peroxisome biogenesis disorder due to PEX6 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


developmental and epileptic encephalopathy, 72

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


focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.


pyruvate dehydrogenase deficiency

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


developmental and epileptic encephalopathy, 76

An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


disorder of peroxisomal alpha oxidation

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


generalized epilepsy with febrile seizures plus, type 1


rhizomelic chondrodysplasia punctata type 3

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.


peroxisome biogenesis disorder 4B

An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


developmental and epileptic encephalopathy 102


developmental and epileptic encephalopathy 101


disorder of peroxisomal transporter

Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


developmental and epileptic encephalopathy, 46

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


peroxisome biogenesis disorder due to PEX16 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.


generalized epilepsy with febrile seizures plus, type 8


A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.


peroxisome biogenesis disorder due to PEX12 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


developmental and epileptic encephalopathy, 56


Mowat-Wilson syndrome due to a ZEB2 point mutation


adolescent/adult onset autosomal dominant epilepsy with auditory features

A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


developmental and epileptic encephalopathy, 30

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.


generalized epilepsy with febrile seizures plus, type 6


familial encephalopathy with neuroserpin inclusion bodies


peroxisome biogenesis disorder 10A (Zellweger)


developmental and epileptic encephalopathy 109


juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


developmental and epileptic encephalopathy, 19

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.


autosomal recessive spinocerebellar ataxia 15

Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.


Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.


developmental and epileptic encephalopathy 6B


phytanoyl-CoA hydroxylase deficiency

Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


disorder of defective peroxisomal and mitochondrial fission

A disease that has its basis in the disruption of peroxisome and mitochondrial fission.


mitochondrial DNA depletion syndrome 4a

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


severe neonatal-onset encephalopathy with microcephaly

An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.


X-linked intellectual disability-epilepsy syndrome


pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.


developmental and epileptic encephalopathy 31B


biotinidase deficiency

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


cerebral creatine deficiency syndrome

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


developmental and epileptic encephalopathy, 36

An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13.


pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


developmental and epileptic encephalopathy, 53


autosomal dominant nocturnal frontal lobe epilepsy 4

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


developmental and epileptic encephalopathy, 11

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


developmental and epileptic encephalopathy, 74


myoclonic-atonic epilepsy

An autosomal dominant condition caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1. It is characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures.


congenital bile acid synthesis defect 4

An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


generalized epilepsy with febrile seizures plus, type 9

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


familial temporal lobe epilepsy 2

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


developmental and epileptic encephalopathy, 63


photosensitive epilepsy

An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.


peroxisome biogenesis disorder 6B

An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


congenital bile acid synthesis defect 5

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


folinic acid-responsive seizures

Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.


seizures, benign familial neonatal, 1

Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.


temporal lobe epilepsy

A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)


developmental and epileptic encephalopathy, 50


epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


developmental and epileptic encephalopathy, 37

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


developmental and epileptic encephalopathy, 68


epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features


familial mesial temporal lobe epilepsy with febrile seizures


developmental and epileptic encephalopathy, 88


developmental and epileptic encephalopathy 89


epilepsy, early-onset, vitamin B6-dependent


generalized epilepsy with febrile seizures plus, type 7

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


childhood absence epilepsy

Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.


developmental and epileptic encephalopathy 106


developmental and epileptic encephalopathy, 18


pyridoxal phosphate-responsive seizures

Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


developmental and epileptic encephalopathy, 75


developmental and epileptic encephalopathy, 69


pyruvate dehydrogenase phosphatase deficiency

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.


peroxisome biogenesis disorder 5A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder due to PEX14 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.


infantile convulsions and choreoathetosis

Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.


GLUT1 deficiency syndrome

An epileptic encephalopathy resulting from impaired glucose transport into the brain.


developmental and epileptic encephalopathy, 34

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.


developmental and epileptic encephalopathy 96


X-linked dominant intellectual disability-epilepsy syndrome


seizures, benign familial infantile, 5

Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.


action myoclonus-renal failure syndrome

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.


peroxisome biogenesis disorder 8B

An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


peroxisome biogenesis disorder 11A (Zellweger)


pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


progressive myoclonic epilepsy type 8

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


Mowat-Wilson syndrome due to monosomy 2q22


pyruvate dehydrogenase E3 deficiency

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


developmental and epileptic encephalopathy, 21

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.


developmental and epileptic encephalopathy, 14

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.


epilepsy, familial focal, with variable foci 3

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


benign familial neonatal-infantile seizures 1


developmental and epileptic encephalopathy, 62


alanine glyoxylate aminotransferase deficiency

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


d-bifunctional protein deficiency

A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.


non-neonatal early infantile epileptic encephalopathy

Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.


developmental and epileptic encephalopathy, 78


neonatal-onset encephalopathy with rigidity and seizures


developmental and epileptic encephalopathy 99


acyl-CoA binding domain containing protein 5 deficiency

A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.


autosomal dominant nocturnal frontal lobe epilepsy 5

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


childhood epilepsy with centrotemporal spikes

A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.


benign idiopathic neonatal seizures

A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.


fatty acyl-CoA reductase defects

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.


autosomal recessive spinocerebellar ataxia 12

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.


peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.


Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.


epilepsy, familial focal, with variable foci 1

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.


developmental and epileptic encephalopathy, 61


developmental and epileptic encephalopathy, 35


epileptic encephalopathy, infantile or early childhood, 2


Lennox-Gastaut syndrome

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.


developmental and epileptic encephalopathy 107


developmental and epileptic encephalopathy, 44

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.


familial focal epilepsy with variable foci

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


oxoglutaricaciduria

Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.


developmental and epileptic encephalopathy, 13

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.


developmental and epileptic encephalopathy, 48

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.


developmental and epileptic encephalopathy, 54


seizures, benign familial neonatal, 2

Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.


developmental and epileptic encephalopathy, 16


hot water reflex epilepsy

Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


developmental and epileptic encephalopathy, 71


peroxisome biogenesis disorder 7B

An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


FOXG1 disorder

A monogenic disease that has material basis in mutation in the FOXG1 gene.


developmental and epileptic encephalopathy 104


A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.


progressive myoclonic epilepsy with neuroserpin inclusion bodies


cerebral folate deficiency

Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.


Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.


generalized epilepsy-paroxysmal dyskinesia syndrome

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.


global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome


peroxisome biogenesis disorder, complementation group 2


developmental and epileptic encephalopathy, 40

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


benign familial mesial temporal lobe epilepsy

Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.


FOXG1 syndrome due to intragenic alteration


spinocerebellar ataxia, autosomal recessive 23


acatalasia

A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.


progressive myoclonic epilepsy type 7

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.


epilepsy, familial temporal lobe, 1

An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.


peroxisome biogenesis disorder due to PEX11B defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).


isolated adrenal insufficiency

An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.


developmental and epileptic encephalopathy, 15


developmental and epileptic encephalopathy, 32

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.


developmental and epileptic encephalopathy, 1

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.


developmental and epileptic encephalopathy, 77


peroxisome biogenesis disorder 13A (Zellweger)


arthrogryposis epileptic seizures migrational brain disorder


developmental and epileptic encephalopathy, 23


epilepsy, familial focal, with variable foci 2

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


rhizomelic chondrodysplasia punctata type 2

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.


autosomal dominant nocturnal frontal lobe epilepsy 1

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.


polyhydramnios, megalencephaly, and symptomatic epilepsy


developmental and epileptic encephalopathy, 73


developmental and epileptic encephalopathy, 60


bile acid CoA:amino acid N-acyltransferase deficiency

Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.


developmental and epileptic encephalopathy 94

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.


developmental and epileptic encephalopathy, 27

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.


epilepsy, familial adult myoclonic, 5

Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.


developmental and epileptic encephalopathy, 83


developmental and epileptic encephalopathy, 84


childhood onset GLUT1 deficiency syndrome 2

A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.


peroxisome biogenesis disorder 6A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome.


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


developmental and epileptic encephalopathy 97


peroxisome biogenesis disorder 8A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.


peroxisome biogenesis disorder 4A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.


non-Zellweger spectrum disorder

A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.


encephalopathy due to defective mitochondrial and peroxisomal fission 2


developmental and epileptic encephalopathy, 8


seizures, benign familial neonatal, autosomal recessive


microcephaly, seizures, and developmental delay


developmental and epileptic encephalopathy, 49

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.


developmental and epileptic encephalopathy, 5

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.


developmental and epileptic encephalopathy, 9

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.


peroxisome biogenesis disorder due to PEX7 defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.


NARP syndrome

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


developmental and epileptic encephalopathy, 41

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.


developmental and epileptic encephalopathy, 33

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.


peroxisome biogenesis disorder 5B

An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


developmental and epileptic encephalopathy, 57


peroxisome biogenesis disorder 2B

An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


primary hyperoxaluria type 1

A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.


epilepsy, progressive myoclonic, 1B

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.


developmental and epileptic encephalopathy 100


developmental and epileptic encephalopathy, 67


developmental and epileptic encephalopathy, 52


developmental and epileptic encephalopathy, 70


adrenoleukodystrophy

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


developmental and epileptic encephalopathy, 17

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


developmental and epileptic encephalopathy, 39

A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.


autosomal dominant nocturnal frontal lobe epilepsy 3

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.


syndromic X-linked intellectual disability Hedera type

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.


multiple congenital anomalies-hypotonia-seizures syndrome 2

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.


peroxisome biogenesis disorder due to PEX1 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.


