Pigmentary retinopathy

description: An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.


name: PTSS2_HUMAN Phosphatidylserine synthase 2 (sprot)

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


name: ALPK1_HUMAN Alpha-protein kinase 1 (sprot)

description: An alpha-protein kinase 1 that is encoded in the genome of human.


KAZRN_HUMAN Kazrin (sprot)

A kazrin that is encoded in the genome of human.


name: ARVC_HUMAN Splicing regulator ARVCF (sprot)

description: A splicing regulator ARVCF that is encoded in the genome of human.


name: AL3B1_HUMAN Aldehyde dehydrogenase family 3 member B1 (sprot)

description: An aldehyde dehydrogenase family 3 member B1 that is encoded in the genome of human.


acute otitis externa

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

description: Acute form of otitis externa.


plumbagin

A  hydroxy-1,4-naphthoquinone that is 1,4-naphthoquinone in which the hydrogens at positions 2 and 5 are substituted by methyl and hydroxy groups, respectively.


DIETHYLAMINE

A secondary aliphatic amine where both N-substituents are ethyl.


MIDODRINE HYDROCHLORIDE

A hydrochloride resulting from the combination of equimolar amounts of midodrine and hydrogen chloride. Midodrine is a direct-acting sympathomimetic with selective alpha-adrenergic agonist activity. The hydrochloride salt is used as a peripheral vasoconstrictor in the treatment of certain hypotensive states. The main active moiety is its major metabolite, deglymidodrine.


name: NEK5_HUMAN Serine/threonine-protein kinase Nek5 (sprot)

description: A serine/threonine-protein kinase Nek5 that is encoded in the genome of human.


CDP-ethanolamine

A phosphoethanolamine consisting of ethanolamine having a cytidine 5'-diphosphate moiety attached to the oxygen.


name: GIMA4_HUMAN GTPase IMAP family member 4 (sprot)

description: A GTPase IMAP family member 4 that is encoded in the genome of human.


NOL4_HUMAN Nucleolar protein 4 (sprot)

A nucleolar protein 4 that is encoded in the genome of human.


Atonic seizure

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

description: Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.


name: bladder inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


name: FBX38_HUMAN F-box only protein 38 (sprot)

description: An F-box only protein 38 that is encoded in the genome of human.


name: NPFF2_HUMAN Neuropeptide FF receptor 2 (sprot)

description: A neuropeptide FF receptor 2 that is encoded in the genome of human.


name: YPEL1_HUMAN Protein yippee-like 1 (sprot)

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


TETRAMETHYLAMMONIUM ION

The simplest quaternary ammonium cation, comprising a central nitrogen linked to four methyl groups.


name: IDD_HUMAN Integral membrane protein DGCR2/IDD (sprot)

description: An integral membrane protein DGCR2/IDD that is encoded in the genome of human.


congenital mesoblastic nephroma

description: A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.


gastroschisis

description: Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.


name: PURG_HUMAN Purine-rich element-binding protein gamma (sprot)

description: A purine-rich element-binding protein gamma that is encoded in the genome of human.


squamous papilloma

description: A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.


pregnancy disorder

description: A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.


name: ELP5_HUMAN Elongator complex protein 5 (sprot)

description: An elongator complex protein 5 that is encoded in the genome of human.


name: ZPBP2_HUMAN Zona pellucida-binding protein 2 (sprot)

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


name: LPD6B_HUMAN Ly6/PLAUR domain-containing protein 6B (sprot)

description: An Ly6/PLAUR domain-containing protein 6B that is encoded in the genome of human.


cervical carcinosarcoma

description: A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


lymphomatoid papulosis

description: Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.


renal pelvis urothelial carcinoma

description: A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.


name: TRHDE_HUMAN Thyrotropin-releasing hormone-degrading ectoenzyme (sprot)

description: A thyrotropin-releasing hormone-degrading ectoenzyme that is encoded in the genome of human.


name: FOXB2_HUMAN Forkhead box protein B2 (sprot)

description: A forkhead box protein B2 that is encoded in the genome of human.


fungal infection of eye

description: Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.


migraine without aura

description: A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.


name: CC50A_HUMAN Cell cycle control protein 50A (sprot)

description: A cell cycle control protein 50A that is encoded in the genome of human.


name: MED9_HUMAN Mediator of RNA polymerase II transcription subunit 9 (sprot)

description: A mediator of RNA polymerase II transcription subunit 9 that is encoded in the genome of human.


name: SESD1_HUMAN SEC14 domain and spectrin repeat-containing protein 1 (sprot)

description: A SEC14 domain and spectrin repeat-containing protein 1 that is encoded in the genome of human.


EPHX3_HUMAN Epoxide hydrolase 3 (sprot)

An epoxide hydrolase 3 that is encoded in the genome of human.


name: WFDC1_HUMAN WAP four-disulfide core domain protein 1 (sprot)

description: A WAP four-disulfide core domain protein 1 that is encoded in the genome of human.


myofibroma

description: A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.


oculocutaneous albinism type 1

description: Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).


p-toluate

A toluate that is the conjugate base of p-toluic acid, obtained by deprotonation of the carboxy group.


name: PHLB3_HUMAN Pleckstrin homology-like domain family B member 3 (sprot)

description: A pleckstrin homology-like domain family B member 3 that is encoded in the genome of human.


name: RHBT1_HUMAN Rho-related BTB domain-containing protein 1 (sprot)

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


name: RET7_HUMAN Retinoid-binding protein 7 (sprot)

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


SPDLY_HUMAN Protein Spindly (sprot)

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


name: MOCS3_HUMAN Adenylyltransferase and sulfurtransferase MOCS3 (sprot)

description: An adenylyltransferase and sulfurtransferase MOCS3 that is encoded in the genome of human.


name: GASP3_HUMAN G protein-coupled receptor associated sorting protein 3 (sprot)

description: A G protein-coupled receptor associated sorting protein 3 that is encoded in the genome of human.


name: PTGR3_HUMAN Prostaglandin reductase 3 (sprot)

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


name: CHST4_HUMAN Carbohydrate sulfotransferase 4 (sprot)

description: A carbohydrate sulfotransferase 4 that is encoded in the genome of human.


Hypergranulosis

description: Hypergranulosis is an increased thickness of the stratum granulosum.


bambuterol hydrochloride

The hydrochloride salt of bambuterol. A long acting beta-adrenoceptor agonist used in the treatment of asthma, it is a prodrug for terbutaline.


name: U119A_HUMAN Protein unc-119 homolog A (sprot)

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


name: agenesis of the corpus callosum with peripheral neuropathy

description: Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.


name: S45A1_HUMAN Proton-associated sugar transporter A (sprot)

description: A proton-associated sugar transporter A that is encoded in the genome of human.


Dubin-Johnson syndrome

description: Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.


name: COA4_HUMAN Cytochrome c oxidase assembly factor 4 homolog, mitochondrial (sprot)

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


name: DNJA4_HUMAN DnaJ homolog subfamily A member 4 (sprot)

description: A DnaJ homolog subfamily A member 4 that is encoded in the genome of human.


MEDNIK syndrome

description: MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).


name: CBPC5_HUMAN Cytosolic carboxypeptidase-like protein 5 (sprot)

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


cerebral toxoplasmosis

description: Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)


name: N4BP3_HUMAN NEDD4-binding protein 3 (sprot)

description: A NEDD4-binding protein 3 that is encoded in the genome of human.


