Modify schwannomatosis terms #8331
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@sabrinatoro can this be reviewed this week? |
sabrinatoro
approved these changes
Nov 13, 2024
| id: MONDO:1030016 | ||
| name: 22q-related schwannomatosis | ||
| def: "A schwannomatosis that causes a predisposition to develop multiple schwannoma. It is diagnosed when an individual does not meet criteria for NF2-related schwannomatosis, SMARCB1-related schwannomatosis, or LTZR1-related schwannomatosis and both of the following molecular features exist: a loss of heterozygosity (LOH) of the same chromosome 22q markers in two anatomically distinct tumors or hybrid nerve sheath tumors and a different NF2 pathogenic variant in each tumor which cannot be detected in unaffected tissue." [PMID:35674741] | ||
| is_a: MONDO:0008075 ! schwannomatosis |
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a source is needed for this SubClassOf
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closes #7663
Please see ticket for summary of changes expected in this ticket