: LINES_HUMAN Protein Lines homolog 1 (sprot)

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


dehydrated hereditary stomatocytosis

description: Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.


name: EIF3L_HUMAN Eukaryotic translation initiation factor 3 subunit L (sprot)

description: A eukaryotic translation initiation factor 3 subunit L that is encoded in the genome of human.


Decreased mean corpuscular volume

description: A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).


fetal erythroblastosis

description: A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.


Sotos syndrome

description: Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.


name: LRIT3_HUMAN Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 (sprot)

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


orbital cellulitis

description: Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.


name: UTY_HUMAN Histone demethylase UTY (sprot)

description: A histone demethylase UTY that is encoded in the genome of human.


ASTN2_HUMAN Astrotactin-2 (sprot)

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


name: HTR5B_HUMAN HEAT repeat-containing protein 5B (sprot)

description: A HEAT repeat-containing protein 5B that is encoded in the genome of human.


name: CERT_HUMAN Ceramide transfer protein (sprot)

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


name: mitochondrial trifunctional protein deficiency

description: Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..


tosylchloramide sodium

Toluene-p-sulfonamide chlorinated at nitrogen.


locked-in syndrome

description: Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.


NUP43_HUMAN Nucleoporin Nup43 (sprot)

A nucleoporin Nup43 that is encoded in the genome of human.


generalized lipodystrophy

description: Almost complete absence of subcutaneous and/or visceral adipose tissue.


name: DAAF6_HUMAN Dynein axonemal assembly factor 6 (sprot)

description: A dynein axonemal assembly factor 6 that is encoded in the genome of human.


name: Hypokalemic hypochloremic metabolic alkalosis


name: TPRGL_HUMAN Tumor protein p63-regulated gene 1-like protein (sprot)

description: A tumor protein p63-regulated gene 1-like protein that is encoded in the genome of human.


mucinous cystadenoma

description: A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.


N-octodecanoylsphinganine

A dihydroceramide in which the ceramide N-acyl group is specified as octadecanoyl (stearoyl).


(R)-atenolol

The (R)-enantiomer of atenolol.


name: DYH9_HUMAN Dynein axonemal heavy chain 9 (sprot)

description: A dynein axonemal heavy chain 9 that is encoded in the genome of human.


YAE1_HUMAN Protein YAE1 homolog (sprot)

A protein YAE1 that is encoded in the genome of human.


name: MYO7B_HUMAN Unconventional myosin-VIIb (sprot)

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


name: KIF28_HUMAN Kinesin-like protein KIF28P (sprot)

description: A protein that is a translation product of the KIF28P gene in human.


name: EIF2D_HUMAN Eukaryotic translation initiation factor 2D (sprot)

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


name: H90B3_HUMAN Putative heat shock protein HSP 90-beta-3 (sprot)

description: A putative heat shock protein HSP 90-beta-3 that is encoded in the genome of human.


mediastinum liposarcoma

description: A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum.


name: NOMO2_HUMAN BOS complex subunit NOMO2 (sprot)

description: A BOS complex subunit NOMO2 that is encoded in the genome of human.


dentinogenesis imperfecta

description: Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.


name: EFCB6_HUMAN EF-hand calcium-binding domain-containing protein 6 (sprot)

description: An EF-hand calcium-binding domain-containing protein 6 that is encoded in the genome of human.


childhood malignant kidney neoplasm

description: A malignant neoplasm that affects the kidney and occurs in childhood.


name: SERF2_HUMAN Small EDRK-rich factor 2 (sprot)

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


oxonitine

A diterpene alkaloid with formula C33H43NO12, originally isolated from Aconitum carmichaeli.


familial melanoma

description: Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.


benign paroxysmal positional vertigo

description: Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.


IFNA7_HUMAN Interferon alpha-7 (sprot)

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


proctocolitis

description: Inflammation of the rectum and colon.


liver carcinoma in situ

description: A carcinoma in situ involving a liver.


ASTN1_HUMAN Astrotactin-1 (sprot)

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


neoplasm of myocardium

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


pyruvate dehydrogenase E3 deficiency

description: Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


name: CEL2B_HUMAN Chymotrypsin-like elastase family member 2B (sprot)

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


MESD_HUMAN LRP chaperone MESD (sprot)

A mesoderm development candidate 2 that is encoded in the genome of human.


mucopolysaccharidosis type 9

description: An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.


Kyrle disease

description: Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.


name: PUR4_HUMAN Phosphoribosylformylglycinamidine synthase (sprot)

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


name: GL8D1_HUMAN Glycosyltransferase 8 domain-containing protein 1 (sprot)

description: A glycosyltransferase 8 domain-containing protein 1 that is encoded in the genome of human.


name: SIGL8_HUMAN Sialic acid-binding Ig-like lectin 8 (sprot)

description: A sialic acid-binding Ig-like lectin 8 that is encoded in the genome of human.


tioxolone

A 1,3-benzoxathiole having a hydroxy substituent at the 6-position.


A organic heterotetracyclic compound that is ellipticine in which the hydrogen at position 9 has been replaced by a hydroxy group.


meningeal sarcoma

description: A rare sarcoma arising from the meninges.


name: LUZP4_HUMAN Leucine zipper protein 4 (sprot)

description: A leucine zipper protein 4 that is encoded in the genome of human.


Photophobia

description: Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.


pheneticillin

A penicillin in which the substituent at position 6 of the penam ring is a 2-phenoxypropanamido group.


name: TNC18_HUMAN Trinucleotide repeat-containing gene 18 protein (sprot)

description: A trinucleotide repeat-containing gene 18 protein that is encoded in the genome of human.


name: ISK9_HUMAN Serine protease inhibitor Kazal-type 9 (sprot)

description: A serine protease inhibitor Kazal-type 9 that is encoded in the genome of human.


adenomatoid tumor

description: A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.


Eosinophilic dermal infiltration

description: Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.


otomycosis

description: Fungus infection of the external ear, usually by aspergillus species


ETHYL VANILLIN

A member of the class of benzaldehydes that is vanillin in which the methoxy group is replaced by an ethoxy group.


