leukocyte adhesion deficiency 1

description: Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.


endometrial polyp

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

description: A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.


name: primary cutaneous follicle center lymphoma

description: A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.


Limb undergrowth

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

description: Limb shortening because of underdevelopment of one or more bones of the extremities.


TH-deficient dopa-responsive dystonia

description: Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.


galactokinase deficiency

description: Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.


name: TRGC1_HUMAN T cell receptor gamma constant 1 (sprot)


canine rhabdomyosarcoma

description: A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.


ETIOCHOLANOLONE

An androstanoid that is 5beta-androstane substituted by an alpha-hydroxy group at position 3 and an oxo group at position 17. It is a metabolite of testosterone in mammals.


name: Z385B_HUMAN Zinc finger protein 385B (sprot)

description: A zinc finger protein 385B that is encoded in the genome of human.


DNA repair disease

description: A disease that has its basis in the disruption of DNA repair.


Shortened sleep phase

description: A tendency to sleep fewer hours than usual while feeling well-rested.


FAN_HUMAN Protein FAN (sprot)

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


name: RNF39_HUMAN RING finger protein 39 (sprot)

description: A RING finger protein 39 that is encoded in the genome of human.


SNX29_HUMAN Sorting nexin-29 (sprot)

A sorting nexin-29 that is encoded in the genome of human.


name: FRYL_HUMAN Protein furry homolog-like (sprot)

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


relapsing fever

description: Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.


ALECTINIB HYDROCHLORIDE

A hydrochloride obtained by combining alectinib with one molar equivalent of hydrochloric acid. Used for the treatment of patients with anaplastic lymphoma kinase-positive, metastatic non-small cell lung cancer.


spermatogenic failure

description: A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.


name: AT135_HUMAN Probable cation-transporting ATPase 13A5 (sprot)

description: A probable cation-transporting ATPase 13A5 that is encoded in the genome of human.


name: TM243_HUMAN Transmembrane protein 243 (sprot)

description: A protein that is a translation product of the TMEM243 gene in human.


acroosteolysis

description: A condition that is characterized by degeneration of the distal phalanges.


OXDD_HUMAN D-aspartate oxidase (sprot)

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


primary thrombocytopenia

description: Evidence of other primary thrombocytopenia not specified elsewhere.


name: CARL1_HUMAN F-actin-uncapping protein LRRC16A (sprot)

description: An F-actin-uncapping protein LRRC16A that is encoded in the genome of human.


DIPHENYLPYRALINE HYDROCHLORIDE

The hydrochloride salt of diphenylpyraline. A sedating antihistamine, it is used as the hydrochloride for the symptomatic relief of allergic conditions including rhinitis and hay fever, and in pruritic skin disorders.


Recurrent respiratory infections

description: An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.


GMPR2_HUMAN GMP reductase 2 (sprot)

A GMP reductase 2 that is encoded in the genome of human.


epidural spinal canal neoplasm

description: A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.


name: RASEF_HUMAN Ras and EF-hand domain-containing protein (sprot)

description: A RAS and EF-hand domain-containing protein that is encoded in the genome of human.


COR2B_HUMAN Coronin-2B (sprot)

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


cystitis cystica

description: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.


lysophosphatidylglycerol (P-34:3/0:0)

A 1-(Z-alk-1-enyl)-sn-glycero-3-phosphoglycerol in which the alkenyl group contains 34 carbons and has 3 additional double bonds.


name: PPM1N_HUMAN Probable protein phosphatase 1N (sprot)

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


name: MERTK_HUMAN Tyrosine-protein kinase Mer (sprot)

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


Carnosinuria

description: An increased concentration of carnosine in the urine.


hemochromatosis type 2

description: Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


MPP+

A pyridinium ion that is N-methylpyridinium having a phenyl substituent at the 4-position.


Tibialis anterior muscle atrophy

description: Wasting of the tibialis anterior muscle.


florid cemento-osseous dysplasia

description: Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.


PYRIDOXAMINE PHOSPHATE ANHYDROUS

A vitamin B6 phosphate that is the  phosphoric ester derivative of pyridoxamine.


name: DCBD1_HUMAN Discoidin, CUB and LCCL domain-containing protein 1 (sprot)

description: A discoidin, CUB and LCCL domain-containing protein 1 that is encoded in the genome of human.


GALACTITOL

An optically inactive hexitol having meso-configuration.


sarcoglycanopathy

description: Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.


perineurioma

description: A usually benign perineurioma not associated with a nerve, arising from the soft tissues.


name: RHG20_HUMAN Rho GTPase-activating protein 20 (sprot)

description: A Rho GTPase-activating protein 20 that is encoded in the genome of human.


tyrosinemia type II

description: Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.


adult-onset myasthenia gravis

description: Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.


alpha-glucuronosylceramide

A glycosylceramide in which alpha-D-glucuronic acid is linked glycosidically to a 3-hydroxy-2-{[(2R)-2-hydroxynonadecanoyl]amino}icosyl moiety. Present in the cell walls of Sphingomonas bacteria.


caffeoylglycolic acid methyl ester

A cinnamate ester obtained by the condensation of trans-caffeic acid with methyl hydroxyacetate. It is isolated from the leaves of Parthenocissus tricuspidata and exhibits antioxidant activity.


name: PCDG9_HUMAN Protocadherin gamma-A9 (sprot)

description: A protocadherin gamma-A9 that is encoded in the genome of human.


thecoma

description: An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.


TETRAZOLIUM VIOLET

An organic chloride salt having tetrazolium violet(1+) as the counterion.


description: Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.


complement component 5 deficiency

description: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.


name: ZNF93_HUMAN Zinc finger protein 93 (sprot)

description: A zinc finger protein 93 that is encoded in the genome of human.


Rhinorrhea

description: Increased discharge of mucus from the nose.


Hypoplasia of the brainstem

description: Underdevelopment of the brainstem.


name: B2L15_HUMAN Bcl-2-like protein 15 (sprot)

description: A Bcl-2-like protein 15 that is encoded in the genome of human.


O,O'-DIMETHYLCAFFEIC ACID

A methoxycinnamic acid that is trans-cinnamic acid substituted by methoxy groups at positions 3' and 4' respectively.


name: MPZL1_HUMAN Myelin protein zero-like protein 1 (sprot)

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


cyanuric chloride

A chloro-1,3,5-triazine in which the triazine ring is substituted on each carbon by chlorine. Its main use is in the preparation of the triazine-class pesticides.


name: TRBC1_HUMAN T cell receptor beta constant 1 (sprot)

description: A T-cell receptor beta chain C region that is encoded in the genome of human.


DIHYDROERGOTAMINE MESYLATE

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


ovarian Sertoli-Leydig cell tumor

description: A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.


name: RM11_HUMAN Large ribosomal subunit protein uL11m (sprot)

description: A large ribosomal subunit protein uL11m that is encoded in the genome of human.


Self-injurious behavior

description: Self-aggression.


Weil's disease

description: A jauncice caused by severe leptospirosis.


name: O10H1_HUMAN Olfactory receptor 10H1 (sprot)

description: An olfactory receptor 10H1 that is encoded in the genome of human.


