All terms in MONDO_MATRIX

Label Id Description
apoptotic chromosome condensation GO_0030263
developmental and/or epileptic encephalopathy with spike-wave activation in sleep MONDO_0800501 [A spectrum of conditions with varied degree of cognitive, language, behavioral, and motor regression associated with marked spike-wave activation in sleep. The regression is seen within weeks of the EEG pattern. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy). Landau–Kleffner syndrome is a specific subtype of EE-SWAS, where regression affects mainly language, with an acquired auditory agnosia.]
[X] childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy MONDO_0800500 [A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition.]
[X] childhood-onset self-limited focal epilepsy syndrome MONDO_0800502 [A group of conditions characterized by age-dependent occurrence in otherwise normal children. Cognition and neurological evaluation are typically normal. Remission occurs in almost all patients by puberty. Presumed genetic factors have an important role. Seizure semiology and electroencephalographic (EEG) features are specific for each of the syndromes included in this group.]
childhood-onset epilepsy syndrome MONDO_0020072 [A epilepsy syndrome that occurs during childhood.]
focal epilepsy MONDO_0005384 [A seizure caused by a localized disorder.]
TMEM63B-related developmental and epileptic encephalopathy with anemia MONDO_0800503 [A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities.]
developmental and epileptic encephalopathy MONDO_0100062 [A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.]
KPTN 6404
KRAS 6407
wall of fallopian tube UBERON_0036441
mesoderm-derived structure UBERON_0004120
reproductive structure UBERON_0005156
anatomical wall UBERON_0000060
protein kinase activator activity GO_0030295
kinase activator activity GO_0019209
MAFB 6408
biologic therapy MAXO_0000015
protein serine/threonine kinase inhibitor activity GO_0030291
protein kinase inhibitor activity GO_0004860