intracranial hypotension

description: Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)


name: DHRS4_HUMAN Dehydrogenase/reductase SDR family member 4 (sprot)

description: A dehydrogenase/reductase SDR family member 4 that is encoded in the genome of human.


MYO3A_HUMAN Myosin-IIIa (sprot)

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


MYO3B_HUMAN Myosin-IIIb (sprot)

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


hereditary hyperekplexia

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

description: Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.


granulomatous mastitis

description: A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.


central retinal vein occlusion

description: Blockage of the central retinal vein.


chronic progressive multiple sclerosis

description: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)


name: TDIF2_HUMAN Deoxynucleotidyltransferase terminal-interacting protein 2 (sprot)

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


name: GPR87_HUMAN G-protein coupled receptor 87 (sprot)

description: A G-protein coupled receptor 87 that is encoded in the genome of human.


pityriasis rosea

description: A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.


Lewis-Sumner syndrome

description: A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.


ataxic cerebral palsy

description: A form of cerebral palsy caused by damage to cerebellar structures.


name: precursor B-cell acute lymphoblastic leukemia

description: The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)


testis refractory cancer

description: Malignant testicular germ cell tumor that is resistant to treatment.


name: LHX9_HUMAN LIM/homeobox protein Lhx9 (sprot)

description: A LIM/homeobox protein Lhx9 that is encoded in the genome of human.


name: FUT5_HUMAN 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 (sprot)

description: A 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 that is encoded in the genome of human.


non-small cell squamous lung carcinoma

description: A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.


butalbital

A member of the class of  barbiturates that is barbituric acid in which the hydrogens at position 5 are substituted by an allyl group and an isobutyl group. Frequently combined with other medicines, such as aspirin, paracetamol and codeine, it is used for treatment of pain and headache.


name: INT11_HUMAN Integrator complex subunit 11 (sprot)

description: An integrator complex subunit 11 that is encoded in the genome of human.


name: SMD2_HUMAN Small nuclear ribonucleoprotein Sm D2 (sprot)

description: A small nuclear ribonucleoprotein Sm D2 that is encoded in the genome of human.


Nail psoriasis

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

description: Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.


amebiasis

description: A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.


BERAPROST SODIUM

The organic sodium salt of beraprost. It is used in the treatment of chronic arterial occlusive disease and primary pulmonary hypertension in Japan.


name: SCAM2_HUMAN Secretory carrier-associated membrane protein 2 (sprot)

description: A secretory carrier-associated membrane protein 2 that is encoded in the genome of human.


name: PCNP_HUMAN PEST proteolytic signal-containing nuclear protein (sprot)

description: A PEST proteolytic signal-containing nuclear protein that is encoded in the genome of human.


acanthosis nigricans

description: A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.


CEFAZOLIN SODIUM

A cephalosporin organic sodium salt having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side-groups.


ANDROSTANEDIOL

An androstane-3,17-diol that is 5alpha-androstane substituted by beta-hydroxy groups at positions 3 and 17. It is a metabolite of dihydrotestosterone.


name: S2536_HUMAN Solute carrier family 25 member 36 (sprot)

description: A solute carrier family 25 member 36 that is encoded in the genome of human.


ovarian melanoma

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


A trinitrobenzene in which each of the nitro groups is meta- to the other two.


mefloquine

A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown.


phosphatidylcholine (22:4/20:4)

A phosphatidylcholine 42:8 in which the fatty acyl groups at positions 1 and 2 are specified as C22:4 and C20:4 respectively. The positions of the double bonds are unspecified.


name: PLCH2_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 (sprot)

description: A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 that is encoded in the genome of human.


panhypopituitarism

description: Insufficient production of all the anterior pituitary hormones.


name: RIAD1_HUMAN RIIa domain-containing protein 1 (sprot)

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


tonsil carcinoma

description: A carcinoma that involves the tonsil.


name: CNPY3_HUMAN Protein canopy homolog 3 (sprot)

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


name: TAF12_HUMAN Transcription initiation factor TFIID subunit 12 (sprot)

description: A transcription initiation factor TFIID subunit 12 that is encoded in the genome of human.


name: UD13_HUMAN UDP-glucuronosyltransferase 1A3 (sprot)

description: A UDP-glucuronosyltransferase 1A3 that is encoded in the genome of human.


pituitary hypoplasia

description: Incomplete development of the pituitary gland.


name: MUC24_HUMAN Sialomucin core protein 24 (sprot)

description: A sialomucin core protein 24 that is encoded in the genome of human.


name: CD5R2_HUMAN Cyclin-dependent kinase 5 activator 2 (sprot)

description: A cyclin-dependent kinase 5 activator 2 that is encoded in the genome of human.


name: TMTC3_HUMAN Protein O-mannosyl-transferase TMTC3 (sprot)

description: A protein O-mannosyl-transferase TMTC3 that is encoded in the genome of human.


name: CISY_HUMAN Citrate synthase, mitochondrial (sprot)

description: A citrate synthase, mitochondrial that is encoded in the genome of human.


name: DLK2_HUMAN Protein delta homolog 2 (sprot)

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


name: IKZF5_HUMAN Zinc finger protein Pegasus (sprot)

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


tubular adenocarcinoma

description: An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.


name: DJC15_HUMAN DnaJ homolog subfamily C member 15 (sprot)

description: A DnaJ homolog subfamily C member 15 that is encoded in the genome of human.


aplasia cutis congenita

description: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.


SHSA7_HUMAN Protein shisa-7 (sprot)

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


diflorasone

The 16beta-analogue of flumethasone. It is used as the 17,21-diacetate as a topical anti-inflammatory and antipruritic in the treatment of various skin disorders.


name: RS27L_HUMAN Ribosomal protein eS27-like (sprot)

description: A ribosomal protein eS27-like protein that is encoded in the genome of human.


name: NOL10_HUMAN Nucleolar protein 10 (sprot)

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


name: DC121_HUMAN DDB1- and CUL4-associated factor 12-like protein 1 (sprot)

description: A DDB1- and CUL4-associated factor 12-like protein 1 that is encoded in the genome of human.


name: GZF1_HUMAN GDNF-inducible zinc finger protein 1 (sprot)

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


STX18_HUMAN Syntaxin-18 (sprot)

A syntaxin-18 that is encoded in the genome of human.


primary cutaneous amyloidosis

description: Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.


name: DESI1_HUMAN Desumoylating isopeptidase 1 (sprot)

description: A desumoylating isopeptidase 1 that is encoded in the genome of human.


name: GRIK3_HUMAN Glutamate receptor ionotropic, kainate 3 (sprot)

description: A glutamate receptor ionotropic, kainate 3 that is encoded in the genome of human.


Dysdiadochokinesis

description: A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.


name: ELMD3_HUMAN ELMO domain-containing protein 3 (sprot)

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


name: PCGF5_HUMAN Polycomb group RING finger protein 5 (sprot)

description: A Polycomb group RING finger protein 5 that is encoded in the genome of human.


A member of the class of isocoumarins that is isocoumarin substituted by chloro groups at positions 3 and 4. It is a serine protease inhibitor.


Nijmegen breakage syndrome

description: Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.