HYDROXYGUANIDINE

A member of the class of guanidines that is guanidine in which one of the hydrogens attached to the nitrogen at position 1 is substituted by a hydroxy group.


subependymoma

description: Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.


name: PP16A_HUMAN Protein phosphatase 1 regulatory subunit 16A (sprot)

description: A protein phosphatase 1 regulatory subunit 16A that is encoded in the genome of human.


name: TMPS5_HUMAN Transmembrane protease serine 5 (sprot)

description: A transmembrane protease serine 5 that is encoded in the genome of human.


benign thyroid gland neoplasm

description: A benign neoplasm arising from the thyroid gland.


phenyl salicylate

A benzoate ester that is the phenyl ester of salicylic acid. Also known as salol, it can be formed by heating salicylic acid with phenol and is used in the manufacture of some polymers, lacquers, adhesives, waxes and polishes.


name: PTCD1_HUMAN Pentatricopeptide repeat-containing protein 1, mitochondrial (sprot)

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


fulminant viral hepatitis

description: Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.


name: CP100_HUMAN Cilia- and flagella-associated protein 100 (sprot)

description: A cilia- and flagella-associated protein 100 that is encoded in the genome of human.


carubicin

A toxic anthracycline antibiotic that is produced by Actinomadura carminata and also has potent antineoplastic activity.


placenta accreta

description: The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)


TRHY_HUMAN Trichohyalin (sprot)

A trichohyalin that is encoded in the genome of human.


name: IPP2B_HUMAN Protein phosphatase inhibitor 2 family member B (sprot)

description: A protein that is a translation product of the PPP1R2B gene in human.


2-bromodecanoic acid

A bromo fatty acid that is decanoic acid carrying a single bromo substituent at position 2.


KTHY_HUMAN Thymidylate kinase (sprot)

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


urethra transitional cell carcinoma

description: A transitional cell carcinoma that arises from the male or female urethra.


Gangrene

description: A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).


toxaphene

A highly complex mixture of several hundred polychlorinated compounds obtained by chlorination of camphene to an overall chlorine content of 67-69% by weight and having an overall empirical formula of C10H10Cl8 (including optical isomers, it could theoretically contain over 32,000 congeners). Toxaphene was used from the mid-1940s as an agricultural insecticide (mostly in the USA, particularly on corn and soybeans). Use increased with the phasing out of DDT in the 1970s (it became the most heavily manufactured pesticide in the US) but it is now banned due to concerns about toxicity and carcinogenicity. Total production since its first use is estimated at around 500,000 tons. In the environment, most of the components of toxaphene get metabolised, but from 10 to >100 resist biodegradation, depending on the medium and the specialisation of the enzyme system. Breathing, drinking or eating high levels of toxaphene can damage the lungs, kidneys, and nervous system.


name: COA3_HUMAN Cytochrome c oxidase assembly factor 3 homolog, mitochondrial (sprot)

description: A coiled-coil domain-containing protein 56 that is encoded in the genome of human.


name: ZBTB5_HUMAN Zinc finger and BTB domain-containing protein 5 (sprot)

description: A zinc finger and BTB domain-containing protein 5 that is encoded in the genome of human.


Cerebellar vermis atrophy

description: Wasting (atrophy) of the vermis of cerebellum.


methaqualone

A member of the class of quinazolines that is quinazolin-4-one substituted at positions 2 and 3 by methyl and  o-tolyl groups respectively. A depressant that increases the activity of the GABA receptors in the brain and nervous system, it is used as a sedative and hypnotic medication. It became popular as a recreational drug and club drug in the late 1960s and 1970s.


2-hydroxyhexadecanoic acid

A 2-hydroxy fatty acid comprising a C16 straight chain carrying a hydroxy substituent at position 2.


name: PCDB3_HUMAN Protocadherin beta-3 (sprot)

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


name: MA2B2_HUMAN Epididymis-specific alpha-mannosidase (sprot)

description: An epididymis-specific alpha-mannosidase that is encoded in the genome of human.


name: S35F3_HUMAN Solute carrier family 35 member F3 (sprot)

description: A solute carrier family 35 member F3 that is encoded in the genome of human.


Humoral immunodeficiency

description: A general term referring to a defect in immunity resulting from impaired antibody production.


Paroxysmal supraventricular tachycardia

description: An episodic form of supraventricular tachycardia with abrupt onset and termination.


name: ABCA9_HUMAN ATP-binding cassette sub-family A member 9 (sprot)

description: An ATP-binding cassette sub-family A member 9 that is encoded in the genome of human.


name: thyroid gland papillary and follicular carcinoma

description: A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)


SABINENE

A thujene that is a bicyclic monoterpene isolated from the essential oils of various plant species.


corbadrine

A catecholamine in which the 2-aminoethyl group is substituted with a hydroxy group at C-1 and a methyl group at C-2, with configurations 1R,2S. A metabolite of alpha-methyl-L-dopa, it is an alpha2-adrenergic agonist and acts as a topical nasal decongestant and vasoconstrictor, most often used in dentistry.


name: EDAR_HUMAN Tumor necrosis factor receptor superfamily member EDAR (sprot)

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


name: COPG2_HUMAN Coatomer subunit gamma-2 (sprot)

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


chenodeoxycholate

Conjugate base of chenodeoxycholic acid; major species at pH 7.3.


name: LDAF1_HUMAN Lipid droplet assembly factor 1 (sprot)

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


name: SMD1_HUMAN Small nuclear ribonucleoprotein Sm D1 (sprot)

description: A small nuclear ribonucleoprotein Sm D1 that is encoded in the genome of human.


name: TT39B_HUMAN Tetratricopeptide repeat protein 39B (sprot)

description: A tetratricopeptide repeat protein 39B that is encoded in the genome of human.


name: FBXL6_HUMAN F-box/LRR-repeat protein 6 (sprot)

description: An F-box/LRR-repeat protein 6 that is encoded in the genome of human.


Galloway-Mowat syndrome

description: Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.


name: psoriasis-related juvenile idiopathic arthritis

description: Childhood arthritis typically associated with psoriasis.


name: SAM9L_HUMAN Sterile alpha motif domain-containing protein 9-like (sprot)

description: A sterile alpha motif domain-containing protein 9-like that is encoded in the genome of human.


name: GPM6B_HUMAN Neuronal membrane glycoprotein M6-b (sprot)

description: A neuronal membrane glycoprotein M6-b that is encoded in the genome of human.


name: Bosch-Boonstra-Schaaf optic atrophy syndrome

description: Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.


Meier-Gorlin syndrome

description: Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).


name: KRA13_HUMAN Keratin-associated protein 1-3 (sprot)

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


name: primary cutaneous peripheral T-cell lymphoma not otherwise specified


DOK5_HUMAN Docking protein 5 (sprot)

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


cochalic acid

A pentacyclic triterpenoid that is oleanane which has been substituted by hydroxy groups at the 3beta and 16beta positions, dehydrogenated to introduce a double bond at the 12-13 position, and in which the methyl substituent at position 17 has undergone oxidation to give the corresponding carboxylic acid. Found in the cactus Myrtillocactus cochal.


meningeal melanocytoma

description: A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.


pathologic nystagmus

description: Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.


name: PPE1_HUMAN Serine/threonine-protein phosphatase with EF-hands 1 (sprot)

description: A serine/threonine-protein phosphatase with EF-hands 1 that is encoded in the genome of human.


name: TF3C5_HUMAN General transcription factor 3C polypeptide 5 (sprot)

description: A general transcription factor 3C polypeptide 5 that is encoded in the genome of human.