ABAFUNGIN

A member of the class of  guanidines that is tetrahydropyrimidin-2(1H)-imine in which the hydrogen of the imino group is replaced by a thiazol-2-yl group which in turn is substituted by a 2-(2,4-dimethylphenoxy)phenyl group at position 4. It has been used for the topical treatment of fungal nail infections.


sexual and gender identity disorders

description: A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.


cerebellar disorder

description: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.


DIBENZOTHIOPHENE

A mancude organic heterotricyclic parent that consists of a thiophene ring flanked by two benzene rings ortho-fused across the 2,3- and 4,5-positions.


name: IPMK_HUMAN Inositol polyphosphate multikinase (sprot)

description: An inositol polyphosphate multikinase that is encoded in the genome of human.


Jaw pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.


name: linear and whorled nevoid hypermelanosis

description: Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.


botryoid rhabdomyosarcoma

description: A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.


Balo concentric sclerosis

description: Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.


hemorrhagic disease of newborn

description: A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.


name: idiopathic malabsorption due to bile acid synthesis defects

description: Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.


name: RNH2A_HUMAN Ribonuclease H2 subunit A (sprot)

description: A ribonuclease H2 subunit A that is encoded in the genome of human.


name: RUXG_HUMAN Small nuclear ribonucleoprotein G (sprot)

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


name: CE350_HUMAN Centrosome-associated protein 350 (sprot)

description: A centrosome-associated protein 350 that is encoded in the genome of human.


Unilateral cleft lip

description: A non-midline cleft of the upper lip on one side only.


SHSA5_HUMAN Protein shisa-5 (sprot)

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


partial fetal alcohol syndrome

description: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.


name: CHID1_HUMAN Chitinase domain-containing protein 1 (sprot)

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


name: SRPK3_HUMAN SRSF protein kinase 3 (sprot)

description: An SRSF protein kinase 3 that is encoded in the genome of human.


name: DNPH1_HUMAN 5-hydroxymethyl-dUMP N-hydrolase (sprot)

description: A 5-hydroxymethyl-dUMP N-hydrolase that is encoded in the genome of human.


name: KCD14_HUMAN BTB/POZ domain-containing protein KCTD14 (sprot)

description: A BTB/POZ domain-containing protein KCTD14 that is encoded in the genome of human.


acrodermatitis chronica atrophicans

description: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.


description: Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.


CLVS2_HUMAN Clavesin-2 (sprot)

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


Nongranulomatous uveitis

description: A form of uveitis that is not associated with the formation of granulomas.


name: lysosomal storage disease with skeletal involvement


S10AD_HUMAN Protein S100-A13 (sprot)

A protein S100-A13 that is encoded in the genome of human.


name: GOG6B_HUMAN Golgin subfamily A member 6B (sprot)

description: A protein that is a translation product of the GOLGA6B gene in human.


Periglomerular fibrosis

description: Circumferential fibrosis in the interstitium surrounding Bowman's capsule


generalized eruptive keratoacanthoma

description: Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.


name: AGRA3_HUMAN Adhesion G protein-coupled receptor A3 (sprot)

description: An adhesion G protein-coupled receptor A3 that is encoded in the genome of human.


ferulsinaic acid

A member of the class of coumarins that is 2H-chromen-2-one substituted by a [(1R,2R,3S,5S)-2-(2-carboxyethyl)-2,5-dimethyl-3-(2-methylprop-1-en-1-yl)cyclopentyl]methoxy group at position 7. It is isolated from the roots of Ferula sinaica.


isotretinoin syndrome

description: Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.


name: RMXL2_HUMAN RNA-binding motif protein, X-linked-like-2 (sprot)

description: An RNA-binding motif protein, X-linked-like-2 that is encoded in the genome of human.


name: ZCHC4_HUMAN rRNA N6-adenosine-methyltransferase ZCCHC4 (sprot)

description: An rRNA N6-adenosine-methyltransferase ZCCHC4 that is encoded in the genome of human.


SNX15_HUMAN Sorting nexin-15 (sprot)

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


name: TMM72_HUMAN Transmembrane protein 72 (sprot)

description: A transmembrane protein 72 that is encoded in the genome of human.


Peritoneal effusion

description: An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).


nervous system cancer

description: A primary or metastatic malignant neoplasm involving the nervous system.


name: CEL_HUMAN Bile salt-activated lipase (sprot)

description: A bile salt-activated lipase that is encoded in the genome of human.


name: CE164_HUMAN Centrosomal protein of 164 kDa (sprot)

description: A centrosomal protein of 164 kDa that is encoded in the genome of human.


name: TKFC_HUMAN Triokinase/FMN cyclase (sprot)

description: A triokinase/FMN cyclase that is encoded in the genome of human.


name: GLB1L_HUMAN Beta-galactosidase-1-like protein (sprot)

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


ovarian serous tumor

description: A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.


ISOBUTANOL

An alkyl alcohol that is propan-1-ol substituted by a methyl group at position 2.


name: DEUP1_HUMAN Deuterosome assembly protein 1 (sprot)

description: A deuterosome assembly protein 1 that is encoded in the genome of human.


blue rubber bleb nevus

description: Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.


name: PI4KB_HUMAN Phosphatidylinositol 4-kinase beta (sprot)

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


malignant melanoma of the mucosa

description: A melanoma (disease) that involves the mucosa.


name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


name: LCE1B_HUMAN Late cornified envelope protein 1B (sprot)

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


name: PRUN1_HUMAN Exopolyphosphatase PRUNE1 (sprot)

description: An exopolyphosphatase PRUNE1 that is encoded in the genome of human.


calcipotriol hydrate

A hydrate that is the monohydrate form of calcipotriol. It is used in combination with betamethasone dipropionate, a corticosteroid, for the topical treatment of plaque psoriasis in adult patients.


Megaloblastic bone marrow

description: Abnormal increased number of megaloblasts in the bone marrow.


