oxazinoquinoline

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


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

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A lung carcinoid tumor that is associated with carcinoid syndrome.


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

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.


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

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.


phosphatidylserine lipase ABHD16A isoform 1 (human)

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


multiple mitochondrial dysfunctions syndrome 6


inborn organic aciduria

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


3-hydroxyisobutyric aciduria

3 hydroxyisobutyric aciduria is characterised 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.


glutaric acidemia type 3

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.


Canavan disease

A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.


aminoacylase 1 deficiency

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


HSD10 disease, neonatal type

HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised 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.


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

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


methylmalonic aciduria, cblB type

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.


methylmalonate semialdehyde dehydrogenase deficiency


maple syrup urine disease type 1A

A maple syrup urine disease caused by mutations in BCKDHA.


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

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.


thiamine-responsive maple syrup urine disease

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

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.


fatal multiple mitochondrial dysfunctions syndrome

Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.


malonic aciduria

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


methylmalonic aciduria and homocystinuria

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).


disorder of fatty acid oxidation and ketogenesis


inherited lipoic acid biosynthesis defect

An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.


vitamin B12-unresponsive methylmalonic acidemia type mut0

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.


HSD10 mitochondrial disease

A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


2-hydroxyglutaric aciduria

2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.


cerebral organic aciduria

A inherited organic acidemia that involves the brain.


maple syrup urine disease

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.


mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes.


methylmalonic aciduria, cblA type

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


methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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-.


medium chain acyl-CoA dehydrogenase deficiency

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.


d-2-hydroxyglutaric aciduria 2

Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


combined malonic and methylmalonic acidemia

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.


methylmalonic acidemia with homocystinuria, type cblX


HSD10 disease, infantile type

HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.


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.


methylmalonic aciduria and homocystinuria type cblD

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


severe Canavan disease

Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.


Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.


3-methylglutaconic aciduria type 5

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.


3-methylglutaconic aciduria type 3

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


D-2-hydroxyglutaric aciduria 1

Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.


mild Canavan disease

Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.


beta-ketothiolase deficiency

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.


maple syrup urine disease type 1B

A maple syrup urine disease caused by mutations in BCKDHB.


intermediate maple syrup urine disease

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.


methylmalonic aciduria and homocystinuria type cblF

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.


methylmalonic aciduria and homocystinuria type cblC

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.


systemic primary carnitine deficiency disease

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.


intermittent maple syrup urine disease

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.


3-methylcrotonyl-CoA carboxylase 1 deficiency

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


inborn aminoacylase deficiency

An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.


3-methylglutaconic aciduria type 1

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.


multiple mitochondrial dysfunctions syndrome 5


3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


3-methylglutaconic aciduria type 4

3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised 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).


3-methylcrotonyl-CoA carboxylase 2 deficiency

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


transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.


methylmalonic acidemia due to transcobalamin receptor defect

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.


multiple mitochondrial dysfunctions syndrome 1

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.


multiple mitochondrial dysfunctions syndrome 2

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.


D,L-2-hydroxyglutaric aciduria

D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.


multiple mitochondrial dysfunctions syndrome 4

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


classic maple syrup urine disease

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.


methylmalonic acidemia with homocystinuria, type cblJ

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


multiple mitochondrial dysfunctions syndrome 3

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.


maple syrup urine disease type 2

A maple syrup urine disease caused by mutations in DBT.


short chain acyl-CoA dehydrogenase deficiency

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.


acyl-CoA dehydrogenase 9 deficiency

A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


vitamin B12-unresponsive methylmalonic acidemia type mut-

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

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.


dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


vitamin B12-responsive methylmalonic acidemia

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).


vitamin B12-responsive methylmalonic acidemia, type cblDv2


carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


MBT domain-containing protein 1 isoform h1 (human)

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.


Unresectable Pleural Sarcomatoid Mesothelioma

Pleural sarcomatoid mesothelioma that is not amenable to surgical resection.


Pleural Desmoplastic Mesothelioma

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.


Unresectable Peritoneal Epithelioid Mesothelioma

Peritoneal epithelioid mesothelioma that is not amenable to surgical resection.


Unresectable Paratesticular Sarcomatoid Mesothelioma

Paratesticular sarcomatoid mesothelioma that is not amenable to surgical resection.


Paratesticular Epithelioid Mesothelioma

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

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

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

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


Unresectable Paratesticular Epithelioid Mesothelioma

Paratesticular epithelioid mesothelioma that is not amenable to surgical resection.