THMS2_HUMAN Protein THEMIS2 (sprot)

An induced by contact to basement membrane 1 protein that is encoded in the genome of human.


name: PAR15_HUMAN Protein mono-ADP-ribosyltransferase PARP15 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP15 that is encoded in the genome of human.


name: combined immunodeficiency due to DOCK8 deficiency

description: Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).


name: FSIP2_HUMAN Fibrous sheath-interacting protein 2 (sprot)

description: A fibrous sheath-interacting protein 2 that is encoded in the genome of human.


aphthous stomatitis

description: A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.


Bradykinesia

description: Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).


name: WBP4_HUMAN WW domain-binding protein 4 (sprot)

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


transient congenital hypothyroidism

description: A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.


syphilitic meningitis

description: An infectious meningitis caused by infection with Treponema.


filariasis

description: A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.


postorgasmic illness syndrome

description: A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.


name: GLT14_HUMAN Polypeptide N-acetylgalactosaminyltransferase 14 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 14 that is encoded in the genome of human.


name: RHOU_HUMAN Rho-related GTP-binding protein RhoU (sprot)

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


formoterol fumarate

A racemate consisting of equal amounts of arformoterol fumarate (the active enantiomer) and (S,S)-formoterol fumarate (the inactive enantiomer). It is used (particularly in its dihydrate form) as a direct-acting sympathomimetic and bronchodilator for the treatment of chronic obstructive pulmonary disease (any progressive respiratory disease that makes it harder to breathe over time, such as chronic bronchitis and emphysema).


LORCASERIN HYDROCHLORIDE

A hydrochloride obtained by reaction of lorcaserin with one equivalent of hydrochloric acid. Used as an anti-obesity drug.


Ebstein anomaly

description: Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.


name: TSSK4_HUMAN Testis-specific serine/threonine-protein kinase 4 (sprot)

description: A testis-specific serine/threonine-protein kinase 4 that is encoded in the genome of human.


name: PRR5L_HUMAN Proline-rich protein 5-like (sprot)

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


name: CNGB3_HUMAN Cyclic nucleotide-gated channel beta-3 (sprot)

description: A cyclic nucleotide-gated cation channel beta-3 that is encoded in the genome of human.


name: PP6R1_HUMAN Serine/threonine-protein phosphatase 6 regulatory subunit 1 (sprot)

description: A serine/threonine-protein phosphatase 6 regulatory subunit 1 that is encoded in the genome of human.


2-methylbutyric acid

A methylbutyric acid comprising a butyric acid core carrying a 2-methyl substituent. Produced from amino acid leucine during nutrient starvation in bacteria.


name: RNF10_HUMAN E3 ubiquitin-protein ligase RNF10 (sprot)

description: An E3 ubiquitin-protein ligase RNF10 that is encoded in the genome of human.


name: NOTUM_HUMAN Palmitoleoyl-protein carboxylesterase NOTUM (sprot)

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


name: TAPT1_HUMAN Transmembrane anterior posterior transformation protein 1 homolog (sprot)

description: A transmembrane anterior posterior transformation protein 1 that is encoded in the genome of human.


name: PHAR2_HUMAN Phosphatase and actin regulator 2 (sprot)

description: A phosphatase and actin regulator 2 that is encoded in the genome of human.


lymphogranuloma venereum

description: Infection with the organism Mycobacterium.


name: P5CR3_HUMAN Pyrroline-5-carboxylate reductase 3 (sprot)

description: A pyrroline-5-carboxylate reductase 3 that is encoded in the genome of human.


name: RAB2B_HUMAN Ras-related protein Rab-2B (sprot)

description: A Ras-related protein Rab-2B that is encoded in the genome of human.


name: RASF9_HUMAN Ras association domain-containing protein 9 (sprot)

description: A Ras association domain-containing protein 9 that is encoded in the genome of human.


glucocorticoid resistance

description: An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.


Specific anosmia

description: Anosmia for one particular odor.


LYSINE HYDROCHLORIDE

The hydrochloride salt of L-lysine


name: RBM46_HUMAN Probable RNA-binding protein 46 (sprot)

description: A probable RNA-binding protein 46 that is encoded in the genome of human.


name: RN187_HUMAN E3 ubiquitin-protein ligase RNF187 (sprot)

description: An E3 ubiquitin-protein ligase RNF187 that is encoded in the genome of human.


GLPK_HUMAN Glycerol kinase (sprot)

A glycerol kinase that is encoded in the genome of human.


name: isolated focal cortical dysplasia type IIb


benign neonatal seizures

description: A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.


LIPM_HUMAN Lipase member M (sprot)

A lipase member M that is encoded in the genome of human.


CBLN3_HUMAN Cerebellin-3 (sprot)

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


name: S17A4_HUMAN Probable small intestine urate exporter (sprot)

description: A probable small intestine urate exporter that is encoded in the genome of human.


malignant teratoma

description: A malignant form of teratoma.


Irregular menstruation

description: Abnormally high variation in the amount of time between periods.


oxalacetic acid

An oxodicarboxylic acid that is succinic acid bearing a single oxo group.


EPOXOMYCIN

A tripeptide consisting of an Ile-Ile-Thr-NH2 sequence N-substituted on the threonamide amidic nitrogen with a (2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl group and with acetyl and methyl groups on the nitrogen of the isoleucine residue distal to the threonamide; a naturally occurring selective proteasome inhibitor with anti-inflammatory activity.


name: COIA1_HUMAN Collagen alpha-1(XVIII) chain (sprot)

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


name: SYCC_HUMAN Cysteine--tRNA ligase, cytoplasmic (sprot)

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


name: CYREN_HUMAN Cell cycle regulator of non-homologous end joining (sprot)

description: A modulator of retrovirus infection that is encoded in the genome of human.


name: SYTL5_HUMAN Synaptotagmin-like protein 5 (sprot)

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


Myotonia with warm-up phenomenon

description: Myotonia that occurs after a period of rest and decreases with continuing exercise.


developmental coordination disorder

description: A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.


name: ZN398_HUMAN Zinc finger protein 398 (sprot)

description: A zinc finger protein 398 that is encoded in the genome of human.


name: POC5_HUMAN Centrosomal protein POC5 (sprot)

description: A centrosomal protein POC5 that is encoded in the genome of human.


abdominal cystic lymphangioma

description: Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..


name: CART_HUMAN Cocaine- and amphetamine-regulated transcript protein (sprot)

description: A cocaine- and amphetamine-regulated transcript protein that is encoded in the genome of human.


LIPB2_HUMAN Liprin-beta-2 (sprot)

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


ANTHRAFLAVICACID

A  dihydroxyanthraquinone that is anthracene substituted by hydroxy groups at C-3 and C-7 and oxo groups at C-9 and C-10.


F193B_HUMAN Protein FAM193B (sprot)

A protein FAM193B that is encoded in the genome of human.


name: JKIP3_HUMAN Janus kinase and microtubule-interacting protein 3 (sprot)

description: A Janus kinase and microtubule-interacting protein 3 that is encoded in the genome of human.


ACTH-independent Cushing syndrome

description: Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).


marinobufagenin

A cardiotonic steroid secreted by the toad Bufo rubescens and other related species such as Bufo marinus. An endogenous Na/K-ATPase inhibitor, it is a vasoconstrictor with effects similar to digitalis.


benign neoplasm of skin

description: A benign neoplasm that involves the zone of skin.


adult lymphoma

description: A lymphoma that occurs in an adult.


name: MMP21_HUMAN Matrix metalloproteinase-21 (sprot)

description: A matrix metalloproteinase-21 that is encoded in the genome of human.


arterial tortuosity syndrome

description: Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.


