mondo

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Hi! I wanted to notice that both of these conditions are caused by mutations in the BRAT1 gene (there are some publications about BRAT1 related disorders and Orphanet links both...

galyea123

**Preferred gene-related syndrome label** TMEM63B-related developmental and epileptic encephalopathy with anaemia **Synonyms** **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO_0100062 **Definition** A developmental and epileptic encephalopathy caused by...

ens-ecibrian

juvenile absence epilepsy MONDO:0011876 this term is both a disease and a susceptibility. OMIM:607631 represents a susceptibility Orphanet: 1941 represents a disease

sabrinatoro

[Revise subclass] spinal muscular atrophy-progressive myoclonic epilepsy syndrome

4

**Mondo term (ID and Label)** spinal muscular atrophy-progressive myoclonic epilepsy syndrome **Suggested revision and reasons** Should be subclass of spinal muscular atrophy **Your nano-attribution (ORCID)** If you don't have an...

pnrobinson

[Merge] Progeria with Progeroid Syndrome

7

**Mondo term (ID and Label)** Progeroid Syndrome MONDO:0020732 **Reason for deprecation** Listed under progeroid syndrome in the ontology is a list of diseases associated with this group defined by diseases...

megankraus

Hi! I am so sorry for the long delay. This is Elizabeth McCormick from the Mito GCEP. We met in August about updating the nomenclature for genes associated with primary...

mccormickem

Addresses #8082 @cmungall Could you please review this? Is this what you had in mind? I know using "or" in logical definition is not great, but it is what would...

sabrinatoro

**Mondo term (ID and Label)** MONDO:0014934 'spinocerebellar ataxia, autosomal recessive 24' **Suggested revision and reasons** This term is currently classified as a "autosomal dominant cerebellar ataxia" and the definition is...

katiermullen

**Mondo term (ID and Label):** MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related **Suggested new label:** MONDO:0010317 intellectual disability, X-linked, with or without seizures, **ARX**-related **Your nano-attribution (ORCID)** If...

kanems

query proposed obsoletion of MONDO:0024321 | disorder of GPI anchor biosynthesis

2

re MONDO:0024321 | disorder of GPI anchor biosynthesis This seems like a useful grouping term. Can you describe more fully the reason for obsoletion.? https://github.com/monarch-initiative/mondo/blob/master/src/ontology/reports/mondo_obsoletioncandidates.tsv

ValWood