mediastinal yolk sac tumor

description: An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.


name: RM18_HUMAN Large ribosomal subunit protein uL18m (sprot)

description: A large ribosomal subunit protein uL18m that is encoded in the genome of human.


Chondritis

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

description: Inflammation of cartilage.


name: IDI2_HUMAN Isopentenyl-diphosphate delta-isomerase 2 (sprot)

description: An isopentenyl-diphosphate Delta-isomerase 2 that is encoded in the genome of human.


name: PMFBP_HUMAN Polyamine-modulated factor 1-binding protein 1 (sprot)

description: A polyamine-modulated factor 1-binding protein 1 that is encoded in the genome of human.


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

description: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.


Orthokeratotic hyperkeratosis

description: A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.


name: ARMC6_HUMAN Armadillo repeat-containing protein 6 (sprot)

description: An armadillo repeat-containing protein 6 that is encoded in the genome of human.


name: ZCH13_HUMAN Zinc finger CCHC domain-containing protein 13 (sprot)

description: A zinc finger CCHC domain-containing protein 13 that is encoded in the genome of human.


name: TERB1_HUMAN Telomere repeats-binding bouquet formation protein 1 (sprot)

description: A telomere repeats-binding bouquet formation protein 1 that is encoded in the genome of human.


name: RPA43_HUMAN DNA-directed RNA polymerase I subunit RPA43 (sprot)

description: A DNA-directed RNA polymerase I subunit RPA43 that is encoded in the genome of human.


C10_HUMAN Protein C10 (sprot)

A protein C10 that is encoded in the genome of human.


2,6-DICHLOROISONICOTINIC ACID

A member of the class of pyridines that is isonicotinic acid which is substituted by chlorine at positions 2 and 6.


name: LYRM1_HUMAN LYR motif-containing protein 1 (sprot)

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


fibular hemimelia

description: Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.


name: late infantile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.


A fatty amide obtained by the formal condensation of arachidonic acid with 2-chloroethanamine. It is a potent agonist of the CB1 receptor (Ki = 1.4 nM) and also has a low affinity for the CB2 receptor (Ki = 3100 nM).


vulvovaginitis

description: An inflammatory pathologic process that affects the vulva and the vagina.


name: TRI50_HUMAN E3 ubiquitin-protein ligase TRIM50 (sprot)

description: An E3 ubiquitin-protein ligase TRIM50 that is encoded in the genome of human.


phenylacetyl-CoA

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


name: NKAP_HUMAN NF-kappa-B-activating protein (sprot)

description: An NF-kappa-B-activating protein that is encoded in the genome of human.


name: RDM1_HUMAN RAD52 motif-containing protein 1 (sprot)

description: A RAD52 motif-containing protein 1 that is encoded in the genome of human.


xeroderma pigmentosum group D

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.


name: BPTF_HUMAN Nucleosome-remodeling factor subunit BPTF (sprot)

description: A nucleosome-remodeling factor subunit BPTF that is encoded in the genome of human.


syphilis

description: A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.


ANX10_HUMAN Annexin A10 (sprot)

An annexin A10 that is encoded in the genome of human.


name: F215A_HUMAN Uncharacterized protein FAM215A (sprot)

description: An apoptosis-related protein 2 that is encoded in the genome of human.


SLN14_HUMAN Protein SLFN14 (sprot)

A protein SLFN14 that is encoded in the genome of human.


name: ETFD_HUMAN Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (sprot)

description: An electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial that is encoded in the genome of human.


name: RNF14_HUMAN E3 ubiquitin-protein ligase RNF14 (sprot)

description: An E3 ubiquitin-protein ligase RNF14 that is encoded in the genome of human.


name: CMA1A_HUMAN Ciliary microtubule associated protein 1A (sprot)

description: A ciliary microtubule associated protein 1A that is encoded in the genome of human.


name: GPTC2_HUMAN G patch domain-containing protein 2 (sprot)

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


MCM9_HUMAN DNA helicase MCM9 (sprot)

A DNA helicase MCM9 that is encoded in the genome of human.


name: non-amyloid monoclonal immunoglobulin deposition disease


pneumococcal infection

description: Infections with bacteria of the species streptococcus pneumoniae.


hypotrichosis

description: A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.


name: ZBED3_HUMAN Zinc finger BED domain-containing protein 3 (sprot)

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


name: AIDA_HUMAN Axin interactor, dorsalization-associated protein (sprot)

description: An Axin interactor, dorsalization-associated protein that is encoded in the genome of human.


name: CMTR2_HUMAN Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 (sprot)

description: A cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 that is encoded in the genome of human.


FA72A_HUMAN Protein FAM72A (sprot)

A protein FAM72A that is encoded in the genome of human.


name: UBP51_HUMAN Ubiquitin carboxyl-terminal hydrolase 51 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 51 that is encoded in the genome of human.


name: ICA1L_HUMAN Islet cell autoantigen 1-like protein (sprot)

description: An islet cell autoantigen 1-like protein that is encoded in the genome of human.


A dichlorophenol with the chloro substituents at positions 2 and 5.


myoclonic cerebellar dyssynergia

description: A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)


name: IFT81_HUMAN Intraflagellar transport protein 81 homolog (sprot)

description: An intraflagellar transport protein 81 that is encoded in the genome of human.


Neu-Laxova syndrome

description: Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.


dodecyldimethylamine N-oxide

A tertiary amine oxide resulting from the formal oxidation of the amino group of dodecyldimethylamine.


PIMRE_HUMAN Protein PIMREG (sprot)

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


name: TCTA_HUMAN T-cell leukemia translocation-altered gene protein (sprot)

description: A T-cell leukemia translocation-altered gene protein that is encoded in the genome of human.


spina bifida cystica

description: A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


FBRS_HUMAN Probable fibrosin-1 (sprot)

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


name: PARI_HUMAN PCNA-interacting partner (sprot)

description: A PCNA-interacting partner that is encoded in the genome of human.


allantoate

A monocarboxylic acid anion that is the  conjugate base of allantoic acid.


name: CDKL2_HUMAN Cyclin-dependent kinase-like 2 (sprot)

description: A cyclin-dependent kinase-like 2 that is encoded in the genome of human.


name: SIAH3_HUMAN Seven in absentia homolog 3 (sprot)

description: A seven in absentia homolog 3 that is encoded in the genome of human.


name: PKHF2_HUMAN Pleckstrin homology domain-containing family F member 2 (sprot)

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


description: Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.


name: ZN362_HUMAN Zinc finger protein 362 (sprot)

description: A zinc finger protein 362 that is encoded in the genome of human.


BETA-HEXACHLOROCYCLOHEXANE

The beta-isomer of hexachlorocyclohexane.


IDH-wildtype glioblastoma

description: A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.


name: POP5_HUMAN Ribonuclease P/MRP protein subunit POP5 (sprot)

description: A ribonuclease P/MRP protein subunit POP5 that is encoded in the genome of human.


CO3_HUMAN Complement C3 (sprot)

A complement C3 that is encoded in the genome of human.


name: FBX33_HUMAN F-box only protein 33 (sprot)

description: An F-box only protein 33 that is encoded in the genome of human.