Peritoneal Biphasic Mesothelioma

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.


Unresectable Pleural Biphasic Mesothelioma

Pleural biphasic mesothelioma that is not amenable to surgical resection.


Unresectable Paratesticular Biphasic Mesothelioma

Paratesticular biphasic mesothelioma that is not amenable to surgical resection.


Paratesticular Sarcomatoid Mesothelioma

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.


Unresectable Peritoneal Sarcomatoid Mesothelioma

Peritoneal sarcomatoid mesothelioma that is not amenable to surgical resection.


pleural biphasic mesothelioma

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

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


sarcomatoid mesothelioma

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

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

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.


Unresectable Pleural Epithelioid Mesothelioma

Pleural epithelioid mesothelioma that is not amenable to surgical resection.


Recurrent Epithelioid Mesothelioma

The reemergence of epithelioid mesothelioma after a period of remission.


pleural epithelioid mesothelioma

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.


Unresectable Peritoneal Biphasic Mesothelioma

Peritoneal biphasic mesothelioma that is not amenable to surgical resection.


Peritoneal Sarcomatoid Mesothelioma

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

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

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.


Grade 1 Spine Kyphosis or Lordosis, CTCAE

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon


Metastatic Squamous Cell Carcinoma of the Penis

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


Nuclear Expression of STAT6 Protein

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

A protoplasmic astrocytoma that occurs during childhood.


Recurrent Childhood Protoplasmic Astrocytoma

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


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


Malignant fibrous histiocytoma recurrent

Reemergence of undifferentiated pleomorphic sarcoma after a period of remission.


Elevated HMGA2

A finding indicating elevated concentrations of HMGA2 in a sample.


solute carrier family 22 member 6 isoform h1 (human)

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.


male pseudohermaphroditism due to defective lh molecule


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


CD4 molecule isoform 1 phosphorylated 1 (human)

A CD4 molecule isoform 1 phosphorylated 1 in human.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


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

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.


T-cell surface glycoprotein CD4 isoform 1 (human)

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


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

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.


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

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.


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

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.


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

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.


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

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.


CD4 molecule, signal peptide removed form (human)

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


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

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.


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

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

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


Grade 1 Skin Infection, CTCAE

Localized, local intervention indicated


Grade 2 Skin Infection, CTCAE

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


Grade 3 Skin Infection, CTCAE

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


Grade 4 Skin Infection, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 5 Skin Infection, CTCAE

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.


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

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.


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

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


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

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


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

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


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

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


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

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


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

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


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

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

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


Squamous cell carcinoma of palate

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


palpebral sebaceous gland tumor

A neoplasm (disease) that involves the sebaceous gland of eyelid.


sebaceous gland neoplasm

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


sebaceous gland cancer

A cancer that involves the sebaceous gland.


benign neoplasm of sebaceous gland

A benign neoplasm that involves the sebaceous gland.


Grade 2 Pneumonitis and Pulmonary Infiltrates, CTCAE


Gastric Granular Cell Tumor

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


Benign Gastric Granular Cell Tumor

A non-metastasizing neoplasm arising from the gastric wall.  It is characterized by the presence of large polygonal cells with abundant granular cytoplasm.


G protein-activated inward rectifier potassium channel

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).


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

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.


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

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.


ATP-sensitive inward rectifier potassium channel 11

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


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

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.


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

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


ATP-sensitive inward rectifier potassium channel 1

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


ATP-sensitive inward rectifier potassium channel 8

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


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

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.


G protein-activated inward rectifier potassium channel 1

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


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

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.


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

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


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

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.


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

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.


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

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.


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

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


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

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


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

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


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

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.


G protein-activated inward rectifier potassium channel 4

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


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

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.


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

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


ATP-sensitive inward rectifier potassium channel 10

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


inward rectifier potassium channel 4 phosphorylated 1 (human)

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


G protein-activated inward rectifier potassium channel 2

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

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.


Grade 2 Neonatal Coagulation Disorder, AE

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


Grade 1 Abdomen NOS Intra-Operative Injury, CTCAE


Stage IV Penile Cancer AJCC v6

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

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

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

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

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

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

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


primary dysautonomia

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

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

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

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

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.


chromosome 17q23.1-q23.2 deletion syndrome

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


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


chromosome 17q11.2 deletion syndrome, 1.4Mb

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.


partial deletion of the long arm of chromosome 17


hereditary neuropathy with liability to pressure palsies

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

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

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

An instance of cutis laxa that is inherited.


cutis laxa, autosomal dominant 1

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

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

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


cutis laxa, autosomal dominant 3

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

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.


cutis laxa, autosomal recessive, type 2E


wrinkly skin syndrome

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

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


PYCR1-related de Barsy syndrome

Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


cutis laxa, autosomal recessive, type 1B

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

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.


cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

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

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).


autosomal recessive cutis laxa type 2, classic type


autosomal dominant cutis laxa

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

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.


cutis laxa, autosomal recessive, type 1A

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

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.


autosomal recessive cutis laxa type 2B

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.