A purine 2'-deoxyribonucleoside having adenine as the nucleobase.


name: ANR27_HUMAN Ankyrin repeat domain-containing protein 27 (sprot)

description: An ankyrin repeat domain-containing protein 27 that is encoded in the genome of human.


name: ANKL2_HUMAN Ankyrin repeat and LEM domain-containing protein 2 (sprot)

description: An ankyrin repeat and LEM domain-containing protein 2 that is encoded in the genome of human.


diglyme

A polyether that is the dimethyl ether derivative of diethylene glycol.


botryomycosis

description: A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.


spina bifida occulta

description: The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.


name: KBTB6_HUMAN Kelch repeat and BTB domain-containing protein 6 (sprot)

description: A kelch repeat and BTB domain-containing protein 6 that is encoded in the genome of human.


name: THAP4_HUMAN Peroxynitrite isomerase THAP4 (sprot)

description: A peroxynitrite isomerase THAP4 that is encoded in the genome of human.


name: hypothyroidism due to TSH receptor mutations

description: Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.


Niemann-Pick disease type A

description: Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.


nodular fasciitis

description: A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


name: PPR3D_HUMAN Protein phosphatase 1 regulatory subunit 3D (sprot)

description: A protein phosphatase 1 regulatory subunit 3D that is encoded in the genome of human.


name: CHSTD_HUMAN Carbohydrate sulfotransferase 13 (sprot)

description: A carbohydrate sulfotransferase 13 that is encoded in the genome of human.


name: SN12L_HUMAN Schlafen family member 12-like (sprot)

description: A Schlafen family member 12-like that is encoded in the genome of human.


JOS1_HUMAN Josephin-1 (sprot)

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


Troyer syndrome

description: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.


name: VP26B_HUMAN Vacuolar protein sorting-associated protein 26B (sprot)

description: A vacuolar protein sorting-associated protein 26B that is encoded in the genome of human.


short rib-polydactyly syndrome

description: Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).


name: TMTC1_HUMAN Protein O-mannosyl-transferase TMTC1 (sprot)

description: A protein O-mannosyl-transferase TMTC1 that is encoded in the genome of human.


name: B4GN1_HUMAN Beta-1,4 N-acetylgalactosaminyltransferase 1 (sprot)

description: A beta-1,4 N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


name: CONA1_HUMAN Collagen alpha-1(XXIII) chain (sprot)

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


name: NKAI1_HUMAN Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 (sprot)

description: A sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 that is encoded in the genome of human.


phosphatidylglycerol 36:2

A phosphatidylglycerol in which the two acyl groups contain a total of 36 carbon atoms and 2 double bonds.


PURPUROGALLIN

A cyclic ketone that is 5H-benzocycloheptene bearing an oxo group at position 5 and hydroxy groups at positions 2, 3, 4 and 6.


XKR4_HUMAN XK-related protein 4 (sprot)

An XK-related protein 4 that is encoded in the genome of human.


name: cervical large cell neuroendocrine carcinoma

description: A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.


name: SPR2B_HUMAN Small proline-rich protein 2B (sprot)

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


Paraseptal emphysema

description: Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.


name: RNFT1_HUMAN E3 ubiquitin-protein ligase RNFT1 (sprot)

description: An E3 ubiquitin-protein ligase RNFT1 that is encoded in the genome of human.


name: P3H2_HUMAN Prolyl 3-hydroxylase 2 (sprot)

description: A prolyl 3-hydroxylase 2 that is encoded in the genome of human.


name: NELFE_HUMAN Negative elongation factor E (sprot)

description: A negative elongation factor E that is encoded in the genome of human.


neoplasm of temporal lobe

description: A neoplasm (disease) that involves the temporal lobe.


name: PA2GE_HUMAN Group IIE secretory phospholipase A2 (sprot)

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


HMCN2_HUMAN Hemicentin-2 (sprot)

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


cribriform carcinoma

description: A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.


A 1,2-diacyl-sn-glycerol in which both acyl groups are specified as hexanoyl.


name: SOM2_HUMAN Growth hormone variant (sprot)

description: A growth hormone variant that is encoded in the genome of human.


Exencephaly

description: A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.


silent sinus syndrome

description: Silent sinus syndrome is characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.


moderate heart failure

description: Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.


name: sickle cell-beta-thalassemia disease syndrome

description: Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.


collagen 6-related myopathy

description: A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.


fatty acid ester

A carboxylic ester in which the carboxylic acid component can be any fatty acid.


name: CCDC7_HUMAN Coiled-coil domain-containing protein 7 (sprot)

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


deep hemangioma

description: A hemangioma arising from the deep soft tissues.


name: VATG3_HUMAN V-type proton ATPase subunit G 3 (sprot)

description: A V-type proton ATPase subunit G 3 that is encoded in the genome of human.


harlequin syndrome

description: Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.


name: KR511_HUMAN Keratin-associated protein 5-11 (sprot)

description: A keratin-associated protein 5-11 that is encoded in the genome of human.


polyradiculopathy

description: A radiculopathy that is present in more than one nerve.


name: RGPD5_HUMAN RANBP2-like and GRIP domain-containing protein 5/6 (sprot)

description: A RANBP2-like and GRIP domain-containing protein 5/6 that is encoded in the genome of human.


name: HV349_HUMAN Immunoglobulin heavy variable 3-49 (sprot)

description: A protein that is a translation product of the IGHV3-49 gene in human.


name: ADA11_HUMAN Disintegrin and metalloproteinase domain-containing protein 11 (sprot)

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


Vitreous floaters

description: Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.


sodium glycochenodeoxycholate

A bile acid salt that is the sodium salt of glycochenodeoxycholic acid.


A hydroxy fatty acid anion that is the conjugate base of 2-hydroxyisobutyric acid, arising from deprotonation of the carboxy group; major species at pH 7.3.


name: DI3L1_HUMAN DIS3-like exonuclease 1 (sprot)

description: A DIS3-like exonuclease 1 that is encoded in the genome of human.


name: hypoxanthine guanine phosphoribosyltransferase partial deficiency

description: Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.


chromosome 1p36 deletion syndrome

description: A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.


name: salivary gland basal cell adenocarcinoma

description: A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.


