monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Mass Obsoletion: focus on branch 'metabolic disease' (MONDO:0005066) #6750

Closed sabrinatoro closed 8 months ago

sabrinatoro commented 1 year ago

branch: 'metabolic disease' (MONDO:0005066) Terms to obsolete:

obsoletion candidate ID obsoletion candidate label
http://purl.obolibrary.org/obo/MONDO_0019597 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency
http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect
http://purl.obolibrary.org/obo/MONDO_0019213 cerebral organic aciduria
http://purl.obolibrary.org/obo/MONDO_0019800 chronic hepatic porphyria
http://purl.obolibrary.org/obo/MONDO_0018292 congenital disorder of glycosylation-related bone disorder
http://purl.obolibrary.org/obo/MONDO_0018277 congenital muscular dystrophy with cerebellar involvement
http://purl.obolibrary.org/obo/MONDO_0018279 congenital muscular dystrophy without intellectual disability
http://purl.obolibrary.org/obo/MONDO_0018144 congenital myasthenic syndromes with glycosylation defect
http://purl.obolibrary.org/obo/MONDO_0018318 disorder of asparagine metabolism
http://purl.obolibrary.org/obo/MONDO_0018579 disorder of ketone body transport
http://purl.obolibrary.org/obo/MONDO_0017709 disorder of lipid absorption and transport
http://purl.obolibrary.org/obo/MONDO_0017745 disorder of O-mannosylglycan synthesis
http://purl.obolibrary.org/obo/MONDO_0017743 disorder of O-N-acetylgalactosaminylglycan synthesis
http://purl.obolibrary.org/obo/MONDO_0017744 disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis
http://purl.obolibrary.org/obo/MONDO_0017760 disorder of other vitamins and cofactors metabolism and transport
http://purl.obolibrary.org/obo/MONDO_0017756 disorder of pterin metabolism
http://purl.obolibrary.org/obo/MONDO_0017132 hereditary ATTR amyloidosis
http://purl.obolibrary.org/obo/MONDO_0019224 inborn disorder of gamma-aminobutyric acid metabolism
http://purl.obolibrary.org/obo/MONDO_0019227 inborn disorder of glycerol metabolism
http://purl.obolibrary.org/obo/MONDO_0016805 isolated oxidative phosphorylation complex disorder
http://purl.obolibrary.org/obo/MONDO_0016815 Leigh syndrome with leukodystrophy
http://purl.obolibrary.org/obo/MONDO_0016816 Leigh syndrome with nephrotic syndrome
http://purl.obolibrary.org/obo/MONDO_0015902 major hypertriglyceridemia
http://purl.obolibrary.org/obo/MONDO_0016794 maternally-inherited mitochondrial myopathy
http://purl.obolibrary.org/obo/MONDO_0016797 multiple mitochondrial DNA deletion syndrome
http://purl.obolibrary.org/obo/MONDO_0020275 oculocutaneous or ocular albinism
http://purl.obolibrary.org/obo/MONDO_0016157 qualitative or quantitative defects of fukutin
http://purl.obolibrary.org/obo/MONDO_0016183 qualitative or quantitative defects of protein glycosyltransferase-like
http://purl.obolibrary.org/obo/MONDO_0016182 qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
http://purl.obolibrary.org/obo/MONDO_0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
http://purl.obolibrary.org/obo/MONDO_0019688 sulfation-related bone disorder
http://purl.obolibrary.org/obo/MONDO_0020240 syndromic retinitis pigmentosa
http://purl.obolibrary.org/obo/MONDO_0016803 unspecified inborn mitochondrial disorder
nicolevasilevsky commented 1 year ago

not to self - I should cross reference the metabolic disease ticket when I do this one (and I need to find the ticket)

nicolevasilevsky commented 1 year ago

this is ready for review.

I cross-referenced all of these terms against terms in this spreadsheet from this ticket: https://github.com/monarch-initiative/mondo/issues/4985

Note, some of the terms in the spreadsheet above do not exist in Mondo yet, so I classified them as 'metabolic disease' and we can add the more specific terms later when we complete that ticket

katiermullen commented 1 year ago

@nicolevasilevsky I reviewed this spreadsheet. Let me know what you think!

nicolevasilevsky commented 1 year ago

Thanks @katiermullen! I made updates per your review, it is ready for ROBOT/mass obs/PR now

sabrinatoro commented 11 months ago

Expert review feedback: https://docs.google.com/spreadsheets/d/1QRaZvmPBk0ifLKwvB6fHiEZpww-Prcp5/edit#gid=385348265

TO DO:

Note: Once the to-do list is done, 9 terms for which reviewers were unsure will remain to be assessed

sabrinatoro commented 8 months ago

There are some comments from the community that should be reviewed, but this is future work. This issue can be closed for now.