A phenylalkylamine that is benzene in which one of the hydrogens is substituted by a 4-aminobutyl group.


malignant myoepithelioma

description: An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.


name: RAB3D_HUMAN Ras-related protein Rab-3D (sprot)

description: A Ras-related protein Rab-3D that is encoded in the genome of human.


name: COMD9_HUMAN COMM domain-containing protein 9 (sprot)

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


DCC_HUMAN Netrin receptor DCC (sprot)

A netrin receptor DCC that is encoded in the genome of human.


name: PNRC2_HUMAN Proline-rich nuclear receptor coactivator 2 (sprot)

description: A proline-rich nuclear receptor coactivator 2 that is encoded in the genome of human.


name: K1H1_HUMAN Keratin, type I cuticular Ha1 (sprot)

description: A keratin, type I cuticular Ha1 that is encoded in the genome of human.


name: RHG23_HUMAN Rho GTPase-activating protein 23 (sprot)

description: A Rho GTPase-activating protein 23 that is encoded in the genome of human.


name: CDIPT_HUMAN CDP-diacylglycerol--inositol 3-phosphatidyltransferase (sprot)

description: A CDP-diacylglycerol--inositol 3-phosphatidyltransferase that is encoded in the genome of human.


name: RSAD1_HUMAN Radical S-adenosyl methionine domain-containing protein 1, mitochondrial (sprot)

description: A radical S-adenosyl methionine domain-containing protein 1, mitochondrial that is encoded in the genome of human.


name: CAHM1_HUMAN Calcium homeostasis modulator protein 1 (sprot)

description: A calcium homeostasis modulator protein 1 that is encoded in the genome of human.


name: HACD1_HUMAN Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 (sprot)

description: A very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 that is encoded in the genome of human.


name: HACD2_HUMAN Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 (sprot)

description: A very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 that is encoded in the genome of human.


name: BT2A1_HUMAN Butyrophilin subfamily 2 member A1 (sprot)

description: A butyrophilin subfamily 2 member A1 that is encoded in the genome of human.


name: BT2A2_HUMAN Butyrophilin subfamily 2 member A2 (sprot)

description: A butyrophilin subfamily 2 member A2 that is encoded in the genome of human.


name: AKAP6_HUMAN A-kinase anchor protein 6 (sprot)

description: An A-kinase anchor protein 6 that is encoded in the genome of human.


Hyperphosphaturia

description: An increased excretion of phosphates in the urine.


name: CNGA4_HUMAN Cyclic nucleotide-gated channel alpha-4 (sprot)

description: A cyclic nucleotide-gated cation channel alpha-4 that is encoded in the genome of human.


name: G137B_HUMAN Integral membrane protein GPR137B (sprot)

description: An integral membrane protein GPR137B that is encoded in the genome of human.


name: NSUN3_HUMAN tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial (sprot)

description: A tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial that is encoded in the genome of human.


neurogenic bowel

description: Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.


name: FUBP3_HUMAN Far upstream element-binding protein 3 (sprot)

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


name: KMT5C_HUMAN Histone-lysine N-methyltransferase KMT5C (sprot)

description: A histone-lysine N-methyltransferase KMT5C that is encoded in the genome of human.


skull base chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..


stereotypic movement disorder

description: Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)


name: ACSF2_HUMAN Medium-chain acyl-CoA ligase ACSF2, mitochondrial (sprot)

description: A medium-chain acyl-CoA ligase ACSF2, mitochondrial that is encoded in the genome of human.


name: TCPR2_HUMAN Tectonin beta-propeller repeat-containing protein 2 (sprot)

description: A tectonin beta-propeller repeat-containing protein 2 that is encoded in the genome of human.


name: SPT22_HUMAN Spermatogenesis-associated protein 22 (sprot)

description: A spermatogenesis-associated protein 22 that is encoded in the genome of human.


name: RBM19_HUMAN Probable RNA-binding protein 19 (sprot)

description: A probable RNA-binding protein 19 that is encoded in the genome of human.


oculocerebrorenal syndrome

description: Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


QUINIZARIN

A dihydroxyanthraquinone having the two hydroxy substituents at the 1- and 4-positions; formally derived from anthraquinone by replacement of two hydrogen atoms by hydroxy groups


9-hydroxyoctadecadienoic acid

A 9-HODE in which the 9-hydroxy group has S-stereochemistry.


name: DUS19_HUMAN Dual specificity protein phosphatase 19 (sprot)

description: A dual specificity protein phosphatase 19 that is encoded in the genome of human.


name: LIMS2_HUMAN LIM and senescent cell antigen-like-containing domain protein 2 (sprot)

description: A LIM and senescent cell antigen-like-containing domain protein 2 that is encoded in the genome of human.


name: ADA30_HUMAN Disintegrin and metalloproteinase domain-containing protein 30 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 30 that is encoded in the genome of human.


name: pulmonary non-tuberculous mycobacterial infection


2-butenoic acid

A butenoic acid having the double bond at position C-2.


ACEDOBEN

A amidobenzoic acid that consists of benzoic acid bearing an acetamido substituent at position 4.


name: REN3B_HUMAN Regulator of nonsense transcripts 3B (sprot)

description: A regulator of nonsense transcripts 3B that is encoded in the genome of human.


name: 5HT1F_HUMAN 5-hydroxytryptamine receptor 1F (sprot)

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


periventricular nodular heterotopia

description: Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.


corneal endothelial dystrophy

description: A corneal dystrophy (disease) that involves the corneal epithelium.


name: TM9S3_HUMAN Transmembrane 9 superfamily member 3 (sprot)

description: A transmembrane 9 superfamily member 3 that is encoded in the genome of human.


retinitis pigmentosa 9

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.


granular corneal dystrophy type II

description: Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.


isolated dystonia

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


name: SCOC_HUMAN Short coiled-coil protein (sprot)

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


Diskitis

description: Inflammation of an intervertebral disk or disk space.


RRP15_HUMAN RRP15-like protein (sprot)

An RRP15-like protein that is encoded in the genome of human.


name: primary central nervous system vasculitis


Tolosa-Hunt syndrome

description: Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others.


description: Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.


name: PA24C_HUMAN Cytosolic phospholipase A2 gamma (sprot)

description: A cytosolic phospholipase A2 gamma that is encoded in the genome of human.


Arterial stenosis

description: Narrowing or constriction of the inner surface (lumen) of an artery.


name: PIGC_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit C (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit C that is encoded in the genome of human.


Gray matter heterotopia

description: Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.


name: EAA5_HUMAN Excitatory amino acid transporter 5 (sprot)

description: An excitatory amino acid transporter 5 that is encoded in the genome of human.


name: CLC14_HUMAN C-type lectin domain family 14 member A (sprot)

description: A C-type lectin domain family 14 member A that is encoded in the genome of human.


name: KV311_HUMAN Immunoglobulin kappa variable 3-11 (sprot)

description: A protein that is a translation product of the IGKV3-11 gene in human.


name: MYEOV_HUMAN Myeloma-overexpressed gene protein (sprot)

description: A myeloma-overexpressed gene protein that is encoded in the genome of human.


priapism

description: Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.


PALS1_HUMAN Protein PALS1 (sprot)

A protein PALS1 that is encoded in the genome of human.


ulceroglandular tularemia

description: A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.


MGA_HUMAN Maltase-glucoamylase (sprot)

A maltase-glucoamylase that is encoded in the genome of human.


name: PONL1_HUMAN Podocan-like protein 1 (sprot)

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


dyshidrosis

description: A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)


name: TTLL5_HUMAN Tubulin polyglutamylase TTLL5 (sprot)

description: A tubulin polyglutamylase TTLL5 that is encoded in the genome of human.


Lower eyelid edema

description: Edema in the region of the Lower eyelid.


Arts syndrome

description: Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.


acromelic acid A

A pyrrolidinecarboxylic acid that is siolated from the poisonous mushroom Clitocybe amoenolens.


name: CAHM2_HUMAN Calcium homeostasis modulator protein 2 (sprot)

description: A calcium homeostasis modulator protein 2 that is encoded in the genome of human.


name: UTP15_HUMAN U3 small nucleolar RNA-associated protein 15 homolog (sprot)

description: A U3 small nucleolar RNA-associated protein 15 that is encoded in the genome of human.