epileptic encephalopathy, infantile or early childhood, 1


developmental and epileptic encephalopathy, 43

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


developmental and epileptic encephalopathy, 45

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.


mesial temporal lobe epilepsy with hippocampal sclerosis

Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.


autosomal dominant nocturnal frontal lobe epilepsy 2

An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.


peroxisomal disease

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.


peroxisome biogenesis disorder 12A (Zellweger)


familial temporal lobe epilepsy 6

A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.


familial temporal lobe epilepsy 7

A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.


developmental and epileptic encephalopathy, 24

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.


epilepsy, familial adult myoclonic, 2

Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.


progressive myoclonic epilepsy type 6

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.


generalized epilepsy with febrile seizures plus, type 2

Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.


developmental and epileptic encephalopathy, 25

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.


Dravet syndrome

Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.


benign neonatal seizures

A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.


developmental and epileptic encephalopathy, 79


developmental and epileptic encephalopathy, 28

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.


developmental and epileptic encephalopathy, 85, with or without midline brain defects


developmental and epileptic encephalopathy, 29

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.


autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome


holocarboxylase synthetase deficiency

A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.


developmental and epileptic encephalopathy 103


generalized epilepsy with febrile seizures plus, type 10


peroxisome biogenesis disorder due to PEX2 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.


peroxisome biogenesis disorder due to PEX19 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.


MERRF syndrome

A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.


developmental and epileptic encephalopathy, 47

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


familial temporal lobe epilepsy 8

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.


familial temporal lobe epilepsy 5

A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.


rhizomelic chondrodysplasia punctata type 1

A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.


generalized epilepsy with febrile seizures plus, type 4


developmental and epileptic encephalopathy, 4

Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.


developmental and epileptic encephalopathy 98


developmental and epileptic encephalopathy, 59


disorder of defective peroxisome oxidative status

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.


peroxisome biogenesis disorder, complementation group K


peroxisome biogenesis disorder 2A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome.


developmental and epileptic encephalopathy, 90


Unverricht-Lundborg syndrome

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.


epileptic encephalopathy, infantile or early childhood, 3


familial partial epilepsy

An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.


peroxisome biogenesis disorder due to PEX5 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.


developmental and epileptic encephalopathy, 65


rhizomelic chondrodysplasia punctata type 5

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.


fatty acyl-CoA reductase 1 dysregulation

A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.


intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).


peroxisome biogenesis disorder type 3B

A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.


Lung Large Cell Carcinoma by AJCC v7 Stage

A term that refers to the staging of large cell lung carcinoma, following the rules of the TNM AJCC v7 classification system.


Stage IIA Lung Large Cell Carcinoma AJCC v7

Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage III

Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIIA Lung Large Cell Carcinoma AJCC v7

Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage II

Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Stage IA Lung Large Cell Carcinoma AJCC v7

Stage IA includes: (T1a, N0, M0); (T1b, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IB Lung Large Cell Carcinoma AJCC v7

Stage IB includes: T2a, N0, M0.  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage I

Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIB Lung Large Cell Carcinoma AJCC v7

Stage IIB includes: (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Stage 0 Lung Large Cell Carcinoma AJCC v6 and v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Large cell lung cancer stage IV

Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)


Stage IIIB Lung Large Cell Carcinoma AJCC v7

Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


TOM complex

biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A large mitochondrial outer membrane translocase complex that mediates transport of proteins into mitochondrial compartments. TOM transports beta-barrel precursors across the outer membrane and the sorting and assembly machinery (SAM complex) inserts them into the target membrane.


positive regulation of glycine import across plasma membrane

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Any process that activates or increases the frequency, rate or extent of glycine import.


positive regulation of acetylcholine uptake

Any process that activates or increases the frequency, rate or extent of the directed movement of acetylcholine into a cell.


positive regulation of proline import across plasma membrane

Any process that activates or increases the frequency, rate or extent of proline import into cell.


positive regulation of glutamate uptake involved in transmission of nerve impulse

Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of L-glutamate into a neuron or glial cell.


positive regulation of L-glutamate import across plasma membrane

Any process that activates or increases the frequency, rate or extent of L-glutamate import into a cell.


positive regulation of acetylcholine secretion, neurotransmission

Any process that activates or increases the frequency, rate or extent of the regulated release of acetylcholine.


positive regulation of amino acid uptake involved in synaptic transmission

Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acid neurotransmitters into a neuron or glial cell.


positive regulation of aspartate secretion

Any process that activates or increases the frequency, rate or extent of aspartate secretion.


positive regulation of glutamine transport

Any process that activates or increases the frequency, rate or extent of glutamine transport.


positive regulation of glycine secretion, neurotransmission

Any process that activates or increases the frequency, rate or extent of glycine secretion, neurotransmission.


positive regulation of glutamate secretion, neurotransmission

Any process that activates or increases the frequency, rate or extent of glutamate secretion, where glutamate acts as a neurotransmitter.


positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization

Any process that activates or increases the frequency, rate or extent of glutamate secretion in response to membrane depolarization, where glutamate acts as a neurotransmitter.


