congenital bile acid synthesis defect 3

description: Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.


PALMD_HUMAN Palmdelphin (sprot)

A palmdelphin that is encoded in the genome of human.


name: PK1L3_HUMAN Polycystin-1-like protein 3 (sprot)

description: A polycystin-1-like protein 3 that is encoded in the genome of human.


blind loop syndrome

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

description: A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.


name: ZNF84_HUMAN Zinc finger protein 84 (sprot)

description: A zinc finger protein 84 that is encoded in the genome of human.


A labdane diterpenoid that is the 1,9-dideoxy derivative of forskolin.


name: adult-onset autosomal dominant demyelinating leukodystrophy

description: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.


hyper-IgM syndrome type 1

description: The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.


name: HNRPF_HUMAN Heterogeneous nuclear ribonucleoprotein F (sprot)

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


FBN3_HUMAN Fibrillin-3 (sprot)

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


name: SRG2C_HUMAN SLIT-ROBO Rho GTPase-activating protein 2C (sprot)

description: A SLIT-ROBO Rho GTPase-activating protein 2C that is encoded in the genome of human.


Fanconi anemia complementation group I

description: Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.


name: RPIA_HUMAN Ribose-5-phosphate isomerase (sprot)

description: A ribose-5-phosphate isomerase that is encoded in the genome of human.


atypical Werner syndrome

description: A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.


ORCINOL

A 5-alkylresorcinol in which the alkyl group is specified as methyl.


name: WAC2C_HUMAN WASH complex subunit 2C (sprot)

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


Quadriceps muscle weakness

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

description: Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).


sinoatrial block

description: A heart block that is initiated in the sinoatrial node.


Spastic dysarthria

description: A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.


acquired factor XIII deficiency

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


name: SYCE2_HUMAN Synaptonemal complex central element protein 2 (sprot)

description: A synaptonemal complex central element protein 2 that is encoded in the genome of human.


The parent of the class of 2-acetamidofluorenes, being an ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2. It is a carcinogenic and mutagenic derivative of fluorene.


tuberculous peritonitis

description: A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.


name: autosomal recessive limb-girdle muscular dystrophy type 2D

description: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.


name: GKAP1_HUMAN G kinase-anchoring protein 1 (sprot)

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


ammonium acetate

An ammonium salt obtained by reaction of ammonia with acetic acid. A deliquescent white crystalline solid, it has a relatively low melting point (114degreeC) for a salt. Used as a food acidity regulator, although no longer approved for this purpose in the EU.


name: ZNF48_HUMAN Zinc finger protein 48 (sprot)

description: A zinc finger protein 48 that is encoded in the genome of human.


METHANESULFONIC ACID ETHYL ESTER

A methanesulfonate ester resulting from the formal condensation of methanesulfonic acid with ethanol.


name: SIRPG_HUMAN Signal-regulatory protein gamma (sprot)

description: A signal-regulatory protein gamma that is encoded in the genome of human.


name: KRA47_HUMAN Keratin-associated protein 4-7 (sprot)

description: A keratin-associated protein 4-7 that is encoded in the genome of human.


ABHEA_HUMAN Protein ABHD14A (sprot)

A protein ABHD14A that is encoded in the genome of human.


cholesteryl linoleate

The (9Z,12Z)-stereoisomer of cholesteryl octadeca-9,12-dienoate.


name: GANC_HUMAN Neutral alpha-glucosidase C (sprot)

description: A neutral alpha-glucosidase C that is encoded in the genome of human.


osteoarthritis, hand

description: Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).


name: E41L2_HUMAN Band 4.1-like protein 2 (sprot)

description: A band 4.1-like protein 2 that is encoded in the genome of human.


alternating hemiplegia of childhood

description: A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.


MALVIDIN

An anthocyanidin cation that is delphinidin carrying methyl substituents at positions 3' and 5'.


spinal cord astrocytoma

description: A low or high grade astrocytoma that arises in the spinal cord.


name: PRR15_HUMAN Proline-rich protein 15 (sprot)

description: A proline-rich protein 15 that is encoded in the genome of human.


name: T2R16_HUMAN Taste receptor type 2 member 16 (sprot)

description: A taste receptor type 2 member 16 that is encoded in the genome of human.


A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of 6-phospho-D-gluconic acid.


name: PIGB_HUMAN GPI mannosyltransferase 3 (sprot)

description: A GPI mannosyltransferase 3 that is encoded in the genome of human.


conotruncal heart malformations

description: Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).


An anabolic steroid that differs from testosterone by having a 1,2-double bond instead of a 4,5-double bond in its A ring. A potent androgen with anabolic properties, it was legally sold as a prohormone in the U.S.A. until 2005, when it was reclassified as a Schedule III drug.


CLMN_HUMAN Calmin (sprot)

A calmin that is encoded in the genome of human.


name: RHBD2_HUMAN Rhomboid domain-containing protein 2 (sprot)

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


DCTN6_HUMAN Dynactin subunit 6 (sprot)

A dynactin subunit 6 that is encoded in the genome of human.


description: Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.


name: TPC12_HUMAN Trafficking protein particle complex subunit 12 (sprot)

description: A trafficking protein particle complex subunit 12 that is encoded in the genome of human.


name: COVID-19–associated multisystem inflammatory syndrome in adults

description: A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).


(-)-ROLIPRAM

The (R)-enantiomer of rolipram.


name: SGTB_HUMAN Small glutamine-rich tetratricopeptide repeat-containing protein beta (sprot)

description: A small glutamine-rich tetratricopeptide repeat-containing protein beta that is encoded in the genome of human.


action myoclonus-renal failure syndrome

description: Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.


name: sterile multifocal osteomyelitis with periostitis and pustulosis

description: An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.


name: MA7D2_HUMAN MAP7 domain-containing protein 2 (sprot)

description: A MAP7 domain-containing protein 2 that is encoded in the genome of human.


S-METHYLGLUTATHIONE

An S-substituted glutathione that is glutathione in which the mercapto hydrogen has been replaced by a methyl group.


name: ZN256_HUMAN Zinc finger protein 256 (sprot)

description: A zinc finger protein 256 that is encoded in the genome of human.


Paraspinal neurofibroma

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


name: SYEM_HUMAN Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial (sprot)

description: A nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial that is encoded in the genome of human.


hyperprolinemia

description: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


name: KMO_HUMAN Kynurenine 3-monooxygenase (sprot)

description: A kynurenine 3-monooxygenase that is encoded in the genome of human.


name: AT5G3_HUMAN ATP synthase F(0) complex subunit C3, mitochondrial (sprot)

description: An ATP synthase F(0) complex subunit C3, mitochondrial that is encoded in the genome of human.


name: NR2C1_HUMAN Nuclear receptor subfamily 2 group C member 1 (sprot)

description: A nuclear receptor subfamily 2 group C member 1 that is encoded in the genome of human.


description: A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.


nephrocalcinosis

description: Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.


