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

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

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


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.


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


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.


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


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.)


beta-hexosaminidase subunit alpha isoform h1 (human)

A beta-hexosaminidase subunit alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P06865-1.


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.


transient receptor potential cation channel subfamily M member 4 isoform h3 (human)

A transient receptor potential cation channel subfamily M member 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TD43-3.


Refractory Small Intestinal Carcinoma

Small intestinal carcinoma that is resistant to treatment.


kallikrein-1 N-glycosylated 4 (human)

A kallikrein-1 (human) that has been N-glycosylated at the residue equivalent to Asn-102 of the amino acid sequence represented by UniProtKB:P06870-1, in which the glycan structure is represented by GlyTouCan:G23484GM. Example: UniProtKB:P06870-1, Asn-102, MOD:00160~GNO:G23484GM.


degenerative myopia

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


galectin-8 isoform h1 (human)

A galectin-8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00214-1.


Grade 1 Bladder Perforation, CTCAE

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


fibrochondrogenesis 2

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


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.


electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform h1 (human)

An electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UJS0-1.


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.


Grade 4 Upper Airway Infection NOS with Unknown Absolute Neutrophil Count, CTCAE


Retinal

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


serine/threonine-protein kinase SBK1

A protein that is a translation product of the human SBK1 gene or a 1:1 ortholog thereof.


NEDD8-activating enzyme E1 regulatory subunit isoform h4 (human)

A NEDD8-activating enzyme E1 regulatory subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13564-4.


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 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.


inositol monophosphatase 1 isoform h2 (human)

An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-2.


inositol monophosphatase 1

A protein that is a translation product of the human IMPA1 gene or a 1:1 ortholog thereof.


inositol monophosphatase 1 isoform h3 (human)

An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-3.


inositol monophosphatase 1 isoform h1 (human)

An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-1.


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.)


microsomal triglyceride transfer protein large subunit isoform h2 (human)

A microsomal triglyceride transfer protein large subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55157-2.


microsomal triglyceride transfer protein large subunit, signal peptide removed form (human)

A microsomal triglyceride transfer protein large subunit (human) that has had the signal peptide removed. UniProtKB:P55157, 19-894.


microsomal triglyceride transfer protein large subunit isoform h1 (human)

A microsomal triglyceride transfer protein large subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55157-1.


Grade 1 Neonatal Bradyarrhythmia, AE

An adverse event in a newborn characterized by brief, self-limiting, episodes of asymptomatic bradyarrhythmia; no care changes.


synaptosomal-associated protein 25 isoform 1 (human)

A synaptosomal-associated protein 25 isoform 1 that is encoded in the genome of human.


protein kinase C beta type isoform Beta-II (rat)

A protein kinase C beta type (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P68403-2.


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.


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.)


Stage IA Lung Adenosquamous 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 0 Lung Adenosquamous 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.)


Stage IIB Lung Adenosquamous 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 IIA Lung Adenosquamous 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.)


Adenosquamous cell lung cancer stage IIIB

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.)


Stage IB Lung Adenosquamous 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.)


Adenosquamous cell lung cancer stage IIIA

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.)


cyclin-A2 ubiquitinated form (human)

A cyclin-A2 (human) that includes at least one ubiquitinated lysine. UniProtKB:P20248, MOD:01148.


lethal osteosclerotic bone dysplasia

Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.


Conjunctival Subepithelial Nevus

A conjunctival nevus characterized by an intrastromal proliferation of predominantly type B nevus cells.


Grade 4 Meningitis, CTCAE

Life-threatening consequences; urgent intervention indicated


Bethlem myopathy

A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.


RHYNS syndrome

RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.


isolated focal cortical dysplasia type Ib


isolated focal cortical dysplasia type I


isolated focal cortical dysplasia type Ia


isolated focal cortical dysplasia type Ic


episodic kinesigenic dyskinesia

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.


episodic kinesigenic dyskinesia 1

An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder.


paroxysmal nonkinesigenic dyskinesia 1

Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.


episodic kinesigenic dyskinesia 2

A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.


paroxysmal nonkinesigenic dyskinesia 2

A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.


paroxysmal nonkinesigenic dyskinesia

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.


benign paroxysmal torticollis of infancy

Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.


dystonia 9

A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.