A member of the class of xanthenes that is used as a Zn(2+)-selective fluorescent indicator.


glionitrin A

A pyrazinoindole with a disulfide bridge spanning a dioxo-substituted pyrazine ring. It is an antibiotic isolated from the microbial strains Sphingomonas and Aspergillus fumigatus, and exhibits cytotoxic activity against four human cancer cell lines: HCT-116, A549, AGS, and DU145.


name: DNHD1_HUMAN Dynein heavy chain domain-containing protein 1 (sprot)

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


cervical metaplasia

description: Metaplastic changes in the cervical glandular or squamous epithelium.


name: ZDH12_HUMAN Palmitoyltransferase ZDHHC12 (sprot)

description: A palmitoyltransferase ZDHHC12 that is encoded in the genome of human.


name: nodular regenerative hyperplasia of the liver

description: Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.


name: ASB12_HUMAN Ankyrin repeat and SOCS box protein 12 (sprot)

description: An ankyrin repeat and SOCS box protein 12 that is encoded in the genome of human.


ophthalmic acid

A L-glutamine derivative that is L-glutamine substituted by a 1-[(carboxymethyl)amino]-1-oxobutan-2-yl at the terminal amino nitrogen atom.


citramalic acid

A 2-hydroxydicarboxylic acid that is malic acid (hydroxysuccinic acid) in which the hydrogen at position 2 is substituted by a methyl group.


Jeavons syndrome

description: Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.


splenic hemangioma

description: A hemangioma arising from the spleen.


(R)-bambuterol

The (R)-enantiomer of bambuterol.


Bolivian hemorrhagic fever

description: Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.


name: SBP2L_HUMAN Selenocysteine insertion sequence-binding protein 2-like (sprot)

description: A selenocysteine insertion sequence-binding protein 2-like that is encoded in the genome of human.


name: PTHD4_HUMAN Patched domain-containing protein 4 (sprot)

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


pregnancy adenoma

description: A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.


secondary antiphospholipid syndrome

description: An antiphospholipid syndrome that occurs alongside another autoimmune disorder.


Atrophic scars

description: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.


name: NCKP5_HUMAN Nck-associated protein 5 (sprot)

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


name: SUN5_HUMAN SUN domain-containing protein 5 (sprot)

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


A quinolone that is 1,4-dihydroquinoline substituted by an oxo group at position 4.


gestational diabetes insipidus

description: A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.


name: DHX40_HUMAN Probable ATP-dependent RNA helicase DHX40 (sprot)

description: A probable ATP-dependent RNA helicase DHX40 that is encoded in the genome of human.


placenta neoplasm

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


CARIPRAZINE HYDROCHLORIDE

A hydrochloride obtained by combining cariprazine with one molar equivalent of hydrochloric acid. Used for treatment of schizophrenia and bipolar disorder.


name: ADAD1_HUMAN Adenosine deaminase domain-containing protein 1 (sprot)

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


name: FUCO2_HUMAN Plasma alpha-L-fucosidase (sprot)

description: A plasma alpha-L-fucosidase that is encoded in the genome of human.


name: anti-neutrophil antibody associated vasculitis

description: Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


peroxynitrite

The nitrogen oxoanion formed by loss of a proton from peroxynitrous acid.


α-MDG

An alpha-D-glucopyranoside having a methyl substituent at the anomeric position.


FAM9A_HUMAN Protein FAM9A (sprot)

A protein FAM9A that is encoded in the genome of human.


Hypomagnesiuria

description: An decreased concentration of magnesium the urine.


name: SPCS_HUMAN O-phosphoseryl-tRNA(Sec) selenium transferase (sprot)

description: An O-phosphoseryl-tRNA(Sec) selenium transferase that is encoded in the genome of human.


gangliocytoma

description: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.


talampicillin

A penicillanic acid ester that is the 1-phthalidyl ester of ampicillin. It is a prodrug of ampicillin.


EREP3_HUMAN Protein ENTREP3 (sprot)

A protein ENTREP3 that is encoded in the genome of human.


frontal lobe neoplasm

description: A neoplasm involving a frontal lobe.


GP108_HUMAN Protein GPR108 (sprot)

A protein GPR108 that is encoded in the genome of human.


clavulanate

The conjugate base of clavulanic acid.


leiomyoma cutis

description: A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


H2A1_HUMAN Histone H2A type 1 (sprot)

A histone H2A type 1-G/I/K/L/M that is encoded in the genome of human.


sensory ganglionopathy

description: A disease or disorder that involves the sensory ganglion.


name: EMAL3_HUMAN Echinoderm microtubule-associated protein-like 3 (sprot)

description: An echinoderm microtubule-associated protein-like 3 that is encoded in the genome of human.


name: COAC_HUMAN Phosphopantothenoylcysteine decarboxylase (sprot)

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


Zimmermann-Laband syndrome

description: Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.


Vomiting

description: Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.


ectoine

A carboxamidine heterocycle obtained by formal condensation of (2S)-2,4-diaminobutanoic acid with acetic acid.


synaptopathy

description: A disease caused by dysfunction of synapses.


name: MMS19_HUMAN MMS19 nucleotide excision repair protein homolog (sprot)

description: An MMS19 nucleotide excision repair protein that is encoded in the genome of human.


name: TAFA4_HUMAN Chemokine-like protein TAFA-4 (sprot)

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


name: HMX3_HUMAN Homeobox protein HMX3 (sprot)

description: A homeobox protein HMX3 that is encoded in the genome of human.


name: KCC1B_HUMAN Calcium/calmodulin-dependent protein kinase type 1B (sprot)

description: A calcium/calmodulin-dependent protein kinase type 1B that is encoded in the genome of human.


chronic dacryocystitis

description: Chronic form of dacryocystitis.


name: TVA10_HUMAN T cell receptor alpha variable 10 (sprot)

description: A protein that is a translation product of the TRAV10 gene in human.


name: WASL_HUMAN Actin nucleation-promoting factor WASL (sprot)

description: An actin nucleation-promoting factor WASL that is encoded in the genome of human.


name: TT21A_HUMAN Tetratricopeptide repeat protein 21A (sprot)

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


name: idiopathic spontaneous coronary artery dissection

description: The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.


name: PROB1_HUMAN Proline-rich basic protein 1 (sprot)

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


name: GALK2_HUMAN N-acetylgalactosamine kinase (sprot)

description: An N-acetylgalactosamine kinase that is encoded in the genome of human.