GSDMC_HUMAN Gasdermin-C (sprot)

A gasdermin-C that is encoded in the genome of human.


name: SPT25_HUMAN Spermatogenesis-associated protein 25 (sprot)

description: A spermatogenesis-associated protein 25 that is encoded in the genome of human.


name: STBD1_HUMAN Starch-binding domain-containing protein 1 (sprot)

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


CLOMIPRAMINE HYDROCHLORIDE

A hydrochloride resulting from the reaction of equimolar amounts of clomipramine and hydrogen chloride. One of the more sedating tricyclic antidepressants, it is used for the treatment of depression as well as obsessive-compulsive disorder and phobias.


name: ALMS1_HUMAN Centrosome-associated protein ALMS1 (sprot)

description: A centrosome-associated protein ALMS1 that is encoded in the genome of human.


name: IMP4_HUMAN U3 small nucleolar ribonucleoprotein protein IMP4 (sprot)

description: A U3 small nucleolar ribonucleoprotein protein IMP4 that is encoded in the genome of human.


A member of the class of imidazoles that is 1H-imidazole substituted by (4-cyanophenyl)methyl and [4-(3-chlorophenyl)-3-oxopiperazin-1-yl]methyl groups at positions 1 and 5, respectively. It is a dual inhibitor of FPTase and GGPTase-I.


RC3H2_HUMAN Roquin-2 (sprot)

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


name: PCDB5_HUMAN Protocadherin beta-5 (sprot)

description: A protocadherin beta-5 that is encoded in the genome of human.


name: CDKL1_HUMAN Cyclin-dependent kinase-like 1 (sprot)

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


Prolonged QRS complex

description: Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.


name: NAA40_HUMAN N-alpha-acetyltransferase 40 (sprot)

description: An N-alpha-acetyltransferase 40 that is encoded in the genome of human.


multi-infarct dementia

description: A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


bronchiectasis

description: Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.


name: MEI1_HUMAN Meiosis inhibitor protein 1 (sprot)

description: A meiosis inhibitor protein 1 that is encoded in the genome of human.


neurocristopathy

description: That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.


name: I5P2_HUMAN Type II inositol 1,4,5-trisphosphate 5-phosphatase (sprot)

description: A type II inositol 1,4,5-trisphosphate 5-phosphatase that is encoded in the genome of human.


name: thyroid gland diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma primarily involving the thyroid gland.


name: KCNG1_HUMAN Potassium voltage-gated channel subfamily G member 1 (sprot)

description: A voltage-gated potassium channel KCNG1 that is encoded in the genome of human.


placenta cancer

description: A malignant neoplasm involving the placenta.


squamous cell carcinoma of rectum

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


primary alcohol

A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.


tonsil neoplasm

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


name: PILRB_HUMAN Paired immunoglobulin-like type 2 receptor beta (sprot)

description: A paired immunoglobulin-like type 2 receptor beta that is encoded in the genome of human.


name: TULP4_HUMAN Tubby-related protein 4 (sprot)

description: A tubby-related protein 4 that is encoded in the genome of human.


VEXAS syndrome

description: An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.


name: HPS1_HUMAN BLOC-3 complex member HPS1 (sprot)

description: A BLOC-3 complex member HPS1 that is encoded in the genome of human.


name: HPS4_HUMAN BLOC-3 complex member HPS4 (sprot)

description: A BLOC-3 complex member HPS4 that is encoded in the genome of human.


Severe global developmental delay

description: A severe delay in the achievement of motor or mental milestones in the domains of development of a child.


name: CP20A_HUMAN Cytochrome P450 20A1 (sprot)

description: A cytochrome P450 20A1 that is encoded in the genome of human.


A hydrochloride salt obtained by reaction of 2-methyl-6-(phenylethynyl)pyridine with one equivalent of hydrochloric acid. Potent and highly selective non-competitive antagonist at the mGlu5 receptor subtype (IC50 = 36 nM) and a positive allosteric modulator at mGlu4 receptors. Centrally active following systemic administration in vivo. Reverses mechanical hyperalgesia in the inflamed rat hind paw.


THIOCYANIC ACID

A hydracid that is cyanic acid in which the oxygen is replaced by a sulfur atom.


A biphenylyltetrazole that is losartan with the hydroxymethyl group at position 5 on the imidazole ring replaced with a carboxylic acid.


nobiletin

A methoxyflavone that is flavone substituted by methoxy groups at positions 5, 6, 7, 8, 3' and 4' respectively.


crotamiton

An enamide resulting from the formal condensation of crotonic acid with N-ethyl-2-methylaniline. A colourless or pale yellow oily liquid, it is used in the treatment of pruritus (itching) by producing a counter-irritation: as it evaporates from the skin, it produces a cooling effect that diverts attention away from the itching. It has also been used as an acaricide in the treatment of scabies, though more effective drugs are usually preferred.


localized scleroderma

description: Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.


name: PKHA3_HUMAN Pleckstrin homology domain-containing family A member 3 (sprot)

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


Acute hepatic steatosis

description: An acute form of hepatic steatosis.


name: PMF1_HUMAN Polyamine-modulated factor 1 (sprot)

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


hypocalcemic rickets

description: Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).


name: ABCA6_HUMAN ATP-binding cassette sub-family A member 6 (sprot)

description: An ATP-binding cassette sub-family A member 6 that is encoded in the genome of human.


name: TRAIP_HUMAN E3 ubiquitin-protein ligase TRAIP (sprot)

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


name: TTLL7_HUMAN Tubulin polyglutamylase TTLL7 (sprot)

description: A tubulin polyglutamylase TTLL7 that is encoded in the genome of human.


description: Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.


The monocarboxylic acid amide resulting from the formal condensation of the aryl amino group of N-(4-fluorophenyl)-1-(2-phenylethyl)piperidin-4-amine with propanoic acid.


name: IFRD2_HUMAN Interferon-related developmental regulator 2 (sprot)

description: An interferon-related developmental regulator 2 that is encoded in the genome of human.


name: RAB6C_HUMAN Ras-related protein Rab-6C (sprot)

description: A Ras-related protein Rab-6C that is encoded in the genome of human.


bladder squamous cell carcinoma

description: A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.


name: PR38A_HUMAN Pre-mRNA-splicing factor 38A (sprot)

description: A pre-mRNA-splicing factor 38A that is encoded in the genome of human.


name: tumoral calcinosis, hyperphosphatemic, familial, 1


ceftibuten

A third-generation cephalosporin antibiotic with a [(2Z)-2-(2-amino-1,3-thiazol-4-yl)-4-carboxybut-2-enoyl]amino substituent at the 7 position of the cephem skeleton. An orally-administered agent, ceftibuten is used as the dihydrate to treat urinary-tract and respiratory-tract infections.


pleomorphic carcinoma

description: A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.