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


name: PLPP5_HUMAN Phospholipid phosphatase 5 (sprot)

description: A phospholipid phosphatase 5 that is encoded in the genome of human.


mercury poisoning

description: Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.


human HOXA1 syndromes

description: Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.


name: RPP38_HUMAN Ribonuclease P protein subunit p38 (sprot)

description: A ribonuclease P protein subunit p38 that is encoded in the genome of human.


name: LAMB4_HUMAN Laminin subunit beta-4 (sprot)

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


N-Acetylneuraminic acid reduced across the 2,3-bond with loss of the hydroxy group at C-2; it is a minor component of body fluids although abundant in sialuria.


A 1-alkyl-3-methylimidazolium in which the alkyl substituent at C-1 is ethyl.


name: CRTAM_HUMAN Cytotoxic and regulatory T-cell molecule (sprot)

description: A cytotoxic and regulatory T-cell molecule that is encoded in the genome of human.


name: ZCH24_HUMAN Zinc finger CCHC domain-containing protein 24 (sprot)

description: A zinc finger CCHC domain-containing protein 24 that is encoded in the genome of human.


name: ADCY2_HUMAN Adenylate cyclase type 2 (sprot)

description: An adenylate cyclase type 2 that is encoded in the genome of human.


EBV encephalitis

description: Inflamation of the brain related to infection by Epstein-Barr virus.


name: MBOA1_HUMAN Lysophospholipid acyltransferase 1 (sprot)

description: A lysophospholipid acyltransferase 1 that is encoded in the genome of human.


trisomy 21

description: A chromosomal disorder consisting of the presence of an extra chromosome 21.


Hyperxanthinemia

description: An increased level of xanthine in the blood circulation.


name: PRAM8_HUMAN PRAME family member 8 (sprot)

description: A PRAME family member 8 that is encoded in the genome of human.


lice infestation

description: A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.


uveal disorder

description: A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.


name: TMM71_HUMAN Transmembrane protein 71 (sprot)

description: A transmembrane protein 71 that is encoded in the genome of human.


name: GSKIP_HUMAN GSK3B-interacting protein (sprot)

description: A GSK3B-interacting protein that is encoded in the genome of human.


septic peritonitis

description: Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.


Cold-induced sweating syndrome 1

description: Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.


ZM 323881 hydrochloride

A hydrochloride obtained by combining ZM 323881 with one molar equivalent of hydrochloric acid.


name: DAA10_HUMAN Dynein axonemal assembly factor 10 (sprot)

description: A dynein axonemal assembly factor 10 that is encoded in the genome of human.


name: acute myeloid leukemia by FAB classification

description: Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.


name: High-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the higher frequencies.


name: TMTC4_HUMAN Protein O-mannosyl-transferase TMTC4 (sprot)

description: A protein O-mannosyl-transferase TMTC4 that is encoded in the genome of human.


Nonidet P-40

A poly(ether) macromolecule that is polyethylene glycol in which one of the terminal hydroxy groups has been converted to the corresponding p-octylphenyl ether. A nonionic, non-denaturing detergent, it is used for solubilising membrane proteins during isolation of membrane-protein complexes. n ~ 8.


name: ATP9A_HUMAN Probable phospholipid-transporting ATPase IIA (sprot)

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


Generalized tonic seizure

description: A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.


rectum neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).


NU188_HUMAN Nucleoporin NUP188 (sprot)

A nucleoporin NUP188 that is encoded in the genome of human.


name: C19L1_HUMAN CWF19-like protein 1 (sprot)

description: A CWF19-like protein 1 that is encoded in the genome of human.


name: Reduced left ventricular ejection fraction

description: A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


name: ACRBP_HUMAN Acrosin-binding protein (sprot)

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


name: ABHDA_HUMAN Palmitoyl-protein thioesterase ABHD10, mitochondrial (sprot)

description: A palmitoyl-protein thioesterase ABHD10, mitochondrial that is encoded in the genome of human.


name: T10B_HUMAN Mitochondrial import inner membrane translocase subunit Tim10 B (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim9 B that is encoded in the genome of human.


name: UB2R2_HUMAN Ubiquitin-conjugating enzyme E2 R2 (sprot)

description: A ubiquitin-conjugating enzyme E2 R2 that is encoded in the genome of human.


DEMA_HUMAN Dematin (sprot)

A dematin that is encoded in the genome of human.


name: FSBP_HUMAN Fibrinogen silencer-binding protein (sprot)

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


oligodendroglial tumor

description: Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).


name: KBL_HUMAN 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial (sprot)

description: A 2-amino-3-ketobutyrate coenzyme A ligase that is encoded in the genome of human.


Hepatic granulomatosis

description: The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


description: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.


HUTU_HUMAN Urocanate hydratase (sprot)

A urocanate hydratase that is encoded in the genome of human.


lymphatic system cancer

description: A malignant neoplasm involving the lymphatic part of lymphoid system


classic medulloblastoma

description: Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.


diphenylpyraline

A member of the class of  piperidines that is the benzhydryl ether derivative of 1-methyl-4-hydroxypiperidine. A sedating antihistamine, it is used as the hydrochloride for the symptomatic relief of allergic conditions including rhinitis and hay fever, and in pruritic skin disorders. It is also used as the teoclate salt (piprinhydrinate) as an ingredient in compound preparations for the symptomatic relief of coughs and the common cold.


ammonium bromide

An ammonium salt composed of ammonium and bromide ions in a 1:1 ratio.


DB116_HUMAN Beta-defensin 116 (sprot)

A beta-defensin 116 that is encoded in the genome of human.


Congenital thrombocytopenia

description: Thrombocytopenia with congenital onset.


skin infiltrative basal cell carcinoma

description: A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.


name: SH3BG_HUMAN SH3 domain-binding glutamic acid-rich protein (sprot)

description: An SH3 domain-binding glutamic acid-rich protein that is encoded in the genome of human.


GM1 gangliosidosis type 1

description: GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.


name: HSH2D_HUMAN Hematopoietic SH2 domain-containing protein (sprot)

description: A hematopoietic SH2 domain-containing protein that is encoded in the genome of human.


name: TM9S2_HUMAN Transmembrane 9 superfamily member 2 (sprot)

description: A transmembrane 9 superfamily member 2 that is encoded in the genome of human.


name: gastric adenocarcinoma and proximal polyposis of the stomach

description: A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: TNR6C_HUMAN Trinucleotide repeat-containing gene 6C protein (sprot)

description: A trinucleotide repeat-containing gene 6C protein that is encoded in the genome of human.


autoimmune oophoritis

description: Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.