Renal cortical cysts

description: Cysts of the cortex of the kidney.


erythrasma

description: A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.


name: GBRP_HUMAN Gamma-aminobutyric acid receptor subunit pi (sprot)

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


PYRG2_HUMAN CTP synthase 2 (sprot)

A CTP synthase 2 that is encoded in the genome of human.


taurolithocholic acid sulfate

The steroid sulfate of taurolithocholic acid.


name: FEM1C_HUMAN Protein fem-1 homolog C (sprot)

description: A protein fem-1 homolog C that is encoded in the genome of human.


name: myeloid neoplasm associated with FGFR1 rearrangement

description: Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.


name: SLAF9_HUMAN SLAM family member 9 (sprot)

description: A SLAM family member 9 that is encoded in the genome of human.


trimethylammonium

An ammonium ion that is the conjugate acid of trimethylamine, obtained via protonation of the nitrogen; major species at pH 7.3.


malignant soft tissue neoplasm

description: A malignant neoplasm arising exclusively from the soft tissues.


name: PTHD1_HUMAN Patched domain-containing protein 1 (sprot)

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


name: NUDT8_HUMAN Mitochondrial coenzyme A diphosphatase NUDT8 (sprot)

description: A mitochondrial coenzyme A diphosphatase NUDT8 that is encoded in the genome of human.


giant axonal neuropathy

description: A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.


name: RPC10_HUMAN DNA-directed RNA polymerase III subunit RPC10 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC10 that is encoded in the genome of human.


description: A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.


name: NOC2L_HUMAN Nucleolar complex protein 2 homolog (sprot)

description: A nucleolar complex protein 2 that is encoded in the genome of human.


Facet joint arthrosis

description: Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.


vitamin D-dependent rickets, type 1

description: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


name: KCTD8_HUMAN BTB/POZ domain-containing protein KCTD8 (sprot)

description: A BTB/POZ domain-containing protein KCTD8 that is encoded in the genome of human.


name: DDIAS_HUMAN DNA damage-induced apoptosis suppressor protein (sprot)

description: A DNA damage-induced apoptosis suppressor protein that is encoded in the genome of human.


name: O52A1_HUMAN Olfactory receptor 52A1 (sprot)

description: An olfactory receptor 52A1 that is encoded in the genome of human.


name: IDLC_HUMAN Axonemal dynein light intermediate polypeptide 1 (sprot)

description: An axonemal dynein light intermediate polypeptide 1 that is encoded in the genome of human.


name: EFTS_HUMAN Elongation factor Ts, mitochondrial (sprot)

description: An elongation factor Ts, mitochondrial that is encoded in the genome of human.


functioning endocrine neoplasm

description: A hormone producing endocrine neoplasm, associated with a hormonal syndrome.


blood platelet disease

description: Disorders caused by abnormalities in platelet count or function.


name: pyruvate dehydrogenase E3-binding protein deficiency

description: Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.


SELH_HUMAN Selenoprotein H (sprot)

A selenoprotein H that is encoded in the genome of human.


aortic disorder

description: Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)


Caroli disease

description: Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.


Lane Hamilton syndrome

description: A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.


name: RBM22_HUMAN Pre-mRNA-splicing factor RBM22 (sprot)

description: A pre-mRNA-splicing factor RBM22 that is encoded in the genome of human.


splenic manifestation of leukemia

description: A leukemia (disease) that involves the spleen.


name: PIPNA_HUMAN Phosphatidylinositol transfer protein alpha isoform (sprot)

description: A phosphatidylinositol transfer protein alpha isoform that is encoded in the genome of human.


HMN2_HUMAN Humanin-like 2 (sprot)

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


name: autosomal recessive ataxia due to ubiquinone deficiency

description: This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.


mucopolysaccharidosis type 4

description: A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.


name: SSH2_HUMAN Protein phosphatase Slingshot homolog 2 (sprot)

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


Nasal congestion

description: Reduced ability to pass air through the nasal cavity often leading to mouth breathing.


haemophilus meningitis

description: Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.


name: KRA59_HUMAN Keratin-associated protein 5-9 (sprot)

description: A keratin-associated protein 5-9 that is encoded in the genome of human.


uterine cervix carcinoma in situ

description: Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003


name: SAFB2_HUMAN Scaffold attachment factor B2 (sprot)

description: A scaffold attachment factor B2 that is encoded in the genome of human.


chronic canaliculitis

description: Chronic form of actinomycosis.


achromatopsia

description: Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.


name: FBW10_HUMAN F-box/WD repeat-containing protein 10 (sprot)

description: An F-box/WD repeat-containing protein 10 that is encoded in the genome of human.


name: SKI3_HUMAN Superkiller complex protein 3 (sprot)

description: A superkiller complex protein 3 that is encoded in the genome of human.


name: TJAP1_HUMAN Tight junction-associated protein 1 (sprot)

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


YIPF5_HUMAN Protein YIPF5 (sprot)

A protein YIPF5 that is encoded in the genome of human.


RIC8B_HUMAN Synembryn-B (sprot)

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


muscle cancer

description: A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.


name: COA7_HUMAN Cytochrome c oxidase assembly factor 7 (sprot)

description: A cytochrome c oxidase assembly factor 7 that is encoded in the genome of human.


anotia

description: A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


name: S35E1_HUMAN Solute carrier family 35 member E1 (sprot)

description: A solute carrier family 35 member E1 that is encoded in the genome of human.


name: hypereosinophilia of undetermined significance

description: Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


name: OLM2B_HUMAN Olfactomedin-like protein 2B (sprot)

description: An olfactomedin-like protein 2B that is encoded in the genome of human.


Waardenburg syndrome

description: A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.


staphylococcal necrotizing pneumonia

description: Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.


NUMBL_HUMAN Numb-like protein (sprot)

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


name: STAR9_HUMAN StAR-related lipid transfer protein 9 (sprot)

description: A StAR-related lipid transfer protein 9 that is encoded in the genome of human.


name: DDX50_HUMAN ATP-dependent RNA helicase DDX50 (sprot)

description: An ATP-dependent RNA helicase DDX50 that is encoded in the genome of human.


name: ACOT9_HUMAN Acyl-coenzyme A thioesterase 9, mitochondrial (sprot)

description: An acyl-coenzyme A thioesterase 9, mitochondrial that is encoded in the genome of human.


name: COX11_HUMAN Cytochrome c oxidase assembly protein COX11, mitochondrial (sprot)

description: A cytochrome c oxidase assembly protein COX11, mitochondrial that is encoded in the genome of human.


ORPHENADRINE CITRATE

A citrate salt which comprises equimolar amounts of orphenadrine and citric acid.


paranoid schizophrenia

description: A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


NEOSTIGMINE BROMIDE

The bromide salt of neostigmine.


