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Update DEE31A and 31B #7934

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Jul 12, 2024
Merged

Update DEE31A and 31B #7934

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bf546cd
Update DEE31A and 31B
yshwetar Jul 8, 2024
5f1c740
Update definitons for 31A and 31B
yshwetar Jul 9, 2024
53e2171
Updated DEE31A and 31B definitions
yshwetar Jul 10, 2024
46b26a1
Removing letter capitalization
yshwetar Jul 11, 2024
3993699
DEE31B lower case synonym
yshwetar Jul 12, 2024
c7c1449
add term tracker item
nicolevasilevsky Jul 12, 2024
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12 changes: 8 additions & 4 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -334863,15 +334863,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/

[Term]
id: MONDO:0014598
name: developmental and epileptic encephalopathy, 31
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." [MONDO:patterns/disease_series_by_gene]
name: developmental and epileptic encephalopathy, 31A
def: "Autosomal dominant neurologic disorder presenting with global developmental delay apparent in early infancy." [https://orcid.org/0000-0002-0587-4693, MONDO:patterns/disease_series_by_gene, OMIM:616346]
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subset: gard_rare {source="GARD:16094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE31" BROAD ABBREVIATION [OMIM:616346]
synonym: "DEE31A" EXACT [OMIM:616346]
synonym: "developmental and epileptic encephalopathy 31" BROAD [OMIM:616346, OMIM:genemap2]
synonym: "Developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [https://orcid.org/0000-0001-9310-0163]
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synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD []
synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD [https://orcid.org/0000-0001-9310-0163]
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synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" EXACT [MONDO:design_pattern]
synonym: "EIEE31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616346]
synonym: "epileptic encephalopathy, early infantile, 31" EXACT [MONDO:Lexical, OMIM:616346]
Expand Down Expand Up @@ -553738,10 +553740,12 @@ is_a: MONDO:0019952 {source="OMIM:620351"} ! congenital myopathy
[Term]
id: MONDO:0957248
name: developmental and epileptic encephalopathy 31B
def: "Autosomal recessive neurologic disorder characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay." [https://orcid.org/0000-0002-0587-4693, OMIM:620352]
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subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD []
synonym: "Developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:620352]
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synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD [https://orcid.org/0000-0001-9310-0163]
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xref: DOID:0070376 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620352 {source="MONDO:equivalentTo"}
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