4-ethylphenyl sulfate(1-)

A phenyl sulfate oxoanion that is the conjugate base of 4-ethylphenyl sulfate, obtained by deprotonation of the sulfate group; major species at pH 7.3.


transaldolase deficiency

description: Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.


patellofemoral pain syndrome

description: A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.


citalopram hydrobromide

A racemate comprising equimolar amounts of (R)-citalopram hydrobromide and escitalopram hydrobromide. It is used for the treatment of depression. Only the (S)-enantiomer, (escitalopram hydrobromide) is active.


name: GBGT1_HUMAN Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (sprot)

description: A globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


Mild microcephaly

description: Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).


name: RAB41_HUMAN Ras-related protein Rab-41 (sprot)

description: A Ras-related protein Rab-41 that is encoded in the genome of human.


name: AN30B_HUMAN Ankyrin repeat domain-containing protein 30B (sprot)

description: An ankyrin repeat domain-containing protein 30B that is encoded in the genome of human.


cerebral creatine deficiency syndrome

description: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


Any mixture of complex, colloidal, macromolecular plant galacturonans containing a large proportion of D-galactopyranosyluronic acid residues in alpha-(1->4) linkage, the carboxy groups of which may be esterified to varying degrees by methyl groups or be partially or completely converted into salts. The structure shown is that of the parent polygalacturonan.


D-pantetheine 4'-phosphate

Pantetheine 4'-phosphate with D (R) configuration at the 2' position.


name: AHNK_HUMAN Neuroblast differentiation-associated protein AHNAK (sprot)

description: A neuroblast differentiation-associated protein AHNAK that is encoded in the genome of human.


smooth muscle cancer

description: A malignant neoplasm arising from smooth muscle.


SCLAREOL

A labdane diterpenoid that is labd-14-ene substituted by hydroxy groups at positions 8 and 13. It has been isolated from Salvia sclarea.


name: VP26C_HUMAN Vacuolar protein sorting-associated protein 26C (sprot)

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


AQ12A_HUMAN Aquaporin-12A (sprot)

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


alopecia, congenital

description: A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.


A naphthalenecarboxamide resulting from the formal condensation of the carboxy group of 2-naphthoic acid with ammonia.


name: ACHA6_HUMAN Neuronal acetylcholine receptor subunit alpha-6 (sprot)

description: A neuronal acetylcholine receptor subunit alpha-6 that is encoded in the genome of human.


name: ZNF3_HUMAN Zinc finger protein 3 (sprot)

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


gamma-aminobutyrate

An gamma-amino acid anion resulting from the deprotonation of the carboxy group of gamma-aminobutyric acid.


aminoacetone

A propanone consisting of acetone having an amino group at the 1-position.


alminoprofen

A substituted aniline that is ibuprofen in which the isobutyl group is replaced by a (2-methylprop-2-en-1-yl)amino group. A non-steroidal anti-inflammatory drug, it is used for treatment of inflammatory and rheumatic disorders.


alpha-pinene oxide

An epoxide of alpha-pinene.


DESIPRAMINE HYDROCHLORIDE

The hydrochloride salt of desipramine.


melanoacanthoma

description: A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.


Laron syndrome

description: Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.


Intellectual disability, progressive

description: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.


A tripeptide that is the 2-phenylethyl amide of L-arginyl-2,5,7-tri-tert-butyl-L-tryptophyl-L-arginine


phloretate

A hydroxy monocarboxylic acid anion that is the conjugate base of phloretic acid, arising from deprotonation of the carboxy group.


ERIODICTYOL

A tetrahydroxyflavanone that is flavanone substituted by hydroxy groups at positions 5, 7, 3' and 4' respectively.


name: CAZA2_HUMAN F-actin-capping protein subunit alpha-2 (sprot)

description: An F-actin-capping protein subunit alpha-2 that is encoded in the genome of human.


cinnamamide

The simplest member of the class of cinnamamides that consists of acrylamide bearing a phenyl substituent at the 3-position.


Cylindruria

description: The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.


name: C2CD5_HUMAN C2 domain-containing protein 5 (sprot)

description: A C2 domain-containing protein 5 that is encoded in the genome of human.


Pharyngalgia

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.


bilateral breast carcinoma

description: Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.


N-butylbenzenesulfonamide

A sulfonamide that is benzenesulfonamide substituted by a butyl group at the nitrogen atom. It has been isolated from the plant Prunus africana and has been shown to exhibit antiandrogenic activity.


Cardiomyocyte degeneration

description: Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


4-NITROPHENYL ACETATE

A phenyl acetate resulting from the formal condensation of the hydroxy group of 4-nitrophenol with the carboxy group of acetic acid.


Abasia

description: A severe form of gait ataxia such that an affected person cannot walk at all.


N-methylethanolamine phosphate

The O-phospho derivative of N-methylethanolamine.


ARV1_HUMAN Protein ARV1 (sprot)

A protein ARV1 that is encoded in the genome of human.


name: VPS54_HUMAN Vacuolar protein sorting-associated protein 54 (sprot)

description: A vacuolar protein sorting-associated protein 54 that is encoded in the genome of human.


name: INSRR_HUMAN Insulin receptor-related protein (sprot)

description: An insulin receptor-related protein that is encoded in the genome of human.


A member of the class of chloroethanes carrying three chloro substituents at position 1.


EURL_HUMAN Protein EURL homolog (sprot)

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


name: DHB12_HUMAN Very-long-chain 3-oxoacyl-CoA reductase (sprot)

description: A very-long-chain 3-oxoacyl-CoA reductase that is encoded in the genome of human.


name: AKIP_HUMAN Small ribosomal subunit protein mS38 (sprot)

description: A small ribosomal subunit protein mS38 that is encoded in the genome of human.


name: RBM11_HUMAN Splicing regulator RBM11 (sprot)

description: A splicing regulator RBM11 that is encoded in the genome of human.


Xanthomas of the palmar creases

description: The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


name: HAUS5_HUMAN HAUS augmin-like complex subunit 5 (sprot)

description: A HAUS augmin-like complex subunit 5 that is encoded in the genome of human.


name: ATTY_HUMAN Tyrosine aminotransferase (sprot)

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


name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

description: A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.


ANXA9_HUMAN Annexin A9 (sprot)

An annexin A9 that is encoded in the genome of human.


A  C21-steroid that is cortisone bearing an additional hydroxy substituent at the 6beta-position. It is produced as a metabolite of cortisol by cytochrome p450-3A4 (CYP3A4, an important enzyme involved in the metabolism of a variety of exogenous and endogenous compounds) and can be used to detect moderate and potent CYP3A4 inhibition in vivo.


name: CCD34_HUMAN Coiled-coil domain-containing protein 34 (sprot)

description: A coiled-coil domain-containing protein 34 that is encoded in the genome of human.


hypothiocyanous acid

A  sulfur oxoacid that is sulfenic acid in which the hydrogen attached to the sulfur has been replaced by a cyano group.


neurofibromatosis-Noonan syndrome

description: A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).


description: A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


name: KPRB_HUMAN Phosphoribosyl pyrophosphate synthase-associated protein 2 (sprot)

description: A phosphoribosyl pyrophosphate synthase-associated protein 2 that is encoded in the genome of human.


fixed pigmented erythema

description: Round areas of red-purple reaction in the skin that result after drug exposure; these recur in the same location when the medication is readministered.


name: LMF2_HUMAN Lipase maturation factor 2 (sprot)

description: A lipase maturation factor 2 that is encoded in the genome of human.


multiple carboxylase deficiency

description: Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.


