MHC class I deficiency

description: Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.


Williams syndrome

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

description: A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)


cerebrooculofacioskeletal syndrome 4

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.


Miller-Dieker lissencephaly syndrome

description: A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.


name: T-B+ severe combined immunodeficiency due to JAK3 deficiency

description: Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.


lymphoproliferative syndrome 1

description: A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..


Rare Neoplastic Syndrome

description: A broad classification for uncommon disorders in which the development of neoplasms occur in association with a characteristic set of signs or symptoms. These disorders commonly have a genetic basis. The types of neoplasms themselves are not necessarily uncommon.


complex regional pain syndrome type 1

description: Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.


Ogden syndrome

description: Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.


description: The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.


name: Gray syndrome from chloramphenicol administration in newborn

description: A disorder observed in a newborn who was exposed to chloramphenicol. Manifestations include hypotension, cyanosis, cardiovascular collapse and/or death.


congenital disorder of glycosylation

description: Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.


description: A form of drug hypersensitivity syndrome caused by anti-convulsants.


immunodeficiency 104

description: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.


Carney triad

description: Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.


mucopolysaccharidosis type 3B

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.


Denys-Drash syndrome

description: Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.


Hypomorphic RAG1 Deficiency

description: A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.


name: central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

description: A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.


acrocallosal syndrome

description: Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


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: chromosome 8-derived supernumerary ring/marker

description: Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.


CLOVES syndrome

description: A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.


name: Hereditary Transthyretin Amyloidosis with Polyneuropathy

description: A rare, progressive, autosomally dominant inherited peripheral neuropathy caused by mutations in the TTR gene encoding transthyretin (prealbumin).  It is characterized by deposition of amyloid fibrils in the peripheral nervous system.


familial amyloid neuropathy

description: A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.


Neonatal Graves' disease

description: Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody.


Astler-Coller C2 Rectal Carcinoma

description: Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0).  N1: Metastasis in 1 to 3 regional lymph nodes.  N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)


adult kidney Wilms tumor

description: Wilms tumor of the kidney which occurs in adults.


Sinonasal Mucosal Melanoma

description: Melanoma that arises from the mucosal surface of the nasal cavity and paranasal sinus.


name: Open fracture of shaft of metacarpal bone

description: A traumatic break in the diaphysis of the metacarpal bone that involves a break in the adjacent skin.


name: protein mono-ADP-ribosyltransferase PARP14 methylated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP14 (human) that has been methylated on the residue at the position equivalent to Cys-1115 of the amino acid sequence represented by UniProtKB:Q460N5-6. Example: UniProtKB:Q460N5-6, Cys-1115, MOD:00660.


name: receptor tyrosine-protein kinase erbB-2 sequence variant R896C, signal peptide removed form (human)

description: A receptor tyrosine-protein kinase erbB-2 (human) that has a Cys residue at the position equivalent to Arg-896 of the amino acid sequence represented by UniProtKB:P04626-1 and that has had the signal peptide removed. Example: UniProtKB:P04626-1, 23-1255, Arg-896, CHEBI:29950.


name: metaphyseal chondrodysplasia, Jansen type

description: Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.


name: voltage-dependent L-type calcium channel subunit alpha-1C isoform h37 (human)

description: A voltage-dependent L-type calcium channel subunit alpha-1C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13936-37.


titanium oxides

A class containing any titanium molecular entity that is an oxide of titanium.


titanium dioxide nanotube

A nanotube consisting of titanium dioxide.


titanium dioxide nanoparticle

A nanoparticle consisting of titanium dioxide.


Grade 1 Urethra Obstruction, CTCAE

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


name: sodium/glucose cotransporter 2 sequence variant N654S (human)

description: A sodium/glucose cotransporter 2 (human) that has a Ser residue at the position equivalent to Asn-654 of the amino acid sequence represented by UniProtKB:P31639-1. Example: UniProtKB:P31639-1, Asn-654, CHEBI:29999.


name: glutamate receptor ionotropic, NMDA 2B N-glycosylated 9 (rat)

description: A glutamate receptor ionotropic, NMDA 2B (rat) that has been N-glycosylated at the residue equivalent to Asn-688 of the amino acid sequence represented by UniProtKB:Q00960-1, in which the glycan composition is represented by GlyTouCan:G62765YT. Example: UniProtKB:Q00960-1, Asn-688, MOD:00160~GNO:G62765YT.


name: leukotriene A-4 hydrolase isoform 1 (mouse)

description: A leukotriene A-4 hydrolase isoform 1 that is encoded in the genome of mouse.


serine/threonine-protein kinase 3

A protein that is a translation product of the human STK3 gene or a 1:1 ortholog thereof.


name: serine/threonine-protein kinase 3 deaminated 1 (human)

description: A serine/threonine-protein kinase 3 (human) that has been deaminated on the residue at the position equivalent to Asn-280 of the amino acid sequence represented by UniProtKB:Q13188-1. Example: UniProtKB:Q13188-1, Asn-280, MOD:00684.


name: serine/threonine-protein kinase 3 isoform h1 (human)

description: A serine/threonine-protein kinase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13188-1.


name: serine/threonine-protein kinase 3 isoform m2 (mouse)

description: A serine/threonine-protein kinase 3 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9JI10-2.


name: serine/threonine-protein kinase 3 36kDa subunit (human)

description: A serine/threonine-protein kinase 3 36kDa subunit in human. Example: UniProtKB:Q13188-1, 1-322, Thr-180, MOD:00047.


