merge myoclonic-astatic epilepsy (#8577)

close #8287

Author: nicolevasilevsky

src/ontology/mondo-edit.obo

@@ -325844,7 +325844,7 @@ xref: UMLS:C3809278 {source="MEDGEN:815608", source="MONDO:equivalentTo", source
 is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome
 is_a: MONDO:0100062 {source="OMIM:615369"} ! developmental and epileptic encephalopathy
 relationship: excluded_subClassOf MONDO:0005579 {source="DOID:0060475", source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic generalized epilepsy
-relationship: excluded_subClassOf MONDO:0016025 {source="Orphanet:1942/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! myoclonic-astatic epilepsy
+relationship: excluded_subClassOf MONDO:0016025 {source="Orphanet:1942/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete myoclonic-astatic epilepsy
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1917 {source="MONDO:mim2gene_medgen", source="OMIM:615369"} ! CHD2
 
 [Term]
@@ -338345,20 +338345,48 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/
 id: MONDO:0014633
 name: myoclonic-atonic epilepsy
 def: "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 and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." [DOID:0060475]
-subset: gard_rare {source="GARD:16108", source="MONDO:GARD"}
+subset: gard_rare {source="GARD:16108", source="GARD:2169", source="MONDO:GARD"}
 subset: nord_rare {source="MONDO:NORD", source="NORD:2035"}
+subset: ordo_disorder {source="Orphanet:1942"}
+subset: orphanet_rare {source="Orphanet:1942"}
+subset: otar {source="MONDO:OTAR"}
 subset: rare
+synonym: "Doose syndrome" EXACT [GARD:0002169, icd11.foundation:951920505, Orphanet:1942]
+synonym: "EMAS" EXACT ABBREVIATION [Orphanet:1942]
+synonym: "EMAtS" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-atonic-overview.html]
+synonym: "epilepsy with myoclonic atonic seizures" EXACT [https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-atonic-overview.html]
+synonym: "epilepsy with myoclonic-astatic seizures" EXACT [GARD:0002169, icd11.foundation:951920505, Orphanet:1942]
+synonym: "epilepsy with myoclonic-atonic seizures" EXACT [Orphanet:1942, PMID:37498137]
+synonym: "epilepsy with myoclono-astatic crisis" RELATED [GARD:0002169]
 synonym: "MAE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616421]
+synonym: "myoclonic astatic epilepsy" RELATED [GARD:0002169]
 synonym: "Myoclonic Atonic Epilepsy" EXACT [NORD:2035]
+synonym: "myoclonic atonic epilepsy" EXACT [Orphanet:1942]
+synonym: "myoclonic-astatic epilepsy in early childhood" EXACT [Orphanet:1942]
 synonym: "myoclonic-atonic epilepsy" EXACT [DOID:0060475, MONDO:Lexical, OMIM:616421]
 xref: DOID:0060475 {source="MONDO:equivalentTo"}
 xref: GARD:16108 {source="MONDO:GARD"}
+xref: GARD:2169 {source="MONDO:GARD"}
+xref: ICD10CM:G40.4 {source="Orphanet:1942", source="Orphanet:1942/attributed", source="Orphanet:1942/ntbt"}
+xref: icd11.foundation:951920505 {source="MONDO:equivalentTo", source="Orphanet:1942", source="https://orcid.org/0000-0001-5208-3432"}
+xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
+xref: MEDGEN:98284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
+xref: NANDO:1200590 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
 xref: NORD:2035 {source="MONDO:NORD"}
 xref: OMIM:616421 {source="MONDO:equivalentTo"}
-xref: Orphanet:1942 {source="OMIM:616421"}
-is_a: MONDO:0016025 {source="Orphanet:1942/btnt"} ! myoclonic-astatic epilepsy
+xref: Orphanet:1942 {source="GARD:0002169", source="MONDO:equivalentTo", source="OMIM:616421"}
+xref: SCTID:230421008 {source="MONDO:equivalentTo"}
+xref: UMLS:C0393702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98284"}
+is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
+is_a: MONDO:0020072 {source="Orphanet:1942", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
+is_a: MONDO:0800500 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-atonic-overview.html"} ! childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
+relationship: excluded_subClassOf MONDO:0019216 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid transport
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11042 {source="MONDO:mim2gene_medgen", source="OMIM:616421"} ! SLC6A1
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8287" xsd:anyURI
+property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy" xsd:anyURI {source="GARD:0002169"}
+property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-atonic-overview.html" xsd:string
 
