New term TRIP11 related skeletal dysplasia #7873
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- Included new parent term 'TRIP11 skeletal related dysplasia'. Added dbxref: PMID: 20089971; 30728324, 31903676 - Placed 'achondrigenesis type 1A' and 'odontochondrodysplasia' as a subclass - odontochondrodysplasia: Added sources PMID: 30728324, 31903676 - achondrigenesis type 1A: Added sources PMID: 20089971, 31903676
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@yshwetar
There are a few things to be changed in this PR.
Updating the MONDO ID might be a bit tricky. Also, we should have a quick discussion about using why we did not use a pattern here.
We can discuss this during our next chat.
| [Term] | ||
| id: MONDO:0000000 | ||
| name: TRIP11 related skeletal dysplasia | ||
| def: "TRIP11 related skeletal dysplasia describes both achondrogenesis type 1a and ondontochondrodysplasia. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1a, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes." [PMID:20089971, PMID:30728324, PMID:31903676] |
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type 1A should be capitalized
| id: MONDO:0000000 | ||
| name: TRIP11 related skeletal dysplasia | ||
| def: "TRIP11 related skeletal dysplasia describes both achondrogenesis type 1a and ondontochondrodysplasia. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1a, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes." [PMID:20089971, PMID:30728324, PMID:31903676] | ||
| is_a: MONDO:0018230 ! skeletal dysplasia |
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there should be a source on the parent class
| @@ -71,6 +71,14 @@ property_value: IAO:0000700 MONDO:0021125 | |||
| property_value: IAO:0000700 MONDO:0021178 | |||
| property_value: IAO:0000700 MONDO:0042489 | |||
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| [Term] | |||
| id: MONDO:0000000 | |||
| name: TRIP11 related skeletal dysplasia | |||
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for all of the gene related diseases, we usually write them as TRIP11-related skeletal dysplasia (with a dash), could you please revise this as such and add this label as an exact synonym? Thanks!
| [Term] | ||
| id: MONDO:0000000 | ||
| name: TRIP11 related skeletal dysplasia | ||
| def: "TRIP11 related skeletal dysplasia describes both achondrogenesis type 1a and ondontochondrodysplasia. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1a, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes." [PMID:20089971, PMID:30728324, PMID:31903676] |
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For the definition, the definitions should start with the parent class and not mention the disease label, because they can change. This disease should also follow this pattern: https://github.com/monarch-initiative/mondo/blob/master/src/patterns/dosdp-patterns/disease_series_by_gene.yaml
I suggest revising the definition to:
Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes." [PMID:20089971, PMID:30728324, PMID:31903676]
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Note, I don't think it is necessary to mention "TRIP11 related skeletal dysplasia describes both achondrogenesis type 1a and ondontochondrodysplasia." because these are subclasses and that is implied.
| is_a: MONDO:0018230 ! skeletal dysplasia | ||
| property_value: http://purl.org/dc/elements/1.1/date "2024-06-27T14:50:03Z" xsd:dateTime | ||
| property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693 | ||
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please add the term tracker item (link to the GitHub URL for this term):
https://mondo.readthedocs.io/en/latest/editors-guide/f-entities/#term-tracker-item
For issue #7782