name: serine/threonine-protein kinase 3 phosphorylated 2 (human)

description: A serine/threonine-protein kinase 3 (human) that has been phosphorylated on the residue at the position equivalent to Thr-180 of the amino acid sequence represented by UniProtKB:Q13188. UniProtKB:Q13188, Thr-180, MOD:00047.


name: serine/threonine-protein kinase 3 isoform m1 (mouse)

description: A serine/threonine-protein kinase 3 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9JI10-1.


name: serine/threonine-protein kinase 3 isoform h2 (human)

description: A serine/threonine-protein kinase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13188-2.


name: serine/threonine-protein kinase 3 phosphorylated 1 (human)

description: A serine/threonine-protein kinase 3 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-81 of the amino acid sequence represented by UniProtKB:Q13188-1. Example: UniProtKB:Q13188-1, Tyr-81, MOD:00048.


FHL1-related myopathy

description: A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.


name: myopathy, reducing body, X-linked, childhood-onset


name: myopathy, reducing body, X-linked, early-onset, severe


name: Grade 2 Mucosa Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Placental Villous Fibrosis

description: Increased density of placental villous stroma, often with decreased capillarization compared to what would be expected for gestational age.


name: tissue-type plasminogen activator N-glycosylated 68 (human)

description: A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G91905FJ. Example: UniProtKB:P00750-1, Asn-219, MOD:00160~GNO:G91905FJ.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A

description: A protein that is a translation product of the human PDE1A gene or a 1:1 ortholog thereof.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h6 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-6.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h3 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-3.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h2 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-2.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A, initiator methionine removed form (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that has had the initiator methionine removed. UniProtKB:P54750, 2-535.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h7 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-7.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h5 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-5.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h1 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-1.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h8 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-8.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h9 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-9.


name: dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h4 (human)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54750-4.


Grade 3 Colon Adenocarcinoma

description: A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.


name: Grade 3 Cytokine Release Syndrome, CTCAE

description: Hypotension managed with one pressor; hypoxia requiring >= 40% O2


dengue virus genome polyprotein

A protein that is a translation product of the dengue virus serotype 2 genomic RNA or a 1:1 ortholog thereof.


prM (Dengue virus 2 Thailand/16681/84)

A prM in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 115-280, Asn-183, MOD:00160.


NS4A (Dengue virus 2 Thailand/16681/84)

An NS4A in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 2094-2220.


NS4B (Dengue virus 2 Thailand/16681/84)

An NS4B in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 2244-2491.


name: M protein (Dengue virus 2 Thailand/16681/84)

description: An M protein in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 206-280.


NS2A (Dengue virus 2 Thailand/16681/84)

An NS2A in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 1128-1345.


disorder of glutamate decarboxylase

description: A disease that has its basis in the disruption of glutamate decarboxylase activity.


name: Grade 1 Hepatic Vein Intra-Operative Injury, CTCAE


tendon sheath lipoma

description: A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.


benign synovial neoplasm

description: A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.


name: tenosynovial giant cell tumor, localized type

description: A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.


name: tenosynovial giant cell tumor, diffuse type

description: A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.


intestinal hypomagnesemia 1

description: Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.


(S)-bopindolol

A 1-(tert-butylamino)-3-[(2-methyl-1H-indol-4-yl)oxy]propan-2-yl benzoate that has S-configuration.


imidazobenzazepine

Any organic heterotricyclic compound that consists of an imidazole ring ortho-fused to a benzazepine.


CHLORPROMAZINE HYDROCHLORIDE

The hydrochloride salt of chlorpromazine.


name: 2-chloro-10-phenothiazinecarboxylic acid ethyl ester


dibenzooxazepine

An organic heterotricyclic compound consisting of two benzene rings fused to a seven-membered ring containing one oxygen and one nitrogen atom.


organic heterotricyclic compound

An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms.


A member of the class of phenothiazines that is 4aH-phenothiazine substituted by dimethylamino groups at positions 3 and 7.


A member of the class of aminoacridines that is acridin-9-amine substituted by [(furan-2-yl)methyl]amino and ethoxy groups at positions 3 and 7, respectively. It is a lysine deficient protein kinase (WNK) signaling inhibitor (IC50 = 16 muM).


ACRIDINE ORANGE

A member of the class of aminoacridines that is acridine carrying two dimethylamino substituents at positions 3 and 6. The hydrochloride salt is the fluorescent dye 'acridine orange', used for cell cycle determination.


(R)-profenamine

The (R)-enantiomer of profenamine.


pacatal

A phenothiazine derivative in which 10H-phenothiazine has an N-methylpiperidin-4-ylmethyl substituent at the N-10 position.


A member of the class of rifamycins that is obtained by formal N-hydroxylation at position 2' of rifampicin.


IMINOSTILBENE

A mancude organic heterotricyclic parent that consists of a seven-membered nitrogen hetrocycle fused with two benzene rings.


acridine yellow cation

The monoprotonated form of 2,7-dimethylacridine-3,6-diamine.


pyridoisoquinoline

An organic heterotricyclic compound with a skeleton derived from a pyridine ring fused to an isoquinoline.


ATTO 465-2(1+)

The cationic form of 3,6-diamino-10-(3-carboxypropyl)acridine.