RIN2 syndrome

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.


autosomal recessive cutis laxa type 2A

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.


autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).


cutis laxa, autosomal dominant 2

Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


autosomal recessive cutis laxa type 2C

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.


pancreatic alpha-amylase isoform h1 (human)

A pancreatic alpha-amylase (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:P04746-1.


calcium phosphate

A calcium salt composed of calcium and phosphate/diphosphate ions; present in milk and used for the mineralisation of calcified tissues.


Seminal Vesicle Leiomyosarcoma

A rare leiomyosarcoma that affects the seminal vesicle.


Paratesticular Leiomyosarcoma

A leiomyosarcoma that arises from the paratesticular region.


mu-type opioid receptor isoform r7 (rat)

A mu-type opioid receptor (rat) 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:P33535-7.


Grade 2 Rash Pustular, CTCAE

Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)


Rash Pustular, CTCAE

A disorder characterized by a circumscribed and elevated skin lesion filled with pus.


Grade 3 Rash Pustular, CTCAE

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


Grade 5 Rectal Fistula, CTCAE

Death


cellular congenital mesoblastic nephroma

A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.


microcephaly 22, primary, autosomal recessive


chromosome Xp11.23-p11.22 duplication syndrome

A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.


chromosome X disorder

Chromosomal disorder in which chromosome X is affected.


paternal uniparental disomy of chromosome X


X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.


maternal uniparental disomy of chromosome X


X-linked diffuse leiomyomatosis-Alport syndrome

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.


partial duplication of the long arm of chromosome X

Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.


partial monosomy of the short arm of chromosome X


Xq27.3q28 duplication syndrome

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.


X-linked acrogigantism due to Xq26 microduplication


49,XXXYY syndrome

49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.


tetrasomy X

Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).


partial deletion of the long arm of chromosome X


Xq12-q13.3 duplication syndrome

Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.


Xp22.3 microdeletion syndrome

Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.


X small rings

X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.


atypical Norrie disease due to monosomy Xp11.3

Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.


distal Xq28 microduplication syndrome

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.


X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.


partial duplication of the short arm of chromosome X


Vaginal Germ Cell Tumor

A germ tumor that arises from the vagina.


Vaginal Dermoid Cyst

A rare benign cystic teratoma that arises from the vagina. It presents as a slow growing cyst in the vaginal wall that contains sebaceous material and hair. The cyst is lined by squamous epithelium. Skin adnexal structures and sometimes smooth and skeletal muscle are present.


Grade 3 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 2 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 5 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 4 Brain Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 2 Cecal Hemorrhage, CTCAE

Moderate symptoms; intervention indicated


voltage-dependent N-type calcium channel subunit alpha-1B isoform r1 (rat)

A voltage-dependent N-type calcium channel subunit alpha-1B (rat) 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:Q02294-1.


Grade 5 Uterus Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 2 Hypersomnia, CTCAE

Moderate increased need for sleep


Hypersomnia, CTCAE

A disorder characterized by characterized by excessive sleepiness during the daytime.


Grade 1 Hypersomnia, CTCAE

Mild increased need for sleep


Grade 3 Hypersomnia, CTCAE

Severe increased need for sleep


Grade 3 Eye Disorders - Other, Specify, CTCAE

Severe or medically significant but not immediately sight-threatening; limiting self care ADL; decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200)


Grade 5 Colitis, CTCAE

Death


equilibrative nucleoside transporter 1 isoform h2 (human)

An equilibrative nucleoside transporter 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:Q99808-2.


autosomal dominant cerebellar ataxia, deafness and narcolepsy

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


Grade 1 Laryngeal Mucositis, CTCAE

Endoscopic findings only; mild discomfort with normal intake


Grade 1 Intraoperative Gastrointestinal Injury, CTCAE

Primary repair of injured organ/structure indicated


ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h1 (human)

An ectonucleotide pyrophosphatase/phosphodiesterase family 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:Q13822-1.


ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h3 (human)

An ectonucleotide pyrophosphatase/phosphodiesterase family 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:Q13822-3.


Grade 4 Pericarditis, CTCAE

Life-threatening consequences; urgent intervention indicated


serine/threonine-protein kinase ULK3 isoform 1 (human)

A serine/threonine-protein kinase ULK3 isoform 1 that is encoded in the genome of human.


serine/threonine-protein kinase ULK3 isoform 1 (mouse)

A serine/threonine-protein kinase ULK3 isoform 1 that is encoded in the genome of mouse.


vitamin B2

Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms).


Grade 2 Vein Infection with Unknown Absolute Neutrophil Count, CTCAE


renin-1 isoform 1, mature form (mouse)

A renin-1 isoform 1, mature form in mouse. UniProtKB:P06281-1, 72-402.


PMS2 Loss of Nuclear Expression

An indication that expression of PMS2 was not detected in the nuclei of cells in a sample.


primary hyperoxaluria type 2

Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.


Disseminated varicella zoster vaccine virus infection

A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella-zoster virus, Oka.


hereditary hypotrichosis with recurrent skin vesicles

Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.


acquired lactic acidosis

An instance of lactic acidosis that is acquired during the lifetime of the individual.


Duodenal Adenoma

A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous.


Benign Periampullary Neoplasm

A non-metastasizing neoplasm arising from the periampullary region.


Atypical Type A Thymoma

A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis).


Pathologic Stage I Merkel Cell Carcinoma AJCC v8

Stage I includes: T1, N0, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)


isoprenoid

Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives.


carotene

Hydrocarbon carotenoids.


tetraterpenoid

Any terpenoid derived from a tetraterpene. The term includes compounds in which the C40 skeleton of the parent tetraterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


Retinyl octanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of octanoic acid with the hydroxy group of all-trans-retinol.


sesquiterpene lactone

Any member of a diverse class of complex, multicyclic phytochemicals showing a variety of skeleton arrangements and bioactivities, and having in common a sesquiterpenoid structure including a lactone ring.


triterpenoid

Any terpenoid derived from a triterpene. The term includes compounds in which the C30 skeleton of the parent triterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


cyclic monoterpene ketone

A cyclic terpene ketone in which the terpene specified is monoterpene.


tetracyclic diterpenoid

A diterpenoid with a tetracyclic skeleton.


monoterpene ketone

A terpene ketone derived from a monoterpene.


3,4-Didehydroretinoic acid

A retinoid obtained by 3,4-desaturation of beta-ionone ring of all-trans-retinoic acid


terpene

A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2].


sesquiterpenoid

Any terpenoid derived from a sesquiterpene. The term includes compounds in which the C15 skeleton of the parent sesquiterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


Retinyl dodecanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of dodecanoic (lauric) acid with the hydroxy group of all-trans-retinol.


A retinoid that consists of 3,7-dimethylnona-2,4,6,8-tetraenoic acid having a 4-methoxy-2,3,6-trimethylphenyl group attached at position 9.


picrotoxane sesquiterpenoid

A group of sesquiterpenoids whose structure is based on a hexahydroindane skeleton, as exemplified by picrotin.


monoterpenoid

Any terpenoid derived from a monoterpene. The term includes compounds in which the C10 skeleton of the parent monoterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


xanthophyll

A subclass of carotenoids consisting of the oxygenated carotenes.


Vitamin A2

A retinoid derived from 3,4-desaturation of the beta-ionone ring of all-trans-retinol.


A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraen-1-ol substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


retinoid

Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof.


tetraterpene

A C40 terpene.


vitamin A myristate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of tetradecanoic acid with the hydroxy group of all-trans-retinol.


carotenoid beta-end derivative

Any carotenoid derivative with an beta-end group


terpenoid

Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.


cyclic terpene ketone

An alicyclic ketone in which the carbocyclic ring structure forms part of a terpene skeleton.


(-)-Camphor

The S-enantiomer of camphor.


carotenoid

One of a class of tetraterpenoids (C40), formally derived from the acyclic parent, psi,psi-carotene by hydrogenation, dehydrogenation, cyclization, oxidation, or combination of these processes. This class includes carotenes, xanthophylls and certain compounds that arise from rearrangement of the skeleton of psi,psi-carotene or by loss of part of this structure. Retinoids are excluded.


terpene glycoside

A terpenoid in which one or more hydroxy functions are glycosylated.


retinyl ester

A carboxylic ester obtained by formal condensation of the hydroxy group of retinol with the carboxy group of any carboxylic acid.


