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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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New OMIM data and existing Mondo record: ACTB-ASSOCIATED SYNDROMIC THROMBOCYTOPENIA #6597

Closed kanems closed 10 months ago

kanems commented 1 year ago

OMIM has a new record and includes an alt name that matches the primary record name in Mondo. My question is whether these two are the same, and does Mondo plan to map the new OMIM record to the existing Mondo ID? OR are they distinct concepts (the ClinGen record is broader? ) and the MIM record will get a new Mondo ID that is a child of the existing term?

OMIM 620475 (uses 'ACTB-ASSOCIATED SYNDROMIC THROMBOCYTOPENIA' as an alternate name) Mondo:0100433

It looks like ClinGen hasn't yet evaluted/curated the new MIM number either: https://search.clinicalgenome.org/kb/conditions/MONDO:0100433

MedGen's got a naming conflict here, so we'll follow the preferred names from Mondo and OMIM for now and keep separate until I hear otherwise.

nicolevasilevsky commented 10 months ago

@miajsullivan - is this term the same as the new OMIM term? Can we add the OMIM ID as an xref?

Thanks!

related to https://github.com/monarch-initiative/mondo/issues/4019

miajsullivan commented 10 months ago

HI,

I am not sure what new OMIM term you are referring to -> @.***

Looks like it would be close to the bottom phenotype – 620475. I think adding this as a xref is okay.

From: Nicole Vasilevsky @.> Sent: Monday, November 27, 2023 1:16 PM To: monarch-initiative/mondo @.> Cc: Mia Sullivan @.>; Mention @.> Subject: Re: [monarch-initiative/mondo] New OMIM data and existing Mondo record: ACTB-ASSOCIATED SYNDROMIC THROMBOCYTOPENIA (Issue #6597)

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Thanks!

related to #4019https://urldefense.com/v3/__https:/github.com/monarch-initiative/mondo/issues/4019__;!!PAXy-sJw!IveSIVteZx4qCk5CxQoOHfa84KJRUShi-ByoyNruvOjtghomly0x0RoY2pjTeT6lxZ2vcrZ88Bo6WJAT_QOl915jKw$

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nicolevasilevsky commented 10 months ago

@miajsullivan - apologies, it was mentioned above. Here it is: https://www.omim.org/entry/620475

miajsullivan commented 10 months ago

Yup, this looks like a very close phenotype.

From: Nicole Vasilevsky @.> Sent: Monday, November 27, 2023 1:23 PM To: monarch-initiative/mondo @.> Cc: Mia Sullivan @.>; Mention @.> Subject: Re: [monarch-initiative/mondo] New OMIM data and existing Mondo record: ACTB-ASSOCIATED SYNDROMIC THROMBOCYTOPENIA (Issue #6597)

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nicolevasilevsky commented 10 months ago

@miajsullivan so it is not exact though? We can add the OMIM as a separate child term if you do not consider them to be exact.

miajsullivan commented 10 months ago

I just went into my curation. I wanted to make sure of one thing, but now I feel confident that these are the same. And happy that I have more cases to add to the curation in clingen.

Clingen: “ACTB-associated syndromic thrombocytopenia is an autosomal dominant syndromic disorder characterized by developmental delay, mild intellectual disability, microcephaly, facial abnormalities, and thrombocytopenia with platelet anisotropy and enlarged platelets.”

OMIM: “Thrombocytopenia-8 with dysmorphic features and developmental delay (THC8) is an autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development From: Nicole Vasilevsky @.> Sent: Monday, November 27, 2023 1:36 PM To: monarch-initiative/mondo @.> Cc: Mia Sullivan @.>; Mention @.> Subject: Re: [monarch-initiative/mondo] New OMIM data and existing Mondo record: ACTB-ASSOCIATED SYNDROMIC THROMBOCYTOPENIA (Issue #6597)

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nicolevasilevsky commented 10 months ago

Excellent, thanks so much @miajsullivan, I appreciate the quick reply!

@kanems, I'll add the OMIM ID as an xref.