A 3beta-sterol having the structure of cholesterol with a methylene group at C-24.


name: WDR6_HUMAN tRNA (34-2'-O)-methyltransferase regulator WDR6 (sprot)

description: A tRNA (34-2'-O)-methyltransferase regulator WDR6 that is encoded in the genome of human.


name: NDUA7_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 that is encoded in the genome of human.


trandolaprilat

A heterobicyclic compound that is trandolapril in which the ethyl ester group has been hydrolysed to the corresponding acid group. It is the active metabolite of the prodrug trandolapril.


name: QSER1_HUMAN Glutamine and serine-rich protein 1 (sprot)

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


hyperglycinuria

description: An increased concentration of glycine in the urine.


histidinemia

description: Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


5-aminonicotinic acid

An aminonicotinic acid in which the amino group is situated at position 5 of the pyridine ring.


bile duct disorder

description: A disease involving the bile duct.


cerebral cavernous malformation 3

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.


name: SEHL2_HUMAN Serine hydrolase-like protein 2 (sprot)

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


calcium oxide

A member of the class of calcium oxides of calcium and oxygen in a 1:1 ratio.


name: RNF26_HUMAN E3 ubiquitin-protein ligase RNF26 (sprot)

description: An E3 ubiquitin-protein ligase RNF26 that is encoded in the genome of human.


Short term memory impairment

description: A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).


Bethlem myopathy

description: A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.


ependymal tumor

description: A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)


name: O51E1_HUMAN Olfactory receptor 51E1 (sprot)

description: An olfactory receptor 51E1 that is encoded in the genome of human.


A 1,3-diglyceride in which both acyl groups are specified as octanoyl.


childhood low-grade glioma

description: A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.


pericardial tuberculosis

description: Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.


luminal A breast carcinoma

description: A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.


indole-3-carboxylic acid

An indole-3-carboxylic acid carrying a carboxy group at position 3.


name: IGFL1_HUMAN Insulin growth factor-like family member 1 (sprot)

description: An insulin growth factor-like family member 1 that is encoded in the genome of human.


PAPAS_HUMAN Protein PAPPAS (sprot)

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


Abnormal digit morphology

description: A morphological abnormality of a digit, i.e., of a finger or toe.


sn-glycerol 1-phosphate

An optically active glycerol 1-phosphate having (S)-configuration.


TRM1L_HUMAN TRMT1-like protein (sprot)

A TRM1-like protein that is encoded in the genome of human.


name: PKHH2_HUMAN Pleckstrin homology domain-containing family H member 2 (sprot)

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


TSN3_HUMAN Tetraspanin-3 (sprot)

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


ammonium fluoride

A fluoride salt having ammonium (NH4+) as the counterion.


name: congenital diarrhea 5 with tufting enteropathy

description: Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.


name: SAMD1_HUMAN Sterile alpha motif domain-containing protein 1 (sprot)

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


familial nonmedullary thyroid carcinoma

description: Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.


name: RMD2_HUMAN Regulator of microtubule dynamics protein 2 (sprot)

description: A regulator of microtubule dynamics protein 2 that is encoded in the genome of human.


name: Osteoarthritis of the first carpometacarpal joint


Carney complex

description: Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.


name: DQB2_HUMAN HLA class II histocompatibility antigen, DQ beta 2 chain (sprot)

description: An MHC class II histocompatibility antigen beta chain DQB2 that is encoded in the genome of human.


name: MMAA_HUMAN Methylmalonic aciduria type A protein, mitochondrial (sprot)

description: A methylmalonic aciduria type A, mitochondrial that is encoded in the genome of human.


isolated optic neuritis

description: A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.


3,4-dihydroxybutyric acid

A omega-hydroxy fatty acid that is butyric acid substituted by hydroxy groups at positions 3 and 4 respectively.


de Quervain disease

description: Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.


name: autoimmune disorder of central nervous system

description: A hypersensitivity reaction type II disease that involves the central nervous system.


name: GMEB1_HUMAN Glucocorticoid modulatory element-binding protein 1 (sprot)

description: A glucocorticoid modulatory element-binding protein 1 that is encoded in the genome of human.


name: S2544_HUMAN Solute carrier family 25 member 44 (sprot)

description: A solute carrier family 25 member 44 that is encoded in the genome of human.


avian influenza

description: Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.


nicotinyl alcohol

A member of the class of pyridines that is pyridine which is substituted by a hydroxymethyl group at position 3 .


name: GPR45_HUMAN Probable G-protein coupled receptor 45 (sprot)

description: A probable G-protein coupled receptor 45 that is encoded in the genome of human.


name: S35G3_HUMAN Solute carrier family 35 member G3 (sprot)

description: A solute carrier family 35 member G3 that is encoded in the genome of human.


name: ACKMT_HUMAN ATP synthase subunit C lysine N-methyltransferase (sprot)

description: An ATP synthase subunit C lysine N-methyltransferase that is encoded in the genome of human.


spindle cell rhabdomyosarcoma

description: An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


PALM3_HUMAN Paralemmin-3 (sprot)

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


name: OR1A2_HUMAN Olfactory receptor 1A2 (sprot)

description: An olfactory receptor 1A2 that is encoded in the genome of human.


name: DRB5_HUMAN HLA class II histocompatibility antigen, DR beta 5 chain (sprot)

description: An MHC class II histocompatibility antigen beta chain DRB5 that is encoded in the genome of human.


name: PA2GC_HUMAN Putative inactive group IIC secretory phospholipase A2 (sprot)

description: A group IIC secretory phospholipase A2 that is encoded in the genome of human. A substitution at a conserved active site residue likely renders it inactive.


Nasal chondritis

description: Inflammation of the cartilage of the nose.


colorectal lymphoma

description: An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.


KASH5_HUMAN Protein KASH5 (sprot)

A coiled-coil domain-containing protein 155 that is encoded in the genome of human.


name: MOT14_HUMAN Monocarboxylate transporter 14 (sprot)

description: A monocarboxylate transporter 14 that is encoded in the genome of human.


AQ12B_HUMAN Aquaporin-12B (sprot)

An aquaporin-12B that is encoded in the genome of human.


hereditary spastic paraplegia 3A

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.


name: LV151_HUMAN Immunoglobulin lambda variable 1-51 (sprot)

description: A protein that is a translation product of the IGLV1-51 gene in human.


S-ROLIPRAM

The (S)-enantiomer of rolipram.


F133B_HUMAN Protein FAM133B (sprot)

A protein FAM133B that is encoded in the genome of human.


name: ELP6_HUMAN Elongator complex protein 6 (sprot)

description: An elongator complex protein 6 that is encoded in the genome of human.


PRS53_HUMAN Serine protease 53 (sprot)

A serine protease 53 that is encoded in the genome of human.


N-acetyl-L-serine

An N-acetyl-L-amino acid in which the amino acid specified is L-serine. Metabolite observed in cancer metabolism.


name: UD2A1_HUMAN UDP-glucuronosyltransferase 2A1 (sprot)

description: A UDP-glucuronosyltransferase 2A1 that is encoded in the genome of human.


Hypophenylalaninemia

description: A decreased amount of phenylalanine in the blood.


name: BRNP2_HUMAN BMP/retinoic acid-inducible neural-specific protein 2 (sprot)

description: A BMP/retinoic acid-inducible neural-specific protein 2 that is encoded in the genome of human.


Bilateral cleft palate

description: Nonmidline cleft palate on the left and right sides.


name: PLAT5_HUMAN Phospholipase A and acyltransferase 5 (sprot)

description: A phospholipase A and acyltransferase 5 that is encoded in the genome of human.


sodium bromate

An inorganic sodium salt having bromate as the counterion.


name: RRF2M_HUMAN Ribosome-releasing factor 2, mitochondrial (sprot)

description: An elongation factor G 2, mitochondrial that is encoded in the genome of human.


vaginal adenoma

description: A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.


ovarian angiosarcoma

description: A malignant vascular neoplasm arising from the ovary.


balanitis xerotica obliterans

description: A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.