(S)-aceprometazine

The (S)-enantiomer of aceprometazine.


(S)-mosapramine

A 1'-[3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)propyl]hexahydro-2H-spiro[imidazo[1,2-a]pyridine-3,4'-piperidin]-2-one that has (S)-configuration.


promazine sulfoxide

A member of the class of  phenothiazines that is promazine carrying an oxo group at position 5. It is a metabolite of the anti-psychotic medication, chlorpromazine.


A member of the class of dibenzoazepines that is the amide formed from formal condensation of the carboxy group of 2,2-dimethyl-3-oxo-3-[(2,2,3,3,3-pentafluoropropyl)amino]propanoic acid with the amino group of (7S)-7-amino-5,7-dihydrodibenzo[b,d]azepin-6-one.


A organic heterotricyclic compound that is 5-methyl-3-(morpholin-4-ylmethyl)-2,3-dihydro[1,4]oxazino[2,3,4-hi]indole substituted at position 6 by a 1-naphthylcarbonyl group.


(R)-tianeptine

The R-enantiomer of tianeptine.


imidazobenzodiazepine

Any organic heterotricyclic compound that is any benzodiazepine which is ortho-fused with a imidazole.


psoralens

A furanocoumarin with a 7H-furo[3,2-g]chromen-7-one skeleton and its substituted derivatives thereof.


furanocoumarin

Any furochromene that consists of a furan ring fused with a coumarin. The fusion may occur in different ways in give several isomers.


O-(ADP-D-ribosyl) derivative of rifampicin; major species at pH 7.3.


dithiadene

An organic heterotricyclic compound that is 4,9-dihydrothieno[2,3-c][2]benzothiepine substituted by a 3-(dimethylamino)propylidene group at position 4.


homofenazine

A phenothiazine derivative having a trifluoromethyl subsitituent at the 2-position and a 3-[4-(2-hydroxyethyl)diazepin-1-yl]propyl group at the N-10 position.


A benzocycloheptapyridine that is benzo[5,6]cyclohepta[1,2-b]pyridine which is substituted at positions 3 and 10 by bromines, at position 8 by chlorine, and at position 11 by an N-acetylpiperidin-4-yl group in which one of the hydrogens of the acetyl moiety has been replaced by a 1-carbamoylpiperidin-4-yl group.


acridine orange cation

The monoprotonated form of 3,6-bis(dimethylamino)acridine.


27-O-demethylrifamycin SV

A member of the class of rifamycins that is rifamycin SV lacking the O-methyl group at position 27.


tetrabenazine

A benzoquinolizine that is 1,2,3,4,4a,9,10,10a-octahydrophenanthrene in which the carbon at position 10a is replaced by a nitrogen and which is substituted by an isobutyl group at position 2, an oxo group at position 3, and methoxy groups at positions 6 and 7.


(S)-etodolac

The S-enantiomer of etodolac. It is a preferential inhibitor of cyclo-oxygenase 2 and a non-steroidal anti-inflammatory, whereas the enantiomer, (R)-etodolac, is inactive. The racemate is commonly used for the treatment of rheumatoid arthritis and osteoarthritis, and for the alleviation of postoperative pain.


(R)-carprofen

The (R)-(-)-enantiomer of carprofen.


(S)-carprofen

The (S)-(+)-enantiomer of carprofen.


pyranobenzodioxin

Any organic heterotricyclic compound whose core skeleton consists of a benzodioxin ring that is ortho-fused to a pyran ring.


ATTO 495-2(1+)

The cationic form of 10-(3-carboxypropyl)-3,6-bis(dimethylamino)acridine.


Δ9-Tetrahydrocannabinolic acid

A diterpenoid that is 6a,7,8,10a-tetrahydro-6H-benzo[c]chromene substituted at position 1 by a hydroxy group, positions 6, 6 and 9 by methyl groups and at position 3 by a pentyl group. A biosynthetic precursor to Delta(9)-tetrahydrocannabinol, the principal psychoactive constituent of the cannabis plant.


furanochromone

An organic heterotricyclic compound that is chromone which is ortho-fused to a furan ring and its substituted derivatives thereof.


(R)-aceprometazine

The (R)-enantiomer of aceprometazine.


(R)-mosapramine

A 1'-[3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)propyl]hexahydro-2H-spiro[imidazo[1,2-a]pyridine-3,4'-piperidin]-2-one that has (R)-configuration.


pyridochromene

An organic heterotricyclic compound composed of a pyridine ring fused to a chromene.


propyromazine

A racemate comprising equimolar amounts of (R)- and (S)-propyromazine.


metofenazate

A phenothiazine derivative having a chloro subsitituent at the 2-position and a 4-substituted 3-(piperazin-1-yl)propyl group at the N-10 position.


HYDROMETHYLTHIONINE

A member of the class of phenothiazines that is 10H-phenothiazine in which the ring hydrogens at positions 3 and 7 have been replaced by dimethylamino groups.


The R-enantiomer of etodolac. It is inactive, in contrast to the enantiomer, (S)-etodolac, which is a preferential inhibitor of cyclo-oxygenase 2 and a non-steroidal anti-inflammatory. The racemate is commonly used for the treatment of rheumatoid arthritis and osteoarthritis, and for the alleviation of postoperative pain.


(R)-propyromazine

A 1-methyl-1-[1-oxo-1-(10H-phenothiazin-10-yl)propan-2-yl]pyrrolidinium that has R-configuration.