A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


Retinyl heptanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of heptanoic acid with the hydroxy group of all-trans-retinol.


all-trans-retinyl ester

A retintinyl ester in which all double bonds of the retinyl side-chain have trans-configuration.


terpene ketone

Any terpenoid which contains a keto group.


Menthol

Any secondary alcohol that is one of the eight possible diastereoisomers of 5-methyl-2-(propan-2-yl)cyclohexan-1-ol.


diterpenoid

Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


triterpenoid saponin

A terpene glycoside in which the terpene moiety is a triterpenoid.


Camphor (synthetic)

The (R)- enantiomer of camphor.


LADD syndrome 1

Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.


cataract 44

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.


FERROHEME

A heme is any tetrapyrrolic chelate of iron.


protoheme IX

A metalloprotoporphyrin in which the four pyrrole nitrogens of the protoporphyrin moiety are coordinated to iron. It is the most abundant of the heme compounds.


Cellular neurothekeoma

A nerve sheath myxoma with increased cellularity.


Grade 1 Ear and Labyrinth Disorders - Other, Specify, CTCAE

Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated


cutaneous undifferentiated pleomorphic sarcoma

An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.


Anaplastic Sarcoma of the Kidney

A rare tumor, usually occurring in young adults (mean age 12 years) with slight female predominance. It is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. Most cases show chondroid differentiation.


2-Amino-5-fluorobenzoic acid

An aminobenzoic acid that is anthranilic acid in which the hydrogen at position 5 on the phenyl ring is replaced by fluorine.


autosomal recessive limb-girdle muscular dystrophy type 2Q

Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.


leukotriene A-4 hydrolase isoform h2 (human)

A leukotriene A-4 hydrolase (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:P09960-2.


leukotriene A-4 hydrolase isoform 1 (human)

A leukotriene A-4 hydrolase isoform 1 that is encoded in the genome of human.


leukotriene A-4 hydrolase isoform h3 (human)

A leukotriene A-4 hydrolase (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:P09960-3.


leukotriene A-4 hydrolase, initiator methionine removed form (human)

A leukotriene A-4 hydrolase (human) that has had the initiator methionine removed. UniProtKB:P09960, 2-611.


leukotriene A-4 hydrolase isoform h4 (human)

A leukotriene A-4 hydrolase (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:P09960-4.


Barrett Esophagus-Indefinite for Dysplasia

A finding indicating the presence of Barrett esophagus in which technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts.


Gastrointestinal dysplasia

A finding indicating the presence of morphologic features of neoplasia in the epithelium of any part of the digestive system without evidence of invasion.  These features include architectural and cytological epithelial alterations.


High Grade Dysplasia in Ulcerative Colitis

A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Moderate dysplasia of colon

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


Barrett Esophagus-Negative for Dysplasia

A finding indicating the presence of Barrett esophagus with regenerative changes only.


Barretts esophagus with high grade dysplasia

A finding indicating the presence of Barrett esophagus in which there is marked nuclear pleomorphism and loss of polarity, increased number of atypical mitotic figures, and crypt budding, branching, and crowding.


Crohn Disease-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of dysplastic epithelial changes in an intestinal tissue sample that is affected by Crohn disease.


Negative for Gastric Dysplasia

A morphologic finding indicating the absence of dysplastic changes in the gastric mucosal epithelium.  It includes non-neoplastic inflammatory, reactive, or metaplastic pathologic processes.


Low Grade Dysplasia in Inflammatory Bowel Disease

A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Ulcerative Colitis-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis.


Mild dysplasia of colon

A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


Barretts esophagus with dysplasia

Epithelial dysplasia that develops in Barrett esophagus. It is classified as low or high grade. When technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts, then the diagnosis of Barrett esophagus-indefinite for dysplasia is made.


Low Grade Dysplasia in Ulcerative Colitis

A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Gastric dysplasia

A intraepithelial neoplasia (dysplasia) that arises in either the native gastric mucosa or in metaplastic gastric epithelium.  It has a flat, polypoid or slightly depressed growth pattern.  It is graded as low grade (mild dysplasia) or high grade (moderate dysplasia and carcinoma in situ).  (WHO, 2000)


Inflammatory Bowel Disease-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Barretts esophagus with low grade dysplasia

A finding indicating the presence of Barrett esophagus in which the crypts are preserved or mildly distorted.  There is nuclear elongation, mild pleomorphism and loss of polarity, mucin depletion, and increased number of mitotic figures.