Stage IV AIDS-Related Anal Canal Cancer AJCC v6 and v7

Stage IV includes: (Any T, Any N, M1).  M1: Distant metastasis. (AJCC 6th and 7th Eds.)


AIDS-Related Anal Canal Carcinoma

A carcinoma arising from the anal canal and occurring in HIV-positive patients.


Stage III AIDS-Related Anal Canal Cancer AJCC v6 and v7

Stage III includes: IIIA (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0); IIIB (T4, N1, M0); (Any T, N2, M0); (Any T, N3, M0).  T1: Tumor 2 cm or less in greatest dimension.  T2: tumor more than 2 cm but not more than 5 cm in greatest dimension.  T3: Tumor more than 5 cm in greatest dimension.  T4: Tumor of any size that invades adjacent organ(s).  N1: Metastasis in perirectal lymph node(s).  N0: No regional lymph node metastasis.  N2: Metastasis in unilateral internal iliac and/or inguinal lymph node(s).  N3: Metastasis in perirectal and inguinal lymph nodes and/or bilateral internal iliac and/or inguinal lymph nodes. M0: No distant metastasis. (AJCC 6th and 7th Eds.)


AIDS-related anal cancer recurrent

The reemergence of anal canal carcinoma in HIV-positive patients after a period of remission.


Stage 0 AIDS-Related Anal Canal Cancer AJCC v6 and v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


Stage II AIDS-Related Anal Canal Cancer AJCC v6 and v7

Stage II includes: (T2, N0, M0); (T3,N0, M0).  T2: Tumor more than 2 cm but not more than 5 cm in greatest dimension.  T3: Tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


Stage I AIDS-Related Anal Canal Cancer AJCC v6 and v7

Stage I includes: T1, N0, M0.  T1: Tumor 2 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


nasopalpebral lipoma-coloboma syndrome

Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.


glucomannan binding

biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Binding to glucomannan.


heteropolysaccharide binding

Binding to a heteropolysaccharide, a glycan composed of more than one type of monosaccharide residue.


galactomannan binding

Binding to galactomannan.


The chemical reactions and pathways resulting in the formation of ent-pimara-8(14),15-diene.


The chemical reactions and pathways involving ent-pimara-8(14),15-diene.


The chemical reactions and pathways resulting in the breakdown of ent-pimara-8(14),15-diene.


Refractory Small Intestinal Carcinoma

Small intestinal carcinoma that is resistant to treatment.


degenerative myopia

Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.


fibrochondrogenesis 2

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.


cellular response to silicon dioxide

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a silicon dioxide stimulus.


Advanced Kidney Carcinoma

Kidney carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Renal Pelvis Urothelial Carcinoma

Renal pelvis urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Kidney Medullary Carcinoma

Kidney medullary carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Renal Pelvis Carcinoma

Renal pelvis carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


dehydrated hereditary stomatocytosis 2

Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.


regulation of establishment of bipolar cell polarity regulating cell shape

Any process that modulates the rate, frequency or extent of the establishment of bipolar cell polarity that contributes to the shape of a cell.


positive regulation of establishment of bipolar cell polarity regulating cell shape

Any process that increases the rate, frequency or extent of the establishment of bipolar cell polarity that regulates the shape of a cell.


olfactory placode maturation

A developmental process, independent of morphogenetic (shape) change, that is required for the olfactory placode to attain its fully functional state. The olfactory placode is a thickening of the neural ectoderm in the head region of the vertebrate embryo which develops into the olfactory region of the nasal cavity.


sesamoid bone of pes

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A sesamoid bone that is part of a pes.


pisiform

A laterally positioned sesamoid bone found in close proximity with and occasionally fused to the ulnare.


patella

A large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons.[PHENOSCAPE:ad].


equine distal sesamoid

Lies on the palmar aspect of the coffin joint between the second phalanx and third phalanx. articulates closely with the distal phalanx, to which it is connected by the impar ligament of the navicular bone. The impar ligament is very strong and permits relatively little motion between the navicular bone and the distal phalanx.


radial sesamoid

In the giant panda, a large digitlike preaxial element that articulates with the scapholunatum and the medial border of the first metacarpal.


sesamoid bone of the peroneus longus muscle


intertarsale sesamoid

Sesamoid bone in the tarsal region.


subarticular sesamoid

Is an endochondral structure located on the ventral to the junction between, in the hand, the metacarpal and most proximal phalanx of the digit and between phalanges, and in the foot between the metatarsal and most proximal phalanx of the digit and between phalanges. Typically subarticular sesamoids are found with the subarticular tubercles.


sesamoid bone of manus

A sesamoid bone that is part of a manus.


sesamoid bone of gastrocnemius

A small sesamoid bone situated behind a condyle of the femur.


