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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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ATP1A3- associated neurological disorders #3091

Closed brookepalus closed 3 years ago

brookepalus commented 3 years ago

Preferred gene-related syndrome label ATP1A3- associated neurological disorders

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Definition This is a request for a new term for neurological disorders associated with ATP1A3. This is the nomenclature used in Gene Reviews, which give the following definition: ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes.

Mondo and OMIM list the same three disease entities in association with ATP1A3: Dystonia 12, Alternating hemiplegia of childhood 2, and Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss (CAPOS). Using the ClinGen lumping and splitting guidelines, the ClinGen Syndromic Disorders GCEP determined that these three disease entities should be lumped together as a single entity. All three disease entities share overlapping features that can be considered a spectrum of disease, and there is no genotype-phenotype correlation (the same variants are associated with more than one disorder).

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID: 33762331 PMID: 31178018 PMID: 20301295

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

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brookepalus commented 3 years ago

Hi All, I want to check in regarding this Mondo ID request. Do you have an estimate for when the ID will be ready? This request is coming from ClinGen and we would like to publish the curation soon.

Many thanks for the help, Brooke

nicolevasilevsky commented 3 years ago

Hi @brookepalus - @sabrinatoro addded this term (thanks sabrina!) and the new ID is MONDO:0700002

It will be officially available in the next release, at the beginning of August.

brookepalus commented 3 years ago

Wonderful! Thank you, Nicole and Sabrina!