search

DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
Creative Commons Zero v1.0 Universal
329 stars 108 forks source link

Term Review: chromosome 3-linked frontotemporal dementia #1308

Closed vjenkinsFB closed 3 months ago

vjenkinsFB commented 3 months ago

For the term chromosome 3-linked frontotemporal dementia, DOID:0111227:

OMIM calls this frontotemporal dementia and/or amyotrophic lateral sclerosis 7, https://www.omim.org/entry/600795, and includes it as part of that phenotypic series (https://www.omim.org/phenotypicSeries/PS105550). ClinVar is also using that term (search by CHMP2B[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties]) to see).

In PubMed, searching for https://pubmed.ncbi.nlm.nih.gov/?term=chromosome+3-linked+frontotemporal+dementia only gets 10 results.

Would DO consider renaming this disease and making it a child term of DOID:332, where the other FDT/ALS diseases are? Thank you!

csbjohnson commented 3 months ago

Hi @vjenkinsFB,

Thank you for your request . We'll review your term review for chromosome 3-linked frontotemporal dementia.

Best, Claudia Marie Sánchez-Beato Johnson

csbjohnson commented 3 months ago

Hi @vjenkinsFB,

Thank you for your request and for informing us about the renaming and OMIM PS of 'DOID:0111227'. I have implemented these changes, and they will be reflected in the next Disease Ontology Release.

Have a great day!