Spastic paraplegia

description: Spasticity and weakness of the leg and hip muscles.


name: COG8_HUMAN Conserved oligomeric Golgi complex subunit 8 (sprot)

description: A conserved oligomeric Golgi complex subunit 8 that is encoded in the genome of human.


facial hemiatrophy

description: Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.


name: GNAO_HUMAN Guanine nucleotide-binding protein G(o) subunit alpha (sprot)

description: A guanine nucleotide-binding protein G(o) subunit alpha that is encoded in the genome of human.


name: BLCAP_HUMAN Apoptosis inducing factor BLCAP (sprot)

description: A bladder cancer-associated protein that is encoded in the genome of human.


thyroid hyalinizing trabecular adenoma

description: A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.


name: M4A8_HUMAN Membrane-spanning 4-domains subfamily A member 8 (sprot)

description: A membrane-spanning 4-domains subfamily A member 8B that is encoded in the genome of human.


non-syndromic amelia

description: A congenital malformation characterized by the complete absence of all limbs.


splenic diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma occurring in the spleen.


disorder of copper metabolism

description: An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.


name: GPR22_HUMAN G-protein coupled receptor 22 (sprot)

description: A G-protein coupled receptor 22 that is encoded in the genome of human.


keto mycolic acid

A mycolic acid produced by Mycobacterium tuberculosis. Its structure is that of tetracosanoic acid substituted at position 2 by a 1-hydroxy-18-[2-(18-methyl-17-oxohexatriacontyl)cyclopropyl]octadecyl group.


name: congenital pulmonary airway malformation

description: An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.


name: KS6C1_HUMAN Ribosomal protein S6 kinase delta-1 (sprot)

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


name: CC88B_HUMAN Coiled-coil domain-containing protein 88B (sprot)

description: A coiled-coil domain-containing protein 88B that is encoded in the genome of human.


iritis

description: Inflammation of the iris.


name: P4HA1_HUMAN Prolyl 4-hydroxylase subunit alpha-1 (sprot)

description: A prolyl 4-hydroxylase subunit alpha-1 that is encoded in the genome of human.


HHV-6 encephalitis

description: HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.


OS9_HUMAN Protein OS-9 (sprot)

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


aortitis

description: Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.


name: FANCA_HUMAN Fanconi anemia group A protein (sprot)

description: A Fanconi anemia group A protein that is encoded in the genome of human.


name: KCTD7_HUMAN BTB/POZ domain-containing protein KCTD7 (sprot)

description: A BTB/POZ domain-containing protein KCTD7 that is encoded in the genome of human.


chronic intestinal failure

description: Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).


Impaired convergence

description: Reduced ability to turn the eyes inward in order to focus on a nearby object.


name: NSUN6_HUMAN tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 (sprot)

description: A tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 that is encoded in the genome of human.


name: SG1D2_HUMAN Secretoglobin family 1D member 2 (sprot)

description: A secretoglobin family 1D member 2 that is encoded in the genome of human.


cystadenoma

description: A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.


STEVIOL

An ent-kaurane diterpenoid that is 5beta,8alpha,9beta,10alpha-kaur-16-en-18-oic acid in which the hydrogen at position 13 has been replaced by a hydroxy group.


name: KLC2_HUMAN Kinesin light chain 2 (sprot)

description: A kinesin light chain 2 that is encoded in the genome of human.


Hartnup disease

description: Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


demodicidosis

description: Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.


GON4L_HUMAN GON-4-like protein (sprot)

A GON-4-like protein that is encoded in the genome of human.


name: KIRR3_HUMAN Kin of IRRE-like protein 3 (sprot)

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


name: CLN6_HUMAN Ceroid-lipofuscinosis neuronal protein 6 (sprot)

description: A ceroid-lipofuscinosis neuronal protein 6 that is encoded in the genome of human.


name: ZN469_HUMAN Zinc finger protein 469 (sprot)

description: A zinc finger protein 469 that is encoded in the genome of human.


name: ELL_HUMAN RNA polymerase II elongation factor ELL (sprot)

description: An RNA polymerase II elongation factor ELL that is encoded in the genome of human.


name: RS21_HUMAN Small ribosomal subunit protein eS21 (sprot)

description: A small ribosomal subunit protein eS21 that is encoded in the genome of human.


ITLN2_HUMAN Intelectin-2 (sprot)

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


name: KC1G1_HUMAN Casein kinase I isoform gamma-1 (sprot)

description: A casein kinase I isoform gamma-1 that is encoded in the genome of human.


name: LYZL2_HUMAN Lysozyme-like protein 2 (sprot)

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


tonsil cancer

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


name: OR1D2_HUMAN Olfactory receptor 1D2 (sprot)

description: An olfactory receptor 1D2 that is encoded in the genome of human.


Morton neuroma

description: Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals.


name: ARM12_HUMAN Armadillo repeat-containing protein 12 (sprot)

description: An armadillo repeat-containing protein 12 that is encoded in the genome of human.


name: CHM1B_HUMAN Charged multivesicular body protein 1b (sprot)

description: A charged multivesicular body protein 1b that is encoded in the genome of human.


name: DYR2_HUMAN Dihydrofolate reductase 2, mitochondrial (sprot)

description: A dihydrofolate reductase 2, mitochondrial that is encoded in the genome of human.


Long upper lip

description: Increased width of the upper lip.


autosomal recessive osteopetrosis 3

description: Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.


name: AB1IP_HUMAN Amyloid beta A4 precursor protein-binding family B member 1-interacting protein (sprot)

description: An amyloid beta A4 precursor protein-binding family B member 1-interacting protein that is encoded in the genome of human.


meningococcal infection

description: Infections with bacteria of the species neisseria meningitidis.


name: SMTL1_HUMAN Smoothelin-like protein 1 (sprot)

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


name: MDGA2_HUMAN MAM domain-containing glycosylphosphatidylinositol anchor protein 2 (sprot)

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


name: AAKG3_HUMAN 5'-AMP-activated protein kinase subunit gamma-3 (sprot)

description: A 5'-AMP-activated protein kinase subunit gamma-3 that is encoded in the genome of human.


name: T2R10_HUMAN Taste receptor type 2 member 10 (sprot)

description: A taste receptor type 2 member 10 that is encoded in the genome of human.


ovarian small cell carcinoma

description: A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.


name: RRP1_HUMAN Ribosomal RNA processing protein 1 homolog A (sprot)

description: A ribosomal RNA processing protein 1 homolog A that is encoded in the genome of human.


cycrimine

A member of the class of piperidines that is 3-(piperidin-1-yl)propan-1-ol in which one of the hydrogen atoms at the 1-position is substituted by cyclopentyl, and the other is substituted by phenyl. A central anticholinergic, it is used as its hydrochloride salt in the management and treatment of Parkinson's disease.


NINJ2_HUMAN Ninjurin-2 (sprot)

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


name: SLAI1_HUMAN SLAIN motif-containing protein 1 (sprot)

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


name: SYEP_HUMAN Bifunctional glutamate/proline--tRNA ligase (sprot)

description: A bifunctional glutamate/proline--tRNA ligase that is encoded in the genome of human.


name: MEP1A_HUMAN Meprin A subunit alpha (sprot)

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


hallucinogen dependence

description: A drug dependence for a hallucinogenic substance.


name: EXOS4_HUMAN Exosome complex component RRP41 (sprot)

description: An exosome complex component RRP41 that is encoded in the genome of human.


T lymphocytopenia

description: An abnormally low count of T cells.


STYRENE

A vinylarene that is benzene carrying a vinyl group. It has been isolated from the benzoin resin produced by Styrax species.


cyanuric acid

The enol tautomer of isocyanuric acid.


name: RPB2_HUMAN DNA-directed RNA polymerase II subunit RPB2 (sprot)

description: A DNA-directed RNA polymerase II subunit RPB2 that is encoded in the genome of human.


acute hepatitis B virus infection

description: A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.


name: DPPA5_HUMAN Developmental pluripotency-associated 5 protein (sprot)

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


Neuroinflammation

description: Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.


PRS33_HUMAN Serine protease 33 (sprot)

A serine protease 33 that is encoded in the genome of human.