A nucleoside 5'-diphosphate(3-) arising from deprotonation of all three diphosphate OH groups of adenosine 5'-diphosphate (ADP); major species present at pH 7.3.


TB15B_HUMAN Thymosin beta-15B (sprot)

A thymosin beta-15B that is encoded in the genome of human.


BENOXINATE HYDROCHLORIDE

The monohydrochloride salt of oxybuprocaine.


bis-tris

A buffer substance useful for calibration of glass electrodes and for the preparation of the biochemical and biological buffer solutions; pKa = 6.46 at 25 degreeC.


diffuse panbronchiolitis

description: Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis


helvolic acid

A steroid C-21 acid having a 29-nordammarane skeleton substituted with an acetoxy group at C-16 and oxo groups at C-3 and -7, with double bonds at C-1, -17(20) and -24.


erythema multiforme major

description: A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.


name: KPTN_HUMAN KICSTOR complex protein kaptin (sprot)

description: A KICSTOR complex protein kaptin that is encoded in the genome of human.


angiosarcoma of the scalp

description: Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.


primary localized amyloidosis

description: Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.


PERI_HUMAN Peripherin (sprot)

A peripherin that is encoded in the genome of human.


Thomsen and Becker disease

description: A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).


name: human papillomavirus-related squamous cell carcinoma

description: A squamous cell carcinoma associated with the presence of human papillomavirus infection.


name: SC5AC_HUMAN Sodium-coupled monocarboxylate transporter 2 (sprot)

description: A sodium-coupled monocarboxylate transporter 2 that is encoded in the genome of human.


name: PSMG2_HUMAN Proteasome assembly chaperone 2 (sprot)

description: A proteasome assembly chaperone 2 that is encoded in the genome of human.


name: ZN367_HUMAN Zinc finger protein 367 (sprot)

description: A zinc finger protein 367 that is encoded in the genome of human.


name: RIMB1_HUMAN Peripheral-type benzodiazepine receptor-associated protein 1 (sprot)

description: A peripheral-type benzodiazepine receptor-associated protein 1 that is encoded in the genome of human.


kidney lipoma

description: A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.


CHLORAMINE-T ANHYDROUS

An  organic sodium salt derivative of toluene-4-sulfonamide with a chloro substituent in place of an amino hydrogen.


phacogenic glaucoma

description: Secondary glaucoma caused by either excessive size or spheric shape of the lens.


superficial spreading melanoma

description: A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.


LAMA2-related muscular dystrophy

description: Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.


DEHYDROACETIC ACID

A pyran-2,4-dione substituted at position 3 by an acetyl group and at position 6 by a methyl group. A fungicide and bactericide it is used primarily in processed fruit and vegetables.


name: CHIA_HUMAN Acidic mammalian chitinase (sprot)

description: An acidic mammalian chitinase that is encoded in the genome of human.


GPN1_HUMAN GPN-loop GTPase 1 (sprot)

A GPN-loop GTPase 1 that is encoded in the genome of human.


name: T176B_HUMAN Transmembrane protein 176B (sprot)

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


name: MTFR2_HUMAN Mitochondrial fission regulator 2 (sprot)

description: A protein FAM54A that is encoded in the genome of human.


name: RSBN1_HUMAN Lysine-specific demethylase 9 (sprot)

description: A lysine-specific demethylase 9 that is encoded in the genome of human.


name: CLIC6_HUMAN Chloride intracellular channel protein 6 (sprot)

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


name: CRYM_HUMAN Ketimine reductase mu-crystallin (sprot)

description: A ketimine reductase mu-crystallin that is encoded in the genome of human.


An oxopurine that is xanthine in which the hydrogen attached to the nitrogen at position 7 is replaced by a methyl group. It is an intermediate metabolite in the synthesis of caffeine.


spinal meningioma

description: Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.


malignant struma ovarii

description: An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).


name: ASB11_HUMAN Ankyrin repeat and SOCS box protein 11 (sprot)

description: An ankyrin repeat and SOCS box protein 11 that is encoded in the genome of human.


meningeal melanomatosis

description: A meningeal melanoma with secondary diffuse meningeal spread. (WHO)


sulfur hexafluoride

A sulfur coordination entity consisting of six fluorine atoms attached to a central sulfur atom. It is the most potent greenhouse gas currently known, with a global warming potential of 23,900 times that of CO2 over a 100 year period (SF6 has an estimated lifetime in the atmosphere of between 800 and 3,000 years).


name: HS3S4_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 4 (sprot)

description: A heparan sulfate glucosamine 3-O-sulfotransferase 4 that is encoded in the genome of human.


name: PTTG_HUMAN Pituitary tumor-transforming gene 1 protein-interacting protein (sprot)

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


name: NPY5R_HUMAN Neuropeptide Y receptor type 5 (sprot)

description: A neuropeptide Y receptor type 5 that is encoded in the genome of human.


name: branched-chain keto acid dehydrogenase kinase deficiency

description: A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.


desmoplastic melanoma

description: A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.


A guanosine 5'-phosphate that is 7-methyl-GTP in which the hydroxy group of the terminal phosphate is substituted by a guanosinyl group. It is a cap analog that can be incorporated into mRNA.


syringaresinol

A lignan that is 7,9':7',9-diepoxylignane substituted by hydroxy groups at positions 4 and 4' and methoxy groups at positions 3, 3', 5 and 5' respectively.


FLUORANTHENE

An ortho- and peri-fused polycyclic arene consisting of a naphthalene and benzene unit connected by a five-membered ring.


name: TMM18_HUMAN Transmembrane protein 18 (sprot)

description: A transmembrane protein 18 that is encoded in the genome of human.


Megakaryocyte dysplasia

description: The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.


gastric cardia adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the cardia of stomach.


name: LCN8_HUMAN Epididymal-specific lipocalin-8 (sprot)

description: An epididymal-specific lipocalin-8 that is encoded in the genome of human.


ANDROSTENEDONE

A steroid that consists of androstane having double bonds at positions 1 and 4 and two keto groups at positions 3 and 17.


craniometaphyseal dysplasia

description: Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.


RYR1-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.


velocardiofacial syndrome

description: A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.


name: FXYD6_HUMAN FXYD domain-containing ion transport regulator 6 (sprot)

description: An FXYD domain-containing ion transport regulator 6 that is encoded in the genome of human.


name: RPF2_HUMAN Ribosome production factor 2 homolog (sprot)

description: A ribosome production factor 2 homolog that is encoded in the genome of human.


NGEF_HUMAN Ephexin-1 (sprot)

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


vasoproliferative tumor of retina

description: Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.


umeclidinium bromide

A quaternary ammonium salt that is the bromide salt of umeclidinium. Used in combination with vilanterol for long-term maintenance treatment of airflow obstruction in patients with chronic obstructive pulmonary disease.


severe hemophilia A

description: Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


Single ventricle

description: The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.


name: ZNF10_HUMAN Zinc finger protein 10 (sprot)

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


name: GL8D2_HUMAN Glycosyltransferase 8 domain-containing protein 2 (sprot)

description: A glycosyltransferase 8 domain-containing protein 2 that is encoded in the genome of human.


deficiency of adenosine deaminase 2

description: Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene.


name: BLVRB_HUMAN Flavin reductase (NADPH) (sprot)

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


xylose

An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient.


name: TAF2_HUMAN Transcription initiation factor TFIID subunit 2 (sprot)

description: A transcription initiation factor TFIID subunit 2 that is encoded in the genome of human.


name: RHOH_HUMAN Rho-related GTP-binding protein RhoH (sprot)

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


serous cystadenocarcinoma

description: A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.


name: SDHF1_HUMAN Succinate dehydrogenase assembly factor 1, mitochondrial (sprot)

description: A succinate dehydrogenase assembly factor 1, mitochondrial that is encoded in the genome of human.