ECHS1-related paroxysmal dyskinesia

A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.


glutamate receptor 4 N-glycosylated 6 (rat)

A glutamate receptor 4 (rat) that has been N-glycosylated at the residue equivalent to Asn-258 of the amino acid sequence represented by UniProtKB:P19493-1, in which the glycan structure is represented by GlyTouCan:G60230HH. Example: UniProtKB:P19493-1, Asn-258, MOD:00160~GNO:G60230HH.


Cervical Rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the cervix. It is characterized by the presence of small nucleated rhabdomyoblasts within a fibrous and myxoid stroma.


Benign Cervical Soft Tissue Neoplasm

A rare benign mesenchymal neoplasm that arises from the cervix.


Cervical Leiomyoma

An uncommon benign smooth muscle neoplasm that arises from the cervix.


Grade 2 Upper Extremity Artery Injury, CTCAE


Metastatic Prostate Neuroendocrine Carcinoma

A neuroendocrine carcinoma that arises from the prostate gland and has spread to other anatomic sites.


Locally Advanced Prostate Neuroendocrine Carcinoma

A prostate neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Metastatic Prostate Small Cell Neuroendocrine Carcinoma

Prostate small cell neuroendocrine carcinoma that has spread to another anatomic site.


pyruvate kinase PKLR isoform R-type (human)

A pyruvate kinase PKLR isoform R-type that is encoded in the genome of human.


central nervous system mature teratoma

A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)


extragonadal germ cell tumor

A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).


adult central nervous system germ cell tumor

A germ cell tumor of the central nervous system occurring in adults.


adult central nervous system immature teratoma


gestational uterine corpus choriocarcinoma

A gestational choriocarcinoma that involves the body of uterus.


brain germinoma

A germinoma (disease) that involves the brain.


central nervous system germ cell tumor

A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.


adult central nervous system germinoma

A central nervous system germinoma that occurs in an adult.


gestational choriocarcinoma

Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.


adult central nervous system embryonal carcinoma

A embryonal carcinoma of the central nervous system that occurs in an adult.


polyembryoma of the ovary

A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.


testicular embryonal carcinoma

A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.


testicular yolk sac tumor, solid pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.


childhood ovarian yolk sac tumor

A yolk sac tumor that arises from the ovary and occurs in children.


pineal region choriocarcinoma

A choriocarcinoma (disease) that involves the pineal body.


central nervous system immature teratoma

A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)


ovarian yolk sac tumor

A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.


mediastinal malignant germ cell tumor

An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.


adult central nervous system teratoma

A mature or immature teratoma affecting the central nervous system and occurring in adults.


gestational ovarian choriocarcinoma

A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.


choriocarcinoma of the central nervous system

A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)


mediastinal yolk sac tumor

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


yolk sac tumor

A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.


pineal region dysgerminoma

A dysgerminoma (disease) that involves the pineal body.


malignant cardiac germ cell tumor

A rare malignant germ cell tumor that arises from the pericardium.


malignant teratoma of mediastinum

A malignant teratoma that involves the mediastinum.


mediastinal germ cell tumor

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


polyvesicular vitelline pattern testicular yolk sac tumor

A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.


yolk sac tumor of central nervous system

A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)


childhood central nervous system embryonal carcinoma

An embryonal carcinoma that arises from the central nervous system and occurs during childhood.


immature extragonadal teratoma

An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.


pineal region germinoma

A germinoma that arises from the pineal gland.


extragonadal non-dysgerminomatous germ cell tumor


embryonal carcinoma

A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).


adult yolk sac tumor

A yolk sac tumor that occurs in an adult.


reticular pattern testicular yolk sac tumor

A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.


childhood embryonal testis carcinoma

An embryonal carcinoma that arises from the testis during childhood.


testicular yolk sac tumor, myxomatous pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.


ovarian yolk sac tumor, glandular pattern

A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.


spinal cord dermoid cyst

A dermoid cyst that involves the spinal cord.


malignant peritoneal germ cell tumor

A malignant germ cell tumor that affects the peritoneum.


testicular yolk sac tumor, macrocystic pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.


testicular yolk sac tumor, endodermal sinus pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.


central nervous system germinoma

A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)


malignant pineal area germ cell neoplasm

A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.