A member of the class of rifamycins that is rifamycin itself in which the hydroxy hydrogen at position 21 has been replaced by a phosphono group.


beta-carbolines

Any pyridoindole containing a beta-carboline skeleton and their hydrogenated derivatives


acridine orange

Fluorescent dye useful for cell cycle determination. It is cell-permeable, and interacts with DNA and RNA by intercalation or electrostatic attractions respectively.


chlorpromazine N-oxide

An organochlorine compound that is chlorpromazine in which the acyclic tertiary amino group has been converted into the corresponding N-oxide.


azepinoindole

Any organic heterotricyclic compound with a skeleton consisting of an azepine ring fused to an indole.


acridine half-mustard

A member of the class of aminoacridines that is acridine which is substituted by a methoxy group at position 2, chlorine at position 6, and a {3-[(2-chloroethyl)amino]propyl}amino group at position 9.


benzoquinolizine

Any organic heterotricyclic compound with a skeleton consisting of a quinolizine fused to a benzene ring.


A furanocoumarin which bears a methoxy group at position 5.


dipyridodiazepine

An organic heterotricyclic compound whose skeleton consists of a diazepine ring which is fused to two pyridine rings.


(S)-tianeptine

The S-enantiomer of tianeptine.


flavin

A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position.


pyridobenzodiazepine

Any three-ring heterocyclic compound with a skeleton consisting of a pyridine ring ortho-fused to a benzodiazepine.


dibenzodiazepine

Any organic heterotricyclic compound with a skeleton consisting of two benzene rings fused to a diazepine ring.


(S)-propyromazine

A 1-methyl-1-[1-oxo-1-(10H-phenothiazin-10-yl)propan-2-yl]pyrrolidinium that has S-configuration.


(S)-profenamine

The (S)-enantiomer of profenamine.


triazolobenzodiazepine

Any organic heterotricyclic compound that is any benzodiazepine which is ortho-fused with a triazole.


A dibenzoazepine that is 5,7-dihydro-6H-dibenzo[b,d]azepin-6-one which is substituted at the 7 pro-S position by the C-terminal carboxamide nitrogen of N(2)-[(2S)-2-(3,5-difluorophenyl)-2-hydroxyacetyl]-L-alaninamide. It is a potent, cell permeable and selective gamma-secretase inhibitor. It has been tested as a possible treatment for Alzheimer's disease and shows promise for its potential to counteract severe hearing loss.


thiopropazate

A phenothiazine derivative in which 10H-phenothiazine has a chloro subsitituent at the 2-position and a 3-[4-(2-acetoxyethyl)piperazin-1-yl]propyl group at N-10.


thioxanthenes

Thioxanthene and its substitution derivatives.


rifampicin

A member of the class of rifamycins that is a a semisynthetic antibiotic derived from Amycolatopsis rifamycinica (previously known as Amycolatopsis mediterranei and Streptomyces mediterranei).


oxazinoquinoline

Any organic heterotricyclic compound based on a skeleton comprised of an oxazine ring fused onto a quinoline system.


CARBAMAZEPINE EPOXIDE

An  epoxide and metabolite of carbamazepine.


LICARBAZEPINE

A dibenzoazepine that is 5H-dibenzo[b,f]azepine, reduced across the C-10,11 positions and carrying a carbamoyl substituent at the azepine nitrogen and a hydroxy function at C-10. A voltage-gated sodium channel blocker with anticonvulsant and mood-stabilizing effects, it is related to oxcarbazepine and is an active metabolite of oxcarbazepine.


Functioning Lung Carcinoid Tumor

description: A lung neuroendocrine tumor that is associated with carcinoid syndrome.


name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

description: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.


name: transient receptor potential cation channel subfamily M member 2 isoform h2 (human)

description: A transient receptor potential cation channel subfamily M member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O94759-2.


name: phosphatidylserine lipase ABHD16A isoform 1 (human)

description: A phosphatidylserine lipase ABHD16A isoform 1 that is encoded in the genome of human.


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.


inborn organic aciduria

description: An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.


3-hydroxyisobutyric aciduria

description: 3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.


maple syrup urine disease

description: An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.


glutaric acidemia type 3

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


description: 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.


3-methylglutaconic aciduria type 3

description: 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.


beta-ketothiolase deficiency

description: Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.


3-methylglutaconic aciduria type 4

description: 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).


name: vitamin B12-responsive methylmalonic acidemia, type cblDv2


name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

description: Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.


methylmalonic aciduria, cblB type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.


name: methylmalonate semialdehyde dehydrogenase deficiency


maple syrup urine disease type 1A

description: A maple syrup urine disease caused by mutations in BCKDHA.


name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

description: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.


name: thiamine-responsive maple syrup urine disease

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


multiple carboxylase deficiency

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


malonic aciduria

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


name: methylmalonic aciduria and homocystinuria

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


name: vitamin B12-unresponsive methylmalonic acidemia type mut0

description: Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


pyruvate dehydrogenase E3 deficiency

description: Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


methylmalonic aciduria, cblA type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.


name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

description: Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.


name: combined malonic and methylmalonic acidemia

description: Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.


name: methylmalonic acidemia with homocystinuria, type cblX


name: methylmalonic aciduria and homocystinuria type cblD

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.