CYLC1_HUMAN Cylicin-1 (sprot)

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


9-hydroxystearic acid

A hydroxyoctadecanoic acid that is octadecanoic acid (stearic acid) which has been substituted by a hydroxy group at position 9.


space motion sickness

description: Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)


cold-induced sweating syndrome

description: Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.


name: PNISR_HUMAN Arginine/serine-rich protein PNISR (sprot)

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


SPART_HUMAN Spartin (sprot)

A spartin that is encoded in the genome of human.


malignant superior sulcus neoplasm

description: A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.


Sydenham chorea

description: A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.


name: NU3M_HUMAN NADH-ubiquinone oxidoreductase chain 3 (sprot)

description: An NADH-ubiquinone oxidoreductase chain 3 that is encoded in the genome of human.


contagious pustular dermatitis

description: An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.


Shoulder dystocia

description: Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.


name: NOP56_HUMAN Nucleolar protein 56 (sprot)

description: A nucleolar protein 56 that is encoded in the genome of human.


amyotrophic lateral sclerosis type 12

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


name: ABR_HUMAN Active breakpoint cluster region-related protein (sprot)

description: An active breakpoint cluster region-related protein that is encoded in the genome of human.


severe hypophosphatasia

description: Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.


name: CXB5_HUMAN Gap junction beta-5 protein (sprot)

description: A gap junction beta-5 protein that is encoded in the genome of human.


DECUSSATIN

A member of the class of  xanthones that is xanthone substituted by a hydroxy group at position 1 and methoxy groups at positions 1, 2 and 6. It has been isolated from Centaurium erythraea and Gentiana verna.


name: MISP3_HUMAN Uncharacterized protein MISP3 (sprot)

description: A protein that is a translation product of the MISP3 gene in human.


name: PI5PA_HUMAN Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (sprot)

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


name: benign childhood occipital epilepsy, Panayiotopoulos type

description: A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.


S1A7A_HUMAN Protein S100-A7A (sprot)

A protein S100-A7A that is encoded in the genome of human.


lorglumide sodium

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


name: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

description: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.


sesquiterpene

A C15 terpene.


ichthyosis vulgaris

description: The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.


name: hypogonadotropic hypogonadism 24 without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.


TMOD4_HUMAN Tropomodulin-4 (sprot)

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


perfluorohexanoic acid

A monocarboxylic acid that is perfluorinated hexanoic acid.


DEXTROMETHORPHAN HYDROBROMIDE

The hydrobromide and monohydrate of the antitussive drug dextromethorphan.


resistant hypertension

description: A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatment with 3 or more antihypertensive drugs including diuretics are ineffective.


apraclonidine

An imidazoline that is 2-amino 4,5-dihydro-1H-imidazoline in which one of the exocyclic amino hydrogens has been replaced by a 4-amino-2,6-dichlorophenyl group.


name: ZNF71_HUMAN Endothelial zinc finger protein induced by tumor necrosis factor alpha (sprot)

description: An endothelial zinc finger protein induced by tumor necrosis factor alpha that is encoded in the genome of human.


name: RFFL_HUMAN E3 ubiquitin-protein ligase rififylin (sprot)

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


ecgonine methyl ester

The O-debenzoyl analogue of cocaine.


COCH_HUMAN Cochlin (sprot)

A cochlin that is encoded in the genome of human.


LITHOGLYCOCHOLATE

The glycine conjugate of lithocholic acid.


thyroid sarcoma

description: A malignant soft tissue neoplasm primarily involving the thyroid gland.


kievitone

A hydroxyisoflavanone that is isoflavanone with hydroxy substituents at positions 5, 7, 2' and 4' and a prenyl group at position 8.


patent blue V

An iminium ion that is a dark bluish synthetic dye used as a food colouring agent


name: TRUB1_HUMAN Pseudouridylate synthase TRUB1 (sprot)

description: A pseudouridylate synthase TRUB1 that is encoded in the genome of human.


OXDA_HUMAN D-amino-acid oxidase (sprot)

A D-amino-acid oxidase that is encoded in the genome of human.


2-caffeoylisocitric acid

The 2-caffeoyl derivative of isocitric acid.


name: PLK5_HUMAN Inactive serine/threonine-protein kinase PLK5 (sprot)

description: An inactive serine/threonine-protein kinase PLK5 that is encoded in the genome of human.


name: EFMT3_HUMAN EEF1A lysine methyltransferase 3 (sprot)

description: An EEF1A lysine methyltransferase 3 that is encoded in the genome of human.


name: IF44L_HUMAN Interferon-induced protein 44-like (sprot)

description: An interferon-induced protein 44-like that is encoded in the genome of human.


SDK1_HUMAN Protein sidekick-1 (sprot)

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


name: PCDG4_HUMAN Protocadherin gamma-A4 (sprot)

description: A protocadherin gamma-A4 that is encoded in the genome of human.


wedelolactone

A member of the class of coumestans that is coumestan with hydroxy substituents as positions 1, 8 and 9 and a methoxy substituent at position 3.


keratinizing squamous cell carcinoma

description: Squamous cell carcinomas with morphologically prominent production of keratin.


beta-damascenone

A cyclic monoterpene ketone that is 2,6,6-trimethylcyclohexa-1,3-diene substituted at position 1 by a crotonoyl group.


pontocerebellar hypoplasia type 6

description: Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.


A macrolide that is the 7-oxo derivative of zeaenol (the 5Z stereoisomer). Isolated from Fungi, it exhibits cytotoxic, antibacterial and inhibitory activity against NF-kappaB.


name: HABP4_HUMAN Intracellular hyaluronan-binding protein 4 (sprot)

description: An intracellular hyaluronan-binding protein 4 that is encoded in the genome of human.


supranuclear palsy, progressive, 1

description: Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.


name: ENTR1_HUMAN Endosome-associated-trafficking regulator 1 (sprot)

description: An endosome-associated-trafficking regulator 1 that is encoded in the genome of human.


name: STOX2_HUMAN Storkhead-box protein 2 (sprot)

description: A storkhead-box protein 2 that is encoded in the genome of human.


Angina pectoris

description: Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.


name: ANR44_HUMAN Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B (sprot)

description: A serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B that is encoded in the genome of human.


name: MED30_HUMAN Mediator of RNA polymerase II transcription subunit 30 (sprot)

description: A mediator of RNA polymerase II transcription subunit 30 that is encoded in the genome of human.


ursodeoxycholate

A bile acid anion that is the conjugate base of ursodeoxycholic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.


atrial septal aneurysm

description: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.


name: TPGS1_HUMAN Tubulin polyglutamylase complex subunit 1 (sprot)

description: A tubulin polyglutamylase complex subunit 1 that is encoded in the genome of human.


name: PROX2_HUMAN Prospero homeobox protein 2 (sprot)

description: A prospero homeobox protein 2 that is encoded in the genome of human.


name: TM165_HUMAN Putative divalent cation/proton antiporter TMEM165 (sprot)

description: A putative divalent cation/proton antiporter TMEM165 that is encoded in the genome of human.


D-glyceraldehyde

The D-enantiomer of glyceraldehyde.


subcorneal pustular dermatosis

description: A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.


constipation disorder

description: Irregular and infrequent or difficult evacuation of the bowels.


name: IFT46_HUMAN Intraflagellar transport protein 46 homolog (sprot)

description: An intraflagellar transport protein 46 homolog that is encoded in the genome of human.


name: OTC_HUMAN Ornithine transcarbamylase, mitochondrial (sprot)

description: An ornithine transcarbamylase, mitochondrial that is encoded in the genome of human.


name: SPICE_HUMAN Spindle and centriole-associated protein 1 (sprot)

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


pyridoxamine hydrochloride

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


restrictive dermopathy

description: A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.


name: PI42A_HUMAN Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha (sprot)

description: A phosphatidylinositol 5-phosphate 4-kinase type-2 alpha that is encoded in the genome of human.


acatalasia

description: A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.