Cockayne syndrome type 2

description: Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.


postpoliomyelitis syndrome

description: Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.


apparent mineralocorticoid excess

description: Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.


name: ANGE1_HUMAN Protein angel homolog 1 (sprot)

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


name: RPP30_HUMAN Ribonuclease P protein subunit p30 (sprot)

description: A ribonuclease P protein subunit p30 that is encoded in the genome of human.


chronic closed-angle glaucoma

description: Chronic form of angle-closure glaucoma.


Total anosmia

description: Inability to detect any qualitative olfactory sensation.


hypophosphatemic rickets

description: Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.


FENOTEROL HBR

The hydrobromide salt of fenoterol. A beta2-adrenergic agonist, it is used as a bronchodilator in the management of reversible airway obstruction.


spontaneous periodic hypothermia

description: Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.


name: RM35_HUMAN Large ribosomal subunit protein bL35m (sprot)

description: A large ribosomal subunit protein bL35m that is encoded in the genome of human.


name: C1GLT_HUMAN Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (sprot)

description: A glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 that is encoded in the genome of human.


EUPATORIN

A trimethoxyflavone that is 6-hydroxyluteolin in which the phenolic hydogens at positions 4', 6 and 7 have been replaced by methyl groups.


name: ZMY11_HUMAN Zinc finger MYND domain-containing protein 11 (sprot)

description: A zinc finger MYND domain-containing protein 11 that is encoded in the genome of human.


GAG2A_HUMAN G antigen 2A (sprot)

A G antigen 2A that is encoded in the genome of human.


RIC8A_HUMAN Synembryn-A (sprot)

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


SSPO_HUMAN SCO-spondin (sprot)

A SCO-spondin that is encoded in the genome of human.


galangin

A 7-hydroxyflavonol with additional hydroxy groups at positions 3 and 5 respectively; a growth inhibitor of breast tumor cells.


name: DAAF1_HUMAN Dynein axonemal assembly factor 1 (sprot)

description: A leucine-rich repeat-containing protein 50 that is encoded in the genome of human.


name: ECHD1_HUMAN Ethylmalonyl-CoA decarboxylase (sprot)

description: An ethylmalonyl-CoA decarboxylase that is encoded in the genome of human.


alpha-methylhistamine

An aralkylamino compound that is histamine bearing a methyl substituent at the alpha-position.


name: HTRA4_HUMAN Serine protease HTRA4 (sprot)

description: A serine protease HTRA4 that is encoded in the genome of human.


name: KPBB_HUMAN Phosphorylase b kinase regulatory subunit beta (sprot)

description: A phosphorylase b kinase regulatory subunit beta that is encoded in the genome of human.


name: KLH14_HUMAN Kelch-like protein 14 (sprot)

description: A kelch-like protein 14 that is encoded in the genome of human.


name: STK35_HUMAN Serine/threonine-protein kinase 35 (sprot)

description: A serine/threonine-protein kinase 35 that is encoded in the genome of human.


Aciduria

description: Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


name: primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


name: TM154_HUMAN Transmembrane protein 154 (sprot)

description: A transmembrane protein 154 that is encoded in the genome of human.


eyelid carcinoma

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


Congenital stationary cone dysfunction

description: Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia.


name: TSR3_HUMAN 18S rRNA aminocarboxypropyltransferase (sprot)

description: An 18S rRNA aminocarboxypropyltransferase that is encoded in the genome of human.


name: NRK_HUMAN Nik-related protein kinase (sprot)

description: A Nik-related protein kinase that is encoded in the genome of human.


dutomycin

An anthracycline antibiotic of formula C44H54O17 isolated from Streptomyces species. It directly binds to the human serine protease inhibitor B6 (SERPINB6), inducing autophagy and apoptosis.


name: S12A7_HUMAN Solute carrier family 12 member 7 (sprot)

description: A solute carrier family 12 member 7 that is encoded in the genome of human.


pseudohypoparathyroidism type 1A

description: A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


name: ANR52_HUMAN Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C (sprot)

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


malignant spiradenoma

description: A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.


name: UBCP1_HUMAN Ubiquitin-like domain-containing CTD phosphatase 1 (sprot)

description: A ubiquitin-like domain-containing CTD phosphatase 1 that is encoded in the genome of human.


ulnar-mammary syndrome

description: Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.


name: GBA3_HUMAN Cytosolic beta-glucosidase (sprot)

description: A cytosolic beta-glucosidase that is encoded in the genome of human.


malignant pericardial mesothelioma

description: A rare neoplasm of mesothelial origin that arises from the pericardium.


name: MMP17_HUMAN Matrix metalloproteinase-17 (sprot)

description: A matrix metalloproteinase-17 that is encoded in the genome of human.


cholesteryl palmitate

A cholesterol ester obtained by the formal condensation of cholesterol with palmitic acid.


biotinidase deficiency

description: Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.


name: ALG9_HUMAN Alpha-1,2-mannosyltransferase ALG9 (sprot)

description: An alpha-1,2-mannosyltransferase ALG9 that is encoded in the genome of human.


name: ZBT34_HUMAN Zinc finger and BTB domain-containing protein 34 (sprot)

description: A zinc finger and BTB domain-containing protein 34 that is encoded in the genome of human.


name: MEP1B_HUMAN Meprin A subunit beta (sprot)

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


name: CMTA2_HUMAN Calmodulin-binding transcription activator 2 (sprot)

description: A calmodulin-binding transcription activator 2 that is encoded in the genome of human.


Any O-acylcarnitine in which the acyl group contains a total of 5 carbon atoms.


papillary serous cystadenocarcinoma

description: A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.


name: BTNL8_HUMAN Butyrophilin-like protein 8 (sprot)

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


name: IPPK_HUMAN Inositol-pentakisphosphate 2-kinase (sprot)

description: An inositol-pentakisphosphate 2-kinase that is encoded in the genome of human.


optic nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.


name: STRP1_HUMAN Striatin-interacting protein 1 (sprot)

description: A protein FAM40A that is encoded in the genome of human.


name: TPMT_HUMAN Thiopurine S-methyltransferase (sprot)

description: A thiopurine S-methyltransferase that is encoded in the genome of human.


cervical neuroblastoma

description: A relatively uncommon neuroblastoma that is found in the neck.


infantile myofibromatosis

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


name: IGHA1_HUMAN Immunoglobulin heavy constant alpha 1 (sprot)

description: An immunoglobulin heavy constant alpha 1 that is encoded in the genome of human.


name: PCBP4_HUMAN Poly(rC)-binding protein 4 (sprot)

description: A poly(rC)-binding protein 4 that is encoded in the genome of human.


N-acetyl-D-penicillamine

An N-acetyl-D-amino acid where the amino acid is D-penicillamine


PTMS_HUMAN Parathymosin (sprot)

A parathymosin that is encoded in the genome of human.


HYDANTOIN

An imidazolidinone with oxo groups at position 2 and 4.


tubular adenoma

description: A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.


PHF7_HUMAN PHD finger protein 7 (sprot)

A PHD finger protein 7 that is encoded in the genome of human.


name: COMD8_HUMAN COMM domain-containing protein 8 (sprot)

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


Open neural tube defect

description: A type of neural tube defect that is not covered by skin.


name: PNCB_HUMAN Nicotinate phosphoribosyltransferase (sprot)

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


glyoxylate

The conjugate base of glyoxylic acid.


name: DRC11_HUMAN Dynein regulatory complex protein 11 (sprot)

description: A dynein regulatory complex protein 11 that is encoded in the genome of human.


