revise synonyms for 'developmental and epileptic encephalopathy, 31A' #8605
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nicolevasilevsky
requested review from
sabrinatoro and
twhetzel
as code owners
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@nicolevasilevsky I left some comments for you. Some of them are for my own knowledge. Thank you so much!
| @@ -558450,6 +558452,7 @@ name: developmental and epileptic encephalopathy, 31B | |||
| def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, OMIM:620352] | |||
| subset: gard_rare {source="MONDO:GARD"} | |||
| subset: rare | |||
| synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [OMIM:620352] | |||
| synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163] | |||
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Perhaps combine these above two lines?
Also this syn was not requested in the ticket, but I did find that OMIM lists the syn DEE31B.
| @@ -337633,6 +337634,7 @@ is_a: MONDO:0100062 {source="DC-OMIM:616346", source="MONDO:Redundant", source=" | |||
| relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2972 {source="MONDO:mim2gene_medgen", source="OMIM:616346"} ! DNM1 | |||
| property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI | |||
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question - when would you add the SC axiom 'has autosomal dominant disease' or the EC ('has characteristic' some 'Autosomal dominant inheritance')?
| synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] | ||
| synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" EXACT [] | ||
| synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD [https://orcid.org/0000-0001-5208-3432] | ||
| synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] |
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should the above two lines be combined even though they vary in capitalization?
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close #8019