Abdominal Migraine

Paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor.


leukoencephalopathy with mild cerebellar ataxia and white matter edema

An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI.


negative regulation of platelet formation

Any process that stops, prevents or reduces the frequency, rate or extent of platelet formation.


carboxylesterase activity

Catalysis of the reaction: a carboxylic ester + H2O = a carboxylate + an alcohol + H(+).


Lewy neurite

Elongated neuronal process, often with side branches and more than one branching point, described in brains of patients with Parkinson's disease. Lewy neurites stain positively for ubiquitin in brainstem and forebrain regions affected in Parkinson's disease.


Retinal

A retinal in which all four exocyclic double bonds have E- (trans-) geometry.


positive regulation of exodeoxyribonuclease activity

Any process that activates or increases the frequency, rate or extent of exodeoxyribonuclease activity.


starch catabolic process

The chemical reactions and pathways resulting in the breakdown of starch, the most important reserve polysaccharide in plants.


cellular bud neck septin collar

A tubular structure with flared ends, shaped like an hourglass and composed of highly ordered arrays of septin filaments, that forms at the bud neck of a dividing cell. In S. cerevisiae, this structure is located at the bud neck throughout most of the cell cycle and the septins are fixed within the structure, not exchanging with soluble septins. This septin structure acts as a scaffold for other proteins that function at the bud neck.


tyrosinemia type II

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


tyrosinemia

An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.


tyrosinemia type I

Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.


tyrosinemia type III

Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.


transient tyrosinemia of the newborn

A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.


Stage IIA Adult Soft Tissue Sarcoma AJCC v7


Stage IIA Soft Tissue Sarcoma AJCC v7

Stage IIA includes: (T1a, N0, M0, G2, G3); (T1b, N0, M0, G2, G3).  T1a: Superficial tumor 5 cm or less in greatest dimension.  T1b: Deep tumor 5 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G2: Grade 2.  G3: Grade 3. (AJCC 7th ed.)


amastigogenesis

The morphological, biochemical and genetic changes that induce the differentiation of metacyclic parasites into amastigotes in some of the Trypanosomatidae species such as Leishmania parasites and Trypanosoma cruzi. This process occurs inside the cells of the mammalian hosts, particularly in macrophages and other phagocytic cells for Leishmania parasites.


respiratory tract epithelium

The pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.


epithelium of right lung

An epithelium that is part of a right lung [Automatically generated definition].


terminal bronchus epithelium

An epithelium that is part of a terminal bronchus [Automatically generated definition].


nasal fin

The nasal fin is an epithelial seam that develops by fusion between the epithelial linings of the medial and lateral nasal swellings. Shortly after its formation the nasal fin regresses and is replaced by mesenchyme, with exception of its most posterior portion which remains as the bucconasal membrane.


pseudostratified smooth columnar epithelium


epithelium of main bronchus

An epithelium that is part of a main bronchus [Automatically generated definition].


lung endothelium

A blood vessel endothelium that is part of a lung [Automatically generated definition].


endothelium of trachea

An endothelium that is part of a trachea.


larynx epithelium

An epithelium that is part of a larynx [Automatically generated definition].


right lung accessory lobe epithelium

An epithelium that is part of a right lung accessory lobe.


alveolar secondary septum

A secondary alveolar septum is a specialized epithelium that subdivides the initial saccule[GO].


right lung endothelium

An endothelium that is part of a right lung.


left lung endothelium

An endothelium that is part of a left lung.


terminal bronchiole epithelium

An epithelium that lines a terminal bronchiole.


epithelium of lobar bronchus

The tissue made up of epithelial cells that lines the inside of the lobar bronchus.


pulmonary alveolus epithelium

The epithelial layer of the alveoli[MP]. The layer of cells covering the lining of the tiny air sacs at the end of the bronchioles[BTO].


left lung lobar bronchus epithelium

An epithelium that is part of a lobar bronchus of left lung.


right lung accessory lobe endothelium

An endothelium that is part of a right lung accessory lobe.


right lung lobar bronchus epitheium

An epithelium that is part of a lobar bronchus of right lung.


epithelium of left lung

An epithelium that is part of a left lung [Automatically generated definition].


lung epithelium

The epithelial layer of the lung.


upper respiratory tract epithelium

An epithelium that is part of a upper respiratory tract [Automatically generated definition].


right lung caudal lobe epithelium

An epithelium that is part of a lower lobe of right lung.


lower respiratory tract epithelium

An epithelium that is part of a lower respiratory tract [Automatically generated definition].