SEM5B_HUMAN Semaphorin-5B (sprot)

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


name: CLOCK_HUMAN Circadian locomoter output cycles protein kaput (sprot)

description: A circadian locomoter output cycles protein kaput that is encoded in the genome of human.


name: vitamin K deficiency hemorrhagic disease

description: Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.


name: DYL2_HUMAN Dynein light chain 2, cytoplasmic (sprot)

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


acetylcholine bromide

The bromide salt of acetylcholine.


name: INKA1_HUMAN PAK4-inhibitor INKA1 (sprot)

description: A PAK4-inhibitor INKA1 that is encoded in the genome of human.


Calvarial skull defect

description: A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.


name: RBY1D_HUMAN RNA-binding motif protein, Y chromosome, family 1 member D (sprot)

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


desirudin

A heterodetic cyclic peptide composed of 65 amino acids joined in sequence and cyclised by three disulfide bridges between cysteine residues 6-14, 16-28 and 22-39. It is a highly specific inhibitor of thrombin and used as an anticoagulant in patients to prevent venous thromboembolism. Its amino acid sequence differs from natural hirudin by lack of sulfate group on Tyr-63.


Oroya fever

description: An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.


Kyasanur forest disease

description: Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.


name: ESYT1_HUMAN Extended synaptotagmin-1 (sprot)

description: An extended synaptotagmin-1 that is encoded in the genome of human.


glyceric acid

A trionic acid that consists of propionic acid substituted at positions 2 and 3 by hydroxy groups.


acute cholangitis

description: Cholangitis that is both sudden in onset and of a relatively short duration.


name: BSSP4_HUMAN Brain-specific serine protease 4 (sprot)

description: A brain-specific serine protease 4 that is encoded in the genome of human.


name: ONEC3_HUMAN One cut domain family member 3 (sprot)

description: An one cut domain family member 3 that is encoded in the genome of human.


TMOD2_HUMAN Tropomodulin-2 (sprot)

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


ovarian lymphoma

description: A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.


name: SUCHY_HUMAN Succinate--hydroxymethylglutarate CoA-transferase (sprot)

description: An acetyl-CoA:oxalate CoA-transferase that is encoded in the genome of human.


name: NDUC1_HUMAN NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial that is encoded in the genome of human.


A dihydropyridine that is 2,4,6-trimethyl-1,4-dihydropyridine substituted by ethoxycarbonyl groups at positions 3 and 5.


PRTG_HUMAN Protogenin (sprot)

A protogenin that is encoded in the genome of human.


glomangioma

description: A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.


fasciitis

description: Inflammation process in fascia.


name: OR1G1_HUMAN Olfactory receptor 1G1 (sprot)

description: An olfactory receptor 1G1 that is encoded in the genome of human.


TNPO3_HUMAN Transportin-3 (sprot)

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


name: IGS21_HUMAN Immunoglobulin superfamily member 21 (sprot)

description: An immunoglobulin superfamily member 21 that is encoded in the genome of human.


CAPR1_HUMAN Caprin-1 (sprot)

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


name: poly(ethylene glycol) methyl ether methacrylate

description: A poly(ethylene glycol) compound having a methacrylate group at the alpha-terminus and a methyl group at the omega-terminus.


name: SLF1_HUMAN SMC5-SMC6 complex localization factor protein 1 (sprot)

description: An SMC5-SMC6 complex localization factor protein 1 that is encoded in the genome of human.


TSN14_HUMAN Tetraspanin-14 (sprot)

A tetraspanin-14 that is encoded in the genome of human.


triple-A syndrome

description: Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


name: ZFYV9_HUMAN Zinc finger FYVE domain-containing protein 9 (sprot)

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


endometrioid tumor

description: A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


bilateral polymicrogyria

description: Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


name: RNZ1_HUMAN Zinc phosphodiesterase ELAC protein 1 (sprot)

description: A zinc phosphodiesterase ELAC protein 1 that is encoded in the genome of human.


name: infantile convulsions and choreoathetosis

description: A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.


name: OGT1_HUMAN UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit (sprot)

description: A UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit that is encoded in the genome of human.


CFAI_HUMAN Complement factor I (sprot)

A complement factor I that is encoded in the genome of human.


OBSCN_HUMAN Obscurin (sprot)

An obscurin that is encoded in the genome of human.


ovarian embryonal carcinoma

description: An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.


name: ZBT46_HUMAN Zinc finger and BTB domain-containing protein 46 (sprot)

description: A zinc finger and BTB domain-containing protein 46 that is encoded in the genome of human.


Paroxysmal dyspnea

description: A sudden attack of dyspnea that occurs while the affected person is at rest.


name: TRM61_HUMAN tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A (sprot)

description: A tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61A that is encoded in the genome of human.


SALICYLHYDROXAMIC ACID

A hydroxamic acid that is N-hydroxybenzamide carrying a phenolic hydroxy group at position 2.


flavoxate

A carboxylic ester resulting from the formal condensation of 3-methylflavone-8-carboxylic acid with 2-(1-piperidinyl)ethanol.


name: TRIL_HUMAN TLR4 interactor with leucine rich repeats (sprot)

description: A TLR4 interactor with leucine rich repeats that is encoded in the genome of human.


MECHLORETHAMINE HYDROCHLORIDE

The hydrochloride salt of mechlorethamine.


name: RSH6A_HUMAN Radial spoke head protein 6 homolog A (sprot)

description: A radial spoke head protein 6 homolog A that is encoded in the genome of human.


EMIVIRINE

A pyrimidone that is uracil which is substituted at positions 1, 5 and 6 by ethoxymethyl, isopropyl, and benzyl groups, respectively. A non-nucleoside inhibitor of HIV-1 reverse transcriptase, emivirine was an unsuccessful experimental agent for the treatment of HIV.


periodontitis, aggressive 1

description: A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.


CAH9_HUMAN Carbonic anhydrase 9 (sprot)

A carbonic anhydrase 9 that is encoded in the genome of human.


name: RSLAA_HUMAN Ras-like protein family member 10A (sprot)

description: A Ras-like protein family member 10A that is encoded in the genome of human.


TICN2_HUMAN Testican-2 (sprot)

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


FA5_HUMAN Coagulation factor V (sprot)

A coagulation factor V that is encoded in the genome of human.


name: non-functioning pituitary gland neoplasm

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


Hyperglutaminemia

description: An increased concentration of glutamine in the blood.


campylobacteriosis

description: Infections with bacteria of the genus campylobacter.


Motor deterioration

description: Loss of previously present motor (i.e., movement) abilities.


name: TTLL2_HUMAN Probable tubulin polyglutamylase TTLL2 (sprot)

description: A probable tubulin polyglutamylase TTLL2 that is encoded in the genome of human.


name: TCEA2_HUMAN Transcription elongation factor A protein 2 (sprot)

description: A transcription elongation factor A protein 2 that is encoded in the genome of human.


name: BAIP3_HUMAN BAI1-associated protein 3 (sprot)

description: A BAI1-associated protein 3 that is encoded in the genome of human.


name: DPOLM_HUMAN DNA-directed DNA/RNA polymerase mu (sprot)

description: A DNA-directed DNA/RNA polymerase mu that is encoded in the genome of human.


name: SENP5_HUMAN Sentrin-specific protease 5 (sprot)

description: A sentrin-specific protease 5 that is encoded in the genome of human.


name: INT5_HUMAN Integrator complex subunit 5 (sprot)

description: An integrator complex subunit 5 that is encoded in the genome of human.


name: DHX36_HUMAN ATP-dependent DNA/RNA helicase DHX36 (sprot)

description: An ATP-dependent DNA/RNA helicase DHX36 that is encoded in the genome of human.


name: RAB17_HUMAN Ras-related protein Rab-17 (sprot)

description: A Ras-related protein Rab-17 that is encoded in the genome of human.