Reduced tendon reflexes

description: Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.


name: BN3D2_HUMAN RNA 5'-monophosphate methyltransferase (sprot)

description: A methyltransferase BCDIN3D that is encoded in the genome of human.


name: PHAR4_HUMAN Phosphatase and actin regulator 4 (sprot)

description: A phosphatase and actin regulator 4 that is encoded in the genome of human.


name: NDK6_HUMAN Nucleoside diphosphate kinase 6 (sprot)

description: A nucleoside diphosphate kinase 6 that is encoded in the genome of human.


Jacobsen syndrome

description: A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.


name: PSA4_HUMAN Proteasome subunit alpha type-4 (sprot)

description: A proteasome subunit alpha type-4 that is encoded in the genome of human.


name: BABA1_HUMAN BRISC and BRCA1-A complex member 1 (sprot)

description: A BRISC and BRCA1-A complex member 1 that is encoded in the genome of human.


name: PCSK7_HUMAN Proprotein convertase subtilisin/kexin type 7 (sprot)

description: A proprotein convertase subtilisin/kexin type 7 that is encoded in the genome of human.


Sterile pyuria

description: Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


rubeosis iridis

description: Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.


name: fetal and neonatal alloimmune thrombocytopenia

description: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


name: NUP85_HUMAN Nuclear pore complex protein Nup85 (sprot)

description: A nuclear pore complex protein Nup85 that is encoded in the genome of human.


Hearing abnormality

description: An abnormality of the sensory perception of sound.


fluorescein 5-isothiocyanate

The 5-isomer of fluorescein isothiocyanate. Acts as a fluorescent probe capable of being conjugated to tissue and proteins; used as a label in fluorescent antibody staining procedures as well as protein- and amino acid-binding techniques.


extraskeletal Ewing sarcoma

description: A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.


monastrol

A racemate comprising equimolar amounts of R- and S-monastrol.


name: U2AF1_HUMAN Splicing factor U2AF 35 kDa subunit (sprot)

description: A splicing factor U2AF 35 kDa subunit that is encoded in the genome of human.


name: PSD13_HUMAN 26S proteasome non-ATPase regulatory subunit 13 (sprot)

description: A 26S proteasome non-ATPase regulatory subunit 13 that is encoded in the genome of human.


name: ZDHC8_HUMAN Palmitoyltransferase ZDHHC8 (sprot)

description: A palmitoyltransferase ZDHHC8 that is encoded in the genome of human.


name: BEND5_HUMAN BEN domain-containing protein 5 (sprot)

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


Class III obesity

description: Obesity with a body mass index of 40 kg per square meter or higher.


cecum carcinoma

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


leukocyte adhesion deficiency type II

description: Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.


D107A_HUMAN Beta-defensin 107 (sprot)

A beta-defensin 107 that is encoded in the genome of human.


GRAK_HUMAN Granzyme K (sprot)

A granzyme K that is encoded in the genome of human.


KBG syndrome

description: KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.


name: CRLD1_HUMAN Cysteine-rich secretory protein LCCL domain-containing 1 (sprot)

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


name: striatal degeneration, autosomal dominant

description: An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.


granuloma inguinale

description: A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.


name: SNRPA_HUMAN U1 small nuclear ribonucleoprotein A (sprot)

description: A U1 small nuclear ribonucleoprotein A that is encoded in the genome of human.


polyp of rectum

description: A polyp that involves the rectum.


1-hexyl-3-methylimidazolium chloride

An organic chloride salt in which the cationic component is 1-hexyl-3-methylimidazolium.


name: TSYL4_HUMAN Testis-specific Y-encoded-like protein 4 (sprot)

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


Hydrophobia

description: The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.


Peripheral schwannoma

description: The presence of a peripheral schwannoma.


cutaneous candidiasis

description: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)


long QT syndrome 11

description: Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.


name: NPS3B_HUMAN Protein NipSnap homolog 3B (sprot)

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


trachea neoplasm

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


glycolate

A hydroxy monocarboxylic acid anion that is acetate where the methyl group has been hydroxylated.


name: immunodeficiency due to selective anti-polysaccharide antibody deficiency

description: Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).


CATO_HUMAN Cathepsin O (sprot)

A cathepsin O that is encoded in the genome of human.


postencephalitic Parkinson disease

description: A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.


C1q nephropathy

description: C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.


iron metabolism disease

description: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.


MLEC_HUMAN Malectin (sprot)

A malectin that is encoded in the genome of human.


name: BT3A1_HUMAN Butyrophilin subfamily 3 member A1 (sprot)

description: A butyrophilin subfamily 3 member A1 that is encoded in the genome of human.


PINOCEMBRIN

A dihydroxyflavanone in which the two hydroxy groups are located at positions 5 and 7. A natural product found in Piper sarmentosum and Cryptocarya chartacea.


name: RB40C_HUMAN Ras-related protein Rab-40C (sprot)

description: A Ras-related protein Rab-40C that is encoded in the genome of human.


pituitary gigantism

description: The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.


An aromatic ketone that is propiophenone bearing a methyl group at C-4.


name: WDR36_HUMAN WD repeat-containing protein 36 (sprot)

description: A WD repeat-containing protein 36 that is encoded in the genome of human.


name: DNMBP_HUMAN Dynamin-binding protein (sprot)

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


name: UBP20_HUMAN Ubiquitin carboxyl-terminal hydrolase 20 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 20 that is encoded in the genome of human.


voice disorders

description: A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.


name: RM52_HUMAN Large ribosomal subunit protein mL52 (sprot)

description: A large ribosomal subunit protein mL52 that is encoded in the genome of human.


name: AKNA_HUMAN Microtubule organization protein AKNA (sprot)

description: A microtubule organization protein AKNA that is encoded in the genome of human.


name: solitary median maxillary central incisor syndrome

description: A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.


name: Congenital sensorineural hearing impairment

description: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


papillary urothelial hyperplasia

description: A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003


(R)-monothioglycerol

A monothioglycerol that has R configuration.


name: ACHG_HUMAN Acetylcholine receptor subunit gamma (sprot)

description: An acetylcholine receptor subunit gamma that is encoded in the genome of human.


primary prostate urothelial carcinoma

description: An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.


lentigo maligna melanoma

description: Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.


cholecystolithiasis

description: Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.


Bloody mucoid diarrhea

description: Passage of many stools containing blood and mucus.


name: DCLK3_HUMAN Serine/threonine-protein kinase DCLK3 (sprot)

description: A serine/threonine-protein kinase DCLK3 that is encoded in the genome of human.