ISM1_HUMAN Isthmin-1 (sprot)

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


Kyphosis

description: Exaggerated anterior convexity of the thoracic vertebral column.


name: SMAP2_HUMAN Stromal membrane-associated protein 2 (sprot)

description: A stromal membrane-associated protein 2 that is encoded in the genome of human.


QUERCETAGETIN

A hexahydroxyflavone that is flavone substituted by hydroxy groups at positions 3, 5, 6, 7, 3' and 4' respectively.


name: VAX1_HUMAN Ventral anterior homeobox 1 (sprot)

description: A ventral anterior homeobox 1 that is encoded in the genome of human.


PLXB3_HUMAN Plexin-B3 (sprot)

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


SEM5A_HUMAN Semaphorin-5A (sprot)

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


F107B_HUMAN Protein FAM107B (sprot)

A protein FAM107B that is encoded in the genome of human.


endometrial clear cell adenocarcinoma

description: A clear cell adenocarcinoma that involves the endometrium.


intrahepatic bile duct cancer

description: A cancer that involves the intrahepatic bile duct.


isolated ectopia lentis

description: Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.


name: ZNRF4_HUMAN E3 ubiquitin-protein ligase ZNRF4 (sprot)

description: An E3 ubiquitin-protein ligase ZNRF4 that is encoded in the genome of human.


name: S3TC2_HUMAN SH3 domain and tetratricopeptide repeat-containing protein 2 (sprot)

description: An SH3 domain and tetratricopeptide repeat-containing protein 2 that is encoded in the genome of human.


hexadecanedioic acid

An alpha,omega-dicarboxylic acid that is the 1,14-dicarboxy derivative of tetradecane.


name: NPT2C_HUMAN Sodium-dependent phosphate transport protein 2C (sprot)

description: A sodium-dependent phosphate transport protein 2C that is encoded in the genome of human.


A nitroarene that is  fluorene substituted by a nitro group at position 2.


coronary vasospasm

description: Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.


SODIUM METABISULFITE

An inorganic sodium salt composed of sodium and disulfite ions in a 2:1 ratio.


hyperprolinemia type 2

description: Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


name: PPM1G_HUMAN Protein phosphatase 1G (sprot)

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


name: TRM6_HUMAN tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 (sprot)

description: A tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 that is encoded in the genome of human.


name: B3GT6_HUMAN Beta-1,3-galactosyltransferase 6 (sprot)

description: A beta-1,3-galactosyltransferase 6 that is encoded in the genome of human.


inherited threoninemia

description: An increased concentration of threonine in the blood.


name: U3IP2_HUMAN U3 small nucleolar RNA-interacting protein 2 (sprot)

description: A U3 small nucleolar RNA-interacting protein 2 that is encoded in the genome of human.


name: KBTB7_HUMAN Kelch repeat and BTB domain-containing protein 7 (sprot)

description: A kelch repeat and BTB domain-containing protein 7 that is encoded in the genome of human.


salivary gland mucoepidermoid carcinoma

description: A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.


name: RAB5C_HUMAN Ras-related protein Rab-5C (sprot)

description: A Ras-related protein Rab-5C that is encoded in the genome of human.


name: DDX52_HUMAN Probable ATP-dependent RNA helicase DDX52 (sprot)

description: A probable ATP-dependent RNA helicase DDX52 that is encoded in the genome of human.


RRP5_HUMAN Protein RRP5 homolog (sprot)

A protein RRP5 that is encoded in the genome of human.


disaccharide

A compound in which two monosaccharides are joined by a glycosidic bond.


name: FGD3_HUMAN FYVE, RhoGEF and PH domain-containing protein 3 (sprot)

description: A FYVE, RhoGEF and PH domain-containing protein 3 that is encoded in the genome of human.


name: GOGB1_HUMAN Golgin subfamily B member 1 (sprot)

description: A golgin subfamily B member 1 that is encoded in the genome of human.


aneurysmal bone cyst

description: A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.


GMPR1_HUMAN GMP reductase 1 (sprot)

A GMP reductase 1 that is encoded in the genome of human.


Mitochondrial hypertrophy

description: Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.


conventional osteosarcoma

description: A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


cervical small cell carcinoma

description: A small cell carcinoma arising from the cervix.


name: CLPT1_HUMAN Putative lipid scramblase CLPTM1 (sprot)

description: A putative lipid scramblase CLPTM1 that is encoded in the genome of human.


leather-bottle stomach

description: A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.


name: ARRD4_HUMAN Arrestin domain-containing protein 4 (sprot)

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


CINCA syndrome

description: Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.


labyrinthitis

description: Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.


name: MELK_HUMAN Maternal embryonic leucine zipper kinase (sprot)

description: A maternal embryonic leucine zipper kinase that is encoded in the genome of human.


nocturnal paroxysmal dystonia

description: A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.


somatostatinoma

description: A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.


name: URGCP_HUMAN Up-regulator of cell proliferation (sprot)

description: An up-regulator of cell proliferation that is encoded in the genome of human.


BETAXOLOL HYDROCHLORIDE

The hydrochloride salt of betaxolol.


ocular cancer

description: A benign or malignant neoplasm affecting the structures of the eye.


Hypoketotic hypoglycemia

description: A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.


Impulsivity

description: Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.


lacrimal gland adenoid cystic carcinoma

description: A adenoid cystic carcinoma that involves the lacrimal gland.


Loss of ambulation

description: Inability to walk in a person who previous had the ability to walk.


name: MED6_HUMAN Mediator of RNA polymerase II transcription subunit 6 (sprot)

description: A mediator of RNA polymerase II transcription subunit 6 that is encoded in the genome of human.


tropisetron hydrochloride

A hydrochloride obtained by combining equimolar amounts of tropisetron and hydrogen chloride.


prostatic adenoma

description: Focal benign glandular hyperplasia in the prostate gland.


ornithine translocase deficiency

description: A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.


name: PGAP2_HUMAN Post-GPI attachment to proteins factor 2 (sprot)

description: A post-GPI attachment to proteins factor 2 that is encoded in the genome of human.


thyroid hormone resistance syndrome

description: An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.


name: PLS3_HUMAN Phospholipid scramblase 3 (sprot)

description: A phospholipid scramblase 3 that is encoded in the genome of human.


adult hepatocellular carcinoma

description: Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.


ADK_HUMAN Adenosine kinase (sprot)

An adenosine kinase that is encoded in the genome of human.


blastoma

description: A malignant neoplasm composed of undifferentiated cells.


rectum adenoma

description: An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


mediastinum seminoma

description: An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.


mitral valve disorder

description: A disease involving the mitral valve.


name: N42L2_HUMAN NEDD4-binding protein 2-like 2 (sprot)

description: A NEDD4-binding protein 2-like 2 that is encoded in the genome of human.


ethylestrenol

A 17beta-hydroxy steroid that is estrane containing a double bond between positions 4 and 5 and substituted by an ethyl group and a hydroxy group at the 17alpha and 17beta positions, respectively. It is an anabolic steroid that has little androgenic effect and only slight progestational activity. It has been used to promote growth in boys with delayed bone growth.


name: KLH23_HUMAN Kelch-like protein 23 (sprot)

description: A kelch-like protein 23 that is encoded in the genome of human.


name: ZBT10_HUMAN Zinc finger and BTB domain-containing protein 10 (sprot)

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


name: FICD_HUMAN Protein adenylyltransferase FICD (sprot)

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


GUAD_HUMAN Guanine deaminase (sprot)

A guanine deaminase that is encoded in the genome of human.


name: ERD23_HUMAN ER lumen protein-retaining receptor 3 (sprot)

description: An ER lumen protein-retaining receptor 3 that is encoded in the genome of human.


name: KIZ_HUMAN Centrosomal protein kizuna (sprot)

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


Renal tubular epithelial cell swelling

description: Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.