Abnormal myelination

description: Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


Joubert syndrome

description: Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.


name: peripheral primitive neuroectodermal tumor

description: A small round cell tumor with neural differentiation arising from the soft tissues or bone.


name: TGM3_HUMAN Protein-glutamine gamma-glutamyltransferase E (sprot)

description: A protein-glutamine gamma-glutamyltransferase E that is encoded in the genome of human.


name: SF3A1_HUMAN Splicing factor 3A subunit 1 (sprot)

description: A splicing factor 3 subunit 1 that is encoded in the genome of human.


name: TSG10_HUMAN Testis-specific gene 10 protein (sprot)

description: A testis-specific gene 10 protein that is encoded in the genome of human.


necrotizing gastritis

description: A variant of phlegmonous gastritis, typically progressing to gastric gangrene.


name: IKBB_HUMAN NF-kappa-B inhibitor beta (sprot)

description: An NF-kappa-B inhibitor beta that is encoded in the genome of human.


name: SPIR1_HUMAN Protein spire homolog 1 (sprot)

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


name: RES18_HUMAN Regulated endocrine-specific protein 18 (sprot)

description: A regulated endocrine-specific protein 18 that is encoded in the genome of human.


beta-carboline

The parent compound of the beta-carbolines, a tricyclic structure comprising an indole ring system ortho- fused to C-3 and C-4 of a pyridine ring.


human herpesvirus 8 infection

description: An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.


hereditary motor neuron disease

description: An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.


giant papillary conjunctivitis

description: Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.


A quinoline that is 1,2-dihydroquinoline bearing three methyl substituents at position 2, 2 and 4 as well as an ethoxy substituent at position 6.


Chronic tubulointerstitial nephritis

description: Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.


name: KLHL9_HUMAN Kelch-like protein 9 (sprot)

description: A kelch-like protein 9 that is encoded in the genome of human.


Pathologic fracture

description: A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.


name: TA2R9_HUMAN Taste receptor type 2 member 9 (sprot)

description: A taste receptor type 2 member 9 that is encoded in the genome of human.


eupatin

A trimethoxyflavone that is quercetagetin methylated at positions 4', 6 and 7.


name: ANS1A_HUMAN Ankyrin repeat and SAM domain-containing protein 1A (sprot)

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


CNS hypomyelination

description: Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.


name: CLM9_HUMAN CMRF35-like molecule 9 (sprot)

description: A CMRF35-like molecule 9 that is encoded in the genome of human.


SSX4_HUMAN Protein SSX4 (sprot)

A protein SSX4 that is encoded in the genome of human.


name: PPIC_HUMAN Peptidyl-prolyl cis-trans isomerase C (sprot)

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


name: multiple acyl-CoA dehydrogenase deficiency

description: A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.


name: multiple system atrophy, cerebellar type

description: Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).


Oligosacchariduria

description: Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.


name: OR1A1_HUMAN Olfactory receptor 1A1 (sprot)

description: An olfactory receptor 1A1 that is encoded in the genome of human.


HEMATEIN

An organic heterotetracyclic compound that is -6a,7-dihydrobenzo[b]indeno[1,2-d]pyran-9-one carrying four hydroxy substituents at positions 3, 4, 6a and 10.


name: AT132_HUMAN Polyamine-transporting ATPase 13A2 (sprot)

description: A polyamine-transporting ATPase 13A2 that is encoded in the genome of human.


pancreatic acinar cell carcinoma

description: An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.


name: TDRD5_HUMAN Tudor domain-containing protein 5 (sprot)

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


cyanoacetic acid

A monocarboxylic acid that consists of acetic acid bearing a cyano substituent.


name: PPAT_HUMAN Testicular acid phosphatase (sprot)

description: A testicular acid phosphatase that is encoded in the genome of human.


name: GCYA2_HUMAN Guanylate cyclase soluble subunit alpha-2 (sprot)

description: A guanylate cyclase soluble subunit alpha-2 that is encoded in the genome of human.


name: FDSCP_HUMAN Follicular dendritic cell secreted peptide (sprot)

description: A follicular dendritic cell secreted peptide that is encoded in the genome of human.


reproductive system neoplasm

description: A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.


name: methylmalonic aciduria and homocystinuria

description: An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).


name: GHITM_HUMAN Growth hormone-inducible transmembrane protein (sprot)

description: A growth hormone-inducible transmembrane protein that is encoded in the genome of human.


nephrogenic adenoma of urinary bladder

description: A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.


cidofovir dihydrate

The dihydrate of the anhydrous form of cidofovir. A nucleoside analogue, it is an injectable antiviral used for the treatment of cytomegalovirus (CMV) retinitis in AIDS patients.


AICA-ribosiduria

description: AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


name: AP4E1_HUMAN AP-4 complex subunit epsilon-1 (sprot)

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


name: GATA2 deficiency with susceptibility to MDS/AML

description: A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).


mediastinal germ cell tumor

description: A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.


hydrocortisone butyrate

Cortisol esterified with butyric acid at the 17-hydroxy group.


Hyposthenuria

description: An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.


name: PUR2_HUMAN Trifunctional purine biosynthetic protein adenosine-3 (sprot)

description: A trifunctional purine biosynthetic protein adenosine-3 that is encoded in the genome of human.


cervical polyp

description: A polyp that arises from the surface of the cervix.


RABL3_HUMAN Rab-like protein 3 (sprot)

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


name: PJA2_HUMAN E3 ubiquitin-protein ligase Praja-2 (sprot)

description: An E3 ubiquitin-protein ligase Praja-2 that is encoded in the genome of human.


benoxaprofen

A monocarboxylic acid that is propionic acid substituted at position 2 by a 2-(4-chlorophenyl)-1,3-benzoxazol-5-yl group. It was used as a non-steroidal anti-inflammatory drug until 1982 when it was withdrawn from the market due to adverse side-effects including liver necrosis, photosensitivity, and carcinogenicity in animals.


A member of the class of chloroethanes substituted by two chloro groups at positions 1 and 2.


(S,S)-formoterol

An N-[2-hydroxy-5-(1-hydroxy-2-{[1-(4-methoxyphenyl)propan-2-yl]amino}ethyl)phenyl]formamide in which both of the stereocentres have S configuration.


name: TBA3C_HUMAN Tubulin alpha-3C chain (sprot)

description: A tubulin alpha-3 chain (human) that is a translation product of the TUBA3C gene in human.


name: EPG5_HUMAN Ectopic P granules protein 5 homolog (sprot)

description: An ectopic P granules protein 5 homolog that is encoded in the genome of human.


name: CE192_HUMAN Centrosomal protein of 192 kDa (sprot)

description: A centrosomal protein of 192 kDa that is encoded in the genome of human.


Short attention span

description: Reduced attention span characterized by distractibility and impulsivity.


name: ARM10_HUMAN Armadillo repeat-containing protein 10 (sprot)

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


malignant biphasic mesothelioma

description: A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.


Peutz-Jeghers syndrome

description: Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.


EPN2_HUMAN Epsin-2 (sprot)

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


name: GD1L1_HUMAN Ganglioside-induced differentiation-associated protein 1-like 1 (sprot)

description: A ganglioside-induced differentiation-associated protein 1-like 1 that is encoded in the genome of human.


name: SCMC2_HUMAN Mitochondrial adenyl nucleotide antiporter SLC25A25 (sprot)

description: A mitochondrial adenyl nucleotide antiporter SLC25A25 that is encoded in the genome of human.


name: HNRPM_HUMAN Heterogeneous nuclear ribonucleoprotein M (sprot)

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


name: APLF_HUMAN Aprataxin and PNK-like factor (sprot)

description: An aprataxin and PNK-like factor that is encoded in the genome of human.


name: OR3A4_HUMAN Putative olfactory receptor 3A4 (sprot)

description: A putative olfactory receptor 3A4 that is encoded in the genome of human.


name: HSDL1_HUMAN Inactive hydroxysteroid dehydrogenase-like protein 1 (sprot)

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


benzenesulfonic acid

The simplest member of the class of a benzenesulfonic acids that consists of a benzene carrying a single sulfo group.


