{"orpha":225707,"name":"Metabolic neurotransmission anomaly with epilepsy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-225707/","orphanet_url":"https://www.orpha.net/en/disease/detail/225707","names":{"fr":{"name":"Maladie métabolique par anomalie de la neurotransmission avec épilepsie"},"de":{"name":"Metabolische Neurotransmitter-Anomalie mit Epilepsie"},"es":{"name":"Enfermedad metabólica por anomalía de la neurotransmisión con epilepsia"},"it":{"name":"Anomalie metabolica della neurotrasmissione associata a epilessia"},"nl":{"name":"Metabole neurotransmissie-anomalie met epilepsie"},"pt":{"name":"Anomalia da neurotransmissão metabólica com epilepsia"},"pl":{"name":"Wada metabolizmu neuroprzekaźników z padaczką"},"cs":{"name":"Anomálie neurotransmise s epilepsií"},"uk":{"name":"Метаболічна аномалія нейротрансмісії з епілепсією"},"zh":{"name":"代谢神经传递异常伴癫痫"},"tr":{"name":"Epilepsi ile seyreden metabolik nörotransmisyon anomalisi"}},"xrefs":[{"source":"MONDO","code":"16404","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680901","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166481,"name":"Metabolic diseases with epilepsy","classifications":[156,181]}],"children":[{"orpha":65287,"name":"Beta-ureidopropionase deficiency","type":"Disease"},{"orpha":2066,"name":"Gamma-aminobutyric acid transaminase deficiency","type":"Disease"},{"orpha":79219,"name":"Metabolic disease involving other neurotransmitter deficiency","type":"Category"},{"orpha":79096,"name":"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy","type":"Disease"},{"orpha":3006,"name":"Pyridoxine-dependent-developmental and epileptic encephalopathy","type":"Disease"},{"orpha":675775,"name":"Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome","type":"Disease"},{"orpha":22,"name":"Succinic semialdehyde dehydrogenase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}