add new terms #8792

nicolevasilevsky · 2025-02-26T23:12:11Z

I created logical axioms for the terms and the superclasses are inferred (rather than asserting the superclasses)
I added the parent 'skeletal dysplasia' to osteochondrodysplasia because a synonym of osteochondrodysplasia is congenital skeletal dysplasia (this ensured the subclasses are inferred in [NTR/gene] SLC26A2-related skeletal dysplasia #8753)
add equiv axiom to 'osteogenesis imperfecta, COL1A2-related, dog' (see [NTR/gene] COL1A2-related osteogenesis imperfecta #8757)
exclude superclass from 'Kniest dysplasia' (as this is a feature) and update definition) (address [NTR/gene] COL2A1-related spondyloepiphyseal dysplasia #8763)

FYI, this is my robot template

close #8785
close #8753
close #8754
close #8757
close #8758
close #8759
close #8763
close #8778
close #8784

and superclass

a synonym of osteochondrodysplasia is congenital skeletal dysplasia

update def

update dbxrefs and source for 'TOR1AIP1-related nuclear envelopathy' and children

nicolevasilevsky and others added 10 commits February 26, 2025 15:10

add new terms

40fbfb7

Exclude QC

d64c8aa

add logical axiom

d8179f5

and superclass

Add parent 'skeletal dysplasia' to osteochondrodysplasia

ac5a1cf

a synonym of osteochondrodysplasia is congenital skeletal dysplasia

revise syn scope on osteochondrodysplasia

ab2df18

add synonym to MONDO:0008146 'osteogenesis imperfecta type 1'

ac7c6b5

add logical axiom and term tracker item

c546772

create equiv axiom for 'COL1A1-related Ehlers-Danlos syndrome'

a5f0f5f

exclude superclass from 'Kniest dysplasia'

5c1d750

update def

revise def - van Maldergem syndrome

6932b2a

update dbxrefs and source for 'TOR1AIP1-related nuclear envelopathy' and children

nicolevasilevsky requested a review from katiermullen February 27, 2025 00:24

nicolevasilevsky assigned katiermullen Feb 27, 2025

nicolevasilevsky marked this pull request as ready for review February 27, 2025 00:24

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