Hypomethioninemia

description: A decreased concentration of methionine in the blood.


name: PLAC9_HUMAN Placenta-specific protein 9 (sprot)

description: A placenta-specific protein 9 that is encoded in the genome of human.


name: CNO10_HUMAN CCR4-NOT transcription complex subunit 10 (sprot)

description: A CCR4-NOT transcription complex subunit 10 that is encoded in the genome of human.


syringomyelia

description: Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).


name: MYL6B_HUMAN Myosin light chain 6B (sprot)

description: A myosin light chain 6B that is encoded in the genome of human.


name: IgG4-related dacryoadenitis and sialadenitis

description: IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.


congenital pseudoarthrosis of the tibia

description: A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.


Disseminated histoplasmosis

description: Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.


(S)-blebbistatin

The (S)-enantiomer of blebbistatin.


Abnormal limb bone morphology

description: Any abnormality of bones of the arms or legs.


intestinal benign neoplasm

description: A benign neoplasm that involves the intestine.


A dihydroxyacetophenone that is acetophenone carrying hydroxy substituents at positions 2' and 4'.


name: HPS6_HUMAN BLOC-2 complex member HPS6 (sprot)

description: A BLOC-2 complex member HPS6 that is encoded in the genome of human.


imperforate anus

description: A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.


beta-D-glucosylceramide

Any glucosylceramide in which the glucosyl component has beta-D-configuration.


name: PTPRE_HUMAN Receptor-type tyrosine-protein phosphatase epsilon (sprot)

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


A 1-monoglyceride where the acyl group is arachidonoyl.


ophthalmoplegia

description: Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.


name: TM6S1_HUMAN Transmembrane 6 superfamily member 1 (sprot)

description: A transmembrane 6 superfamily member 1 that is encoded in the genome of human.


name: thiamine-responsive maple syrup urine disease

description: Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.


indeterminate dendritic cell tumor

description: A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.


name: RHG28_HUMAN Rho GTPase-activating protein 28 (sprot)

description: A Rho GTPase-activating protein 28 that is encoded in the genome of human.


name: CD11A_HUMAN Cyclin-dependent kinase 11A (sprot)

description: A cyclin-dependent kinase 11A that is encoded in the genome of human.


syringocystadenoma papilliferum

description: A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.


SNX12_HUMAN Sorting nexin-12 (sprot)

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


small intestine neoplasm

description: A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.


name: RSMB_HUMAN Small nuclear ribonucleoprotein-associated proteins B and B' (sprot)

description: A small nuclear ribonucleoprotein-associated proteins B and B' that is encoded in the genome of human.


name: TAD2B_HUMAN Transcriptional adapter 2-beta (sprot)

description: A transcriptional adapter 2-beta that is encoded in the genome of human.


Hypaphorine

An amino acid betaine obtaine by exhaustive methylation of the alpha-amino group of L-tryptophan with concomitant deprotonation of the carboxy group.


SGCZ_HUMAN Zeta-sarcoglycan (sprot)

A zeta-sarcoglycan that is encoded in the genome of human.


name: TNG6_HUMAN Transport and Golgi organization protein 6 homolog (sprot)

description: A transport and Golgi organization 6 that is encoded in the genome of human.


CST9_HUMAN Cystatin-9 (sprot)

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


name: T2R40_HUMAN Taste receptor type 2 member 40 (sprot)

description: A taste receptor type 2 member 40 that is encoded in the genome of human.


name: NDST3_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 (sprot)

description: A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 that is encoded in the genome of human.


western equine encephalitis

description: An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.


name: KCAB3_HUMAN Voltage-gated potassium channel subunit beta-3 (sprot)

description: A voltage-gated potassium channel subunit beta-3 that is encoded in the genome of human.


A monohydroxyacetophenone that is acetophenone in which one of the hydrogens ortho to the acetyl group has been replaced by a hydroxy group.


scimitar syndrome

description: Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.


name: ZP4_HUMAN Zona pellucida sperm-binding protein 4 (sprot)

description: A zona pellucida sperm-binding protein 4 that is encoded in the genome of human.


name: IBTK_HUMAN Inhibitor of Bruton tyrosine kinase (sprot)

description: An inhibitor of Bruton tyrosine kinase that is encoded in the genome of human.


A C21-steroid that is 5beta-pregnane with oxo groups at positions 3 and 20.


NET5_HUMAN Netrin-5 (sprot)

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


leukostasis

description: A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.


enprofylline

Xanthine bearing a propyl substituent at position 3. A bronchodilator, it is used for the symptomatic treatment of asthma and chronic obstructive pulmonary disease, and in the management of cerebrovascular insufficiency, sickle cell disease, and diabetic neuropathy.


name: VCX2_HUMAN Variable charge X-linked protein 2 (sprot)

description: A variable charge X-linked protein 2 that is encoded in the genome of human.


name: ACSS3_HUMAN Acyl-CoA synthetase short-chain family member 3, mitochondrial (sprot)

description: An acyl-CoA synthetase short-chain family member 3, mitochondrial that is encoded in the genome of human.


XKR5_HUMAN XK-related protein 5 (sprot)

An XK-related protein 5 that is encoded in the genome of human.


esophageal adenoid cystic carcinoma

description: An infrequent esophageal carcinoma arising from esophageal glands. (WHO)


trachyspic acid

An  oxaspiro compound that is 1,6-dioxaspiro[4.4]non-2-en-4-one substituted by a carboxymethyl group at position 2, carboxy groups at positions 2 and 3, an oxo group at position 9 and a nonyl group at position 8. Isolated from the culture broth of the fungus Talaromyces trachyspermus, it exhibits inhibitory activity against the enzyme heparanase.


calcium nitrate

Inorganic nitrate salt of calcium.


Plummer-Vinson syndrome

description: Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.


TSN16_HUMAN Tetraspanin-16 (sprot)

A tetraspanin-16 that is encoded in the genome of human.


name: GP119_HUMAN Glucose-dependent insulinotropic receptor (sprot)

description: A glucose-dependent insulinotropic receptor that is encoded in the genome of human.


name: DALD3_HUMAN DALR anticodon-binding domain-containing protein 3 (sprot)

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


CABRALEAHYDROXYLACTONE

A tetracyclic triterpenoid isolated from the stems of  Aglaia abbreviata.


Centrilobular emphysema

description: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


name: FIGLA_HUMAN Factor in the germline alpha (sprot)

description: A factor in the germline alpha that is encoded in the genome of human.


name: ARB2A_HUMAN Cotranscriptional regulator ARB2A (sprot)

description: A cotranscriptional regulator ARB2A that is encoded in the genome of human.


name: IAH1_HUMAN Isoamyl acetate-hydrolyzing esterase 1 homolog (sprot)

description: An isoamyl acetate-hydrolyzing esterase 1 that is encoded in the genome of human.


name: BRDT_HUMAN Bromodomain testis-specific protein (sprot)

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


name: NTCP4_HUMAN Sodium/bile acid cotransporter 4 (sprot)

description: A sodium/bile acid cotransporter 4 that is encoded in the genome of human.


name: hereditary sensory and autonomic neuropathy type 1

description: Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.


name: NDUF3_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 (sprot)

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


name: DEN5B_HUMAN DENN domain-containing protein 5B (sprot)

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


spastic ataxia 4

description: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.


DCXR_HUMAN L-xylulose reductase (sprot)

An L-xylulose reductase that is encoded in the genome of human.


name: MARH4_HUMAN E3 ubiquitin-protein ligase MARCHF4 (sprot)

description: An E3 ubiquitin-protein ligase MARCHF4 that is encoded in the genome of human.


toxic amblyopia

description: A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.


