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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Term Review request: mitochondrial complex IV deficiency nuclear type 17 #1311

Closed vjenkinsFB closed 2 months ago

vjenkinsFB commented 3 months ago

For mitochondrial complex IV deficiency nuclear type 17:

id: DOID:0070502 name: mitochondrial complex IV deficiency nuclear type 17 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the APOPT1 gene on chromosome 14q32.33." [url:https\://pubmed.ncbi.nlm.nih.gov/25175347/]

ADOPT1 has been renamed COA8: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20492

Thank you!

csbjohnson commented 2 months ago

Hi @vjenkinsFB,

Thank you for your term review request for mitochondrial complex IV deficiency nuclear type 17, we will review it soon.

Best, Claudia Marie Sánchez-Beato Johnson

csbjohnson commented 2 months ago

Hi @vjenkinsFB,

The gene name has been updated and it will be reflected in the next Disease Ontology release. Thank you for letting us know of this change!

Best, Claudia Marie Sánchez-Beato Johnson