epithelium of segmental bronchus

An epithelium that is part of a segmental bronchus [Automatically generated definition].


right lung cranial lobe endothelium

An endothelium that is part of a upper lobe of right lung.


right lung caudal lobe endothelium

An endothelium that is part of a lower lobe of right lung.


olfactory epithelium

A sensory epithelium inside the nasal cavity that is responsible for detecting odors[WP].


endothelium of main bronchus

An endothelium that is part of a main bronchus [Automatically generated definition].


epithelium of lobular bronchiole

An epithelium of the lobular bronchiole.


epithelium of bronchiole

An epithelium that is part of a bronchiole [Automatically generated definition].


epithelium of nasopharynx

An epithelium that is part of a nasopharynx [Automatically generated definition].


right lung cranial lobe epithelium

An epithelium that is part of a upper lobe of right lung.


alveolar primary septum

A primary alveolar septum is a specialized epithelium that surrounds the saccule as it forms[GO].


alveolar sac

The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters.


nasal cavity epithelium

An epithelium that lines the nasal cavity.


epithelium of respiratory bronchiole

An epithelium that is part of a respiratory bronchiole [Automatically generated definition].


tracheobronchial epithelium

Epithelium pertaining to the trachea and bronchi.


Charcot-Marie-Tooth disease type 2A1

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


Lung Synovial Sarcoma

A synovial sarcoma arising from the lungs.


Sarcoma NCI Grade 3

A sarcoma with more than 15% necrosis.


monophasic synovial sarcoma

A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.


biphasic synovial sarcoma

A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.


Anaplastic Embryonal Rhabdomyosarcoma

A morphologic variant of embryonal rhabdomyosarcoma.  It is characterized by the presence of large hyperchromatic and anaplastic cells.


vulvar alveolar soft part sarcoma

An alveolar soft part sarcoma arising from the vulva.


botryoid-type embryonal rhabdomyosarcoma of the vagina

A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.


rhabdomyosarcoma of lung

A rare rhabdomyosarcoma that arises from the lung.


childhood botryoid rhabdomyosarcoma

A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.


Paratesticular Rhabdomyosarcoma

A rhabdomyosarcoma that arises from the paratesticular region.


alveolar rhabdomyosarcoma of prostate

A rare alveolar rhabdomyosarcoma arising from the prostate gland.


Metastatic embryonal rhabdomyosarcoma

Embryonal rhabdomyosarcoma that has spread from its original site of growth to another anatomic site.


orbit embryonal rhabdomyosarcoma

A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.


Orbital Alveolar Soft Part Sarcoma

An alveolar soft part sarcoma involving the orbit. It usually occurs in children.


central nervous system rhabdomyosarcoma

A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.


Tongue Alveolar Soft Part Sarcoma'

An alveolar soft part sarcoma involving the tongue. It usually occurs in children.


Middle Ear Embryonal Rhabdomyosarcoma

A rare embryonal rhabdomyosarcoma that arises in the middle ear.


Gastric Synovial Sarcoma

A rare synovial sarcoma that arises from the stomach.


adult botryoid rhabdomyosarcoma

A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.


adult vagina botryoid embryonal rhabdomyosarcoma

A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.


orbit rhabdomyosarcoma

A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.


Poorly Differentiated Fibrosarcoma

A usually aggressive malignant neoplasm arising from the deep soft tissue.  It is characterized by the presence of poorly-differentiated spindle-shaped fibroblasts, collagenous stroma formation and increased mitotic activity.


Kidney Synovial Sarcoma

A synovial sarcoma arising from the kidney.


Locally Advanced Alveolar Soft Part Sarcoma

Alveolar soft part sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Refractory Alveolar Soft Part Sarcoma

Alveolar soft part sarcoma that is resistant to treatment.


Childhood Rhabdomyosarcoma

An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in children.  Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomic sites.


Pleural Monophasic Synovial Sarcoma

A monophasic synovial sarcoma arising in the pleural cavity.


Lung Biphasic Synovial Sarcoma

A biphasic synovial sarcoma arising from the lungs.


Esophageal Rhabdomyosarcoma

A rhabdomyosarcoma arising from the esophageal wall.


Unresectable Alveolar Soft Part Sarcoma

Alveolar soft part sarcoma that is not amenable to surgical resection.


mediastinum synovial sarcoma

A synovial sarcoma arising from the mediastinum.


Childhood Rhabdomyosarcoma with Mixed Embryonal and Alveolar Features

A mixed rhabdomyosarcoma that occurs in children. The neoplasm is composed of embryonic and alveolar components.  It is characterized by the presence of spindle cells with myoblastic differentiation and a myxoid and a fibrous stroma.


testis rhabdomyosarcoma

A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.


childhood vagina botryoid rhabdomyosarcoma

A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.


breast rhabdomyosarcoma

A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.