3-indole carboxylic acid glucuronide

An O-acyl carbohydrate obtained by formal condensation of the carboxy group of indole-3-carboxylic acid with the anomeric hydroxy group of beta-D-glucuronic acid.


name: GBP6_HUMAN Guanylate-binding protein 6 (sprot)

description: A guanylate-binding protein 6 that is encoded in the genome of human.


splenic tuberculosis

description: Infection of the spleen with species of mycobacterium.


name: ZMAT1_HUMAN Zinc finger matrin-type protein 1 (sprot)

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


name: KCTD3_HUMAN BTB/POZ domain-containing protein KCTD3 (sprot)

description: A BTB/POZ domain-containing protein KCTD3 that is encoded in the genome of human.


name: RN217_HUMAN E3 ubiquitin-protein ligase RNF217 (sprot)

description: An E3 ubiquitin-protein ligase RNF217 that is encoded in the genome of human.


DOXYCYCLINE HYDROCHLORIDE

The hydrochloride salt of doxycycline.


papillary conjunctivitis

description: Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.


farnesoic acid

A methyl-branched, trienoic fatty acid consisting of dodeca-2,6,10-trienoic acid having three methyl substituents at the 3-, 7- and 11-positions.


malignant exocrine pancreas neoplasm

description: A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.


transcobalamin II deficiency

description: Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.


name: ADAP2_HUMAN Arf-GAP with dual PH domain-containing protein 2 (sprot)

description: An Arf-GAP with dual PH domain-containing protein 2 that is encoded in the genome of human.


NIK deficiency

description: A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).


glycogen storage disease VI

description: Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.


dystonia 16

description: Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.


name: PPCT_HUMAN Phosphatidylcholine transfer protein (sprot)

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


A methylcatechol having a single methyl substituent at the 4-position. It has been isolated from Picea abies.


orbit sarcoma

description: A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.


talanin (human)

A ZNF365 gene translation product (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q70YC4-1.


adenoma of nipple

description: A adenoma that involves the nipple.


SAPROPTERIN DIHYDROCHLORIDE

The dihydrochloride salt of sapropterin. It is used for the diagnosis and treatment of variant forms of phenylketonuria (hyperphenylalaninaemia) associated with tetrahydrobiopterin deficiency. Natural cofactor for phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase, and nitric oxide synthetase.


malignant histiocytosis

description: Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.


description: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


TETRANGOMYCIN

An angucycline antibiotic that is 3,4-dihydrotetraphene-1,7,12(2H)-trione substituted by hydroxy groups at positions 3 and 8 and a methyl group at position 3 (the 3R stereoisomer) ring system. It is an antibiotic isolated from Streptomyces sp.


name: PPM1J_HUMAN Protein phosphatase 1J (sprot)

description: A protein phosphatase 1J that is encoded in the genome of human.


(+)-menthol

A p-menthan-3-ol which has (1S,2R,5S)-stereochemistry. In contrast to (-)-menthol, the (+)-enantiomer occurs only rarely in nature.


PARACHLOROPHENOL

A monochlorophenol substituted at the pare position by a chlorine atom.


balanitis

description: An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.


name: AGAP5_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 (sprot)

description: An Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 that is encoded in the genome of human.


name: PO210_HUMAN Nuclear pore membrane glycoprotein 210 (sprot)

description: A nuclear pore membrane glycoprotein 210 that is encoded in the genome of human.


Leber congenital amaurosis 3

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.


pituitary dwarfism

description: Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.


name: FHL5_HUMAN Four and a half LIM domains protein 5 (sprot)

description: A four and a half LIM domains protein 5 that is encoded in the genome of human.


name: O10J5_HUMAN Olfactory receptor 10J5 (sprot)

description: An olfactory receptor 10J5 that is encoded in the genome of human.


46,XX disorder of sex development

description: Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.


YIPF2_HUMAN Protein YIPF2 (sprot)

A protein YIPF2 that is encoded in the genome of human.


X-linked erythropoietic protoporphyria

description: X-linked form of erythropoietic protoporphyria.


PPoma

description: PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).


CRBB3_HUMAN Beta-crystallin B3 (sprot)

A beta-crystallin B3 that is encoded in the genome of human.


name: ODB2_HUMAN Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (sprot)

description: A lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial that is encoded in the genome of human.


SKF-96365 hydrochloride

The hydrochloride salt of SKF-96365. It is a TRP channel blocker.


warfarin sodium

A racemate comprising equal amounts of (R)- and (S)-warfarin sodium. Extensively used as both an anticoagulant drug and as a pesticide against rats and mice.


inherited hemoglobinopathy

description: An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.


name: NIPA1_HUMAN Magnesium transporter NIPA1 (sprot)

description: A magnesium transporter NIPA1 that is encoded in the genome of human.


acquired peripheral neuropathy

description: An instance of peripheral neuropathy that is acquired during the lifetime of the individual.


name: TARB1_HUMAN Probable methyltransferase TARBP1 (sprot)

description: A probable methyltransferase TARBP1 that is encoded in the genome of human.


TANGERETIN

A pentamethoxyflavone flavone with methoxy groups at positions 4', 5, 6 , 7 and 8.


lobular neoplasia

description: A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.


trigeminal autonomic cephalalgia

description: A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.


name: CEA19_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 19 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 19 that is encoded in the genome of human.


name: PI16_HUMAN Peptidase inhibitor 16 (sprot)

description: A peptidase inhibitor 16 that is encoded in the genome of human.


name: TM38B_HUMAN Trimeric intracellular cation channel type B (sprot)

description: A trimeric intracellular cation channel type B that is encoded in the genome of human.


name: BCD1_HUMAN Box C/D snoRNA protein 1 (sprot)

description: A Box C/D snoRNA protein 1 that is encoded in the genome of human.


Rest dyspnea

description: A perception of shortness of breath that occurs independently of exertion.


SRAC1_HUMAN Protein SERAC1 (sprot)

A protein SERAC1 that is encoded in the genome of human.


name: 4ET_HUMAN Eukaryotic translation initiation factor 4E transporter (sprot)

description: A eukaryotic translation initiation factor 4E transporter that is encoded in the genome of human.


mucopolysaccharidosis type 7

description: Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.


Limb-girdle muscle weakness

description: Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.


SPB10_HUMAN Serpin B10 (sprot)

A serpin B10 that is encoded in the genome of human.


sodium tungstate dihydrate

A hydrate that is the dihydrate form of sodium tungstate. Combines with hydrogen peroxide for the oxidation of secondary amines to nitrones


DIMETHYLALLYL DIPHOSPHATE

A prenol phosphate that is a phosphoantigen comprising the O-pyrophosphate of prenol.


DESOXYPODOPHYLLOTOXIN

A member of the class of furonaphthodioxoles that is (5R,5aR,8aR)-5,8,8a,9-tetrahydro-2H-furo[3',4':6,7]naphtho[2,3-d][1,3]dioxol-6(5aH)-one substituted at position 5 by a 3,4,5-trimethoxyphenyl group.


name: ASB1_HUMAN Ankyrin repeat and SOCS box protein 1 (sprot)

description: An ankyrin repeat and SOCS box protein 1 that is encoded in the genome of human.


name: KLH34_HUMAN Kelch-like protein 34 (sprot)

description: A kelch-like protein 34 that is encoded in the genome of human.


name: SIAT6_HUMAN CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (sprot)

description: A CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase that is encoded in the genome of human.