3-methylglutaconic aciduria type 5

description: A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.


maple syrup urine disease type 1B

description: A maple syrup urine disease caused by mutations in BCKDHB.


intermediate maple syrup urine disease

description: Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.


name: methylmalonic aciduria and homocystinuria type cblF

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.


name: methylmalonic aciduria and homocystinuria type cblC

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.


intermittent maple syrup urine disease

description: Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


name: 3-methylcrotonyl-CoA carboxylase 1 deficiency

description: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.


3-methylglutaconic aciduria type 1

description: 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.


name: 3-methylcrotonyl-CoA carboxylase 2 deficiency

description: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.


name: methylmalonic acidemia due to transcobalamin receptor defect

description: Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.


classic maple syrup urine disease

description: Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.


name: methylmalonic acidemia with homocystinuria, type cblJ

description: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4.


maple syrup urine disease type 2

description: A maple syrup urine disease caused by mutations in DBT.


name: vitamin B12-unresponsive methylmalonic acidemia type mut-

description: Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


3-hydroxy-3-methylglutaric aciduria

description: 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.


name: vitamin B12-responsive methylmalonic acidemia

description: Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).


name: MBT domain-containing protein 1 isoform h1 (human)

description: An MBT domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q05BQ5-1.


name: Unresectable Pleural Sarcomatoid Mesothelioma

description: Pleural sarcomatoid mesothelioma that is not amenable to surgical resection.


Pleural Desmoplastic Mesothelioma

description: Malignant mesothelioma that arises from the pleura. It is characterized by the presence of dense collagenized stroma occupying at least 50% of the tumor. The malignant cells are arranged in a vague storiform pattern.


name: Unresectable Peritoneal Epithelioid Mesothelioma

description: Peritoneal epithelioid mesothelioma that is not amenable to surgical resection.


name: Unresectable Paratesticular Sarcomatoid Mesothelioma

description: Paratesticular sarcomatoid mesothelioma that is not amenable to surgical resection.


Paratesticular Epithelioid Mesothelioma

description: A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


Desmoplastic mesothelioma

description: A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of a dense collagenous tissue and atypical neoplastic cells. Sarcomatoid features, collagenous necrosis, and infiltration of muscle and adipose tissue may be present. It occurs in the pleura and less commonly in the peritoneum.


Peritoneal Epithelioid Mesothelioma

description: Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


malignant biphasic mesothelioma

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


name: Unresectable Paratesticular Epithelioid Mesothelioma

description: Paratesticular epithelioid mesothelioma that is not amenable to surgical resection.


Peritoneal Biphasic Mesothelioma

description: Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


name: Unresectable Pleural Biphasic Mesothelioma

description: Pleural biphasic mesothelioma that is not amenable to surgical resection.


name: Unresectable Paratesticular Biphasic Mesothelioma

description: Paratesticular biphasic mesothelioma that is not amenable to surgical resection.


Paratesticular Sarcomatoid Mesothelioma

description: A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


name: Unresectable Peritoneal Sarcomatoid Mesothelioma

description: Peritoneal sarcomatoid mesothelioma that is not amenable to surgical resection.


pleural biphasic mesothelioma

description: Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


Advanced Epithelioid Mesothelioma

description: Epithelioid mesothelioma that has spread extensively to other anatomic sites or is no longer responding to treatment.


sarcomatoid mesothelioma

description: A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


pleural sarcomatoid mesothelioma

description: Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.


Paratesticular Biphasic Mesothelioma

description: A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


name: Unresectable Pleural Epithelioid Mesothelioma

description: Pleural epithelioid mesothelioma that is not amenable to surgical resection.


Recurrent Epithelioid Mesothelioma

description: The reemergence of epithelioid mesothelioma after a period of remission.


pleural epithelioid mesothelioma

description: Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


name: Unresectable Peritoneal Biphasic Mesothelioma

description: Peritoneal biphasic mesothelioma that is not amenable to surgical resection.


Peritoneal Sarcomatoid Mesothelioma

description: Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


malignant epithelioid mesothelioma

description: A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.


oculocutaneous albinism type 4

description: Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.


name: Grade 1 Spine Kyphosis or Lordosis, CTCAE


name: sodium/potassium-transporting ATPase subunit alpha-4 methylated 2 (human)

description: A sodium/potassium-transporting ATPase subunit alpha-4 (human) that has been methylated on the residue at the position equivalent to Glu-295 of the amino acid sequence represented by UniProtKB:Q13733-1. Example: UniProtKB:Q13733-1, Glu-295, MOD:00713.


name: Penile squamous cell carcinoma metastatic

description: Squamous cell carcinoma of the penis that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Penile Squamous Cell Carcinoma

description: Penile squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Nuclear Expression of STAT6 Protein

description: A finding indicating the presence of STAT6 nuclear signal in tumor cells by immunohistochemistry. It results from the fusion of the NAB2 and STAT6 genes.


leptin receptor isoform C (human)

A leptin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48357-3.


Childhood Protoplasmic Astrocytoma

description: A protoplasmic astrocytoma that occurs during childhood.


name: Recurrent Childhood Protoplasmic Astrocytoma

description: The reemergence of protoplasmic astrocytoma in childhood after a period of remission.


name: Grade 5 Esophagus Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Malignant fibrous histiocytoma recurrent

description: Reemergence of undifferentiated pleomorphic sarcoma after a period of remission.