Potter sequence

description: A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.


name: MROH7_HUMAN Maestro heat-like repeat-containing protein family member 7 (sprot)

description: A maestro heat-like repeat-containing protein family member 7 that is encoded in the genome of human.


name: HV330_HUMAN Immunoglobulin heavy variable 3-30 (sprot)

description: A protein that is a translation product of the IGHV3-30 gene in human.


gamma-linolenoyl-CoA

An octadecatrienoyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of gamma-linolenic acid.


Skin ulcer

description: A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.


Limb pain

description: Chronic pain in the limbs with no clear focal etiology.


A monohydroxyflavanone that is flavanone substituted by a hydroxy group at position 6.


name: CO4A4_HUMAN Collagen alpha-4(IV) chain (sprot)

description: A collagen alpha-4(IV) chain that is encoded in the genome of human.


diffuse glomerulonephritis

description: Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.


IFNA8_HUMAN Interferon alpha-8 (sprot)

An interferon alpha-8 that is encoded in the genome of human.


name: PUSL1_HUMAN tRNA pseudouridine synthase-like 1 (sprot)

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


An N-acylneuraminate-9-phosphatase that is encoded in the genome of human.


name: AVEN_HUMAN Cell death regulator Aven (sprot)

description: A cell death regulator Aven that is encoded in the genome of human.


swine vesicular disease

description: An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.


name: MPP4_HUMAN MAGUK p55 subfamily member 4 (sprot)

description: A MAGUK p55 subfamily member 4 that is encoded in the genome of human.


name: IGSF5_HUMAN Immunoglobulin superfamily member 5 (sprot)

description: An immunoglobulin superfamily member 5 that is encoded in the genome of human.


14-hydroxymyristic acid

An omega-hydroxy-long-chain fatty acid that is myristic (tetradecanoic) acid substituted at position 14 by a hydroxy group.


name: FOXR1_HUMAN Forkhead box protein R1 (sprot)

description: A forkhead box protein R1 that is encoded in the genome of human.


name: NIP7_HUMAN 60S ribosome subunit biogenesis protein NIP7 homolog (sprot)

description: A 60S ribosome subunit biogenesis protein NIP7 that is encoded in the genome of human.


acitretin/etretinate embryopathy

description: Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.


GABA aminotransaminase deficiency

description: Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.


CLXN_HUMAN Calaxin (sprot)

A calaxin that is encoded in the genome of human.


gallbladder sarcoma

description: A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.


Mild albuminuria

description: The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


pancreas lymphoma

description: A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.


name: NMRL1_HUMAN NmrA-like family domain-containing protein 1 (sprot)

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


CPNE7_HUMAN Copine-7 (sprot)

A copine-7 that is encoded in the genome of human.


Vici syndrome

description: A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.


name: OTU6A_HUMAN OTU domain-containing protein 6A (sprot)

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


name: KLH18_HUMAN Kelch-like protein 18 (sprot)

description: A kelch-like protein 18 that is encoded in the genome of human.


name: CEGT_HUMAN Ceramide glucosyltransferase (sprot)

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


name: I20RB_HUMAN Interleukin-20 receptor subunit beta (sprot)

description: An interleukin-20 receptor subunit beta that is encoded in the genome of human.


name: CEP76_HUMAN Centrosomal protein of 76 kDa (sprot)

description: A centrosomal protein of 76 kDa that is encoded in the genome of human.


46,XY partial gonadal dysgenesis

description: 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.


name: MPRD_HUMAN Cation-dependent mannose-6-phosphate receptor (sprot)

description: A cation-dependent mannose-6-phosphate receptor that is encoded in the genome of human.


name: GSTA5_HUMAN Glutathione S-transferase A5 (sprot)

description: A glutathione S-transferase A5 that is encoded in the genome of human.


name: CCD91_HUMAN Coiled-coil domain-containing protein 91 (sprot)

description: A coiled-coil domain-containing protein 91 that is encoded in the genome of human.


paliperidone

A racemate comprising equimolar amounts of (R)- and (S)-paliperidone. Paliperidone is the primary active metabolite of the older antipsychotic risperidone and is used for treatment of schizophrenia.


name: RM24_HUMAN Large ribosomal subunit protein uL24m (sprot)

description: A large ribosomal subunit protein uL24m that is encoded in the genome of human.


Gerstmann-Straussler-Scheinker syndrome

description: A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.


name: T2H2L_HUMAN General transcription factor IIH subunit 2-like protein (sprot)

description: A protein that is a translation product of any of the following genes in human: GTF2H2C/GTF2H2C_2.


name: FKBP7_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP7 (sprot)

description: A peptidyl-prolyl cis-trans isomerase FKBP7 that is encoded in the genome of human.


A 2-hydroxy carboxylate that is obtained by removal of a proton from the carboxylic acid group of 3-(4-hydroxyphenyl)lactic acid.


Intestinal fistula

description: An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.


name: S14L4_HUMAN SEC14-like protein 4 (sprot)

description: A SEC14-like protein 4 that is encoded in the genome of human.


hemiparkinsonism-hemiatrophy syndrome

description: Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.


rose oxide

A member of the class of oxanes that is  tetrahydro-2H-pyran which is substituted at positions 2 and 4 by an isoprop-1-enyl group and a methyl group, respectively. Organic compound of the pyran class and the monoterpene class and a fragrance found in roses and rose oil. All four possible stereoisomers are known; the 2S,4R and 2S,4S diastereoisomers [also known as the (-)-cis- and (-)-trans-isomers, respectively] are the main constituents in several essential oils and are used as a food flavouring and in perfumes and cosmetics.


HEXADECYLTRIMETHYLAMMONIUM CHLORIDE

The organic chloride salt of cetyltrimethylammonium.


name: AP5Z1_HUMAN AP-5 complex subunit zeta-1 (sprot)

description: An AP-5 complex subunit zeta-1 that is encoded in the genome of human.


name: SMI21_HUMAN Small integral membrane protein 21 (sprot)

description: A protein that is a translation product of the SMIM21 gene in human.


name: Chronic disseminated intravascular coagulation

description: A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.


Cerebellar vermis hypoplasia

description: Underdevelopment of the vermis of cerebellum.


Thyroid nodule

description: A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.


CRBB1_HUMAN Beta-crystallin B1 (sprot)

A beta-crystallin B1 that is encoded in the genome of human.


name: MCTP2_HUMAN Multiple C2 and transmembrane domain-containing protein 2 (sprot)

description: A multiple C2 and transmembrane domain-containing protein 2 that is encoded in the genome of human.


clopidogrel carboxylic acid

A thienopyridine that is 6,7-dihydrothieno[3,2-c]pyridin-5(4H)-ylacetic acid substituted by a 2-chlorophenyl group at position 2. It is a metabolite of the drug  clopidogrel.


description: Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.


transitional cell papilloma

description: A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.