Vascular calcification

description: Abnormal calcification of the vasculature.


name: PCDA1_HUMAN Protocadherin alpha-1 (sprot)

description: A protocadherin alpha-1 that is encoded in the genome of human.


name: ID3_HUMAN DNA-binding protein inhibitor ID-3 (sprot)

description: A DNA-binding protein inhibitor ID-3 that is encoded in the genome of human.


name: WTIP_HUMAN Wilms tumor protein 1-interacting protein (sprot)

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


name: EBPL_HUMAN Emopamil-binding protein-like (sprot)

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


name: DGKB_HUMAN Diacylglycerol kinase beta (sprot)

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


Crigler-Najjar syndrome type 2

description: Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.


name: BRWD3_HUMAN Bromodomain and WD repeat-containing protein 3 (sprot)

description: A bromodomain and WD repeat-containing protein 3 that is encoded in the genome of human.


name: CYRIA_HUMAN CYFIP-related Rac1 interactor A (sprot)

description: A CYFIP-related Rac1 interactor A that is encoded in the genome of human.


octanoate

A straight-chain saturated fatty acid anion that is the conjugate base of octanoic acid (caprylic acid); believed to block adipogenesis.


digestive system melanoma

description: A melanoma that arises from any part of the digestive system.


name: GT253_HUMAN Inactive glycosyltransferase 25 family member 3 (sprot)

description: A glycosyltransferase 25 family member 3 that is encoded in the genome of human.


name: CFA73_HUMAN Cilia- and flagella-associated protein 73 (sprot)

description: A cilia- and flagella-associated protein 73 that is encoded in the genome of human.


GM1 gangliosidosis type 2

description: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.


name: NU160_HUMAN Nuclear pore complex protein Nup160 (sprot)

description: A nuclear pore complex protein Nup160 that is encoded in the genome of human.


congenital varicella syndrome

description: Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.


cresyl violet

A cationic heterotetracyclic fluorescent dye derived from benzo[a]phenoxazine.


name: QRFPR_HUMAN Pyroglutamylated RF-amide peptide receptor (sprot)

description: A pyroglutamylated RF-amide peptide receptor that is encoded in the genome of human.


name: TM2D2_HUMAN TM2 domain-containing protein 2 (sprot)

description: A TM2 domain-containing protein 2 that is encoded in the genome of human.


name: TM2D3_HUMAN TM2 domain-containing protein 3 (sprot)

description: A TM2 domain-containing protein 3 that is encoded in the genome of human.


neoplasm of pericardium

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


leupeptin hemisulfate

A peptide sulfate salt obtained by combining leupeptin with 0.5 molar equivalents of sulfuric acid.


Abnormality of the immune system

description: An abnormality of the immune system.


name: B3A4_HUMAN Anion exchange protein 4 (sprot)

description: An anion exchange protein 4 that is encoded in the genome of human.


CHLOROCRESOL

A hydroxytoluene that is 3-methylphenol which is substituted by a chlorine at position 4. A ryanodine receptor agonist.


name: GSAP_HUMAN Gamma-secretase-activating protein (sprot)

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


name: AP1G1_HUMAN AP-1 complex subunit gamma-1 (sprot)

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


Subcortical dementia

description: A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.


autosomal recessive osteopetrosis

description: An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.


MYH15_HUMAN Myosin-15 (sprot)

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


name: EDAD_HUMAN Ectodysplasin-A receptor-associated adapter protein (sprot)

description: An ectodysplasin-A receptor-associated adapter protein that is encoded in the genome of human.


sacrococcygeal teratoma

description: A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


name: ADAM2_HUMAN Disintegrin and metalloproteinase domain-containing protein 2 (sprot)

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


long-chain fatty aldehyde

A fatty aldehyde that has a chain length ranging from C13 to C22.


name: ZNF8_HUMAN Zinc finger protein 8 (sprot)

description: A zinc finger protein 8 that is encoded in the genome of human.


vascular brain injury

description: Damage to the blood vessels of the brain


palovarotene

An olefinic compound that is ethene is which a hydrogen at position 1 is replaced by a 4-carboxyphenyl group and a hydrogen at position 2 is replaced by a 5,5,8,8-tetramethyl-3-[(1H-pyrazol-1-yl)methyl]-5,6,7,8-tetrahydronaphthalen-2-yl group (the E-stereoisomer). It is a selective retinoic acid receptor gamma (RARgamma) agonist developed by Ipsen, to reduce the formation of new heterotopic ossification in adults and children with fibrodysplasia ossificans progressiva (FOP), a rare bone disorder.


malignant neoplasm of chest wall

description: A cancer that involves the chest wall.


name: LAX1_HUMAN Lymphocyte transmembrane adapter 1 (sprot)

description: A lymphocyte transmembrane adapter 1 that is encoded in the genome of human.


lauroyl-CoA

A medium-chain fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of lauric (dodecanoic) acid.


Male anorgasmia

description: Inability of a male to reach orgasm.


KISHA_HUMAN Protein kish-A (sprot)

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


name: TMM65_HUMAN Transmembrane protein 65 (sprot)

description: A transmembrane protein 65 that is encoded in the genome of human.


Heinz body anemia

description: Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.


angiomatosis

description: A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.


Renal steatosis

description: Abnormal fat accumulation in the kidneys.


name: UBP30_HUMAN Ubiquitin carboxyl-terminal hydrolase 30 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 30 that is encoded in the genome of human.


acute gonococcal cervicitis

description: Acute form of gonococcal cervicitis.


name: MYZAP_HUMAN Myocardial zonula adherens protein (sprot)

description: A myocardial zonula adherens protein that is encoded in the genome of human.


Rowell syndrome

description: A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.


name: RM15_HUMAN Large ribosomal subunit protein uL15m (sprot)

description: A large ribosomal subunit protein uL15m that is encoded in the genome of human.


A phlorotannin that is eckol in which the hydroxy group at position 7 is replaced by a 2,4,6-trihydroxyphenoxy group. Isolated from the marine brown alga, Ecklonia cava, it exhibits antioxidant activity.


name: BHMT2_HUMAN S-methylmethionine--homocysteine S-methyltransferase BHMT2 (sprot)

description: A betaine--homocysteine S-methyltransferase 2 that is encoded in the genome of human.


respiratory system cancer

description: A malignant neoplasm involving the respiratory system


intestinal schistosomiasis

description: An intestinal infection that is caused by Schistosoma japonicum.


name: U119B_HUMAN Protein unc-119 homolog B (sprot)

description: A protein unc-119 homolog B that is encoded in the genome of human.


rectal neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


male orgasm disorder

description: Persistent delay or absence in orgasm not accounted for by a medical reason.


name: CENPI_HUMAN Centromere protein I (sprot)

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


dipalmitoyl phosphatidylglycerol

A phosphatidylglycerol in which the phosphatidyl acyl groups are both palmitoyl.


optic nerve sheath meningioma

description: A meningioma that affects the sheath of the optic nerve.


Submandibular lymph node enlargement

description: Increased size of the lymph nodes that are located beneath the mandible (lower jaw).


NXPH2_HUMAN Neurexophilin-2 (sprot)

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


name: thyroid gland oncocytic follicular carcinoma

description: A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.