HER2 positive breast carcinoma

description: A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).


signet ring cell gastric adenocarcinoma

description: A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.


Corneal scarring

description: Trauma to the cornea of the eye.


name: S12A3_HUMAN Solute carrier family 12 member 3 (sprot)

description: A solute carrier family 12 member 3 that is encoded in the genome of human.


name: HNRH2_HUMAN Heterogeneous nuclear ribonucleoprotein H2 (sprot)

description: A heterogeneous nuclear ribonucleoprotein H2 that is encoded in the genome of human.


autosomal recessive bestrophinopathy

description: Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).


benign neoplasm of adrenal gland

description: A benign neoplasm that involves the adrenal gland.


name: RALB_HUMAN Ras-related protein Ral-B (sprot)

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


name: PA24F_HUMAN Cytosolic phospholipase A2 zeta (sprot)

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


thymus squamous cell carcinoma

description: A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.


Occipital neuralgia

description: A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.


Digital ischemia

description: Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.


plantar fibromatosis

description: A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.


mucocutaneous leishmaniasis

description: The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.


name: CSC1_HUMAN Calcium permeable stress-gated cation channel 1 (sprot)

description: A calcium permeable stress-gated cation channel 1 that is encoded in the genome of human.


name: FLRT1_HUMAN Leucine-rich repeat transmembrane protein FLRT1 (sprot)

description: A leucine-rich repeat transmembrane protein FLRT1 that is encoded in the genome of human.


thrombocythemia 3

description: Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.


name: SRRM1_HUMAN Serine/arginine repetitive matrix protein 1 (sprot)

description: A serine/arginine repetitive matrix protein 1 that is encoded in the genome of human.


cholate

A bile acid anion that is the conjugate base of cholic acid.


name: IF4E3_HUMAN Eukaryotic translation initiation factor 4E type 3 (sprot)

description: A eukaryotic translation initiation factor 4E type 3 that is encoded in the genome of human.


name: NALCN_HUMAN Sodium leak channel NALCN (sprot)

description: A sodium leak channel NALCN that is encoded in the genome of human.


name: MINT_HUMAN Msx2-interacting protein (sprot)

description: An Msx2-interacting protein that is encoded in the genome of human.


vernolic acid

A monounsaturated epoxy fatty acid composed of cis-9-octadecenoic acid having a 12,13-epoxy group.


name: AGRD1_HUMAN Adhesion G-protein coupled receptor D1 (sprot)

description: An adhesion G-protein coupled receptor D1 that is encoded in the genome of human.


name: ERLEC_HUMAN Endoplasmic reticulum lectin 1 (sprot)

description: An endoplasmic reticulum lectin 1 that is encoded in the genome of human.


PEONIDIN

An anthocyanidin cation that is flavylium bearing four hydroxy substituents at positions 3, 4', 5 and 7 as well as a methoxy substituent at position 3'.


parotitis

description: Inflammation of the parotid glands.


benign meningioma

description: A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.


name: ILKAP_HUMAN Integrin-linked kinase-associated serine/threonine phosphatase 2C (sprot)

description: An integrin-linked kinase-associated serine/threonine phosphatase 2C that is encoded in the genome of human.


name: AN33B_HUMAN Ankyrin repeat domain-containing protein 33B (sprot)

description: An ankyrin repeat domain-containing protein 33B that is encoded in the genome of human.


CETN3_HUMAN Centrin-3 (sprot)

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


Palmoplantar erythema

description: Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.


name: PRI1_HUMAN DNA primase small subunit (sprot)

description: A DNA primase small subunit that is encoded in the genome of human.


name: APC5_HUMAN Anaphase-promoting complex subunit 5 (sprot)

description: An anaphase-promoting complex subunit 5 that is encoded in the genome of human.


Townes-Brocks syndrome

description: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.


congenital muscular dystrophy

description: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.


OSELTAMIVIR CARBOXYLATE

A cyclohexenecarboxylic acid that is cyclohex-1-ene-1-carboxylic acid which is substituted at positions 3, 4, and 5 by pentan-3-yloxy, acetamido, and amino groups, respectively (the 3R,4R,5S enantiomer). An antiviral drug, it is used as the corresponding ethyl ester prodrug, oseltamivir, to slow the spread of influenza.


name: CKP2L_HUMAN Cytoskeleton-associated protein 2-like (sprot)

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


adipic acid

An alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane.


Arteria lusoria

description: Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


name: KPCL_HUMAN Protein kinase C eta type (sprot)

description: A protein kinase C eta type that is encoded in the genome of human.


Quebec platelet disorder

description: Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.


name: UBP31_HUMAN Ubiquitin carboxyl-terminal hydrolase 31 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 31 that is encoded in the genome of human.


Hyperleucinemia

description: An increased concentration of leucine in the blood.


name: ZFAN6_HUMAN AN1-type zinc finger protein 6 (sprot)

description: An AN1-type zinc finger protein 6 that is encoded in the genome of human.


name: CACB4_HUMAN Voltage-dependent L-type calcium channel subunit beta-4 (sprot)

description: A voltage-dependent L-type calcium channel subunit beta-4 that is encoded in the genome of human.


name: PAR6B_HUMAN Partitioning defective 6 homolog beta (sprot)

description: A partitioning defective 6 homolog beta that is encoded in the genome of human.


Imerslund-Grasbeck syndrome

description: Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


tauro-beta-muricholic acid

A bile acid taurine conjugate derived from beta-muricholic acid.


aggressive B-cell non-Hodgkin lymphoma

description: A B-cell non-Hodgkin lymphoma with an aggressive clinical course. This category includes B lymphoblastic lymphoma, subtypes of diffuse large B-cell lymphoma, Burkitt lymphoma, grade 3 follicular lymphoma, and mantle cell lymphoma.


name: LTOR4_HUMAN Ragulator complex protein LAMTOR4 (sprot)

description: A ragulator complex protein LAMTOR4 that is encoded in the genome of human.


name: Recurrent acute respiratory tract infection

description: A history of repeated acute infections of the upper or lower respiratory tract.


name: ACSF3_HUMAN Malonate--CoA ligase ACSF3, mitochondrial (sprot)

description: A malonate--CoA ligase ACSF3, mitochondrial that is encoded in the genome of human.


prostate neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.


pseudohypoaldosteronism type 2

description: A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.


name: GRAM4_HUMAN GRAM domain-containing protein 4 (sprot)

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


name: PPCS_HUMAN Phosphopantothenate--cysteine ligase (sprot)

description: A phosphopantothenate--cysteine ligase that is encoded in the genome of human.


name: CDON_HUMAN Cell adhesion molecule-related/down-regulated by oncogenes (sprot)

description: A cell adhesion molecule-related/down-regulated by oncogenes that is encoded in the genome of human.


Male sexual dysfunction

description: A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


name: RL37A_HUMAN Large ribosomal subunit protein eL43 (sprot)

description: A large ribosomal subunit protein eL43 that is encoded in the genome of human.


inflammation of heart layer

description: An inflammatory disease involving a pathogenic inflammatory response in the heart layer.


name: NECP1_HUMAN Adaptin ear-binding coat-associated protein 1 (sprot)

description: An adaptin ear-binding coat-associated protein 1 that is encoded in the genome of human.


