WIP: add new epilepsy terms

close #8455

src/ontology/mondo-edit.obo

@@ -552109,6 +552109,84 @@ xref: UMLS:C0005944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source=
 is_a: MONDO:0005381 {source="NCIT:C97045"} ! bone disorder
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7006" xsd:anyURI
 
+[Term]
+id: MONDO:0800487
+name: variable-age onset idiopathic generalized epilepsy syndrome
+def: "Any idiopathic generalized epilepsy syndrome that has a variable-age onset." []
+is_a: MONDO:0100036 {source="https://orcid.org/0000-0001-5208-3432"} ! variable age onset epilepsy
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI
+
+[Term]
+id: MONDO:0800488
+name: neonatal/infantile-onset self-limited epilepsy syndrome
+def: "An epilepsy syndrome characterized by the onset of seizures in neonates/infants where there is a high likelihood of spontaneously remitting at a predictable age. " [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+is_a: MONDO:0100022 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! neonatal/infantile epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8454" xsd:anyURI
+
+[Term]
+id: MONDO:0800489
+name: genetic epilepsy with febrile seizures plus spectrum
+def: "A neonatal/infantile-onset self-limited familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy. Febrile seizures may be typical febrile seizures or 'febrile seizures plus' (FS+) may occur, where febrile seizures continue past 6 years of age and/or are accompanied by afebrile seizures which may be generalized or focal. FS+ and GEFS+ are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to both GEFS+ and FS+, with implications for specific genetic counselling, due to the variable severity of the epilepsy in different family members. Although febrile seizures are the hallmark of this familial syndrome, not all individuals in a family may have these." [https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html]
+synonym: "GEFS+" EXACT [https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html]
+is_a: MONDO:0100022 {source="https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html"} ! neonatal/infantile epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8454" xsd:anyURI
+
+[Term]
+id: MONDO:0800490
+name: neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy
+def: "A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments." [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+synonym: "NIE-SDE" EXACT [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+is_a: MONDO:0100022 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! neonatal/infantile epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8454" xsd:anyURI
+
+[Term]
+id: MONDO:0800491
+name: early-infantile DEE
+def: "A neonatal/infantile epilepsy syndrome characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination." [https://www.epilepsydiagnosis.org/syndrome/eme-overview.html]
+synonym: "early-infantile developmental and epileptic encephalopathy syndrome" EXACT [https://www.epilepsydiagnosis.org/syndrome/eme-overview.html]
+synonym: "EIDEE" EXACT [https://www.epilepsydiagnosis.org/syndrome/eme-overview.html]
+is_a: MONDO:0800490 {source="https://www.epilepsydiagnosis.org/syndrome/eme-overview.html"} ! neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8454" xsd:anyURI
+
+[Term]
+id: MONDO:0800492
+name: variable-age onset focal epilepsy syndrome
+def: "An epilepsy syndrome characterized by focal seizures where age at seizure onset varies. " [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+synonym: "VAOFAS" EXACT [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+is_a: MONDO:0800487 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! variable-age onset idiopathic generalized epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI
+
+[Term]
+id: MONDO:0800493
+name: familial mesial temporal lobe epilepsy
+def: "A focal epilepsy syndrome where the age at onset is typically in adolescence or adulthood. Affected individuals have focal aware seizures with mesial temporal lobe features, especially prominent déjà vu. Most patients have a normal MRI, and seizures respond to treatment. A subgroup is recognised that have antecedent febrile seizures, hippocampal atrophy, and drug resistant seizures. Direct questioning of relatives may be required to identify this familial epilepsy syndrome, as many individuals consider their déjà vu experiences as mild and they may not have been diagnosed as seizures." [https://www.epilepsydiagnosis.org/syndrome/other-familial-temporal-lobe-overview.html]
+synonym: "FMTLE" EXACT [https://www.epilepsydiagnosis.org/syndrome/other-familial-temporal-lobe-overview.html]
+is_a: MONDO:0800487 {source="https://www.epilepsydiagnosis.org/syndrome/other-familial-temporal-lobe-overview.html"} ! variable-age onset idiopathic generalized epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI
+
+[Term]
+id: MONDO:0800494
+name: variable-age onset combined generalized and focal epilepsy syndromes
+def: "An epilepsy syndrome characterized by a combined generalized and focal epilepsy syndromes where age at seizure onset varies." [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+is_a: MONDO:0800487 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! variable-age onset idiopathic generalized epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI
+
+[Term]
+id: MONDO:0800495
+name: variable age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration
+def: "An epilepsy syndrome characterized by seizures along with developmental and/or epileptic encephalopathy or progressive neurological deterioration where age at seizure onset varies." [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+synonym: "VAE-SDE/PND" EXACT [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+is_a: MONDO:0800487 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! variable-age onset idiopathic generalized epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI
+
+[Term]
+id: MONDO:0800496
+name: epilepsy with auditory features
+def: "A focal epilepsy syndrome with characteristic focal aware sensory auditory seizures. Seizures often produce such mild symptoms that they are not diagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. EAF may occur as a familial syndrome, familial EAF (FEAF, previous known as autosomal dominant lateral temporal lobe epilepsy or autosomal dominant partial epilepsy with auditory features). Inheritance may be autosomal dominant (ADEAF), with incomplete penetrance." [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html]
+synonym: "EAF" EXACT [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html]
+is_a: MONDO:0800487 {source="https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html"} ! variable-age onset idiopathic generalized epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI
+
 [Term]
 id: MONDO:0810000
 name: choroidal neovascularization