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
sabrinatoro
requested changes
Jun 27, 2024
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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.
| @@ -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 | |||
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this new term needs a Mondo ID.
| 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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this SubClass of requires evidence (recorded as a source)
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For issue #7782