A bromoindole that is 1H-indole substituted by 2-(trimethylazaniumyl)ethenyl and bromo groups at positions 3 and 6, respectively. It is isolated from the marine sponge Geodia barretti.


Langerhans cell histiocytosis

description: Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.


GLIOTOXIN

A pyrazinoindole with a disulfide bridge spanning a dioxo-substituted pyrazine ring; mycotoxin produced by several species of fungi.


name: C2C4C_HUMAN C2 calcium-dependent domain-containing protein 4C (sprot)

description: A C2 calcium-dependent domain-containing protein 4C that is encoded in the genome of human.


name: ZCHC9_HUMAN Zinc finger CCHC domain-containing protein 9 (sprot)

description: A zinc finger CCHC domain-containing protein 9 that is encoded in the genome of human.


trimethobenzamide

The amide obtained by formal condensation of 3,4,5-trihydroxybenzoic acid with 4-[2-(N,N-dimethylamino)ethoxy]benzylamine. It is used to prevent nausea and vomitting in humans.


DIHYDROCAFFEIC ACID

A monocarboxylic acid that is 3-phenylpropionic acid substituted by hydroxy groups at positions 3 and 4. Also known as dihydrocaffeic acid, it is a metabolite of caffeic acid and exhibits antioxidant activity.


name: GT252_HUMAN Procollagen galactosyltransferase 2 (sprot)

description: A procollagen galactosyltransferase 2 that is encoded in the genome of human.


name: VATF_HUMAN V-type proton ATPase subunit F (sprot)

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


name: RS15_HUMAN Small ribosomal subunit protein uS19 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS19 that is encoded in the genome of human.


flavaspidic acid AB

A polyphenol that is a phloroglucinol derivative isolated from the rhizomes of Dryopteris crassirhizoma and has been shown to exhibit radical scavenging and antibacterial activity.


autoimmune retinopathy

description: An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.


D-glutamic acid

An optically active form of glutamic acid having D-configuration.


name: CAH11_HUMAN Carbonic anhydrase-related protein 11 (sprot)

description: A carbonic anhydrase-related protein 11 that is encoded in the genome of human.


CAN11_HUMAN Calpain-11 (sprot)

A calpain-11 that is encoded in the genome of human.


non-functioning pituitary adenoma

description: A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.


inflammatory bowel disease 21

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.


name: RASF8_HUMAN Ras association domain-containing protein 8 (sprot)

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


name: AP3D1_HUMAN AP-3 complex subunit delta-1 (sprot)

description: An AP-3 complex subunit delta-1 that is encoded in the genome of human.


AMZ1_HUMAN Archaemetzincin-1 (sprot)

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


name: SYTL3_HUMAN Synaptotagmin-like protein 3 (sprot)

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


Cerebellar hemorrhage

description: Hemorrhage into the parenchyma of the cerebellum.


1,6-hexamethylene diisocyanate

A diisocyanate compound with the two isocyanates linked by a hexane-1,6-diyl group.


name: GP135_HUMAN G-protein coupled receptor 135 (sprot)

description: A G-protein coupled receptor 135 that is encoded in the genome of human.


DB126_HUMAN Beta-defensin 126 (sprot)

A beta-defensin 126 that is encoded in the genome of human.


Upper eyelid edema

description: Edema in the region of the upper eyelid.


name: S4A8_HUMAN Electroneutral sodium bicarbonate exchanger 1 (sprot)

description: An electroneutral sodium bicarbonate exchanger 1 that is encoded in the genome of human.


Invasive pulmonary aspergillosis

description: Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.


name: neurodegeneration with brain iron accumulation 2A

description: A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.


essential fructosuria

description: Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.


name: DAAF4_HUMAN Dynein axonemal assembly factor 4 (sprot)

description: A dynein axonemal assembly factor 4 that is encoded in the genome of human.


cocaine dependence

description: A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.


CAD24_HUMAN Cadherin-24 (sprot)

A cadherin-24 that is encoded in the genome of human.


PONATINIB HYDROCHLORIDE

The hydrochloride salt of ponatinib. It is a potent pan inhibitor of tyrosine kinases, active in all single resistance ABL kinase mutations including the T315l mutation. It is approved for the treatment of chronic myeloid leukemia.


name: CLCN6_HUMAN H(+)/Cl(-) exchange transporter 6 (sprot)

description: A chloride channel protein 6 that is encoded in the genome of human.


name: DYT2B_HUMAN Dynein light chain Tctex-type protein 2B (sprot)

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


AX2R_HUMAN Annexin-2 receptor (sprot)

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


The acetate ester of benzyl alcohol.


ovarian transitional cell carcinoma

description: A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.


BROMOETHANE

A bromoalkane that is ethane carrying a bromo substituent. It is an alkylating agent used as a chemical intermediate in various organic syntheses.


name: ADNP_HUMAN Activity-dependent neuroprotector homeobox protein (sprot)

description: An activity-dependent neuroprotector homeobox protein that is encoded in the genome of human.


cloacogenic carcinoma

description: An anal carcinoma arising from the transitional zone of the anal canal.


(-)-methadone

A 6-(dimethylamino)-4,4-diphenylheptan-3-one that has (R)-configuration. It is the active enantiomer of methadone and its hydrochloride salt is used to treat adults who are addicted to drugs such as heroin and morphine.


candidiasis, invasive

description: A fungal infection by any of the Candida species in a sterile body compartment.


Parakeratosis

description: Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.


name: GCC2_HUMAN GRIP and coiled-coil domain-containing protein 2 (sprot)

description: A GRIP and coiled-coil domain-containing protein 2 that is encoded in the genome of human.


METHAPYRILENE HYDROCHLORIDE

A hydrochloride that is the monohydrochloride salt of methapyrilene.


vascular cancer

description: A malignant neoplasm arising from the blood vessels.


name: WDR55_HUMAN WD repeat-containing protein 55 (sprot)

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


Hypoplastic labia majora

description: Undergrowth of the outer labia.


hereditary nephritis

description: A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.


NUP58_HUMAN Nucleoporin p58/p45 (sprot)

A nucleoporin p58/p45 that is encoded in the genome of human.


name: ZC4H2_HUMAN Zinc finger C4H2 domain-containing protein (sprot)

description: A zinc finger C4H2 domain-containing protein that is encoded in the genome of human.


name: PRIC4_HUMAN Prickle-like protein 4 (sprot)

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


name: ATP5I_HUMAN ATP synthase subunit e, mitochondrial (sprot)

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


name: I2BP1_HUMAN Interferon regulatory factor 2-binding protein 1 (sprot)

description: An interferon regulatory factor 2-binding protein 1 that is encoded in the genome of human.


myofibrillar myopathy 6

description: Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.


Holt-Oram syndrome

description: Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.


Acanthocytosis

description: Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


limonene

A monoterpene that is cyclohex-1-ene substituted by a methyl group at position 1 and a prop-1-en-2-yl group at position 4 respectively.


name: CC116_HUMAN Coiled-coil domain-containing protein 116 (sprot)

description: A coiled-coil domain-containing protein 116 that is encoded in the genome of human.


SELENON-related myopathy

description: Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.


dextrocardia

description: A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.


name: GBRG1_HUMAN Gamma-aminobutyric acid receptor subunit gamma-1 (sprot)

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


A pyrimidine obtained by formal addition of hydrogen across the 5,6-position of uracil.


name: PDE8A_HUMAN High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A (sprot)

description: A high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A that is encoded in the genome of human.