TOR1B_HUMAN Torsin-1B (sprot)

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


name: CK2N2_HUMAN Calcium/calmodulin-dependent protein kinase II inhibitor 2 (sprot)

description: A calcium/calmodulin-dependent protein kinase II inhibitor 2 that is encoded in the genome of human.


extensively drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.


cycloplegia

description: Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.


Hypoplasia of the nasal bone

description: Underdevelopment of the nasal bone.


name: CO9A1_HUMAN Collagen alpha-1(IX) chain (sprot)

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


A monocarboxylic acid amide obtained by formal condensation of the carboxy group of 5-(dimethylamino)pentanoic acid with the aromatic amino group of N-[(4-aminophenyl)carbamothioyl]-4-tert-butylbenzamide.


reading disorder

description: A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.


UBN2_HUMAN Ubinuclein-2 (sprot)

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


name: RHGBB_HUMAN Inactive Rho GTPase-activating protein 11B (sprot)

description: A Rho GTPase-activating protein 11B that is encoded in the genome of human.


name: NAR3_HUMAN Ecto-ADP-ribosyltransferase 3 (sprot)

description: An ecto-ADP-ribosyltransferase 3 that is encoded in the genome of human.


name: NT5C_HUMAN 5'(3')-deoxyribonucleotidase, cytosolic type (sprot)

description: A 5'(3')-deoxyribonucleotidase, cytosolic type that is encoded in the genome of human.


name: TEFM_HUMAN Transcription elongation factor, mitochondrial (sprot)

description: A transcription elongation factor, mitochondrial that is encoded in the genome of human.


name: COMD3_HUMAN COMM domain-containing protein 3 (sprot)

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


THIOPHENE CARBOXYLIC ACID

A thiophenecarboxylic acid in which the carboxy group is located at position 2.


Retinal astrocytic hamartoma

description: A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.


spinal chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.


allantoic acid

A member of the class of  ureas that consists of acetic acid in which the two methyl hydrogens are replaced by carbamoylamino groups respectively.


name: CANB2_HUMAN Calcineurin subunit B type 2 (sprot)

description: A calcineurin subunit B type 2 that is encoded in the genome of human.


THEM6_HUMAN Protein THEM6 (sprot)

A UPF0670 protein THEM6 that is encoded in the genome of human.


name: NAT8L_HUMAN N-acetylaspartate synthetase (sprot)

description: An N-acetylaspartate synthetase that is encoded in the genome of human.


gallbladder adenoma

description: A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.


name: HIG2A_HUMAN HIG1 domain family member 2A, mitochondrial (sprot)

description: A HIG1 domain family member 2A that is encoded in the genome of human.


Leri-Weill dyschondrosteosis

description: Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.


KRI1_HUMAN Protein KRI1 homolog (sprot)

A protein KRI1 that is encoded in the genome of human.


name: TOX_HUMAN Thymocyte selection-associated high mobility group box protein TOX (sprot)

description: A thymocyte selection-associated high mobility group box protein TOX that is encoded in the genome of human.


CCNQ_HUMAN Cyclin-Q (sprot)

A cyclin-Q that is encoded in the genome of human.


DPDPE

A heterodetic cyclic peptide that is a cyclic enkephalin analogue, having D-penicillaminyl residues located at positions 2 and 5, which form the heterocycle via a disulfide bond.


name: POMT1_HUMAN Protein O-mannosyl-transferase 1 (sprot)

description: A protein O-mannosyl-transferase 1 that is encoded in the genome of human.


name: POMT2_HUMAN Protein O-mannosyl-transferase 2 (sprot)

description: A protein O-mannosyl-transferase 2 that is encoded in the genome of human.


lymphocyte antigen 75 isoform 4 (human)

A lymphocyte antigen 75 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60449-1.


name: GIPR_HUMAN Gastric inhibitory polypeptide receptor (sprot)

description: A gastric inhibitory polypeptide receptor that is encoded in the genome of human.


name: SC6A6_HUMAN Sodium- and chloride-dependent taurine transporter (sprot)

description: A sodium- and chloride-dependent taurine transporter that is encoded in the genome of human.


Unusual infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.


name: HBE_HUMAN Hemoglobin subunit epsilon (sprot)

description: A hemoglobin subunit epsilon that is encoded in the genome of human.


name: SPAS1_HUMAN Spermatogenesis-associated serine-rich protein 1 (sprot)

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


aureobasidin A

A cyclodepsipeptide antibiotic, which is isolated from the filamentous fungus Aureobasidium pullulans R106 and is toxic to yeast at low concentrations (0.1-0.5 ug/ml).


squaric acid

A carbon oxoacid that consists of 1,2-diketocyclobut-3-ene bearing two enolic hydroxy substituents at positions 3 and 4.


hypertropia

description: Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.


name: DDX42_HUMAN ATP-dependent RNA helicase DDX42 (sprot)

description: An ATP-dependent RNA helicase DDX42 that is encoded in the genome of human.


name: FABP9_HUMAN Fatty acid-binding protein 9 (sprot)

description: A fatty acid-binding protein 9 that is encoded in the genome of human.


name: TPPC8_HUMAN Trafficking protein particle complex subunit 8 (sprot)

description: A trafficking protein particle complex subunit 8 that is encoded in the genome of human.


supravalvular aortic stenosis

description: SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.


pancreatoblastoma

description: Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.


name: CKLF1_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 1 (sprot)

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


name: S43A3_HUMAN Equilibrative nucleobase transporter 1 (sprot)

description: An equilibrative nucleobase transporter 1 that is encoded in the genome of human.


name: BRWD1_HUMAN Bromodomain and WD repeat-containing protein 1 (sprot)

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


cystinosis

description: Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.


Recurrent meningitis

description: An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.


name: ZDBF2_HUMAN DBF4-type zinc finger-containing protein 2 (sprot)

description: A DBF4-type zinc finger-containing protein 2 that is encoded in the genome of human.


name: SLX9_HUMAN Ribosome biogenesis protein SLX9 homolog (sprot)

description: A ribosome biogenesis protein SLX9 homolog that is encoded in the genome of human.


lymphangiectasis

description: Dilatation of the lymphatic vessels.


canine mammary adenoma

description: An adenoma arising from the mammary gland of a dog.


name: BID_HUMAN BH3-interacting domain death agonist (sprot)

description: A BH3-interacting domain death agonist that is encoded in the genome of human.


tinea pedis

description: Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.


name: ODPAT_HUMAN Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial (sprot)

description: A pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial that is encoded in the genome of human.


name: 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A (sprot)

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


name: S26A9_HUMAN Solute carrier family 26 member 9 (sprot)

description: A solute carrier family 26 member 9 that is encoded in the genome of human.


name: CHSTC_HUMAN Carbohydrate sulfotransferase 12 (sprot)

description: A carbohydrate sulfotransferase 12 that is encoded in the genome of human.


name: DDX25_HUMAN ATP-dependent RNA helicase DDX25 (sprot)

description: An ATP-dependent RNA helicase DDX25 that is encoded in the genome of human.


name: RHCE_HUMAN Blood group Rh(CE) polypeptide (sprot)

description: A blood group Rh(CE) polypeptide that is encoded in the genome of human.


