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add parent to familial mesial temporal lobe epilepsy
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nicolevasilevsky committed Jan 14, 2025
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3 changes: 2 additions & 1 deletion src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -242782,7 +242782,7 @@ is_a: MONDO:0005579 {source="https://www.epilepsydiagnosis.org/epilepsy/generali
is_a: MONDO:0020072 {source="Orphanet:64280/inferred", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
relationship: disease_has_feature HP:0002121 ! Generalized non-motor (absence) seizure
relationship: disease_has_feature HP:0011147 ! Typical absence seizure
relationship: excluded_subClassOf MONDO:0850093 {source="DOID:0050708", source="https://orcid.org/0000-0001-5208-3432"} ! absence epilepsy
relationship: excluded_subClassOf MONDO:0850093 {source="DOID:0050708", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete absence epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600131"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7360" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8280" xsd:anyURI
Expand Down Expand Up @@ -552207,6 +552207,7 @@ 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 ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/other-familial-temporal-lobe-overview.html]
is_a: MONDO:0005384 {source="https://orcid.org/0000-0002-4142-7153"} ! focal epilepsy
is_a: MONDO:0800492 {source="https://www.epilepsydiagnosis.org/syndrome/other-familial-temporal-lobe-overview.html"} ! variable-age onset focal epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI

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