Opportunistic infection

description: An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


name: DDX31_HUMAN ATP-dependent DNA helicase DDX31 (sprot)

description: A probable ATP-dependent RNA helicase DDX31 that is encoded in the genome of human.


CSKI2_HUMAN Caskin-2 (sprot)

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


name: S2529_HUMAN Mitochondrial basic amino acids transporter (sprot)

description: A mitochondrial basic amino acids transporter that is encoded in the genome of human.


Thickened skin

description: Laminar thickening of skin.


Visceromegaly

description: Abnormal increased size of the viscera of the abdomen.


name: BPIB3_HUMAN BPI fold-containing family B member 3 (sprot)

description: A BPI fold-containing family B member 3 that is encoded in the genome of human.


name: SAMD8_HUMAN Sphingomyelin synthase-related protein 1 (sprot)

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


name: ASA2B_HUMAN Putative inactive neutral ceramidase B (sprot)

description: A putative inactive neutral ceramidase B that is encoded in the genome of human.


TULIPALINE A

A butan-4-olide having a methylene group at the 3-position.


juvenile polyposis of infancy

description: Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.


glutaric acidemia type 3

description: Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.


name: SERC1_HUMAN Serine incorporator 1 (sprot)

description: A serine incorporator 1 that is encoded in the genome of human.


congenital coronary artery anomaly

description: Any structural abnormality of the coronary arteries.


name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

description: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


name: CTL5_HUMAN Choline transporter-like protein 5 (sprot)

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


diacylglycerol 30:0

A diglyceride in which the two acyl groups contain a total of 30 carbons and 0 double bonds.


Lipedema

description: Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.


name: OR2H2_HUMAN Olfactory receptor 2H2 (sprot)

description: An olfactory receptor 2H2 that is encoded in the genome of human.


name: GLRB_HUMAN Glycine receptor subunit beta (sprot)

description: A glycine receptor subunit beta that is encoded in the genome of human.


name: SC24A_HUMAN Protein transport protein Sec24A (sprot)

description: A protein transport protein Sec24A that is encoded in the genome of human.


Acroparesthesia

description: A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.


name: TB182_HUMAN 182 kDa tankyrase-1-binding protein (sprot)

description: A 182 kDa tankyrase-1-binding protein that is encoded in the genome of human.


name: MMAC_HUMAN Cyanocobalamin reductase / alkylcobalamin dealkylase (sprot)

description: A cyanocobalamin reductase / alkylcobalamin dealkylase that is encoded in the genome of human.


A simplest member of the class of chromene in which the heterocyclic pyran ring has a double bond between positions 3 and 4.


chronic conjunctivitis

description: Conjunctivitis that is persistent and long-standing.


name: UBFL1_HUMAN Upstream-binding factor 1-like protein 1 (sprot)

description: An upstream-binding factor 1-like protein 1 that is encoded in the genome of human.


name: ACPH_HUMAN Acylamino-acid-releasing enzyme (sprot)

description: An acylamino-acid-releasing enzyme that is encoded in the genome of human.


hepatobiliary neoplasm

description: A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.


ocular tuberculosis

description: Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.


name: epilepsy with generalized tonic-clonic seizures

description: A generalized tonic-clonic seizure.


Respiratory acidosis

description: Acidosis because of respiratory retention of carbon dioxide.


name: thiamine-responsive megaloblastic anemia syndrome

description: Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.


gamma-dodecalactone

A gamma-lactone that is oxolan-2-one substituted by an octyl group at position 5.


bromate salt

Any salt that has chlorate, [BrO3](-), as the anionic component.


name: TV23B_HUMAN Golgi apparatus membrane protein TVP23 homolog B (sprot)

description: A Golgi apparatus membrane protein TVP23 homolog B that is encoded in the genome of human.


Ovarian papillary adenocarcinoma

description: The presence of a papillary adenocarcinoma of the ovary.


name: CP4FN_HUMAN Ultra-long-chain fatty acid omega-hydroxylase (sprot)

description: An ultra-long-chain fatty acid omega-hydroxylase that is encoded in the genome of human.


name: ARGAL_HUMAN Rho guanine nucleotide exchange factor 10-like protein (sprot)

description: A Rho guanine nucleotide exchange factor 10-like protein that is encoded in the genome of human.


gastric hemangioma

description: A hemangioma arising from the stomach.


bambermycin

A glycophospholipid antibiotic compound with the lipid portion conjugated to a pentasaccharide fraction via a phosphate linkage.


name: OAT_HUMAN Ornithine aminotransferase, mitochondrial (sprot)

description: An ornithine aminotransferase, mitochondrial that is encoded in the genome of human.


name: EXOS6_HUMAN Exosome complex component MTR3 (sprot)

description: An exosome complex component MTR3 that is encoded in the genome of human.


PHENOBARBITAL SODIUM

A barbiturate that is the sodium salt of phenobarbital (barbituric acid substituted at C-5 by ethyl and phenyl groups).


name: UBXN6_HUMAN UBX domain-containing protein 6 (sprot)

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


multifocal choroiditis

description: Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.


name: EFR3B_HUMAN Protein EFR3 homolog B (sprot)

description: A protein EFR3 homolog B that is encoded in the genome of human.


name: ARPC4_HUMAN Actin-related protein 2/3 complex subunit 4 (sprot)

description: An actin-related protein 2/3 complex subunit 4 that is encoded in the genome of human.


beta-D-mannose

A D-mannopyranose in which the anomeric centre has beta configuration.


name: ZN710_HUMAN Zinc finger protein 710 (sprot)

description: A zinc finger protein 710 that is encoded in the genome of human.


Ocular pain

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


Herpesviridae infectious disease

description: Virus diseases caused by the herpesviridae.


small cell sarcoma

description: A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.


autoimmune hepatitis type 2

description: Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.


oral cavity neoplasm

description: A neoplasm (disease) that involves the oral cavity.


AMENTOFLAVONE

A biflavonoid that is obtained by oxidative coupling of two molecules of apigenin resulting in a bond between positions C-3 of the hydroxyphenyl ring and C-8 of the chromene ring.  A natural product found  particularly in Ginkgo biloba and Hypericum perforatum.


Tay-Sachs disease

description: GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.


P2Y11_HUMAN P2Y purinoceptor 11 (sprot)

A P2Y purinoceptor 11 that is encoded in the genome of human.


name: DIRA2_HUMAN GTP-binding protein Di-Ras2 (sprot)

description: A GTP-binding protein Di-Ras2 that is encoded in the genome of human.


CATF_HUMAN Cathepsin F (sprot)

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


septal myocardial infarction

description: A myocardial infarction (disease) that involves the cardiac septum.


Opportunistic fungal infection

description: An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Heart block

description: Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.


fibrosarcomatous osteosarcoma

description: A conventional osteosarcoma characterized by the presence of spindle shaped cells.


RCOR3_HUMAN REST corepressor 3 (sprot)

A REST corepressor 3 that is encoded in the genome of human.


Peripheral axonal degeneration

description: Progressive deterioration of peripheral axons.


enthesitis

description: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


name: TRDV2_HUMAN T cell receptor delta variable 2 (sprot)

description: A protein that is a translation product of the TRDV2 gene in human.


name: KLHL4_HUMAN Kelch-like protein 4 (sprot)

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


Carney-Stratakis syndrome

description: Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.


invasive hydatidiform mole

description: A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.