 [Term]
 id: MONDO:0014634
@@ -367908,45 +367936,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/
 
 [Term]
 id: MONDO:0016025
-name: myoclonic-astatic epilepsy
-def: "A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." [https://orcid.org/0000-0001-5208-3432, Orphanet:1942]
-comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0014633 myoclonic-atonic epilepsy'
-subset: gard_rare {source="GARD:2169", source="MONDO:GARD"}
-subset: nord_rare {source="MONDO:NORD"}
-subset: obsoletion_candidate
-subset: ordo_disorder {source="Orphanet:1942"}
-subset: orphanet_rare {source="Orphanet:1942"}
-subset: otar {source="MONDO:OTAR"}
-subset: rare
-synonym: "Doose syndrome" EXACT [GARD:0002169, icd11.foundation:951920505, Orphanet:1942]
-synonym: "EMAS" EXACT ABBREVIATION [Orphanet:1942]
-synonym: "epilepsy with myoclonic atonic seizures" EXACT [PMID:37498137]
-synonym: "epilepsy with myoclonic-astatic seizures" EXACT [GARD:0002169, icd11.foundation:951920505, Orphanet:1942]
-synonym: "epilepsy with myoclonic-atonic seizures" EXACT [Orphanet:1942]
-synonym: "epilepsy with myoclono-astatic crisis" RELATED [GARD:0002169]
-synonym: "MAE" RELATED ABBREVIATION []
-synonym: "myoclonic astatic epilepsy" RELATED [GARD:0002169]
-synonym: "myoclonic atonic epilepsy" EXACT [Orphanet:1942]
-synonym: "myoclonic-astatic epilepsy in early childhood" EXACT [Orphanet:1942]
-xref: GARD:2169 {source="MONDO:GARD"}
-xref: ICD10CM:G40.4 {source="Orphanet:1942", source="Orphanet:1942/attributed", source="Orphanet:1942/ntbt"}
-xref: icd11.foundation:951920505 {source="MONDO:equivalentTo", source="Orphanet:1942", source="https://orcid.org/0000-0001-5208-3432"}
-xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
-xref: MEDGEN:98284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
-xref: NANDO:1200590 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
-xref: Orphanet:1942 {source="GARD:0002169", source="MONDO:equivalentTo"}
-xref: SCTID:230421008 {source="MONDO:equivalentTo"}
-xref: UMLS:C0393702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98284"}
-is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
-is_a: MONDO:0020072 {source="Orphanet:1942", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
-is_a: MONDO:0800500 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-atonic-overview.html"} ! childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
-relationship: excluded_subClassOf MONDO:0019216 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid transport
-property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
+name: obsolete myoclonic-astatic epilepsy
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8287" xsd:anyURI
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
-property_value: IAO:0006012 "2025-02-01" xsd:string
-property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy" xsd:anyURI {source="GARD:0002169"}
-property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/mei-overview.html" xsd:anyURI
+is_obsolete: true
+replaced_by: MONDO:0014633
 