BUTOXYETHANOL

A primary alcohol that is ethanol in which one of the methyl hydrogens is replaced by a butoxy group. A high-boiling (171degreeC) colourless liquid, it is used as a solvent for paints and inks, as well as in some dry cleaning solutions.


name: FHR2_HUMAN Complement factor H-related protein 2 (sprot)

description: A complement factor H-related protein 2 that is encoded in the genome of human.


sn-glycerol 1-phosphate(2-)

A glycerol 1-phosphate(2-) that is the dianion of sn-glycerol 1-phosphate arising from deprotonation of both phosphate OH groups.


name: CB092_HUMAN Uncharacterized protein C2orf92 (sprot)

description: A protein that is a translation product of the C2orf92 gene in human.


name: SCRT2_HUMAN Transcriptional repressor scratch 2 (sprot)

description: A transcriptional repressor scratch 2 that is encoded in the genome of human.


name: LMBL3_HUMAN Lethal(3)malignant brain tumor-like protein 3 (sprot)

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


A pyrimidine 2'-deoxyribonucleoside composed of 2'-deoxyuridine having a 5-hydroxymethyl substituent.


name: T106C_HUMAN Transmembrane protein 106C (sprot)

description: A transmembrane protein 106C that is encoded in the genome of human.


sonolisib

An organic heterotetracyclic compound that is obtained from wortmanin via aminolysis of its furan ring by diallyl amine.


PHOSPHONOACETOHYDROXAMATE

The hydroxamate of phosphonoacetic acid.


Hypoargininemia

description: A decreased concentration of arginine in the blood.


name: ZIM2_HUMAN Zinc finger imprinted 2 (sprot)

description: A zinc finger imprinted 2 that is encoded in the genome of human.


F177A_HUMAN Protein FAM177A1 (sprot)

A protein FAM177A1 that is encoded in the genome of human.


description: A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.


Bartter syndrome with hypocalcemia

description: Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)


BSN_HUMAN Protein bassoon (sprot)

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


glutaconic acid

A pentenedioic acid that is pent-2-ene substituted by carboxy groups at positions 1 and 5.


photokeratitis

description: Injury to the cornea secondary to ultraviolet light.


name: ZNF85_HUMAN Zinc finger protein 85 (sprot)

description: A zinc finger protein 85 that is encoded in the genome of human.


cyclic di-GMP

A cyclic purine dinucleotide that is the 3',5'-cyclic dimer of MP.


name: HACL2_HUMAN 2-hydroxyacyl-CoA lyase 2 (sprot)

description: A 2-hydroxyacyl-CoA lyase 2 that is encoded in the genome of human.


name: PIP30_HUMAN PSME3-interacting protein (sprot)

description: A PSME3-interacting protein that is encoded in the genome of human.


A 4-hydroxy steroid that is estrone substituted by a hydroxy group at position 4.


SNX25_HUMAN Sorting nexin-25 (sprot)

A sorting nexin-25 that is encoded in the genome of human.


hypoglycin A

A diastereoisomeric mixture of (2S,4R)- and (2S,4S)- hypoglycin A, found in the edible part of the fruit of the Ackee, Blighia sapida (where the 2S,4R diastereoisomer is more dominant (17% d.e.) than its 2S,4S counterpart) as well as in the sycamore maple tree (Acer pseudoplatanus).


systemic polyarteritis nodosa

description: Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.


name: PGGHG_HUMAN Protein-glucosylgalactosylhydroxylysine glucosidase (sprot)

description: A protein-glucosylgalactosylhydroxylysine glucosidase that is encoded in the genome of human.


Small nail

description: A nail that is diminished in length and width, i.e., underdeveloped nail.


name: CLYBL_HUMAN Citramalyl-CoA lyase, mitochondrial (sprot)

description: A citramalyl-CoA lyase, mitochondrial that is encoded in the genome of human.


benzamidine

A carboxamidine that is benzene carrying an amidino group.


name: CNPY1_HUMAN Protein canopy homolog 1 (sprot)

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


bile duct adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the bile duct


name: RHBD3_HUMAN Rhomboid domain-containing protein 3 (sprot)

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


angiokeratoma of scrotum

description: An angiokeratoma that is located on the scrotum.


middle ear adenoma

description: A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.


sulfaguanidine

A sulfonamide incorporating a guanidine moiety used to block the synthesis of folic acid; mostly used in veterinary medicine


name: TAF1L_HUMAN Transcription initiation factor TFIID subunit 1-like (sprot)

description: A transcription initiation factor TFIID 210 kDa subunit that is encoded in the genome of human.


BY55_HUMAN CD160 antigen (sprot)

A CD160 molecule that is encoded in the genome of human.


name: MORN1_HUMAN MORN repeat-containing protein 1 (sprot)

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


name: CX6B2_HUMAN Cytochrome c oxidase subunit 6B2 (sprot)

description: A cytochrome c oxidase subunit 6B2 that is encoded in the genome of human.


name: MOB3A_HUMAN MOB kinase activator 3A (sprot)

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


ear neoplasm

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


name: PSCA_HUMAN Prostate stem cell antigen (sprot)

description: A prostate stem cell antigen that is encoded in the genome of human.


primary progressive aphasia

description: Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).


sporadic hemiplegic migraine

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


transient tic disorder

description: A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.


name: MB211_HUMAN Putative nucleotidyltransferase MAB21L1 (sprot)

description: A putative nucleotidyltransferase MAB21L1 that is encoded in the genome of human.


Hypermanganesemia

description: An elevation above the normal concentration of manganese in the blood.


name: MFS12_HUMAN Major facilitator superfamily domain-containing protein 12 (sprot)

description: A major facilitator superfamily domain-containing protein 12 that is encoded in the genome of human.


ACETIC ACID PROPYL ESTER

An  acetate ester obtained by the formal condensation of acetic acid with propanol.


profoxydim

A cyclic ketone that is 3-hydroxycyclohex-2-en-1-one substituted by a N-[2-(4-chlorophenoxy)propoxy]butanimidoyl group at position 2 and by a thian-3-yl group at position 5. It is a herbicide used for the control of grass weeds in rice.


POLI_HUMAN DNA polymerase iota (sprot)

A DNA polymerase iota that is encoded in the genome of human.


name: SRPRA_HUMAN Signal recognition particle receptor subunit alpha (sprot)

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


TETRAGASTRIN

A tetrapeptide composed of L-tryptophan, L-methione, L-aspartic acid and L-phenylalaninamide residues joined in sequence.


GALM_HUMAN Galactose mutarotase (sprot)

A galactose mutarotase that is encoded in the genome of human.


name: clear cell papillary renal cell carcinoma

description: Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.


benign glioma

description: A form of glioma without malignant characteristics.


Ellis-van Creveld syndrome

description: Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.


name: S13A3_HUMAN Na(+)/dicarboxylate cotransporter 3 (sprot)

description: A Na(+)/dicarboxylate cotransporter 3 that is encoded in the genome of human.


branchiootic syndrome

description: Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).


name: MCF2L_HUMAN Guanine nucleotide exchange factor DBS (sprot)

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


name: FES_HUMAN Tyrosine-protein kinase Fes/Fps (sprot)

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


Ro 5-3335

A 1,4-benzodiazepinone that is nordazepam in which the phenyl substituent has been replaced by a 1H-pyrrol-2-yl group. It inhibits gene expression in HIV-1 at the transcriptional level through interference with Tat-mediated transactivation.


1,7-dimethyluric acid

An oxopurine that is 7,9-dihydro-1H-purine-2,6,8(3H)-trione substituted by methyl groups at N-1 and N-7. It is a metabolite of caffeine and is often found in human urine samples.


torsades de pointes

description: A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.


name: GEMI8_HUMAN Gem-associated protein 8 (sprot)

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


name: K2C78_HUMAN Keratin, type II cytoskeletal 78 (sprot)

description: A keratin, type II cytoskeletal 78 that is encoded in the genome of human.