DUROQUINONE

A member of the class of 1,4-benzoquinones that is 1,4-benzoquinone in which all four hydrogens are substituted by methyl groups.


tumor of meninges

description: A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.


name: PLD4_HUMAN 5'-3' exonuclease PLD4 (sprot)

description: A 5'-3' exonuclease PLD4 that is encoded in the genome of human.


spleen cancer

description: A malignant neoplasm involving the spleen


holocarboxylase synthetase deficiency

description: A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.


name: TRNK1_HUMAN TPR and ankyrin repeat-containing protein 1 (sprot)

description: A lupus brain antigen 1 that is encoded in the genome of human.


name: DPH1_HUMAN 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 (sprot)

description: A 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 that is encoded in the genome of human.


tetradecanedioic acid

An alpha,omega-dicarboxylic acid that is tetradecane in which the methyl groups have been oxidised to the corresponding carboxylic acids.


name: PI42C_HUMAN Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma (sprot)

description: A phosphatidylinositol 5-phosphate 4-kinase type-2 gamma that is encoded in the genome of human.


hereditary gastric cancer

description: Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.


NAPHTHAZALIN

A naphthoquinone that is 1,4-naphthoquinone in which the hydrogens at positions 5 and 8 are replaced by hydroxy groups.


name: NCOA7_HUMAN Nuclear receptor coactivator 7 (sprot)

description: A nuclear receptor coactivator 7 that is encoded in the genome of human.


DDHD2_HUMAN Phospholipase DDHD2 (sprot)

A phospholipase DDHD2 that is encoded in the genome of human.


ZERUMBONE

A sesquiterpenoid and cyclic ketone that is (1E,4E,8E)-alpha-humulene which is substituted by an oxo group at the carbon atom attached to two double bonds. It is obtained by steam distillation from a type of edible ginger, Zingiber zerumbet Smith,  grown particularly in southeast Asia.


pityriasis rubra pilaris

description: A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).


EST4A_HUMAN Carboxylesterase 4A (sprot)

A carboxylesterase 4A that is encoded in the genome of human.


name: PCDAA_HUMAN Protocadherin alpha-10 (sprot)

description: A protocadherin alpha-10 that is encoded in the genome of human.


Aspiration

description: Inspiration of a foreign object into the airway.


ZNT6_HUMAN Zinc transporter 6 (sprot)

A zinc transporter 6 that is encoded in the genome of human.


name: ZNRF1_HUMAN E3 ubiquitin-protein ligase ZNRF1 (sprot)

description: An E3 ubiquitin-protein ligase ZNRF1 that is encoded in the genome of human.


Onycholysis

description: Detachment of the nail from the nail bed.


name: R7BP_HUMAN Regulator of G-protein signaling 7-binding protein (sprot)

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


Increased serum zinc

description: An increased consentration of zinc in the blood.


name: GDPD1_HUMAN Lysophospholipase D GDPD1 (sprot)

description: A lysophospholipase D GDPD1 that is encoded in the genome of human.


Complete tracheal ring

description: Continuous or nearly continuous configuration of the cartilaginous tracheal ring.


name: PCDA3_HUMAN Protocadherin alpha-3 (sprot)

description: A protocadherin alpha-3 that is encoded in the genome of human.


perfluoroheptanoic acid

A fluoroalkanoic acid that is perfluorinated heptanoic acid.


bone marrow neoplasm

description: Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).


name: MPC1L_HUMAN Mitochondrial pyruvate carrier 1-like protein (sprot)

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


sex cord-stromal tumor

description: A neoplasm involving a sex cord.


name: SLIRP_HUMAN SRA stem-loop-interacting RNA-binding protein, mitochondrial (sprot)

description: An SRA stem-loop-interacting RNA-binding protein, mitochondrial that is encoded in the genome of human.


verrucous carcinoma

description: A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.


QUINOXALINE

A naphthyridine in which the nitrogens are at positions 1 and 4.


Portal inflammation

description: Infiltration of portal fields by inflammatory cells.


Hypoplastic aortic arch

description: Underdevelopment of the arch of aorta.


name: SNR40_HUMAN U5 small nuclear ribonucleoprotein 40 kDa protein (sprot)

description: A U5 small nuclear ribonucleoprotein 40 kDa protein that is encoded in the genome of human.


name: DDX55_HUMAN ATP-dependent RNA helicase DDX55 (sprot)

description: An ATP-dependent RNA helicase DDX55 that is encoded in the genome of human.


name: TPST2_HUMAN Protein-tyrosine sulfotransferase 2 (sprot)

description: A protein-tyrosine sulfotransferase 2 that is encoded in the genome of human.


name: GPR61_HUMAN G-protein coupled receptor 61 (sprot)

description: A G-protein coupled receptor 61 that is encoded in the genome of human.


IgG4-related disease

description: A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.


name: MYCPP_HUMAN C-myc promoter-binding protein (sprot)

description: A C-myc promoter-binding protein that is encoded in the genome of human.


description: A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.


name: S39AB_HUMAN Zinc transporter ZIP11 (sprot)

description: A zinc transporter ZIP11 that is encoded in the genome of human.


name: LCE3C_HUMAN Late cornified envelope protein 3C (sprot)

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


Areflexia

description: Absence of neurologic reflexes such as the knee-jerk reaction.


name: TAF10_HUMAN Transcription initiation factor TFIID subunit 10 (sprot)

description: A transcription initiation factor TFIID subunit 10 that is encoded in the genome of human.


name: MX2_HUMAN Interferon-induced GTP-binding protein Mx2 (sprot)

description: An interferon-induced GTP-binding protein Mx2 that is encoded in the genome of human.


non-compaction cardiomyopathy

description: Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


name: ZDHC6_HUMAN Palmitoyltransferase ZDHHC6 (sprot)

description: A palmitoyltransferase ZDHHC6 that is encoded in the genome of human.


name: NDK5_HUMAN Nucleoside diphosphate kinase homolog 5 (sprot)

description: A nucleoside diphosphate kinase homolog 5 that is encoded in the genome of human.


rhodotorulic acid

A member of the class of 2,5-diketopiperazines obtained by cyclodimerisation of N(5)-acetyl-N(5)-hydroxy-L-ornithine.


name: SFTA3_HUMAN Surfactant-associated protein 3 (sprot)

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


Progressive spasticity

description: Spasticity that increases in degree with time.


name: PTN23_HUMAN Tyrosine-protein phosphatase non-receptor type 23 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 23 that is encoded in the genome of human.


GLYG2_HUMAN Glycogenin-2 (sprot)

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


pleural cancer

description: A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.


Minamata disease

description: A neurological syndrome caused by severe mercury poisoning.


name: TJB27_HUMAN T cell receptor beta joining 2-7 (sprot)

description: A protein that is a translation product of the TRBJ2-7 gene in human.


Periungual erythema

description: Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.


name: MTMR8_HUMAN Myotubularin-related protein 8 (sprot)

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


STRN4_HUMAN Striatin-4 (sprot)

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


PHENYLALANINE AMIDE

An amino acid amide derived from L-phenylalanine.


4-vinylcyclohexene dioxide

The diepoxide of 4-vinylcyclohexene.


X-linked chondrodysplasia punctata 2

description: A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


urethra squamous cell carcinoma

description: A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.


name: DAZ1_HUMAN Deleted in azoospermia protein 1 (sprot)

description: A deleted in azoospermia protein 1 that is encoded in the genome of human.


name: DAZ2_HUMAN Deleted in azoospermia protein 2 (sprot)

description: A deleted in azoospermia protein 2 that is encoded in the genome of human.


name: DMRTB_HUMAN Doublesex- and mab-3-related transcription factor B1 (sprot)

description: A doublesex- and mab-3-related transcription factor B1 that is encoded in the genome of human.


description: An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.