A dimethylpyrimido[4,5-b][1,4]benzodiazepin-6-one carrying at C-2 on the pyrimidine ring a [2-ethoxy-4-(4-hydroxypiperidin-1-yl)phenyl]amino substituent.  It is an inhibitor of the BMK1 kinase pathway.


name: CCYL1_HUMAN Cyclin-Y-like protein 1 (sprot)

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


DIPHENOXYLATE HYDROCHLORIDE

The hydrochloride salt of diphenoxylate.


name: T161B_HUMAN Transmembrane protein 161B (sprot)

description: A transmembrane protein 161B that is encoded in the genome of human.


name: HSP13_HUMAN Heat shock 70 kDa protein 13 (sprot)

description: A heat shock 70 kDa protein 13 that is encoded in the genome of human.


H syndrome

description: A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).


pivalate

A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of pivalic acid.


name: LCE3E_HUMAN Late cornified envelope protein 3E (sprot)

description: A late cornified envelope protein 3E that is encoded in the genome of human.


name: RIPR1_HUMAN Rho family-interacting cell polarization regulator 1 (sprot)

description: A Rho family-interacting cell polarization regulator 1 that is encoded in the genome of human.


Intermittent hypothermia

description: Episodes of reduced body termperature.


name: ABCD4_HUMAN Lysosomal cobalamin transporter ABCD4 (sprot)

description: A lysosomal cobalamin transporter ABCD4 that is encoded in the genome of human.


A monochlorophenol carrying the chloro substituent at position 3.


Upper limb dysmetria

description: A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.


lactose intolerance

description: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine.  Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.


PLXC1_HUMAN Plexin-C1 (sprot)

A plexin-C1 that is encoded in the genome of human.


bone epithelioid hemangioma

description: A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.


acute panmyelosis with myelofibrosis

description: An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.


neuroschistosomiasis

description: Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)


F136A_HUMAN Protein FAM136A (sprot)

A protein FAM136A that is encoded in the genome of human.


An  indole alkaloid that is canthin-6-one substituted by a hydroxy group at position 9. Isolated from the roots of Eurycoma longifolia, it exhibits antineoplastic activity.


Abnormal ovarian physiology

description: Any anomaly of ovarian function.


name: CENPN_HUMAN Centromere protein N (sprot)

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


name: TBAL3_HUMAN Tubulin alpha chain-like 3 (sprot)

description: A tubulin alpha chain-like 3 that is encoded in the genome of human.


verrucous carcinoma of oral cavity

description: A verrucous carcinoma that involves the oral cavity.


ocular albinism

description: Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.


name: S6A17_HUMAN Sodium-dependent neutral amino acid transporter SLC6A17 (sprot)

description: A sodium-dependent neutral amino acid transporter SLC6A17 that is encoded in the genome of human.


Gaucher disease type II

description: Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.


Ankle weakness

description: Reduced strength of the muscles that lift or otherwise move the foot at the ankle.


hereditary skin disorder

description: An instance of skin disease that is caused by a modification of the individual's genome.


name: ER6L2_HUMAN DNA excision repair protein ERCC-6-like 2 (sprot)

description: A DNA excision repair protein ERCC-6-like 2 that is encoded in the genome of human.


tumor of parathyroid gland

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


name: CCD22_HUMAN Coiled-coil domain-containing protein 22 (sprot)

description: A coiled-coil domain-containing protein 22 that is encoded in the genome of human.


kenpaullone

An indolobenzazepine that is paullone in which the hydrogen at position 9 is replaced by a bromo substituent. It is an ATP-competitive inhibitor of cyclin-dependent kinases (CDKs) and glycogen synthase kinase 3beta (GSK3beta).


name: TAAR2_HUMAN Trace amine-associated receptor 2 (sprot)

description: A trace amine-associated receptor 2 that is encoded in the genome of human.


ZWINT_HUMAN ZW10 interactor (sprot)

A ZW10 interactor that is encoded in the genome of human.


pseudorabies

description: A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.


name: PXT1_HUMAN Peroxisomal testis-specific protein 1 (sprot)

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


name: SIG16_HUMAN Sialic acid-binding Ig-like lectin 16 (sprot)

description: A sialic acid-binding Ig-like lectin 16 that is encoded in the genome of human.


name: ZC3H3_HUMAN Zinc finger CCCH domain-containing protein 3 (sprot)

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


Short 5th finger

description: Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.


name: RL22L_HUMAN Ribosomal protein eL22-like (sprot)

description: A ribosomal protein eL22-like that is encoded in the genome of human.


name: TTC7A_HUMAN Tetratricopeptide repeat protein 7A (sprot)

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


name: ZN143_HUMAN Zinc finger protein 143 (sprot)

description: A zinc finger protein 143 that is encoded in the genome of human.


pyriform sinus cancer

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


name: ZMAT2_HUMAN Zinc finger matrin-type protein 2 (sprot)

description: A zinc finger matrin-type protein 2 that is encoded in the genome of human.


Christmas tree cataract

description: A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.


refractory hematologic cancer

description: A hematologic malignancy that is resistant to treatment.


rhinophyma

description: Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.


name: monocytopenia with susceptibility to infections


tendinosis

description: The chronic degeneration of a tendon without inflammation.


name: DUS1L_HUMAN tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like (sprot)

description: A tRNA-dihydrouridine synthase 1-like that is encoded in the genome of human.


adamantinous craniopharyngioma

description: A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)


name: ALKB7_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial (sprot)

description: An alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial that is encoded in the genome of human.


name: YPEL4_HUMAN Protein yippee-like 4 (sprot)

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


GLPB_HUMAN Glycophorin-B (sprot)

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


isolated spina bifida

description: A spina bifida (disease) that is not part of a larger syndrome.


name: A7L3B_HUMAN Ataxin-7-like protein 3B (sprot)

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


name: metastatic malignant neoplasm in the eye

description: A malignant neoplasm that has spread to the eye from another anatomic site.


name: GON7_HUMAN EKC/KEOPS complex subunit GON7 (sprot)

description: A protein that is a translation product of the GON7 gene in human.


Hyperprostaglandinuria

description: An increased concentration of prostaglandin in the urine.


name: ANKL1_HUMAN Ankyrin repeat and LEM domain-containing protein 1 (sprot)

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


lymphangiosarcoma

description: A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.


name: MBTD1_HUMAN MBT domain-containing protein 1 (sprot)

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


name: RM49_HUMAN Large ribosomal subunit protein mL49 (sprot)

description: A large ribosomal subunit protein mL49 that is encoded in the genome of human.


3-hydroxypyridine sulfate

A member of the class of pyridines that is 3-hydroxypyridine in which the hydroxy hydrogen has been replaced by a sulfo group.


infectious bovine rhinotracheitis

description: A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.


name: succinyl-CoA:3-ketoacid CoA transferase deficiency

description: Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.


name: VSIG1_HUMAN V-set and immunoglobulin domain-containing protein 1 (sprot)

description: A V-set and immunoglobulin domain-containing protein 1 that is encoded in the genome of human.


