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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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WARS2-related combined oxidative phosphorylation defect and neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis with or without seizures #7508

Open galyea123 opened 3 months ago

galyea123 commented 3 months ago

Hi! I apologize for maybe not being using the right form for the request (currently in Brazil). I noticed that you have WARS2-related combined oxidative phosphorylation defect and neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis with or without seizures as separated conditions and they are the same condition (as per Orphanet and OMIM) I believe the terms should me merged into one and that WARS2-related combined oxidative phosphorylation defect (as per Orphanet) which should be the primary (preferred term) as per Orphanet and there is also a Gene Review article. Notice other synonyms: Mitochondrial tryptophanyl-tRNA synthetase deficiency as per Orphanet) and WARS2 deficiency Thank you! Gioconda

NOTE: GR notes in nomenclature: Other designations used in the literature to refer to individuals with phenotypes within the WARS2 deficiency spectrum include:

NEMMLAS (neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures) (OMIM 617710) Childhood-onset parkinsonism-dystonia 3 (OMIM 619738)

sabrinatoro commented 2 months ago

@galyea123 Could you please give more information on your request? It looks like MONDO:0060578 (neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis with or without seizures) is currently equivalent to ORPHA:572798 (Disorder) WARS2-related combined oxidative phosphorylation defect.

The Orphanet name should be added, but I cannot find the other Mondo term that should be merged.

Thank you!

sabrinatoro commented 1 month ago

@galyea123 please see question above. Thank you!

galyea123 commented 1 month ago

Hi Sabrina! I apologize for the confusion. You are right: I did not find WARS2-related combined oxidative phosphorylation defect disorder listed in MONDO. Please add the Orphanet term and the synonyms (Mitochondrial tryptophanyl-tRNA synthetase deficiency, as per Orphanet, and WARS2 deficiency, as per GeneReviews, and also WARS2-related disorders as per PubMed articles ) to MONDO:0060578 (neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis with or without seizures). Thank you! Gioconda