Elevated HMGA2

description: A finding indicating elevated concentrations of HMGA2 in a sample.


name: solute carrier family 22 member 6 isoform h1 (human)

description: A solute carrier family 22 member 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q4U2R8-1.


name: male pseudohermaphroditism due to defective lh molecule


name: T-cell surface glycoprotein CD4 N-glycosylated 4 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G17689DH. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G17689DH.


CD4 molecule

A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence.


name: T-cell surface glycoprotein CD4 N-glycosylated 52 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G87633UQ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G87633UQ.


name: T-cell surface glycoprotein CD4 N-glycosylated 51 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G78059CC.


name: T-cell surface glycoprotein CD4 N-glycosylated 41 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45498YC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G45498YC.


name: T-cell surface glycoprotein CD4 N-glycosylated 47 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G57413FT. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G57413FT.


name: T-cell surface glycoprotein CD4 N-glycosylated 39 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G38756OC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G38756OC.


name: T-cell surface glycoprotein CD4 N-glycosylated 18 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53450AF. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53450AF.


name: T-cell surface glycoprotein CD4 N-glycosylated 16 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45560HM. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G45560HM.


name: T-cell surface glycoprotein CD4 N-glycosylated 48 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G64132UH. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G64132UH.


name: T-cell surface glycoprotein CD4 N-glycosylated 31 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G18188WJ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G18188WJ.


name: T-cell surface glycoprotein CD4 N-glycosylated 34 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G27561QX. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G27561QX.


name: T-cell surface glycoprotein CD4 N-glycosylated 5 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G18188WJ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G18188WJ.


name: T-cell surface glycoprotein CD4 N-glycosylated 45 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53752TA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53752TA.


name: T-cell surface glycoprotein CD4 N-glycosylated 19 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53752TA. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53752TA.


name: CD4 molecule isoform 1 phosphorylated 1 (human)

description: A CD4 molecule isoform 1 phosphorylated 1 in human.


name: T-cell surface glycoprotein CD4 N-glycosylated 38 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G37166HP. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G37166HP.


name: T-cell surface glycoprotein CD4 N-glycosylated 30 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G17689DH. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G17689DH.


name: T-cell surface glycoprotein CD4 N-glycosylated 17 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G52622SW. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G52622SW.


name: T-cell surface glycoprotein CD4 N-glycosylated 28 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G05950HG. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G05950HG.


name: T-cell surface glycoprotein CD4 N-glycosylated 36 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G35599NO. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G35599NO.


name: T-cell surface glycoprotein CD4 N-glycosylated 3 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G07995VK. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G07995VK.


name: T-cell surface glycoprotein CD4 N-glycosylated 37 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G36191CD.


name: T-cell surface glycoprotein CD4 N-glycosylated 21 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G57413FT. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G57413FT.


name: T-cell surface glycoprotein CD4 N-glycosylated 49 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G65890UA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G65890UA.


name: T-cell surface glycoprotein CD4 N-glycosylated 10 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G35599NO. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G35599NO.


name: T-cell surface glycoprotein CD4 N-glycosylated 14 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G44276EF. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G44276EF.


name: T-cell surface glycoprotein CD4 N-glycosylated 29 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G07995VK. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G07995VK.


name: T-cell surface glycoprotein CD4 N-glycosylated 12 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G37166HP. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G37166HP.


name: T-cell surface glycoprotein CD4 N-glycosylated 2 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G05950HG. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G05950HG.


name: T-cell surface glycoprotein CD4 N-glycosylated 27 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G03860PZ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G03860PZ.


name: T-cell surface glycoprotein CD4 N-glycosylated 22 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G64132UH. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G64132UH.


name: T-cell surface glycoprotein CD4 N-glycosylated 35 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G30460NZ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G30460NZ.


name: T-cell surface glycoprotein CD4 N-glycosylated 26 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G87633UQ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G87633UQ.


name: T-cell surface glycoprotein CD4 N-glycosylated 7 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20966IA. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G20966IA.


name: T-cell surface glycoprotein CD4 N-glycosylated 15 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45498YC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G45498YC.


name: T-cell surface glycoprotein CD4 N-glycosylated 50 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G77252PU. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G77252PU.


name: T-cell surface glycoprotein CD4 N-glycosylated 20 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53962WT. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53962WT.


name: T-cell surface glycoprotein CD4 N-glycosylated 44 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53450AF. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53450AF.


name: T-cell surface glycoprotein CD4 N-glycosylated 6 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20779SK. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G20779SK.


name: T-cell surface glycoprotein CD4 N-glycosylated 24 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G77252PU. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G77252PU.


name: T-cell surface glycoprotein CD4 N-glycosylated 1 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G03860PZ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G03860PZ.


name: T-cell surface glycoprotein CD4 N-glycosylated 42 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45560HM. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G45560HM.


name: T-cell surface glycoprotein CD4 N-glycosylated 13 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G38756OC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G38756OC.


name: T-cell surface glycoprotein CD4 N-glycosylated 8 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G27561QX. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G27561QX.


name: T-cell surface glycoprotein CD4 N-glycosylated 40 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G44276EF. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G44276EF.


name: T-cell surface glycoprotein CD4 isoform 1 (human)

description: A CD4 molecule isoform 1 that is encoded in the genome of human.


name: T-cell surface glycoprotein CD4 N-glycosylated 46 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53962WT. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53962WT.


name: T-cell surface glycoprotein CD4 N-glycosylated 32 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20779SK. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G20779SK.


name: T-cell surface glycoprotein CD4 N-glycosylated 33 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20966IA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G20966IA.


name: T-cell surface glycoprotein CD4 N-glycosylated 25 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G78059CC.


name: T-cell surface glycoprotein CD4 N-glycosylated 9 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G30460NZ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G30460NZ.


name: CD4 molecule, signal peptide removed form (human)

description: A CD4 molecule, signal peptide removed form in human. UniProtKB:P01730, 26-458.


name: T-cell surface glycoprotein CD4 N-glycosylated 43 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G52622SW. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G52622SW.


name: T-cell surface glycoprotein CD4 N-glycosylated 11 (human)

description: A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G36191CD.