Salmonella gastroenteritis

description: Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.


RP3A_HUMAN Rabphilin-3A (sprot)

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


acute flaccid myelitis

description: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.


PRS27_HUMAN Serine protease 27 (sprot)

A serine protease 27 that is encoded in the genome of human.


name: NACA2_HUMAN Nascent polypeptide-associated complex subunit alpha-2 (sprot)

description: A nascent polypeptide-associated complex subunit alpha-2 that is encoded in the genome of human.


name: NRBP2_HUMAN Nuclear receptor-binding protein 2 (sprot)

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


name: FBXL4_HUMAN F-box/LRR-repeat protein 4 (sprot)

description: An F-box/LRR-repeat protein 4 that is encoded in the genome of human.


N-acetyl-alpha-D-glucosamine

An N-acetyl-D-glucosamine that has alpha-configuration at the anomeric centre.


name: TMIG3_HUMAN Transmembrane domain-containing protein TMIGD3 (sprot)

description: A transmembrane domain-containing protein TMIGD3 that is encoded in the genome of human.


name: DYH10_HUMAN Dynein axonemal heavy chain 10 (sprot)

description: A dynein axonemal heavy chain 10 that is encoded in the genome of human.


demyelinating polyneuropathy

description: Polyneuropathy that is characterized by demyelination of axons.


carbodiimide

Any organonitrogen compound that consists of two primary amino groups joined to a central carbon atom via N=C linkages.


name: UFSP2_HUMAN Ufm1-specific protease 2 (sprot)

description: A Ufm1-specific protease 2 that is encoded in the genome of human.


L-THREONIC ACID

The L-enantiomer of threonic acid.


name: VNN2_HUMAN Pantetheine hydrolase VNN2 (sprot)

description: A pantetheine hydrolase VNN2 that is encoded in the genome of human.


SNX13_HUMAN Sorting nexin-13 (sprot)

A sorting nexin-13 that is encoded in the genome of human.


ornithine aminotransferase deficiency

description: A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


name: T2R60_HUMAN Taste receptor type 2 member 60 (sprot)

description: A taste receptor type 2 member 60/135 that is encoded in the genome of human.


nafarelin

An oligopeptide comprising of 5-oxo-L-proline, L-histidine, L-tryptophan, L-serine, L-tyrosine, 3-(2-naphthyl)-D-alanine, L-leucine, L-arginine and L-prolylglycinamide residues joined sequence by peptide linkages. It is a gonadotropin releasing hormone agonist that is used to treat central precocious puberty in children and endometriosis in women.


name: PGTA_HUMAN Geranylgeranyl transferase type-2 subunit alpha (sprot)

description: A geranylgeranyl transferase type-2 subunit alpha that is encoded in the genome of human.


immature ovarian teratoma

description: A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.


name: PRD12_HUMAN PR domain zinc finger protein 12 (sprot)

description: A PR domain zinc finger protein 12 that is encoded in the genome of human.


name: KLH22_HUMAN Kelch-like protein 22 (sprot)

description: A kelch-like protein 22 that is encoded in the genome of human.


papillary tumor of the pineal region

description: Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.


letterer-Siwe disease

description: A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.


name: PSG5_HUMAN Pregnancy-specific beta-1-glycoprotein 5 (sprot)

description: A pregnancy-specific beta-1-glycoprotein 5 that is encoded in the genome of human.


name: NFIP2_HUMAN NEDD4 family-interacting protein 2 (sprot)

description: A NEDD4 family-interacting protein 2 that is encoded in the genome of human.


name: VA0E1_HUMAN V-type proton ATPase subunit e 1 (sprot)

description: A V-type proton ATPase subunit e 1 that is encoded in the genome of human.


name: CUTC_HUMAN Copper homeostasis protein cutC homolog (sprot)

description: A copper homeostasis protein cutC that is encoded in the genome of human.


name: SRSF8_HUMAN Serine/arginine-rich splicing factor 8 (sprot)

description: A serine/arginine-rich splicing factor 8 that is encoded in the genome of human.


name: KRT81_HUMAN Keratin, type II cuticular Hb1 (sprot)

description: A keratin, type II cuticular Hb1 that is encoded in the genome of human.


DERL2_HUMAN Derlin-2 (sprot)

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


name: IQEC2_HUMAN IQ motif and SEC7 domain-containing protein 2 (sprot)

description: An IQ motif and SEC7 domain-containing protein 2 that is encoded in the genome of human.


name: CMYA5_HUMAN Cardiomyopathy-associated protein 5 (sprot)

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


name: LMBD1_HUMAN Lysosomal cobalamin transport escort protein LMBD1 (sprot)

description: A lysosomal cobalamin transport escort protein LMBD1 that is encoded in the genome of human.


idiopathic recurrent pericarditis

description: A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.


PPR18_HUMAN Phostensin (sprot)

A phostensin that is encoded in the genome of human.


CARASIL syndrome

description: CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.


name: PROL4_HUMAN Proline-rich protein 4 (sprot)

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


name: RPA49_HUMAN DNA-directed RNA polymerase I subunit RPA49 (sprot)

description: A DNA-directed RNA polymerase I subunit RPA49 that is encoded in the genome of human.


name: HUNK_HUMAN Hormonally up-regulated neu tumor-associated kinase (sprot)

description: A hormonally up-regulated neu tumor-associated kinase that is encoded in the genome of human.


persistent Mullerian duct syndrome

description: Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.


clear cell adenofibroma

description: A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.


name: KCJ13_HUMAN Inward rectifier potassium channel 13 (sprot)

description: An inward rectifier potassium channel 13 that is encoded in the genome of human.


CAD22_HUMAN Cadherin-22 (sprot)

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


name: PRP39_HUMAN Pre-mRNA-processing factor 39 (sprot)

description: A pre-mRNA-processing factor 39 that is encoded in the genome of human.


malonic aciduria

description: Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).


CER1_HUMAN Cerberus (sprot)

A cerberus that is encoded in the genome of human.


autosomal dominant hypocalcemia

description: Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria.


name: DD19B_HUMAN ATP-dependent RNA helicase DDX19B (sprot)

description: An ATP-dependent RNA helicase DDX19B that is encoded in the genome of human.


name: LIN52_HUMAN Protein lin-52 homolog (sprot)

description: A protein lin-52 that is encoded in the genome of human.


name: LIN54_HUMAN Protein lin-54 homolog (sprot)

description: A protein lin-54 that is encoded in the genome of human.


name: M3KCL_HUMAN MAP3K7 C-terminal-like protein (sprot)

description: A MAP3K7 C-terminal-like protein that is encoded in the genome of human.


gallbladder adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the gall bladder.


3-(N-morpholino)propanesulfonic acid

A Good's buffer substance, pKa = 7.2 at 20 degreeC.


name: TR16L_HUMAN Tripartite motif-containing protein 16-like protein (sprot)

description: A tripartite motif-containing protein 16-like protein that is encoded in the genome of human.