GINKGETIN

A biflavonoid that is the  7,4'-dimethyl ether derivative of amentoflavone. Isolated from Ginkgo biloba and Dioon, it exhibits anti-HSV-1, antineoplastic and inhibitory activities towards arachidonate 5-lipoxygenase and cyclooxygenase 2.


MTLN_HUMAN Mitoregulin (sprot)

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


pivampicillin

A penicillanic acid ester that is the pivaloyloxymethyl ester of ampicillin. It is a prodrug of ampicillin.


cytochalasin D

An organic heterotricyclic compound that is a mycotoxin produced by Helminthosporium and other moulds which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis.


Fetal anemia

description: Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.


name: CTIF_HUMAN CBP80/20-dependent translation initiation factor (sprot)

description: A CBP80/20-dependent translation initiation factor that is encoded in the genome of human.


thanatophoric dysplasia

description: Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.


name: DCST1_HUMAN E3 ubiquitin-protein ligase DCST1 (sprot)

description: An E3 ubiquitin-protein ligase DCST1 that is encoded in the genome of human.


QUESTIOMYCIN B

The aminophenol which has the single amino substituent located ortho to the phenolic -OH group.


name: HDHD3_HUMAN Haloacid dehalogenase-like hydrolase domain-containing protein 3 (sprot)

description: A haloacid dehalogenase-like hydrolase domain-containing protein 3 that is encoded in the genome of human.


(PHENYLSULFONYL)BENZENE

A sulfone compound having two S-phenyl substituents. It has been found in plants like Gnidia glauca and Dioscorea bulbifera.


NICOTINALDEHYDE

A pyridinecarbaldehyde that is pyridine substituted by a formyl group at position 3.


vestibular ataxia

description: Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.


rosmarinate

The conjugate base of rosmarinic acid; major species at pH 7.3.


prostate leiomyosarcoma

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


focal hand dystonia

description: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.


N,N-dimethylaniline

A tertiary amine that is aniline in which the amino hydrogens are replaced by two methyl groups.


name: COG1_HUMAN Conserved oligomeric Golgi complex subunit 1 (sprot)

description: A conserved oligomeric Golgi complex subunit 1 that is encoded in the genome of human.


name: TMF1_HUMAN TATA element modulatory factor (sprot)

description: A TATA element modulatory factor that is encoded in the genome of human.


desmoplastic infantile astrocytoma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


name: neonatal severe primary hyperparathyroidism

description: Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


Hypermagnesiuria

description: An increased concentration of magnesium the urine.


pilonidal sinus

description: A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


PHTF1_HUMAN Protein PHTF1 (sprot)

A protein PHTF1 that is encoded in the genome of human.


Recurrent aspiration pneumonia

description: Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.


name: EI2BA_HUMAN Translation initiation factor eIF2B subunit alpha (sprot)

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


name: AP1M1_HUMAN AP-1 complex subunit mu-1 (sprot)

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


name: LAS1L_HUMAN Ribosomal biogenesis protein LAS1L (sprot)

description: A LAS1-like protein that is encoded in the genome of human.


hypolipoproteinemia

description: Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).


name: LIPT_HUMAN Lipoyl amidotransferase LIPT1, mitochondrial (sprot)

description: A lipoyl amidotransferase LIPT1, mitochondrial that is encoded in the genome of human.


name: ZCPW2_HUMAN Zinc finger CW-type PWWP domain protein 2 (sprot)

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


cytochalasin B

An organic heterotricyclic compound, that is a mycotoxin which is cell permeable an an inhibitor of cytoplasmic division by blocking the formation of contractile microfilaments.


papillary craniopharyngioma

description: A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)


name: SYHM_HUMAN Histidine--tRNA ligase, mitochondrial (sprot)

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


name: UB2V2_HUMAN Ubiquitin-conjugating enzyme E2 variant 2 (sprot)

description: A ubiquitin-conjugating enzyme E2 variant 2 that is encoded in the genome of human.


name: FIGL1_HUMAN Fidgetin-like protein 1 (sprot)

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


name: CDK17_HUMAN Cyclin-dependent kinase 17 (sprot)

description: A cyclin-dependent kinase 17 that is encoded in the genome of human.


fructose-1,6-bisphosphatase deficiency

description: Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.


autosomal dominant osteopetrosis 2

description: A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).


name: PABP5_HUMAN Polyadenylate-binding protein 5 (sprot)

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


name: CD79B_HUMAN B-cell antigen receptor complex-associated protein beta chain (sprot)

description: A B-cell antigen receptor complex-associated protein beta chain that is encoded in the genome of human.


name: ZFY16_HUMAN Zinc finger FYVE domain-containing protein 16 (sprot)

description: A zinc finger FYVE domain-containing protein 16 that is encoded in the genome of human.


calcium metabolic disease

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


name: ZBT14_HUMAN Zinc finger and BTB domain-containing protein 14 (sprot)

description: A zinc finger and BTB domain-containing protein 14 that is encoded in the genome of human.


name: P2R3C_HUMAN Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma (sprot)

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


name: ZDH14_HUMAN Palmitoyltransferase ZDHHC14 (sprot)

description: A palmitoyltransferase ZDHHC14 that is encoded in the genome of human.


phenmetrazine

A member of the class of morpholines that is morpholine substituted with a phenyl group at position 2 and a methyl group at position 3.


DEPP1_HUMAN Protein DEPP1 (sprot)

A protein DEPP1 that is encoded in the genome of human.


name: TLL2_HUMAN Tolloid-like protein 2 (sprot)

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


H15_HUMAN Histone H1.5 (sprot)

A histone H1.5 that is encoded in the genome of human.


name: 5HT1D_HUMAN 5-hydroxytryptamine receptor 1D (sprot)

description: A 5-hydroxytryptamine receptor 1D that is encoded in the genome of human.


name: BCAM_HUMAN Basal cell adhesion molecule (sprot)

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


Tongue atrophy

description: Wasting of the tongue.


frozen shoulder

description: A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.


name: LACC1_HUMAN Purine nucleoside phosphorylase LACC1 (sprot)

description: A purine nucleoside phosphorylase LACC1 that is encoded in the genome of human.


Papillary renal cell carcinoma type 2

description: A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.


yttrium chloride

The inorganic chloride salt of yttrium(III)


name: SSRD_HUMAN Translocon-associated protein subunit delta (sprot)

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


name: OSTM1_HUMAN Osteopetrosis-associated transmembrane protein 1 (sprot)

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


SPS2L_HUMAN SPATS2-like protein (sprot)

A SPATS2-like protein that is encoded in the genome of human.


neonatal leukemia

description: Leukemia that occurs during the neonatal period.


oral candidiasis

description: Infection of the mucosal lining of the mouth with the fungus Candida albicans.


name: central nervous system primitive neuroectodermal neoplasm

description: A neuroectodermal tumor that involves the central nervous system.


name: RFX3_HUMAN Transcription factor RFX3 (sprot)

description: A transcription factor RFX3 that is encoded in the genome of human.


name: K22O_HUMAN Keratin, type II cytoskeletal 2 oral (sprot)

description: A keratin, type II cytoskeletal 2 oral that is encoded in the genome of human.


adenosquamous prostate carcinoma

description: An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.


name: ANKF1_HUMAN Ankyrin repeat and fibronectin type-III domain-containing protein 1 (sprot)

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


myelomeningocele

description: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.