Skin Infection, CTCAE

description: A disorder characterized by an infectious process involving the skin such as cellulitis.


Grade 1 Skin Infection, CTCAE

description: Localized, local intervention indicated


Grade 2 Skin Infection, CTCAE

description: Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)


Grade 3 Skin Infection, CTCAE

description: IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated


Grade 4 Skin Infection, CTCAE

description: Life-threatening consequences; urgent intervention indicated


Grade 5 Skin Infection, CTCAE

description: Death


voltage-gated potassium channel KCNC1

A shaw-related voltage-gated potassium channel alpha subunit that is a translation product of the human KCNC1 gene or a 1:1 ortholog thereof. They contain an ATM motif at the C-terminus, following the S6 segment that allows interaction with axonal targeting machinery when exposed.


name: potassium voltage-gated channel subfamily C member 1 isoform h2 (human)

description: A potassium voltage-gated channel subfamily C member 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48547-2.


name: potassium voltage-gated channel subfamily C member 1, isoform Short (mouse)

description: A voltage-gated potassium channel KCNC1 isoform Short that is encoded in the genome of mouse.


name: voltage-gated potassium channel KCNC1 isoform Long phosphorylated 1 (rat)

description: A voltage-gated potassium channel KCNC1 isoform Long phosphorylated 1 in rat. UniProtKB:P25122-1, Ser-503, MOD:00046.


name: potassium voltage-gated channel subfamily C member 1 isoform 1 (human)

description: A voltage-gated potassium channel KCNC1 isoform Short that is encoded in the genome of human.


name: potassium voltage-gated channel subfamily C member 1 isoform Long (rat)

description: A voltage-gated potassium channel KCNC1 isoform Long that is encoded in the genome of rat.


name: potassium voltage-gated channel subfamily C member 1 isoform Short (rat)

description: A voltage-gated potassium channel KCNC1 isoform Short that is encoded in the genome of rat.


name: potassium voltage-gated channel subfamily C member 1, isoform Long (mouse)

description: A voltage-gated potassium channel KCNC1 isoform Long that is encoded in the genome of mouse.


name: voltage-gated potassium channel KCNC1 isoform Long unphosphorylated 1 (rat)

description: A potassium voltage-gated channel subfamily C member 1 isoform Long (rat) that lacks phosphorylation on Ser-503. UniProtKB:P25122-1, Ser-503, PR:000026291.


silicone macromolecule

Macromolecular or oligomeric derivatives of siloxanes, usually considered unbranched, of general formula [-OSiR2-]n (R =/= H).


polydimethylsiloxane macromolecule

A fully methylated siloxane macromolecule.


Hard Palate Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the hard palate.  It usually presents as a papillary or exophytic mass.


Squamous cell carcinoma of palate

description: A squamous cell carcinoma that arises from the hard or soft palate.


sebaceous gland neoplasm

description: A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.


sebaceous gland cancer

description: A cancer that involves the sebaceous gland.


benign neoplasm of sebaceous gland

description: A benign neoplasm that involves the sebaceous gland.


name: Grade 2 Pneumonitis and Pulmonary Infiltrates, CTCAE


Gastric Granular Cell Tumor

description: A benign or malignant granular cell tumor that arises from the stomach.


Benign Gastric Granular Cell Tumor

description: A granular cell tumor that arises from the stomach and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


name: G protein-activated inward rectifier potassium channel

description: An inwardly rectifying potassium channel protein that has core architecture consisting of an Inward rectifier potassium channel domain (Pfam:PF01007), which may be preceeded by an Inward rectifier potassium channel N-terminal domain (Pfam:PF08466).


name: G protein-activated inward rectifier potassium channel 2 isoform mGIRK2A (mouse)

description: A G protein-activated inward rectifier potassium channel 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48542-1.


name: G protein-activated inward rectifier potassium channel 2 isoform mGIRK2C (mouse)

description: A G protein-activated inward rectifier potassium channel 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48542-4.


name: ATP-sensitive inward rectifier potassium channel 11

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ11 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 11 isoform h2 (human)

description: An ATP-sensitive inward rectifier potassium channel 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14654-2.


name: G protein-activated inward rectifier potassium channel 1 isoform 1 (human)

description: A G protein-activated inward rectifier potassium channel 1 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 1

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ1 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 8

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ8 gene or a 1:1 ortholog thereof.


name: G protein-activated inward rectifier potassium channel 2 isoform mGIRK2B (mouse)

description: A G protein-activated inward rectifier potassium channel 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48542-3.


