[NTR] telomere syndromes

[ValWood]

I am wondering why there is not a grouping term for telomere syndrome

definition (could be improved) Short telomere syndromes (STSs) are accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.

(we used to have a grouping term in DO)

is_a premature aging syndrome MONDO_0019303

**Children terms If this term is added (it. used to be in DO), I can look into locating the child terms

[ValWood]

children diskeratosis congenita and Uner Tan syndrome would be descendants

pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 might be a descendant depending whether this particular diseases is due to a length variation causing mutation

[ValWood]

Also, the telomerase RNA which we used to annotate directly to this term and is currently "disease-annotation-less"

[nicolevasilevsky]

what is Uner Tan syndrome? I don't see it in Mondo or OLS

[nicolevasilevsky]

@ValWood I added this term and sub-classified the children listed in Table 1 in this paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035054/

[ValWood]

was one of the only things that did not map from DO Uner Tan syndrome https://github.com/monarch-initiative/mondo/issues/1571

[nicolevasilevsky]

@ValWood could you provide some evidence that Uner Tan syndrome is a telomere syndrome?

[ValWood]

Whoops that is a mistake. I had something one more It's the disease associated with telomerase RNA (TERC), which I only had mapped to "telomere syndrome" and Uner Tan, I mixed them up.

TERC causes pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2

this one is a telomere syndrome

[nicolevasilevsky]

Should this term be a child of telomere syndrome (and its children)? MONDO_0000148 'pulmonary fibrosis and/or bone marrow failure, telomere-related'

[ValWood]

Yes I think so according to OMIM.

[ValWood]

Hi, I can';t find the short telomere syndrome term, was this added or wasn't it appropriate?

[ValWood]

Some background. We used to have a grouping terms for telomere syndromes.

This would include for example, dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485) A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2.

a definition Short telomere syndromes (STSs) are accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. Consequently, organ systems with increased cell turnover, such as the skin, bone marrow, lungs, and gastrointestinal tract, are commonly affected.

[ValWood]

I can put this in a new ticket if you like...

So my issue is that at the moment, trt1

dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485)

do not get linked to premature ageing

[nicolevasilevsky]

Hi Val- looks like I make 'short telomere' syndrome an exact synonym of MONDO_0100137 telomere syndrome. Would you like 'short telomere syndrome' to be the primary label? Is 'telomere syndrome' an appropriate synonym?

[nicolevasilevsky]

So my issue is that at the moment, trt1

dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485)

do not get linked to premature ageing

Is there action required here?

[ValWood]

Yes, thats odd I could not find "telomere syndrome" when I searched MONDO. I can use that. Does telomere syndrome have ancestry to "premature ageing syndrome"?

[ValWood]

dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485) should be is_a telomere syndrome

telomere_syndrome should be is_a "premature ageing syndrome"

I can open tickets for new/missing descendants of "telomere syndrome" as I find them.

[nicolevasilevsky]

'telomere syndrome' is a child of 'premature aging syndrome': https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0100137

[nicolevasilevsky]

dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485) should be is_a telomere syndrome

I added this, it will be available in the next release