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New term request - Sharpin-related autoimmune disorder
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closes #7706

- Definition
- PMID for definition
- Submitted user ORCID
- Exact synonym
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yshwetar committed Jul 2, 2024
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Expand Up @@ -574661,6 +574661,27 @@ is_a: MONDO:0022800 {source="https://clinicalgenome.org/affiliation/40065/", sou
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7379" xsd:anyURI

[Term]
id: MONDO:1040000
name: developmental and epileptic encephalopathy, 31A
subset: nord_rare
synonym: "Developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT []
synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD []
xref: OMIM:616346 {source="MONDO:equivalentTo"}
is_a: MONDO:0014598 ! developmental and epileptic encephalopathy, 31
property_value: http://purl.org/dc/elements/1.1/date "2024-07-02T13:45:16Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693

[Term]
id: MONDO:1040001
name: Sharpin-related autoinflammatory syndrome
def: "An auntoinflammatory disease in which the cause of the disease is a mutation in the Sharpin gene." [] {source="PMID:38609546"}
synonym: "sharpenia" EXACT []
xref: https://orcid.org/0000-0002-0146-1162
is_a: MONDO:0019751 ! autoinflammatory syndrome
property_value: http://purl.org/dc/elements/1.1/date "2024-07-02T14:04:49Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693

[Term]
id: MONDO:8000000
name: infectious discitis
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