CARBAMAZEPINE EPOXIDE

An  epoxide and metabolite of carbamazepine.


cholesteatoma of middle ear

description: A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.


name: CL3L1_HUMAN C-C motif chemokine 3-like 1 (sprot)

description: A C-C motif chemokine 3-like 1 that is encoded in the genome of human.


chronic polyneuropathy

description: Polyneuropathy that is persistent or long-standing in nature.


temafloxacin

A racemate comprising equimolar amounts of (R)- and (S)-temafloxacin. Both enantiomers both exhibit similar pharmacological profiles. Temafloxacin was briefly used (either as the free base or as the hydrochloride salt) as an antibacterial drug but was withdrawn worldwide in 1992 following reports of serious side effects, including severe hypoglycaemia, haemolytic anaemia, liver and kidney dysfunction, anaphylaxis, and death.


SHORT syndrome

description: SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.


XPOT_HUMAN Exportin-T (sprot)

An exportin-T that is encoded in the genome of human.


name: familial isolated deficiency of vitamin E

description: Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.


Neutrophilic urticarial dermatosis

description: A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.


FMN1_HUMAN Formin-1 (sprot)

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


name: VISTA_HUMAN V-type immunoglobulin domain-containing suppressor of T-cell activation (sprot)

description: A V-type immunoglobulin domain-containing suppressor of T-cell activation that is encoded in the genome of human.


BEX5_HUMAN Protein BEX5 (sprot)

A protein BEX5 that is encoded in the genome of human.


name: ILDR2_HUMAN Immunoglobulin-like domain-containing receptor 2 (sprot)

description: An immunoglobulin-like domain-containing receptor 2 that is encoded in the genome of human.


name: SWT1_HUMAN Transcriptional protein SWT1 (sprot)

description: A transcriptional protein SWT1 that is encoded in the genome of human.


thoracic outlet syndrome

description: A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.


name: WDFY2_HUMAN WD repeat and FYVE domain-containing protein 2 (sprot)

description: A WD repeat and FYVE domain-containing protein 2 that is encoded in the genome of human.


monophasic synovial sarcoma

description: A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.


OVCH2_HUMAN Ovochymase-2 (sprot)

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


A member of the class of  phenols that is phenol substituted by methyl groups at positions 3 and 4.


cystoid macular retinal degeneration

description: A form of macular degeneration characterized by the presence of multiple cysts in the macula.


3-aminoisobutyric acid

A beta-amino-acid that is isobutyric acid in which one of the methyl hydrogens is substituted by an amino group.


TIOTROPIUM BROMIDE

A hydrate that is the monohydrate form of tiotropium bromide. Used for maintenance treatment of airflow obstruction in patients with chronic obstructive pulmonary disease.


macroglossia

description: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)


viral pericarditis

description: Pericarditis that is caused by an infection with a viral agent.


dihydrosphingosine 1-phosphate

A sphingoid 1-phosphate that is the monophosphorylated derivative of  sphinganine.


SAFROLE

A member of the class of benzodioxoles that is 1,3-benzodioxole which is substituted by an allyl group at position 5. It is found in several plants, including black pepper, cinnamon and nutmeg, and is present in several essential oils, notably that of sassafras. It has insecticidal properties and has been used as a topical antiseptic. Although not thought to pose a significant carcinogenic risk to humans, findings of weak carcinogenicity in rats have resulted in the banning of its (previously widespread) use in perfumes and soaps, and as a food additive.


name: SPEF1_HUMAN Sperm flagellar protein 1 (sprot)

description: A sperm flagellar protein 1 that is encoded in the genome of human.


name: MYO19_HUMAN Unconventional myosin-XIX (sprot)

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


tetratriacontane

A long-chain alkane consisting of an unbranched chain of 34 carbon atoms.


colorectal squamous cell carcinoma

description: A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.


classic pulmonary blastoma

description: A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.


SKI_HUMAN Ski oncogene (sprot)

A ski oncogene that is encoded in the genome of human.


N-nonyldeoxynojirimycin

A hydroxypiperidine that is deoxynojirimycin (duvoglustat) in which the amino hydrogen is replaced by a nonyl group.


name: ZSWM3_HUMAN Zinc finger SWIM domain-containing protein 3 (sprot)

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


Mandibular osteomyelitis

description: Osteomyelitis of the lower jaw.


papillary transitional cell carcinoma

description: A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.


Right ventricular cardiomyopathy

description: Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


Bradyphrenia

description: Abnormal slowness of thought processes.


name: DC2L1_HUMAN Cytoplasmic dynein 2 light intermediate chain 1 (sprot)

description: A cytoplasmic dynein 2 light intermediate chain 1 that is encoded in the genome of human.


[Met]enkephalin

A peptide zwitterion obtained by transfer of a proton from the carboxy to the amino terminus of Met-enkephalin. Major species at pH 7.3.


name: ADAD2_HUMAN Adenosine deaminase domain-containing protein 2 (sprot)

description: An adenosine deaminase domain-containing protein 2 that is encoded in the genome of human.


name: IPP2_HUMAN Protein phosphatase inhibitor 2 (sprot)

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


SODIUM BROMIDE

An inorganic sodium salt having bromide as the counterion.


name: MIEAP_HUMAN Mitochondria-eating protein (sprot)

description: A spermatogenesis-associated protein 18 that is encoded in the genome of human.


Kyphoscoliosis

description: An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.


name: DEN1B_HUMAN DENN domain-containing protein 1B (sprot)

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


2-hydroxymyristic acid

A  long-chain fatty acid that is a derivative of myristic acid having a hydroxy substituent at C-2.


name: VCX1_HUMAN Variable charge X-linked protein 1 (sprot)

description: A variable charge X-linked protein 1 that is encoded in the genome of human.


name: TVB19_HUMAN T cell receptor beta variable 19 (sprot)

description: A protein that is a translation product of the TRBV19 gene in human.


name: RHBT3_HUMAN Rho-related BTB domain-containing protein 3 (sprot)

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


A 18-hydroxy steroid that is corticosterone substituted by a hydroxy group at position 18.


name: SYDE2_HUMAN Rho GTPase-activating protein SYDE2 (sprot)

description: A Rho GTPase-activating protein SYDE2 that is encoded in the genome of human.


florbetapir

An aromatic ether consisting of a pyridine ring substituted at position 2 by a 2-{2-[2-((18)F)fluoroethoxy]ethoxy}ethoxy group and at position 5 and a 2-(4-methylaminophenyl)vinyl group. A positron emission tomography imaging ligand for the detection of amyloid aggregation associated with Alzheimer disease.


name: anterior cutaneous nerve entrapment syndrome

description: Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.


pramocaine

A member of the class of morpholines that is morpholine substituted at the nitrogen atom by a 3-(4-butoxyphenoxy)propyl group.


histiocytoma, Angiomatoid fibrous

description: A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.


amniotic band syndrome

description: A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


name: EFC4A_HUMAN EF-hand calcium-binding domain-containing protein 4A (sprot)

description: An EF-hand calcium-binding domain-containing protein 4A that is encoded in the genome of human.


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


name: WDR83_HUMAN WD repeat domain-containing protein 83 (sprot)

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


name: MTMR9_HUMAN Myotubularin-related protein 9 (sprot)

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


Crigler-Najjar syndrome

description: Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.


name: RPC9_HUMAN DNA-directed RNA polymerase III subunit RPC9 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC9 that is encoded in the genome of human.


Generalized hypopigmentation of hair

description: Reduced pigmentation of hair diffusely.


TSN17_HUMAN Tetraspanin-17 (sprot)

A tetraspanin-17 that is encoded in the genome of human.


colforsin daropate hydrochloride

The hydrochloride salt of colforsin daropate. It is a drug used for the treatment of acute heart failure. It directly stimulates adenylate cyclase and produces positive inotropic and vasodilator effects accompanied by the increase in cellular cAMP.


acalculous cholecystitis

description: Inflammation of the gallbladder in the absence of gallstones.