SAPHO syndrome

description: SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.


hearing disorder

description: A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.


name: M4A4E_HUMAN Putative membrane-spanning 4-domains subfamily A member 4E (sprot)

description: A putative membrane-spanning 4-domains subfamily A member 4E that is encoded in the genome of human.


name: PIGV_HUMAN GPI mannosyltransferase 2 (sprot)

description: A GPI mannosyltransferase 2 that is encoded in the genome of human.


cefcapene

A cephalosporin compound having (carbamoyloxy)methyl and N-[(2Z)-2-(2-amino-1,3-thiazol-4-yl)pent-2-enoyl]amino side-groups. It is used (generally as the corresponnding pivaloyloxymethyl ester prodrug) as an oral antibacterial.


name: ZFY21_HUMAN Zinc finger FYVE domain-containing protein 21 (sprot)

description: A zinc finger FYVE domain-containing protein 21 that is encoded in the genome of human.


name: M4A4A_HUMAN Membrane-spanning 4-domains subfamily A member 4A (sprot)

description: A membrane-spanning 4-domains subfamily A member 4A that is encoded in the genome of human.


name: HMGX4_HUMAN HMG domain-containing protein 4 (sprot)

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


name: KCNG2_HUMAN Potassium voltage-gated channel subfamily G member 2 (sprot)

description: A voltage-gated potassium channel KCNG2 that is encoded in the genome of human.


SNTG2_HUMAN Gamma-2-syntrophin (sprot)

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


CD177_HUMAN CD177 antigen (sprot)

A CD177 molecule that is encoded in the genome of human.


cecum adenocarcinoma

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


GAG2B_HUMAN G antigen 2B/2C (sprot)

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


inherited dystonia

description: An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.


name: RN212_HUMAN Probable E3 SUMO-protein ligase RNF212 (sprot)

description: A RING finger protein 212 that is encoded in the genome of human.


name: PCGF3_HUMAN Polycomb group RING finger protein 3 (sprot)

description: A Polycomb group RING finger protein 3 that is encoded in the genome of human.


VITRN_HUMAN Vitrin (sprot)

A vitrin that is encoded in the genome of human.


breast phyllodes tumor

description: A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.


rosoxacin

A quinolinemonocarboxylic acid that is 1,4-dihydroquinoline-3-carboxylic acid that is substituted by an ethyl group at position 1 and by a pyridin-4-yl group at position 7. An antibacterial drug, active against Neisseria gonorrhoeae, it has been used for treating urinary tract infections and certain sexually transmitted diseases.


name: RL1D1_HUMAN Ribosomal L1 domain-containing protein 1 (sprot)

description: A ribosomal L1 domain-containing protein 1 that is encoded in the genome of human.


name: CLM6_HUMAN CMRF35-like molecule 6 (sprot)

description: A CMRF35-like molecule 6 that is encoded in the genome of human.


name: TCPZ_HUMAN T-complex protein 1 subunit zeta (sprot)

description: A T-complex protein 1 subunit zeta that is encoded in the genome of human.


THIOPHENE

Compounds containing at least one thiophene ring.


name: C1QT8_HUMAN Complement C1q tumor necrosis factor-related protein 8 (sprot)

description: A complement C1q tumor necrosis factor-related protein 8 that is encoded in the genome of human.


peripheral nervous system neoplasm

description: A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


migraine, familial hemiplegic, 1

description: An autosomal dominant subtype of familial hemiplegic migraine caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A.


TBB6_HUMAN Tubulin beta-6 chain (sprot)

A tubulin beta-6 chain that is encoded in the genome of human.


name: S35F2_HUMAN Solute carrier family 35 member F2 (sprot)

description: A solute carrier family 35 member F2 that is encoded in the genome of human.


actinomycosis

description: Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.


name: PISD_HUMAN Phosphatidylserine decarboxylase proenzyme, mitochondrial (sprot)

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


name: VATB1_HUMAN V-type proton ATPase subunit B, kidney isoform (sprot)

description: A V-type proton ATPase subunit B, kidney isoform that is encoded in the genome of human.


Multidrug-resistant nephrotic syndrome

description: A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.


name: mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

description: Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.


name: TNF18_HUMAN Tumor necrosis factor ligand superfamily member 18 (sprot)

description: A tumor necrosis factor ligand superfamily member 18 that is encoded in the genome of human.


Hyperfibrinolysis

description: Increased degradation of fibrin, associated with clot instability and bleeding


retrobulbar neuritis

description: Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.


name: NOM1_HUMAN Nucleolar MIF4G domain-containing protein 1 (sprot)

description: A nucleolar MIF4G domain-containing protein 1 that is encoded in the genome of human.


name: S35D1_HUMAN Nucleotide sugar transporter SLC35D1 (sprot)

description: A nucleotide sugar transporter SLC35D1 that is encoded in the genome of human.


name: UB2Q2_HUMAN Ubiquitin-conjugating enzyme E2 Q2 (sprot)

description: A ubiquitin-conjugating enzyme E2 Q2 that is encoded in the genome of human.


PARVA_HUMAN Alpha-parvin (sprot)

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


name: TPRG1_HUMAN Tumor protein p63-regulated gene 1 protein (sprot)

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


name: lymphoblastic leukemia, acute, with lymphomatous features


name: NOC4L_HUMAN Nucleolar complex protein 4 homolog (sprot)

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


barbital

A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by two ethyl groups. Formerly used as a hypnotic (sleeping aid).


description: Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.


name: ACO13_HUMAN Acyl-coenzyme A thioesterase 13 (sprot)

description: An acyl-coenzyme A thioesterase 13 that is encoded in the genome of human.


riboflavin transporter deficiency

description: A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.


name: NU133_HUMAN Nuclear pore complex protein Nup133 (sprot)

description: A nuclear pore complex protein Nup133 that is encoded in the genome of human.


name: CRERF_HUMAN CREB3 regulatory factor (sprot)

description: A CREB3 regulatory factor that is encoded in the genome of human.


name: SVBP_HUMAN Small vasohibin-binding protein (sprot)

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


schizophreniform disorder

description: A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.


SYCN_HUMAN Syncollin (sprot)

A syncollin that is encoded in the genome of human.


Fox-Fordyce disease

description: A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.


GAPO syndrome

description: A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations


aminohippuric acid

An N-acylglycine that is the 4-amino derivative of hippuric acid; used as a diagnostic agent in the measurement of renal plasma flow.


name: ZNF32_HUMAN Zinc finger protein 32 (sprot)

description: A zinc finger protein 32 that is encoded in the genome of human.


name: IPKG_HUMAN cAMP-dependent protein kinase inhibitor gamma (sprot)

description: A cAMP-dependent protein kinase inhibitor gamma that is encoded in the genome of human.


name: ERGI1_HUMAN Endoplasmic reticulum-Golgi intermediate compartment protein 1 (sprot)

description: An endoplasmic reticulum-Golgi intermediate compartment protein 1 that is encoded in the genome of human.


uvulitis

description: Inflammation of the uvula.


name: MARH7_HUMAN E3 ubiquitin-protein ligase MARCHF7 (sprot)

description: An E3 ubiquitin-protein ligase MARCHF7 that is encoded in the genome of human.


rhizomelic chondrodysplasia punctata

description: Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.


name: NACC2_HUMAN Nucleus accumbens-associated protein 2 (sprot)

description: A nucleus accumbens-associated protein 2 that is encoded in the genome of human.


name: V1BR_HUMAN Vasopressin V1b receptor (sprot)

description: A vasopressin V1b receptor that is encoded in the genome of human.


name: NEC2_HUMAN Neuroendocrine convertase 2 (sprot)

description: A neuroendocrine convertase 2 that is encoded in the genome of human.