 [Term]
 id: MONDO:0016026
@@ -552182,47 +552176,6 @@ 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:0800502
-name: childhood-onset self-limited focal epilepsy syndrome
-def: "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." [PMID:35503717]
-synonym: "childhood-onset SeLFE" EXACT [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
-is_a: MONDO:0005384 {source="https://orcid.org/0000-0002-4142-7153"} ! focal epilepsy
-is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! childhood-onset epilepsy syndrome
-property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
-
-[Term]
-id: MONDO:0800498
-name: childhood-onset genetic generalized epilepsy syndrome
-def: "A genetic generalized epilepsy that has an onset during childhood." [https://orcid.org/0000-0001-5208-3432]
-is_a: MONDO:0020072 {source="https://orcid.org/0000-0001-5208-3432"} ! childhood-onset epilepsy syndrome
-is_a: MONDO:0100575 {source="https://orcid.org/0000-0002-4142-7153"} ! genetic generalized epilepsy
-property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
-
-[Term]
-id: MONDO:0800499
-name: childhood-onset idiopathic generalized epilepsy syndrome
-def: "An idiopathic generalized epilepsy that has an onset during childhood." [https://orcid.org/0000-0001-5208-3432]
-is_a: MONDO:0005579 {source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic generalized epilepsy
-is_a: MONDO:0020072 {source="https://orcid.org/0000-0001-5208-3432"} ! childhood-onset epilepsy syndrome
-property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
-
-[Term]
-id: MONDO:0800500
-name: childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
-def: "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." [https://www.epilepsydiagnosis.org/encephalopathy.html]
-is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/encephalopathy.html"} ! childhood-onset epilepsy syndrome
-property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
-
-[Term]
-id: MONDO:0800501
-name: developmental and/or epileptic encephalopathy with spike-wave activation in sleep
-def: "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." [https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html]
-synonym: "DEE-SWAS" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html]
-synonym: "EE-SWAS" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html]
-is_a: MONDO:0800500 {source="https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html"} ! childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
-property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
-
 [Term]
 id: MONDO:0800487
 name: variable-age onset idiopathic generalized epilepsy syndrome
@@ -552306,6 +552259,47 @@ synonym: "EAF" EXACT [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.
 is_a: MONDO:0800492 {source="https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html"} ! variable-age onset focal epilepsy syndrome
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8455" xsd:anyURI
 
+[Term]
+id: MONDO:0800498
+name: childhood-onset genetic generalized epilepsy syndrome
+def: "A genetic generalized epilepsy that has an onset during childhood." [https://orcid.org/0000-0001-5208-3432]
+is_a: MONDO:0020072 {source="https://orcid.org/0000-0001-5208-3432"} ! childhood-onset epilepsy syndrome
+is_a: MONDO:0100575 {source="https://orcid.org/0000-0002-4142-7153"} ! genetic generalized epilepsy
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
+
+[Term]
+id: MONDO:0800499
+name: childhood-onset idiopathic generalized epilepsy syndrome
+def: "An idiopathic generalized epilepsy that has an onset during childhood." [https://orcid.org/0000-0001-5208-3432]
+is_a: MONDO:0005579 {source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic generalized epilepsy
+is_a: MONDO:0020072 {source="https://orcid.org/0000-0001-5208-3432"} ! childhood-onset epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
+
+[Term]
+id: MONDO:0800500
+name: childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
+def: "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." [https://www.epilepsydiagnosis.org/encephalopathy.html]
+is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/encephalopathy.html"} ! childhood-onset epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
+
+[Term]
+id: MONDO:0800501
+name: developmental and/or epileptic encephalopathy with spike-wave activation in sleep
+def: "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." [https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html]
+synonym: "DEE-SWAS" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html]
+synonym: "EE-SWAS" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html]
+is_a: MONDO:0800500 {source="https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html"} ! childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
+
+[Term]
+id: MONDO:0800502
+name: childhood-onset self-limited focal epilepsy syndrome
+def: "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." [PMID:35503717]
+synonym: "childhood-onset SeLFE" EXACT [https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html]
+is_a: MONDO:0005384 {source="https://orcid.org/0000-0002-4142-7153"} ! focal epilepsy
+is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! childhood-onset epilepsy syndrome
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI
+
 [Term]
 id: MONDO:0810000
 name: choroidal neovascularization