Unresectable Pleomorphic Liposarcoma

Pleomorphic liposarcoma that is not amenable to surgical resection.


Rhabdomyosarcoma of bladder

A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the bladder.


Fusion-Negative Rhabdomyosarcoma

A rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion.


An alveolar rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion.  Approximately 80% of alveolar rhabdomyosarcomas are fusion-positive.


childhood pleomorphic rhabdomyosarcoma

A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.


adult pleomorphic rhabdomyosarcoma

An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.


Alveolar soft part sarcoma metastatic

An alveolar soft part sarcoma which has spread to another anatomic site.


Synovial sarcoma recurrent

The reemergence of synovial sarcoma after a period of remission


Recurrent Alveolar Rhabdomyosarcoma

The reemergence of alveolar rhabdomyosarcoma after a period of remission.


Pelvic Rhabdomyosarcoma

Rhabdomyosarcoma involving the organs and structures in the pelvis.


An uncommon variant of rhabdomyosarcoma with spindle cell or sclerosing morphology.  It affects both children and adults and it is more common in males.


Lung Alveolar Soft Part Sarcoma

An exceptionally rare alveolar soft part sarcoma that arises from the lung.


ectomesenchymoma

An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.


Refractory Childhood Rhabdomyosarcoma

Childhood rhabdomyosarcoma that is resistant to treatment.


vaginal rhabdomyosarcoma

A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.


Synovial sarcoma metastatic

A synovial sarcoma that has metastasized to other anatomic sites.


Liver Synovial Sarcoma

A synovial sarcoma that affects the liver.


alveolar rhabdomyosarcoma of bladder

An alveolar rhabdomyosarcoma arising from the bladder. It is the most common type of rhabdomyosarcoma of the bladder affecting older children and adolescents.


Sinonasal Rhabdomyosarcoma

A rhabdomyosarcoma that arises from the nasal cavity and paranasal sinuses.


Advanced Pleomorphic Liposarcoma

Pleomorphic liposarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


pleomorphic liposarcoma

Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.


Esophageal Synovial Sarcoma

A synovial sarcoma that affects the esophageal wall.


Childhood Synovial Sarcoma

A synovial sarcoma occurring in childhood.


mediastinum rhabdomyosarcoma

A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.


Adult Synovial Sarcoma

A synovial sarcoma occurring in adults.


Cardiac Synovial Sarcoma

A synovial sarcoma arising from the heart.


Sinonasal Synovial Sarcoma

A synovial sarcoma that arises from the nasal cavity and paranasal sinuses.


Fusion-Positive Rhabdomyosarcoma

A rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion.


Advanced Alveolar Soft Part Sarcoma

Alveolar soft part sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Metastatic Pleomorphic Liposarcoma

Pleomorphic liposarcoma that has spread from its original site of growth to another anatomic site.


Recurrent Childhood Rhabdomyosarcoma

The reemergence of childhood rhabdomyosarcoma after a period of remission.


Pleural Biphasic Synovial Sarcoma

A biphasic synovial sarcoma arising in the pleural cavity.


ovary rhabdomyosarcoma

A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.


pleomorphic rhabdomyosarcoma

An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.


vulvar childhood botryoid-type embryonal rhabdomyosarcoma

A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.


Alveolar soft part sarcoma non-metastatic

Alveolar soft part sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.


Adult Rhabdomyosarcoma

An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in adults.


pleomorphic liposarcoma of skin

A rare pleomorphic liposarcoma arising from the skin.


An alveolar rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion.


botryoid rhabdomyosarcoma

A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.


Kaposi Sarcoma NCI Grade 3

A Kaposi sarcoma with more than 15% necrosis.


Conjunctival Rhabdomyosarcoma

A rhabdomyosarcoma that arises from the conjunctiva.


Advanced Synovial Sarcoma

A synovial sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Synovial sarcoma non-metastatic

Synovial sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.


Metastatic Rhabdomyosarcoma

Rhabdomyosarcoma that has spread from its original site of growth to another anatomic site.


MYOD1-Mutant Spindle Cell/Sclerosing Rhabdomyosarcoma

Spindle cell/sclerosing rhabdomyosarcoma characterized by the presence of MYOD1 p.Leu122Arg substitution mutation. This subtype includes most spindle cell/sclerosing rhabdomyosarcomas in adolescents and young adults, as well as some cases in older adults. It follows an aggressive clinical course.


Unresectable Rhabdomyosarcoma

Rhabdomyosarcoma which is not amenable to surgical resection.


rhabdomyosarcoma of kidney

An extremely rare rhabdomyosarcoma arising from the kidney. Most cases are of embryonal type.


rhabdomyosarcoma of the cervix uteri

A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.


prostate embryonal rhabdomyosarcoma

A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.