Oguchi disease

description: Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.


butyryl-CoA

A short-chain fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of butyric acid.


facial dermatosis

description: Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.


PPHLN_HUMAN Periphilin-1 (sprot)

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


ureter squamous cell carcinoma

description: A rare squamous cell carcinoma that arises from the ureter.


SEM6D_HUMAN Semaphorin-6D (sprot)

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


Matthew-Wood syndrome

description: Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.


Ecchymosis

description: A purpuric lesion that is larger than 1 cm in diameter.


DAURICINE

A bisbenzylisoquinoline alkaloid resulting from the formal oxidative dimerisation of 4-{[(1R)-6,7-dimethoxy-2-methyl-1,2,3,4-tetrahydroisoquinolin-1-yl]methyl}phenol by attachment of the phenolic oxygen of one molecule to the benzene ring of the second (ortho to the phenolic hydroxy group of the latter).


chronic cervicitis

description: Chronic inflammation of the cervix.


name: AL3B2_HUMAN Aldehyde dehydrogenase family 3 member B2 (sprot)

description: An aldehyde dehydrogenase family 3 member B2 that is encoded in the genome of human.


SANDARACOPIMARIC ACID

A pimarane diterpenoid that is (1S,4aS,4bS,7R,10aS)-1,4a,7-trimethyl-1,2,3,4,4a,4b,5,6,7,9,10,10a-dodecahydrophenanthrene carrying a carboxy group at position 1 and a vinyl group at position 7. It is a natural product found in several plant species.


idiopathic achalasia

description: A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.


BENZENETHIOL

A thiol in which the sulfanyl group is attached to a phenyl group.


constitutional neutropenia

description: A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.


name: obesity due to congenital leptin deficiency

description: Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.


orotic aciduria

description: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.


acetanilide

A member of the class of acetamides that is acetamide in which one of the hydrogens attached to the nitrogen is substituted by a phenyl group.


fludrocortisone acetate

An acetate ester resulting from the formal condensation of the primary hydroxy group of fludrocortisone with acetic acid. A synthetic corticosteroid, it has glucocorticoid actions about 10 times as potent as hydrocortisone, while its mineralocorticoid actions are over 100 times as potent. It is used in partial replacement therapy for primary and secondary adrenocortical insufficiency in Addison's disease and for the treatment of salt-losing adrenal hyperplasia.


name: TBC25_HUMAN TBC1 domain family member 25 (sprot)

description: A TBC1 domain family member 25 that is encoded in the genome of human.


name: cervical intraepithelial neoplasia grade 2/3

description: A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.


triethylamine

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


name: RWDD4_HUMAN RWD domain-containing protein 4 (sprot)

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


name: ZDH19_HUMAN Palmitoyltransferase ZDHHC19 (sprot)

description: A palmitoyltransferase ZDHHC19 that is encoded in the genome of human.


ultra-long-chain fatty acid

Any very long-chain fatty acid which has a chain length greater than C27.


name: CWC25_HUMAN Pre-mRNA-splicing factor CWC25 homolog (sprot)

description: A pre-mRNA-splicing factor CWC25 homolog that is encoded in the genome of human.


guanosine 5'-diphosphate

A  purine ribonucleoside 5'-diphosphate resulting from the formal condensation of the hydroxy group at the 5' position of guanosine with pyrophosphoric acid.


NARP syndrome

description: Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.


name: ARH37_HUMAN Rho guanine nucleotide exchange factor 37 (sprot)

description: A Rho guanine nucleotide exchange factor 37 that is encoded in the genome of human.


medullary breast carcinoma

description: An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.


Gastrointestinal hemorrhage

description: Hemorrhage affecting the gastrointestinal tract.


name: bladder exstrophy-epispadias-cloacal extrophy complex

description: An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.


Drowsiness

description: Abnormal feeling of sleepiness or difficulty staying awake.


Atlantoaxial instability

description: Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.


Intrarenal abscess

description: An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.


CAFESTOL

An organic heteropentacyclic compound and furan diterpenoid with formula C20H28O3 obtained from the unsaponifiable fraction of coffee oil (a lipid fraction obtained from coffee beans by organic solvent extraction).


Nipah virus disease

description: Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.


Small scrotum

description: Apparently small scrotum for age.


name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

description: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


name: CHKB_HUMAN Choline/ethanolamine kinase (sprot)

description: A choline/ethanolamine kinase that is encoded in the genome of human.


retinal vascular disorder

description: Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.


intestinal pseudo-obstruction

description: Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.


name: HS902_HUMAN Heat shock protein HSP 90-alpha A2 (sprot)

description: A heat shock protein HSP 90-alpha A2 that is encoded in the genome of human.


name: acute myeloblastic leukemia without maturation

description: An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)


2-aminonicotinic acid

An aminonicotinic acid in which the amino group is situated at position 2 of the pyridine ring.


name: TMA7_HUMAN Translation machinery-associated protein 7 (sprot)

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


Hypoplastic nipples

description: Underdevelopment of the nipple.


name: IFT20_HUMAN Intraflagellar transport protein 20 homolog (sprot)

description: An intraflagellar transport protein 20 that is encoded in the genome of human.


Freeman-Sheldon syndrome

description: A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.


inflammatory bowel disease 27

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3


cefonicid

A cephalosporin bearing {[1-(sulfomethyl)-1H-tetrazol-5-yl]sulfanyl}methyl and (R)-2-hydroxy-2-phenylacetamido groups at positions 3 and 7, respectively, of the cephem skeleton.


name: S2611_HUMAN Sodium-independent sulfate anion transporter (sprot)

description: A sodium-independent sulfate anion transporter that is encoded in the genome of human.


name: ALDOC_HUMAN Fructose-bisphosphate aldolase C (sprot)

description: A fructose-bisphosphate aldolase C that is encoded in the genome of human.


An androstane-3,17-dione with a 5beta-configuration.


childhood eosinophilic esophagitis

description: An eosinophilic esophagitis that starts in childhood.


athetoid cerebral palsy

description: A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


monosomy

description: A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.


name: ZDH22_HUMAN Palmitoyltransferase ZDHHC22 (sprot)

description: A palmitoyltransferase ZDHHC22 that is encoded in the genome of human.


ORTHOCRESOL

A cresol that is phenol substituted by a methyl group at position 2. It is a minor urinary metabolite of toluene.


name: DGKE_HUMAN Diacylglycerol kinase epsilon (sprot)

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


L-2,4-diaminobutyric acid

A 2,4-diaminobutyric acid that has S-configuration.


acquired generalized lipodystrophy

description: Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).


name: ENPP6_HUMAN Glycerophosphocholine cholinephosphodiesterase ENPP6 (sprot)

description: A glycerophosphocholine cholinephosphodiesterase ENPP6 that is encoded in the genome of human.


name: DEFI8_HUMAN Differentially expressed in FDCP 8 homolog (sprot)

description: A differentially expressed in FDCP 8 that is encoded in the genome of human.


Fryns syndrome

description: Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.


Abnormality of thyroid physiology

description: An abnormal functionality of the thyroid gland.