Decreased numbers of nephrons

description: A reduction in the count of nephrons per kidney.


potassium-aggravated myotonia

description: Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.


Testicular fibrosis

description: Formation of excess connective tissue in the testicle.


tris acetate

An acetate salt resulting from the reaction of equimolar amounts of tris and acetic acid.


name: Cellular non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.


name: ATP23_HUMAN Mitochondrial inner membrane protease ATP23 homolog (sprot)

description: A mitochondrial inner membrane protease ATP23 that is encoded in the genome of human.


name: acute posterior multifocal placoid pigment epitheliopathy

description: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.


imide

A dicarboximide that is 3,4,5,6-tetrahydrophthalimide in which the hydrogen attached to the nitrogen is replaced by a p-bromophenyl group.


name: MYH16_HUMAN Putative uncharacterized protein MYH16 (sprot)

description: A protein that is a translation product of the MYH16 gene in human.


T-cell lymphoma/leukemia

description: A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.


radiation myelitis

description: A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.


autosomal recessive spastic ataxia

description: Autosomal recessive form of spastic ataxia.


dihydroergotamine tartrate

The L-(+)-tartaric acid salt of dihydroergotamine, a semisynthetic ergot alkaloid with weaker oxytocic and vasoconstrictor properties than ergotamine. Both the tartrate and the mesylate salts are used for the treatment of migraine and orthostatic hypotension.


name: GMIP_HUMAN GEM-interacting protein (sprot)

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


Enteric neuronal degeneration

description: Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


Pancreatic hypoplasia

description: Hypoplasia of the pancreas.


inherited blood coagulation disorder

description: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.


A tocopherol in which the chroman-6-ol core is substituted by a methyl group at position 8. It is found particularly in maize (corn) oil and soya bean (soybean) oils.


name: AEGP_HUMAN Apical endosomal glycoprotein (sprot)

description: An apical endosomal glycoprotein that is encoded in the genome of human.


TREA_HUMAN Trehalase (sprot)

A trehalase that is encoded in the genome of human.


name: PWP2A_HUMAN PWWP domain-containing protein 2A (sprot)

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


Small for gestational age

description: Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


name: IGHD_HUMAN Immunoglobulin heavy constant delta (sprot)

description: An immunoglobulin heavy constant delta that is encoded in the genome of human.


distal myopathy

description: Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.


name: S35B3_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 2 (sprot)

description: An adenosine 3'-phospho 5'-phosphosulfate transporter 2 that is encoded in the genome of human.


posterior amorphous corneal dystrophy

description: Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.


gadoleic acid

An icosenoic acid having a cis- double bond at position 9.


DOXAPRAM HYDROCHLORIDE

The hydrochloride salt of doxapram. A central and respiratory stimulant with a brief duration of action, both doxapram hydrochloride and its hydrate are used as a temporary treatment of acute respiratory failure, particularly when superimposed on chronic obstructive pulmonary disease, and of postoperative respiratory depression. It has also been used for treatment of postoperative shivering.


congenital lactase deficiency

description: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.


epiglottis neoplasm

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


name: ADA21_HUMAN Disintegrin and metalloproteinase domain-containing protein 21 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 21 that is encoded in the genome of human.


name: developmental and epileptic encephalopathy, 39

description: A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.


rheumatic congestive heart failure

description: Heart failure secondary to rheumatic fever.


name: STAC_HUMAN SH3 and cysteine-rich domain-containing protein (sprot)

description: An SH3 and cysteine-rich domain-containing protein that is encoded in the genome of human.


Agitation

description: A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.


itaconyl-CoA

The S-itaconyl derivative of coenzyme A.


biphenylol

A member of the class of hydroxybiphenyls that is biphenyl substituted by a hydroxy group at position 2. It is generally used as a post-harvest fungicide for citrus fruits.


ESMETHADONE

A 6-(dimethylamino)-4,4-diphenylheptan-3-one that has (S)-configuration. It is the less active enantiomer of methadone and has very little activity on opioid receptors and mainly responsible for the inhibition of hERG K+ channels and thus for cardiac toxicity. The drug is currently under clinical development for the treatment of major depressive disorder.


name: RBGPR_HUMAN Rab3 GTPase-activating protein non-catalytic subunit (sprot)

description: A Rab3 GTPase-activating protein non-catalytic subunit that is encoded in the genome of human.


name: PP14D_HUMAN Protein phosphatase 1 regulatory subunit 14D (sprot)

description: A protein phosphatase 1 regulatory subunit 14D that is encoded in the genome of human.


name: CCD62_HUMAN Coiled-coil domain-containing protein 62 (sprot)

description: A coiled-coil domain-containing protein 62 that is encoded in the genome of human.


name: RT09_HUMAN Small ribosomal subunit protein uS9m (sprot)

description: A small ribosomal subunit protein uS9m that is encoded in the genome of human.


name: CIA2A_HUMAN Cytosolic iron-sulfur assembly component 2A (sprot)

description: A cytosolic iron-sulfur assembly component 2A that is encoded in the genome of human.


congenital hydronephrosis

description: Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.


transient neonatal myasthenia gravis

description: Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.


dyscalculia

description: A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.


3-methylglutaconic aciduria type 5

description: A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.


name: RNB3L_HUMAN Ran-binding protein 3-like (sprot)

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


name: pancreatic insulin-producing neuroendocrine tumor

description: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.


tendon sheath fibroma

description: A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.


name: SREK1_HUMAN Splicing regulatory glutamine/lysine-rich protein 1 (sprot)

description: A splicing factor, arginine/serine-rich 12 that is encoded in the genome of human.


lacrimal duct obstruction

description: Blockage of the tear duct.


CBPZ_HUMAN Carboxypeptidase Z (sprot)

A carboxypeptidase Z that is encoded in the genome of human.


name: PLPL5_HUMAN Patatin-like phospholipase domain-containing protein 5 (sprot)

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


name: RL7A_HUMAN Large ribosomal subunit protein eL8 (sprot)

description: A large ribosomal subunit protein eL8 that is encoded in the genome of human.


DIPIVEFRIN HYDROCHLORIDE

The hydrochloride salt of dipivefrin. It is used topically as eye drops to reduce intra-ocular pressure in the treatment of open-angle glaucoma or ocular hypertension.


D-glucitol 6-phosphate

The 6-O-phospho derivative of D-glucitol.


Tubular luminal dilatation

description: Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.


cutaneous fibrous histiocytoma

description: A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.


name: AT10B_HUMAN Phospholipid-transporting ATPase VB (sprot)

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


eccrine sweat gland neoplasm

description: A neoplasm involving a eccrine sweat gland.


thromboxane

A class of oxygenated oxane derivatives, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels.


bacillary angiomatosis

description: A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.


name: OR2C1_HUMAN Olfactory receptor 2C1 (sprot)

description: An olfactory receptor 2C1 that is encoded in the genome of human.


name: FBSL_HUMAN Fibrosin-1-like protein (sprot)

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


Sagliker syndrome

description: A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face


name: KV229_HUMAN Immunoglobulin kappa variable 2-29 (sprot)

description: A protein that is a translation product of the IGKV2-29 gene in human.


mononeuritis multiplex

description: A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.


dimethylmaleic acid

A dicarboxylic acid that is maleic acid in which each of the hydrogens that is attached to a carbon atom is substituted by a methyl group.


guanadrel

A spiroketal resulting from the formal condensation of the keto group of cyclohexanone with the hydroxy groups of 1-(2,3-dihydroxypropyl)guanidine. A postganglionic adrenergic blocking agent formerly used (generally as the sulfate salt) for the management of hypertension, it has been largely superseded by other drugs less likely to cause orthostatic hypotension (dizzy spells on standing up or stretching).


DIMEBUTIC ACID

A branched-chain fatty acid and metabolite of the lactone prodrug simvastatin, whose sodium salt is potentially useful for the treatment of thalassaemias and haemoglobinopathies.


3,4-DIHYDROXYPHENYLACETIC ACID

A dihydroxyphenylacetic acid having the two hydroxy substituents located at the 3- and 4-positions. It is a metabolite of dopamine.


disorder of optic chiasm

description: A disease that involves the optic chiasma.


description: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.


name: RL7L_HUMAN Ribosomal protein uL30-like (sprot)

description: A ribosomal protein uL30-like that is encoded in the genome of human.


diffuse neonatal hemangiomatosis

description: Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.


name: PAGE2_HUMAN P antigen family member 2 (sprot)

description: A G antigen family E member 2 that is encoded in the genome of human.


name: ASMT_HUMAN Acetylserotonin O-methyltransferase (sprot)

description: An acetylserotonin O-methyltransferase that is encoded in the genome of human.


Xanthoma of bone

description: Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells.


name: SUOX_HUMAN Sulfite oxidase, mitochondrial (sprot)

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


2-bromohexadecanoic acid

A bromo fatty acid that is hexadecanoic (palmitic) acid carrying a single bromo substituent at position 2.


linoleate

An octadecadienoate with cis- double bonds at the 9- and 12- positions; the conjugate base of linoleic acid.


infective arthritis

description: The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.


Charcot-Marie-Tooth disease type 2

description: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.


name: SC65_HUMAN Endoplasmic reticulum protein SC65 (sprot)

description: An endoplasmic reticulum protein SC65 that is encoded in the genome of human.


indirubin

A member of the class of indolones that is 1,3-dihydro-2H-indol-2-one substituted by a 3-oxo-1,3-dihydro-2H-indol-2-ylidene group at position 3. It is the active component of Dang Gui Long Hui Wan, which has been used in traditional Chinese medicine to treat inflammatory diseases and chronic myeloid leukemia.


name: ZN668_HUMAN Zinc finger protein 668 (sprot)

description: A zinc finger protein 668 that is encoded in the genome of human.


name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

description: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.


melamine cyanurate

A crystalline complex formed from a 1:1 mixture of melamine and cyanuric (isocyanuric) acid,  held together by an extensive two-dimensional network of hydrogen bonds between the two compounds.


benzene-1,4-disulfonic acid

A member of the class of benzenesulfonic acids consisting of benzene carrying two sulfo groups at position 1 and 4 respectively.


name: TM175_HUMAN Endosomal/lysosomal proton channel TMEM175 (sprot)

description: An endosomal/lysosomal proton channel TMEM175 that is encoded in the genome of human.


narcolepsy-cataplexy syndrome

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).


name: MARCO_HUMAN Macrophage receptor MARCO (sprot)

description: A macrophage receptor MARCO that is encoded in the genome of human.


name: QCR9_HUMAN Cytochrome b-c1 complex subunit 9 (sprot)

description: A cytochrome b-c1 complex subunit 9 that is encoded in the genome of human.


diphyllobothriasis

description: Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells).


name: CCD12_HUMAN Coiled-coil domain-containing protein 12 (sprot)

description: A coiled-coil domain-containing protein 12 that is encoded in the genome of human.


name: SLC35A2-congenital disorder of glycosylation

description: SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).


DIPYRIDYL

A bipyridine in which the two pyridine moieties are linked by a bond between positions C-2 and C-2'.


solasodine

An oxaspiro compound and steroid alkaloid sapogenin with formula C27H43NO2 found in the Solanum (nightshade) family. It is used as a precursor in the synthesis of complex steroidal compounds such as contraceptive pills.


3,5-dimethylorsellinic acid

A member of the class of dihydroxybenzoic acids that is o-orsellinic acid carrying two additional methyl substituents at positions 3 and 5.


A phlorotanin that is 1,1'-bioxanthrene substituted by 3,5-dihydroxyphenoxy groups at position 6 and 6' and hydroxy groups at positions  2, 2', 4, 4', 7, 7', 9 and 9' respectively. It is isolated  from an edible marine brown alga Ecklonia cava and exhibits antioxidant activity.


ideomotor apraxia

description: A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)


BOP_HUMAN Protein Bop (sprot)

A protein that is a translation product of the RTL10 gene in human.


eberconazole

A racemate comprising equimolar amounts of (R)- and (S)-eberconazole. Used (as its nitrate salt) for topical treatment of superficial mycoses.


carbonyl sulfide

A one-carbon compound in which the carbon atom is attached to an oxygen and a sulfur atom via double bonds.


progressive bulbar palsy of childhood

description: A progressive bulbar palsy of childhood that occurs during childhood.


name: idiopathic macular telangiectasia type 1

description: A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.


DIETHYL PYROCARBONATE

The diethyl ester of dicarbonic acid.


name: DHPR_HUMAN Dihydropteridine reductase (sprot)

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


Increased CSF protein concentration

description: Increased concentration of protein in the cerebrospinal fluid.


hemidystonia-hemiatrophy syndrome

description: Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.


somatoform disorder

description: A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.


mucopolysaccharidosis type 3C

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.


name: BCL7B_HUMAN B-cell CLL/lymphoma 7 protein family member B (sprot)

description: A B-cell CLL/lymphoma 7 protein family member B that is encoded in the genome of human.


name: RPKL1_HUMAN Ribosomal protein S6 kinase-like 1 (sprot)

description: A ribosomal protein S6 kinase-like 1 that is encoded in the genome of human.


name: congenital high-molecular-weight kininogen deficiency

description: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


name: TRI64_HUMAN Tripartite motif-containing protein 64 (sprot)

description: A tripartite motif-containing protein 64 that is encoded in the genome of human.


name: LRP5L_HUMAN Low-density lipoprotein receptor-related protein 5-like protein (sprot)

description: A low-density lipoprotein receptor-related protein 5-like protein that is encoded in the genome of human.


name: T126A_HUMAN Transmembrane protein 126A (sprot)

description: A transmembrane protein 126A that is encoded in the genome of human.


name: KCNS3_HUMAN Potassium voltage-gated channel subfamily S member 3 (sprot)

description: A voltage-gated potassium channel KCNS3 that is encoded in the genome of human.


Coffin-Siris syndrome

description: Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.


name: ZN496_HUMAN Zinc finger protein 496 (sprot)

description: A zinc finger protein 496 that is encoded in the genome of human.


DECURSINOL

An organic heterotricyclic compound that is 7,8-dihydro-2H,6H-pyrano[3,2-g]chromen-2-one substituted by a beta-hydroxy group at position 7 and two methyl groups at position 8. It is isolated from the roots of Angelica gigas and has been found to possess significant inhibitory activity against acetylcholinesterase enzyme (EC 3.1.1.7).


name: T176A_HUMAN Transmembrane protein 176A (sprot)

description: A transmembrane protein 176A that is encoded in the genome of human.


A thiosugar that is beta-D-glucopyranose in which the hydroxy group at position 1 is replaced by a sulfanyl group


name: OTOGL_HUMAN Otogelin-like protein (sprot)

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


mixed neuronal-glial tumor

description: A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)


Parathyroid hypoplasia

description: Developmental hypoplasia of the parathyroid gland.


name: WDR33_HUMAN pre-mRNA 3' end processing protein WDR33 (sprot)

description: A pre-mRNA 3' end processing protein WDR33 that is encoded in the genome of human.


Perioral erythema

description: Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.


name: GP153_HUMAN Probable G-protein coupled receptor 153 (sprot)

description: A probable G-protein coupled receptor 153 that is encoded in the genome of human.


alcohol amnestic disorder

description: A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)


avian leukosis

description: A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.


ATORVASTATIN CALCIUM

An organic calcium salt composed of calcium cations and atorvastatin anions in a 1:2 ratio.


name: KRBX1_HUMAN KRAB domain-containing protein 1 (sprot)

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


tuberculostearic acid

A methyl-branched fatty acid, the structure of which is that of stearic acid carrying a methyl group at C-10.


SNX22_HUMAN Sorting nexin-22 (sprot)

A sorting nexin-22 that is encoded in the genome of human.


gastric neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.


name: ACTBL_HUMAN Beta-actin-like protein 2 (sprot)

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


tributyl phosphate

A trialkyl phosphate that is the tributyl ester of phosphoric acid.


RIDDLE syndrome

description: An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.


name: TRM11_HUMAN tRNA (guanine(10)-N2)-methyltransferase homolog (sprot)

description: A tRNA guanosine-2'-O-methyltransferase TRM11 that is encoded in the genome of human.


vulval Paget disease

description: An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.


Basal ganglia gliosis

description: Focal proliferation of glial cells in the basal ganglia.


NREM parasomnia

description: A parasomnia that occurs during non-rapid eye movement (NREM) sleep.


KLK9_HUMAN Kallikrein-9 (sprot)

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


name: MPI-congenital disorder of glycosylation

description: MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).


DEK_HUMAN Protein DEK (sprot)

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


magnesium citrate

A magnesium salt composed of magnesium and dibasic citrate ions in a 1:1 ratio.