14-methylpentadecanoic acid

A methyl-branched fatty acid that is pentadecanoic acid substituted by a methyl group at position 14. It is a biomarker for rheumatoid arthritis.


name: PRAC1_HUMAN Small nuclear protein PRAC1 (sprot)

description: A small nuclear protein PRAC1 that is encoded in the genome of human.


Epidermal acanthosis

description: Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).


name: LYZL6_HUMAN Lysozyme-like protein 6 (sprot)

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


name: DISP3_HUMAN Protein dispatched homolog 3 (sprot)

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


Bence Jones Proteinuria

description: The presence of free monoclonal immunoglobulin light chains in the urine.


name: SBK2_HUMAN Serine/threonine-protein kinase SBK2 (sprot)

description: A serine/threonine-protein kinase SBK2 that is encoded in the genome of human.


A  quinone imine that is indophenol substituted by chloro groups at positions 2 and 6.


name: TO20L_HUMAN TOMM20-like protein 1 (sprot)

description: A TOMM20-like protein 1 that is encoded in the genome of human.


SYT3_HUMAN Synaptotagmin-3 (sprot)

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


name: CXE1_HUMAN Putative gap junction epsilon-1 protein (sprot)

description: A putative gap junction epsilon-1 protein that is encoded in the genome of human.


pigment dispersion syndrome

description: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.


Trachyonychia

description: Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.


strongyloidiasis

description: An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.


PSEUDOEPHEDRINE HYDROCHLORIDE

A hydrochloride that is the monohydrochloride salt of pseudoephedrine.


Hand muscle atrophy

description: Muscular atrophy involving the muscles of the hand.


name: B4GA1_HUMAN Beta-1,4-glucuronyltransferase 1 (sprot)

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


name: TX264_HUMAN Testis-expressed protein 264 (sprot)

description: A testis-expressed protein 264 that is encoded in the genome of human.


name: ABHGA_HUMAN Phosphatidylserine lipase ABHD16A (sprot)

description: A phosphatidylserine lipase ABHD16A that is encoded in the genome of human.


oral hairy leukoplakia

description: An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.


Mucinous colorectal carcinoma

description: A subtype of colorectal carcinoma with mucin lakes.


SALUBRINAL

A member of the class of quinolines that is a mixed aminal resulting from the formal condensation oftrichloroacetaldehyde with the amide nitrogen of trans-cinnamamide and the primary amino group of 1-quinolin-8-ylthiourea. It is a selective inhibitor of cellular complexes that dephosphorylate eukaryotic translation initiation factor 2 subunit alpha (eIF2alpha).


linear scleroderma

description: A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.


CP4X1_HUMAN Cytochrome P450 4X1 (sprot)

A cytochrome P450 4X1 that is encoded in the genome of human.


liver abscess (disease)

description: An abscess that involves the liver.


lipid A

The glycolipid moiety of bacterial lipopolysaccharide (R can be either hydrogen or a fatty acyl group).


onchocerciasis

description: Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.


name: OTOP2_HUMAN Proton channel OTOP2 (sprot)

description: A proton channel OTOP2 that is encoded in the genome of human.


alpha-D-glucose 1,6-bisphosphate

A D-glucose 1,6-bisphosphate in which both phosphate groups are monophosphates.


diphenyleneiodonium chloride

An organic chloride salt having dibenziodolium as the counterion.


SPATHULENOL

A tricyclic sesquiterpenoid that is 4-methylidenedecahydro-1H-cyclopropa[e]azulene carrying three methyl substituents at positions 1, 1 and 7 as well as a hydroxy substituent at position 7.


Stage 3 chronic kidney disease

description: A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).


name: LCE1F_HUMAN Late cornified envelope protein 1F (sprot)

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


Chuvash polycythemia

description: Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.


CLD23_HUMAN Claudin-23 (sprot)

A claudin-23 that is encoded in the genome of human.


name: GADL1_HUMAN Acidic amino acid decarboxylase GADL1 (sprot)

description: An acidic amino acid decarboxylase GADL1 that is encoded in the genome of human.


Dubowitz syndrome

description: A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.


rhinosporidiosis

description: Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.


Muscle fiber necrosis

description: Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.


ethyl 3-hydroxyhexanoate

A fatty acid ester that is the ethyl ester of 3-hydroxyhexanoic acid.


CLAPO syndrome

description: CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).


osteogenesis imperfecta type 3

description: Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).


name: ZN266_HUMAN Zinc finger protein 266 (sprot)

description: A zinc finger protein 266 that is encoded in the genome of human.


breast fibrosis

description: Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.


aortopulmonary window

description: A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.


Brugada syndrome 1

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.


Poikiloderma

description: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.


familial cervical artery dissection

description: An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.


FRG2_HUMAN Protein FRG2 (sprot)

A protein FRG2 that is encoded in the genome of human.


Bilirubinuria

description: Presence of conjugated bilirubin in the urine.


phosphorus metabolism disease

description: A metabolic disorder that affects the phosphate homeostasis.


ethchlorvynol

Propargyl alcohol in which the methylene hydrogens are substituted by ethyl and 2-chlorovinyl groups. A hypnotic and sedative, it is used for treatment of insomnia in some cases where an intolerance or allergy to more commonly used drugs exists.


name: GLT17_HUMAN Polypeptide N-acetylgalactosaminyltransferase 17 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 17 that is encoded in the genome of human.


inherited kidney disorder

description: A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.


name: CLM5_HUMAN CMRF35-like molecule 5 (sprot)

description: A CMRF35-like molecule 5 that is encoded in the genome of human.


schistosomiasis

description: An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.


name: GUAA_HUMAN GMP synthase [glutamine-hydrolyzing] (sprot)

description: A GMP synthase [glutamine-hydrolyzing] that is encoded in the genome of human.


name: BRAT1_HUMAN BRCA1-associated ATM activator 1 (sprot)

description: A BRCA1-associated ATM activator 1 that is encoded in the genome of human.


name: WDR90_HUMAN WD repeat-containing protein 90 (sprot)

description: A WD repeat-containing protein 90 that is encoded in the genome of human.


amyotrophic lateral sclerosis type 11

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.


retinitis pigmentosa 1

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.


name: mucoepidermoid carcinoma of parotid gland

description: A mucoepidermoid carcinoma that involves the parotid gland.


Coffin-Siris syndrome 6

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.


Leukonychia

description: White discoloration of the nails.


name: EI2BD_HUMAN Translation initiation factor eIF2B subunit delta (sprot)

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


nepicastat

A member of the class of 1,3-dihydroimidazole-2-thiones that is 1,3-dihydro-2H-imidazole-2-thione in which one of the nitrogens is substituted by a 5,7-difluoro-1,2,3,4-tetrahydronaphthalen-2-yl group while the carbon adjacent to it is substituted by an aminomethyl group (the S enantiomer). It is a potent and selective inhibitor of both bovine and human dopamine beta-hydroxylase, an enzyme that catalyzes the conversion of dopamine to norepinephrine.


Multiple renal cysts

description: The presence of many cysts in the kidney.


viral esophagitis

description: Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.


Hemiplegia/hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.


spinal muscular atrophy, type IV

description: Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


pancreatic exocrine neoplasm

description: A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.