name: G protein-activated inward rectifier potassium channel 1

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ3 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 1 isoform h2 (human)

description: An ATP-sensitive inward rectifier potassium channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48048-2.


name: ATP-sensitive inward rectifier potassium channel 10 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 10 isoform 1 that is encoded in the genome of human.


name: G protein-activated inward rectifier potassium channel 2 isoform mGIRK2-1 (mouse)

description: A G protein-activated inward rectifier potassium channel 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48542-2.


name: G protein-activated inward rectifier potassium channel 2 isoform mGIRK2D (mouse)

description: A G protein-activated inward rectifier potassium channel 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48542-5.


name: ATP-sensitive inward rectifier potassium channel 11 isoform 1 (mouse)

description: An ATP-sensitive inward rectifier potassium channel 11 isoform 1 that is encoded in the genome of mouse.


inward rectifier potassium channel 4

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ4 gene or a 1:1 ortholog thereof.


name: ATP-sensitive inward rectifier potassium channel 11 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 11 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 8 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 8 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 1 isoform 1 (human)

description: An ATP-sensitive inward rectifier potassium channel 1 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 1 isoform h3 (human)

description: An ATP-sensitive inward rectifier potassium channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48048-3.


name: G protein-activated inward rectifier potassium channel 4

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ5 gene or a 1:1 ortholog thereof.


name: G protein-activated inward rectifier potassium channel 1 isoform h2 (human)

description: A G protein-activated inward rectifier potassium channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48549-2.


name: G protein-activated inward rectifier potassium channel 4 isoform 1 (human)

description: A G protein-activated inward rectifier potassium channel 4 isoform 1 that is encoded in the genome of human.


name: ATP-sensitive inward rectifier potassium channel 10

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ10 gene or a 1:1 ortholog thereof.


name: inward rectifier potassium channel 4 phosphorylated 1 (human)

description: An inward rectifier potassium channel 4 (human) that has been phosphorylated at Tyr-234. UniProtKB:P48050, Tyr-234, MOD:00048.


name: G protein-activated inward rectifier potassium channel 2

description: A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ6 gene or a 1:1 ortholog thereof.


TARP syndrome

description: A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.


name: Grade 2 Neonatal Coagulation Disorder, AE

description: An adverse event in a newborn characterized by biochemical coagulation abnormalities with clinical signs; requiring increased monitoring.


name: Grade 1 Abdomen NOS Intra-Operative Injury, CTCAE


Stage IV Penile Cancer AJCC v6

description: Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1).  T4: Tumor invades other adjacent structures.  N3: Metastasis in deep inguinal or pelvic lymph node(s) unilateral or bilateral.  M1: Distant metastasis.  (AJCC 6th ed.)


Penile Cancer by AJCC v6 Stage

description: A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 6th edition.


Stage III Penile Cancer AJCC v6

description: Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0).  T1: Tumor invades subepithelial connective tissue.  T2: Tumor invades corpus spongiosum or cavernosum.  T3: Tumor invades urethra or prostate.  N0: No regional lymph node metastasis.  N1: Metastasis in single superficial, inguinal lymph node. N2: Metastasis in multiple or bilateral superficial inguinal lymph nodes.  M0: No distant metastasis. (AJCC 6th ed.)


Stage I Penile Cancer AJCC v6

description: Stage I includes: (T1, N0, M0).  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th ed.)


Stage II Penile Cancer AJCC v6

description: Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0).  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis.  N1: Metastasis in a single superficial, inguinal lymph node.  M0: No distant metastasis. (AJCC 6th ed.)


Stage 0 Penile Cancer AJCC v6

description: Stage 0 includes: (Tis, N0, M0) and (Ta, N0, M0).  Tis: Carcinoma in situ.  Ta: Non-invasive verrucous carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th ed.)


acute cholinergic dysautonomia

description: A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.


primary dysautonomia

description: Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.


chromosome 17p deletion

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.


distal 17p13.3 microdeletion syndrome

description: Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.


chromosome 17q12 deletion syndrome

description: 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.


distal 17p13.1 microdeletion syndrome

description: Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.


name: chromosome 17q23.1-q23.2 deletion syndrome

description: 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.


name: Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


name: chromosome 17q11.2 deletion syndrome, 1.4Mb

description: A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.


name: partial deletion of the long arm of chromosome 17


name: hereditary neuropathy with liability to pressure palsies

description: Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.


distal monosomy 17q

description: Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).


17q24.2 microdeletion syndrome

description: A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.


inherited cutis laxa

description: An instance of cutis laxa that is inherited.


cutis laxa, autosomal dominant 1

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.


autosomal recessive cutis laxa type 2

description: A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).


ALDH18A1-related de Barsy syndrome

description: ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.


cutis laxa, autosomal dominant 3

description: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.


occipital horn syndrome

description: Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.


name: cutis laxa, autosomal recessive, type 2E


wrinkly skin syndrome

description: A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).


acquired cutis laxa

description: An instance of cutis laxa that is acquired during the lifetime of the individual.


name: cutis laxa, autosomal recessive, type 1B

description: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.


geroderma osteodysplastica

description: Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.


name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

description: A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13


craniofaciofrontodigital syndrome

description: Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).


name: autosomal recessive cutis laxa type 2, classic type


autosomal dominant cutis laxa

description: Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.


autosomal recessive cutis laxa type 2D

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.


name: cutis laxa, autosomal recessive, type 1A

description: An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.


arterial tortuosity syndrome

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