L-isoglutamine

An isoglutamine that has L-configuration.


name: LPH_HUMAN Lactase/phlorizin hydrolase (sprot)

description: A lactase/phlorizin hydrolase that is encoded in the genome of human.


name: S35E3_HUMAN Solute carrier family 35 member E3 (sprot)

description: A solute carrier family 35 member E3 that is encoded in the genome of human.


name: LV211_HUMAN Immunoglobulin lambda variable 2-11 (sprot)

description: A protein that is a translation product of the IGLV2-11 gene in human.


tubastatin A

A pyridoindole that is 1,2,3,4-tetrahydro-5H-pyrido[4,3-b]indole which is substituted on the tetrahydropyridine nitrogen by a methyl group and on the indole nitrogen by a p-[N-(hydroxy)aminocarbonyl]benzyl group. It is a histone deacetylase 6 (HDAC6) inhibitor that is selective against all the other isozymes (1000-fold) except HDAC8 (57-fold).


name: JAGN1_HUMAN Protein jagunal homolog 1 (sprot)

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


F118B_HUMAN Protein FAM118B (sprot)

A protein FAM118B that is encoded in the genome of human.


hepatic angiomyolipoma

description: An angiomyolipoma arising from the liver.


name: combined immunodeficiency due to CD3gamma deficiency

description: Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.


familial hyperaldosteronism type III

description: Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.


cholesterol metabolism disease

description: A disease that has its basis in the disruption of cholesterol metabolic process.


name: FASTK_HUMAN Fas-activated serine/threonine kinase (sprot)

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


name: COMD6_HUMAN COMM domain-containing protein 6 (sprot)

description: A COMM domain-containing protein 6 that is encoded in the genome of human.


spotted fever

description: A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.


name: OBI1_HUMAN ORC ubiquitin ligase 1 (sprot)

description: An ORC ubiquitin ligase 1 that is encoded in the genome of human.


SALICYLURIC ACID

An N-acylglycine in which the acyl group is specified as 2-hydroxybenzoyl.


ARIP4_HUMAN Helicase ARIP4 (sprot)

A helicase ARIP4 that is encoded in the genome of human.


name: encephalopathy due to hydroxykynureninuria

description: Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.


sulfamate

An organosulfonate oxoanion obtained by deprotonation of the N-sulfo group of any sulfamic acid; major species at pH 7.3.


name: TEX19_HUMAN Testis-expressed protein 19 (sprot)

description: A testis-expressed protein 19 that is encoded in the genome of human.


name: familial juvenile hyperuricemic nephropathy type 2

description: Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).


DIAMINOOCTANE

An alkane-alpha,omega-diamine in which the two amino groups are separated by eight methylene groups.


Refractory drug response

description: Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.


name: MTNA_HUMAN Methylthioribose-1-phosphate isomerase (sprot)

description: A methylthioribose-1-phosphate isomerase that is encoded in the genome of human.


EPOXYAZADIRADIONE

A limonoid that is  azadiradione with an epoxy group across positions 14 and 15. Isolated from Azadirachta indica it exhibits insecticidal activitry against mosquitoes.


name: PKHG1_HUMAN Pleckstrin homology domain-containing family G member 1 (sprot)

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


name: GL1D1_HUMAN Glycosyltransferase 1 domain-containing protein 1 (sprot)

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


NUP54_HUMAN Nucleoporin p54 (sprot)

A nucleoporin p54 that is encoded in the genome of human.


CHRYSENE

An ortho-fused polycyclic arene found commonly in the coal tar.


teceleukin

An indolyl carbohydrate that is the beta-D-galactoside of 3-hydroxy-1H-indole in which the indole moiety is substituted at positions 4 and 5 by chlorine and bromine, respectively. It is used to test for the presence of an enzyme, beta-galactosidase, which cleaved the glycosidic bond to give 5-bromo-4-chloro-3-hydroxy-1H-indole, which immediately dimerises to give an intensely blue product.


1'-acetoxychavicol acetate

An  acetate ester that is chavicol acetate substituted by an acetoxy group at position 1'.


hippeastrine

An indole alkaloid isolated from the Amaryllidaceae family and has been shown to exhibit cytotoxic activity.


5'-inosine monophosphate

A purine ribonucleoside 5'-monophosphate having hypoxanthine as the nucleobase.


sacrum chordoma

description: A chordoma (disease) that involves the fused sacrum.


CDP-diacylglycerol

A CDP-glycerol having unspecified acyl groups (most commonly fatty acyl groups) at the 1- and 2-positions.


3-hydroxypropionic acid

A 3-hydroxy monocarboxylic acid that is propionic acid in which one of the hydrogens attached to the terminal carbon is replaced by a hydroxy group.


name: PRB4_HUMAN Basic salivary proline-rich protein 4 (sprot)

description: A basic salivary proline-rich protein 4 that is encoded in the genome of human.


name: NU205_HUMAN Nuclear pore complex protein Nup205 (sprot)

description: A nuclear pore complex protein Nup205 that is encoded in the genome of human.


name: DEPD4_HUMAN DEP domain-containing protein 4 (sprot)

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


Episodic pain

description: Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.


name: feline large granular lymphocyte lymphoma

description: A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat.


3-methylflavone-8-carboxylic acid

A member of the class of flavones that is flavone substituted at position 3 by a methyl group and at position 8 by a carboxylic acid group.


name: PITH1_HUMAN PITH domain-containing protein 1 (sprot)

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


name: KRA58_HUMAN Keratin-associated protein 5-8 (sprot)

description: A keratin-associated protein 5-8 that is encoded in the genome of human.


description: 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.


bacterial gastritis

description: Gastritis resulting from bacteria.


name: FRMD3_HUMAN FERM domain-containing protein 3 (sprot)

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


name: EIF3K_HUMAN Eukaryotic translation initiation factor 3 subunit K (sprot)

description: A eukaryotic translation initiation factor 3 subunit K that is encoded in the genome of human.


IFNA5_HUMAN Interferon alpha-5 (sprot)

An interferon alpha-5 that is encoded in the genome of human.


submandibular gland neoplasm

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


Bardet-Biedl syndrome 1

description: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.