testicular yolk sac tumor

A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.


mediastinum seminoma

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


polyembryoma

Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.


ovarian yolk sac tumor, hepatoid pattern

A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.


extragonadal teratoma

Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.


childhood central nervous system immature teratoma

An immature teratoma that arises from the central nervous system and occurs during childhood.


central nervous system nongerminomatous germ cell tumor

Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.


enteric pattern testicular yolk sac tumor

A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.


childhood central nervous system mature teratoma

A mature teratoma that arises from the central nervous system during childhood.


ovarian yolk sac tumor, polyvesicular vitelline pattern

A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.


childhood central nervous system germ cell tumor

A germ cell tumor of the central nervous system occurring in children.


childhood ovarian embryonal carcinoma

An embryonal carcinoma that arises from the ovary and occurs in children.


intratubular embryonal carcinoma

Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


cardiac germ cell tumor

A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.


childhood central nervous system germinoma

A germinoma arising from the central nervous system during childhood.


adult central nervous system mixed germ cell tumor

A mixed germ cell tumor of central nervous system that occurs in an adult.


childhood endodermal sinus tumor

A yolk sac tumor that occurs during childhood.


extragonadal germ cell cancer

A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.


adult central nervous system mature teratoma

A central nervous system mature teratoma that occurs in an adult.


primary germ cell tumor of central nervous system


pediatric CNS choriocarcinoma

A choriocarcinoma that arises from the central nervous system and occurs during childhood.


non-central nervous system-localized embryonal carcinoma


embryonal carcinoma of the central nervous system

A embryonal carcinoma that involves the central nervous system.


ovarian embryonal carcinoma

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


extragonadal nonseminomatous germ cell tumor

A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.


testicular yolk sac tumor, papillary pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.


testis polyembryoma

A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.


pineal region teratoma

A mature or immature teratoma that arises in the pineal region.


mixed extragonadal germ cell cancer

A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.


testicular yolk sac tumor, glandular-alveolar pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.


childhood central nervous system mixed germ cell tumor

A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.


mixed germ cell tumor of central nervous system

A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.


testicular yolk sac tumor, hepatoid pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.


childhood brain germinoma

A germinoma arising from the brain during childhood.


vaginal yolk sac tumor

A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.


childhood germ cell brain tumor

A germ cell tumor arising from brain during childhood.


central nervous system endodermal sinus tumor

A yolk sac tumor that arises from the central nervous system and occurs during childhood.


pineal region yolk sac tumor

A yolk sac tumor that involves the pineal body.


central nervous system teratoma

A mature or immature teratoma that affects the central nervous system.


Stage IVA Vaginal Cancer AJCC v8

Stage IVA includes: T4, Any N, M0. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. (from AJCC 8th Ed.)


Grade 5 Spermatic Cord Obstruction, CTCAE


sonic hedgehog protein N-product dually lipidated 1 (mouse)

A sonic hedgehog protein N-product in mouse that has been further modified on the N-terminal Cys residue by palmitoylation and the C-terminal Gly residue by cholesterylation. UniProtKB:Q62226, 25-198, Cys-25, MOD:00069|Gly-198, MOD:00314.


sonic hedgehog protein N-product dually lipidated 1 (human)

A sonic hedgehog protein N-product in human that has been further modified on the N-terminal Cys residue by palmitoylation and the C-terminal Gly residue by cholesterylation. UniProtKB:Q15465, 24-197, Cys-24, MOD:00069|Gly-197, MOD:00314.


sonic hedgehog protein, signal peptide removed form (mouse)

A sonic hedgehog protein, signal peptide removed form in mouse. UniProtKB:Q62226, 25-437.


idiopathic multidrug-resistant nephrotic syndrome


sodium/potassium-transporting ATPase subunit beta-2 isoform 1 (human)

A sodium/potassium-transporting ATPase subunit beta-2 isoform 1 that is encoded in the genome of human.


cerebral arteriopathy with subcortical infarcts and leukoencephalopathy


ABeta amyloidosis, dutch type

Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.


ABeta amyloidosis, Iowa type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.


ABetaL34V amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.


ABetaA21G amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.


ABeta amyloidosis, Italian type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.


ABeta amyloidosis, Arctic type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.


cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.