Mildly reduced visual acuity

description: Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.


pyruvate dehydrogenase deficiency

description: Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.


name: WDR76_HUMAN WD repeat-containing protein 76 (sprot)

description: A WD repeat-containing protein 76 that is encoded in the genome of human.


MYL5_HUMAN Myosin light chain 5 (sprot)

A myosin light chain 5 that is encoded in the genome of human.


name: PINLY_HUMAN phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein (sprot)

description: A phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein that is encoded in the genome of human.


name: SURF4_HUMAN Surfeit locus protein 4 (sprot)

description: A surfeit locus protein 4 that is encoded in the genome of human.


congenital fibrinogen deficiency

description: Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).


name: ENOX1_HUMAN Ecto-NOX disulfide-thiol exchanger 1 (sprot)

description: An ecto-NOX disulfide-thiol exchanger 1 that is encoded in the genome of human.


name: RCBT1_HUMAN RCC1 and BTB domain-containing protein 1 (sprot)

description: An RCC1 and BTB domain-containing protein 1 that is encoded in the genome of human.


non-24-hour sleep-wake syndrome

description: Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.


Muckle-Wells syndrome

description: An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).


name: TM45A_HUMAN Transmembrane protein 45A (sprot)

description: A transmembrane protein 45A that is encoded in the genome of human.


SFXN2_HUMAN Sideroflexin-2 (sprot)

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


name: RPC1_HUMAN DNA-directed RNA polymerase III subunit RPC1 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC1 that is encoded in the genome of human.


name: ALG6_HUMAN Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (sprot)

description: A dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase that is encoded in the genome of human.


name: famililal cerebral cavernous malformations

description: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.


name: STK36_HUMAN Serine/threonine-protein kinase 36 (sprot)

description: A serine/threonine-protein kinase 36 that is encoded in the genome of human.


difluoroacetic acid

A monocarboxylic acid that is acetic acid in which two of the methyl hydrogens are substituted by fluorines.


BEST2_HUMAN Bestrophin-2a (sprot)

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


name: L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase, mitochondrial (sprot)

description: An L-2-hydroxyglutarate dehydrogenase, mitochondrial that is encoded in the genome of human.


lymphoplasmacyte-rich meningioma

description: A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.


name: ZDH15_HUMAN Palmitoyltransferase ZDHHC15 (sprot)

description: A palmitoyltransferase ZDHHC15 that is encoded in the genome of human.


name: diabetes mellitus, noninsulin-dependent, 3


TCEP

A tertiary phosphine in which phosphane is substituted with three 2-carboxyethyl groups. It is a commonly used reducing agent.


description: Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.


name: GSTK1_HUMAN Glutathione S-transferase kappa 1 (sprot)

description: A glutathione S-transferase kappa 1 that is encoded in the genome of human.


name: SIA4C_HUMAN CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 (sprot)

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


name: EXOS5_HUMAN Exosome complex component RRP46 (sprot)

description: An exosome complex component RRP46 that is encoded in the genome of human.


cervix melanoma

description: An aggressive malignant tumor of melanocytic origin that arises from the cervix.


rhabdomyoma

description: A benign mesenchymal tumor arising from skeletal or cardiac muscle.


name: ST32C_HUMAN Serine/threonine-protein kinase 32C (sprot)

description: A serine/threonine-protein kinase 32C that is encoded in the genome of human.


glycochenodeoxycholate

A N-acylglycinate that is the conjugate base of glycochenodeoxycholic acid.


oral rhabdomyosarcoma

description: A rhabdomyosarcoma located in the oral cavity.


name: TM7S3_HUMAN Transmembrane 7 superfamily member 3 (sprot)

description: A transmembrane 7 superfamily member 3 that is encoded in the genome of human.


name: LSM3_HUMAN U6 snRNA-associated Sm-like protein LSm3 (sprot)

description: A U6 snRNA-associated Sm-like protein LSm3 that is encoded in the genome of human.


name: MYL10_HUMAN Myosin regulatory light chain 10 (sprot)

description: A myosin regulatory light chain 10 that is encoded in the genome of human.


inhalational anthrax

description: A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.


hemidystonia

description: A multifocal dystonia that involves the arm and leg on the same side of the body.


superior limbic keratoconjunctivitis

description: Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.


name: PORCN_HUMAN Protein-serine O-palmitoleoyltransferase porcupine (sprot)

description: A protein-serine O-palmitoleoyltransferase porcupine that is encoded in the genome of human.


name: CTC1_HUMAN CST complex subunit CTC1 (sprot)

description: A CST complex subunit CTC1 that is encoded in the genome of human.


name: TMC5A_HUMAN Transmembrane and coiled-coil domain-containing protein 5A (sprot)

description: A transmembrane and coiled-coil domain-containing protein 5A that is encoded in the genome of human.


congenital stationary night blindness

description: A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.


name: X-linked lymphoproliferative disease due to XIAP deficiency

description: A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.


anterior spinal artery syndrome

description: Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)


name: P2R3B_HUMAN Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta (sprot)

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


name: SHSA2_HUMAN Protein shisa-2 homolog (sprot)

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


SYNJ2_HUMAN Synaptojanin-2 (sprot)

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


name: PGPI_HUMAN Pyroglutamyl-peptidase 1 (sprot)

description: A pyroglutamyl-peptidase 1 that is encoded in the genome of human.


renal pelvis carcinoma

description: A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.


description: Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.


FA83A_HUMAN Protein FAM83A (sprot)

A protein FAM83A that is encoded in the genome of human.


ependymoblastoma

description: Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.


name: CP26C_HUMAN Cytochrome P450 26C1 (sprot)

description: A cytochrome P450 26C1 that is encoded in the genome of human.


lung sarcomatoid carcinoma

description: A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.


UDP-xylose

A UDP-sugar having alpha-xylose as the sugar component.  It is an important metabolite in the nucleotide sugar metabolism in animals, plants, fungi, and bacteria.


name: MBLC2_HUMAN Acyl-coenzyme A thioesterase MBLAC2 (sprot)

description: An acyl-coenzyme A thioesterase MBLAC2 that is encoded in the genome of human.


name: PASK_HUMAN PAS domain-containing serine/threonine-protein kinase (sprot)

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


name: TMM88_HUMAN Transmembrane protein 88 (sprot)

description: A transmembrane protein 88 that is encoded in the genome of human.


name: congenital absence of upper arm and forearm with hand present

description: A congenital malformation in which the upper portion of a limb is either shortened or absent.


description: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.


name: NDUB2_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial that is encoded in the genome of human.


giant cell glioblastoma

description: A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)


name: DYRK4_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 4 (sprot)

description: A dual specificity tyrosine-phosphorylation-regulated kinase 4 that is encoded in the genome of human.


name: ICA69_HUMAN Islet cell autoantigen 1 (sprot)

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


Respiratory arrest

description: Cessation of breathing function.


name: GPR32_HUMAN Probable G-protein coupled receptor 32 (sprot)

description: A probable G-protein coupled receptor 32 that is encoded in the genome of human.


CO4A_HUMAN Complement C4-A (sprot)

A complement C4-A that is encoded in the genome of human.


name: CBPC3_HUMAN Cytosolic carboxypeptidase 3 (sprot)

description: A cytosolic carboxypeptidase 3 that is encoded in the genome of human.


Sturge-Weber syndrome

description: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.