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add new term TMEM63B-related developmental and epileptic encephalopat… #8610

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Jan 23, 2025
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add new term TMEM63B-related developmental and epileptic encephalopat… #8610

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add new term TMEM63B-related developmental and epileptic encephalopat…
nicolevasilevsky Jan 20, 2025
e1c6860
add gene
nicolevasilevsky Jan 20, 2025
01c5c5e
revise label to American spelling
nicolevasilevsky Jan 22, 2025
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11 changes: 11 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -552568,6 +552568,17 @@ is_a: MONDO:0005384 {source="https://orcid.org/0000-0002-4142-7153"} ! focal epi
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:0800503
name: TMEM63B-related developmental and epileptic encephalopathy with anemia
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@nicolevasilevsky I see this term uses the UK spelling of 'anaemia.' I am wondering if it would be best if the term label is 'TMEM63B-related developmental and epileptic encephalopathy with anemia' and an exact synonym 'TMEM63B-related developmental and epileptic encephalopathy with anaemia' with has syn type 'UK spelling synonym' is added?

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good call! I will add this

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updated the label and synonyms

def: "A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities." [PMID:37421948]
synonym: "TMEM63B-related DEE with anaemia" EXACT OMO:0003005 [https://orcid.org/0000-0002-0987-9862]
synonym: "TMEM63B-related DEE with anemia" EXACT [https://orcid.org/0000-0002-0987-9862]
synonym: "TMEM63B-related developmental and epileptic encephalopathy with anaemia" EXACT OMO:0003005 [https://orcid.org/0000-0002-0987-9862]
is_a: MONDO:0100062 {source="PMID:37421948", source="https://orcid.org/0000-0002-0987-9862"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17735 {source="PMID:37421948"} ! TMEM63B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8159" xsd:anyURI

[Term]
id: MONDO:0810000
name: choroidal neovascularization
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