MONDO:0035117 & MONDO:0033482 Spinocerebellar ataxia 47 [Merge]

[kanems]

Mondo term (ID and Label)
MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome

Reason for deprecation
Orpha is exact match to OMIM, per ORDO: http://www.orpha.net/ORDO/Orphanet_642747

Term to be merged with
MONDO:0033482 Spinocerebellar ataxia 47
Your nano-attribution (ORCID)
If you don't have an ORCID, you can sign up for one here

[sagehrke]

Dear @kanems,
Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely,
The Mondo Team

[katiermullen]

@kanems Thank you for this request!

In researching these terms, ORDO:642747 PUM1-related cerebellar ataxia has syn 'Adult-onset spinocerebellar ataxia type 47.' The definition is: "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."

In the term above, spinocerebellar ataxia type 47 which maps to MONDO:0033482, cognitive functions are normal and seizures are absent, which seems different than the term below:

MONDO:0035117 'PUM1-associated developmental disability-ataxia-seizure syndrome'. The definition is "A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities."

This publication seems to suggest that these are two conditions with different disease severity.

Please let me know your thoughts. Thank you!