Alveolar soft part sarcoma recurrent

The reemergence of alveolar soft part sarcoma after a period of remission.


Refractory Synovial Sarcoma

Synovial sarcoma that does not respond to treatment.


Pleural Synovial Sarcoma

A synovial sarcoma arising in the pleural cavity.


Epithelioid Sarcoma NCI Grade 3

An epithelioid sarcoma with more than 15% necrosis.


Prostate Synovial Sarcoma

A rare synovial sarcoma that arises from the prostate gland.


embryonal rhabdomyosarcoma of bladder

An embryonal rhabdomyosarcoma arising from the bladder. It is the most common type of rhabdomyosarcoma of the bladder affecting young children.


Locally Advanced Synovial Sarcoma

Synovial sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Angiosarcoma NCI Grade 3

An angiosarcoma with more than 15% necrosis.


Cardiac Biphasic Synovial Sarcoma

A biphasic synovial sarcoma arising from the heart.


epithelioid cell synovial sarcoma

A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.


Abdominal Rhabdomyosarcoma

Rhabdomyosarcoma involving the organs and structures in the abdomen.


Penile Rhabdomyosarcoma

A rhabdomyosarcoma that occurs in the penis. It usually affects young children. Embryonal rhabdomyosarcoma is the most common type.


Locally Advanced Rhabdomyosarcoma

Rhabdomyosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.


uterine corpus rhabdomyosarcoma

A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.


Vulvar Alveolar Rhabdomyosarcoma

An extremely rare malignant mesenchymal neoplasm of the vulva exhibiting skeletal muscle differentiation with an alveolar pattern.


Bladder Alveolar Soft Part Sarcoma

An alveolar soft part sarcoma involving the bladder.


Refractory Alveolar Rhabdomyosarcoma

Alveolar rhabdomyosarcoma that does not respond to treatment.


Childhood Embryonal Rhabdomyosarcoma

A poorly circumscribed morphologic variant of rhabdomyosarcoma occurring in children.  The neoplasm is characterized by the presence of primitive skeletal muscle in any stage of myogenesis.


Conventional Alveolar Rhabdomyosarcoma

An alveolar rhabdomyosarcoma characterized by the presence of large striated muscle cells with clear cytoplasm, giant cells with myoblastic differentiation, and fibrovascular septa.


Cardiac Monophasic Synovial Sarcoma

A monophasic synovial sarcoma arising from the heart.


rhabdomyosarcoma with mixed embryonal and alveolar features

A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.


Localized Childhood Rhabdomyosarcoma

Rhabdomyosarcoma that occurs during childhood and is confined to a specific site without evidence of spread to other anatomic sites.


Lung Monophasic Synovial Sarcoma

A monophasic synovial sarcoma arising from the lungs.


Refractory Rhabdomyosarcoma

Rhabdomyosarcoma that does not respond to treatment.


Digestive System Rhabdomyosarcoma

A rhabdomyosarcoma arising from an anatomic site in the digestive system.


orbit alveolar rhabdomyosarcoma

A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.


cervical alveolar soft part sarcoma

An alveolar soft part sarcoma arising from the cervix.


Recurrent Ectomesenchymoma

The reemergence of ectomesenchymoma after a period of remission.


Solid Alveolar Rhabdomyosarcoma

A morphologic variant of alveolar rhabdomyosarcoma.  It is characterized by the presence of a solid growth pattern and the absence of fibrovascular stroma.


prostate rhabdomyosarcoma

A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.


Leiomyosarcoma NCI Grade 3

A leiomyosarcoma with more than 15% necrosis.


Cardiac Rhabdomyosarcoma

A rare malignant mesenchymal tumor with skeletal muscle differentiation arising within the myocardium.  It is characterized by the presence of small round spindle cells.  Most cardiac rhabodomyosarcomas are of embryonal type and usually present in children and young adults.


Recurrent Rhabdomyosarcoma

The reemergence of rhabdomyosarcoma after a period of remission.


Unresectable Synovial Sarcoma

Synovial sarcoma that is not amenable to surgical resection.


Vulvar Rhabdomyosarcoma

A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vulva.


uncoating of virus

The process by which an incoming virus is disassembled in the host cell to release a replication-competent viral genome.


Catalysis of the hydrolysis of the alpha-(1->3) bonds of alpha-D-mannose residues in mannosyl-oligosaccharide.


left recurrent laryngeal nerve

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


digestive duplication cyst of the tongue

Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.


Adenosquamous cell lung cancer stage II

Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Lung Adenosquamous Carcinoma by AJCC v7 Stage

A term that refers to the staging of adenosquamous lung carcinoma, following the rules of the TNM AJCC v7 classification system.


Adenosquamous cell lung cancer stage III

Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage I

Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage IV

Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)