PRPH2_HUMAN Peripherin-2 (sprot)

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


name: MO2R2_HUMAN Cell surface glycoprotein CD200 receptor 2 (sprot)

description: A cell surface glycoprotein CD200 receptor 2 that is encoded in the genome of human.


name: KCNK4_HUMAN Potassium channel subfamily K member 4 (sprot)

description: A potassium channel subfamily K member 4 that is encoded in the genome of human.


1,4-dihydroxy-2-naphthoic acid

A naphthoic acid that is 2-naphthoic acid substituted by hydroxy groups at positions 1 and 4.


name: LIPC_HUMAN Hepatic triacylglycerol lipase (sprot)

description: A hepatic triacylglycerol lipase that is encoded in the genome of human.


name: ACY3_HUMAN N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) (sprot)

description: An N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming that is encoded in the genome of human.


neonatal thrombocytopenia

description: A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.


name: ANR50_HUMAN Ankyrin repeat domain-containing protein 50 (sprot)

description: An ankyrin repeat domain-containing protein 50 that is encoded in the genome of human.


name: PO3F3_HUMAN POU domain, class 3, transcription factor 3 (sprot)

description: A POU domain, class 3, transcription factor 3 that is encoded in the genome of human.


GO45_HUMAN Golgin-45 (sprot)

A golgin-45 that is encoded in the genome of human.


description: A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.


name: EMAL5_HUMAN Echinoderm microtubule-associated protein-like 5 (sprot)

description: An echinoderm microtubule-associated protein-like 5 that is encoded in the genome of human.


name: CSPG2_HUMAN Versican core protein (sprot)

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


name: AVPI1_HUMAN Arginine vasopressin-induced protein 1 (sprot)

description: An arginine vasopressin-induced protein 1 that is encoded in the genome of human.


name: IFT52_HUMAN Intraflagellar transport protein 52 homolog (sprot)

description: An intraflagellar transport protein 52 that is encoded in the genome of human.


name: PAQR5_HUMAN Membrane progestin receptor gamma (sprot)

description: A membrane progestin receptor gamma that is encoded in the genome of human.


Severe postnatal growth retardation

description: Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.


episodic ataxia type 1

description: Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.


name: SACA3_HUMAN Sperm acrosome membrane-associated protein 3 (sprot)

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


name: SYNG1_HUMAN Synapse differentiation-inducing gene protein 1 (sprot)

description: A synapse differentiation-inducing gene protein 1 that is encoded in the genome of human.


endocrine gland neoplasm

description: A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.


CP4V2_HUMAN Cytochrome P450 4V2 (sprot)

A cytochrome P450 4V2 that is encoded in the genome of human.


name: FBX41_HUMAN F-box only protein 41 (sprot)

description: An F-box only protein 41 that is encoded in the genome of human.


name: SPE39_HUMAN Spermatogenesis-defective protein 39 homolog (sprot)

description: A spermatogenesis-defective protein 39 homolog that is encoded in the genome of human.


penis carcinoma in situ

description: A in situ carcinoma that involves the penis.


polycystic kidney disease 2

description: Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.


name: UQCC1_HUMAN Ubiquinol-cytochrome c reductase complex assembly factor 1 (sprot)

description: A ubiquinol-cytochrome c reductase complex assembly factor 1 that is encoded in the genome of human.


name: AROS_HUMAN Active regulator of SIRT1 (sprot)

description: An active regulator of SIRT1 that is encoded in the genome of human.


XPO4_HUMAN Exportin-4 (sprot)

An exportin-4 that is encoded in the genome of human.


Nail-biting

description: Habitual biting of one's own fingernails.


CLENBUTEROL HYDROCHLORIDE

A hydrochloride that is the monohydrochloride salt of clenbuterol.


CHLORHEXIDINE DIACETATE

The acetate salt of chlorhexidine. It is a disinfectant used for bacterial control in hospital, agricultural and domestic environments.


name: TRGV9_HUMAN T cell receptor gamma variable 9 (sprot)

description: A protein that is a translation product of the TRGV9 gene in human.


SRR1L_HUMAN SRR1-like protein (sprot)

An SRR1-like protein that is encoded in the genome of human.


name: FNIP2_HUMAN Folliculin-interacting protein 2 (sprot)

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


prasugrel hydrochloride

A racemate comprising equal amounts of (R)- and (S)-prasugrel hydrochloride. Used to prevent blood clots in people with acute coronary syndrome who are undergoing a procedure after a recent heart attack or stroke, and in people with certain disorders of the heart or blood vessels.


limited cutaneous systemic sclerosis

description: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.


DIHYDRORESVERATROL

A stilbenol that is 1,1'-ethane-1,2-diyldibenzene with hydroxy groups at positions 1, 3 and 4'.


ectodermal dysplasia syndrome

description: The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.


name: TRNP1_HUMAN TMF-regulated nuclear protein 1 (sprot)

description: A TMF-regulated nuclear protein that is encoded in the genome of human.


name: KCD16_HUMAN BTB/POZ domain-containing protein KCTD16 (sprot)

description: A BTB/POZ domain-containing protein KCTD16 that is encoded in the genome of human.


Pseudophakia

description: The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).


name: APMAP_HUMAN Adipocyte plasma membrane-associated protein (sprot)

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


DIAZEPINOMICIN

A dibenzodiazepine with a farnesyl sidechain synthesized by Micromonospora sp.. It has a potent activity against a broad spectrum of tumor cell lines.


pseudohypoparathyroidism

description: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).


heart sarcoma

description: A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.


familial hypocalciuric hypercalcemia 2

description: A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


name: simian acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus.


STREPTONIGRIN

Complex cytotoxic antibiotic obtained from Streptomyces flocculus or S. rufochronmogenus. It is used in advanced carcinoma and causes leukopenia.


Acute phase response

description: Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.


ANO3_HUMAN Anoctamin-3 (sprot)

An anoctamin-3 that is encoded in the genome of human.


A retinal in which the double bond at position 9 has cis configuration, whilst the remaining acyclic double bonds have trans configuration.


Infantile muscular hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.


cellulose acetate

A glucan derivative obtained through the esterification of cellulose by acetic anhydride or acetic acid, resulting in the substitution of some of the hydroxy groups of cellulose by acetyl groups. It is used in a variety of applications including base material for photographic film, clothing, membrane filters, coatings, food packaging, and as a frame material for eyeglasses.


facial paralysis

description: Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.


ethanesulfonic acid

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


mixed glioma

description: A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).


clear cell acanthoma

description: An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.


name: BTNL3_HUMAN Butyrophilin-like protein 3 (sprot)

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


Charcot-Marie-Tooth disease type 2A1

description: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.


name: DDA1_HUMAN DET1- and DDB1-associated protein 1 (sprot)

description: A DET1- and DDB1-associated protein 1 that is encoded in the genome of human.


name: TXND2_HUMAN Thioredoxin domain-containing protein 2 (sprot)

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


hydroxyacetone

A propanone that is acetone in which one of the methyl hydrogens is replaced by a hydroxy group.


name: CTL3_HUMAN Choline transporter-like protein 3 (sprot)

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


name: RM46_HUMAN Large ribosomal subunit protein mL46 (sprot)

description: A large ribosomal subunit protein mL46 that is encoded in the genome of human.


Vaginal clear cell adenocarcinoma

description: A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.


name: CDC26_HUMAN Anaphase-promoting complex subunit CDC26 (sprot)

description: An anaphase-promoting complex subunit CDC26 that is encoded in the genome of human.


pyomyositis

description: Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.


name: TATD1_HUMAN Deoxyribonuclease TATDN1 (sprot)

description: A deoxyribonuclease TATDN1 that is encoded in the genome of human.