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Mondo term (ID and Label)
MONDO:0800199 Angelman syndrome chromosome region
Reason for deprecation
I think that this is referring to the locus rather than a clinical phenotype. https://www.omim.org/entry/105830
"Approximately 70% of AS cases result from de novo maternal deletions involving chromosome 15q11.2-q13; approximately 2% result from paternal uniparental disomy of 15q11.2-q13; and 2 to 3% result from imprinting defects. A subset of the remaining 25% are caused by mutations in the gene encoding the ubiquitin-protein ligase E3A gene (UBE3A; 601623) (Kishino et al., 1997)." @ahamosh Am I reading into this correctly? While the Gene-Phenotype table on the OMIM page shows UBE3 as the associated gene; the locus 15q11.2-q13 is the "Angelman syndrome chromosome region" ?
Suggested term to consider
MONDO:0007113 (Angelman syndrome)
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The text was updated successfully, but these errors were encountered:
Mondo term (ID and Label)
MONDO:0800199 Angelman syndrome chromosome region
Reason for deprecation
I think that this is referring to the locus rather than a clinical phenotype. https://www.omim.org/entry/105830
"Approximately 70% of AS cases result from de novo maternal deletions involving chromosome 15q11.2-q13; approximately 2% result from paternal uniparental disomy of 15q11.2-q13; and 2 to 3% result from imprinting defects. A subset of the remaining 25% are caused by mutations in the gene encoding the ubiquitin-protein ligase E3A gene (UBE3A; 601623) (Kishino et al., 1997)."
@ahamosh Am I reading into this correctly? While the Gene-Phenotype table on the OMIM page shows UBE3 as the associated gene; the locus 15q11.2-q13 is the "Angelman syndrome chromosome region" ?
Suggested term to consider
MONDO:0007113 (Angelman syndrome)
Your nano-attribution (ORCID)
If you don't have an ORCID, you can sign up for one here
The text was updated successfully, but these errors were encountered: