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many missing subclasses under neurodegenerative disease #8301

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ValWood opened this issue Nov 3, 2024 · 0 comments
Open

many missing subclasses under neurodegenerative disease #8301

ValWood opened this issue Nov 3, 2024 · 0 comments
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@ValWood
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ValWood commented Nov 3, 2024

Mondo term (ID and Label)

ataxia telangiectasia should be is_a neurodegenerative disease
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia.
should be
is_a neurodegenerative disease

Some ataxias present from birth (e.g., congenital cerebellar ataxia) are linked to developmental issues in the cerebellum rather than progressive degeneration. These forms may cause lifelong ataxia without worsening over time.

But, most ataxias under
autosomal recessive cerebellar ataxia (MONDO:0015244)
appear to be degenerative ?

Some ataxias present from birth (e.g., congenital cerebellar ataxia) are linked to developmental issues in the cerebellum rather than progressive degeneration. These forms may cause lifelong ataxia without worsening over time.

But these ones appear to be degenerative

Friedreich Ataxia (FXN1):
Neurodegenerative: Progressive neurodegeneration affecting the spinal cord, peripheral nerves, and cerebellum.

Autosomal Recessive Ataxia Due to Ubiquinone Deficiency (COQ8):
Neurodegenerative: Progressive loss of function in the cerebellum and other neurological symptoms due to mitochondrial dysfunction.

Spinocerebellar Ataxia, Autosomal Recessive 25 (ATG5):
Neurodegenerative: Linked to autophagy dysfunction, which leads to progressive cerebellar degeneration.

Spinocerebellar Ataxia, Autosomal Recessive 28 (THG1):
Neurodegenerative: Progressive cerebellar degeneration due to cellular maintenance dysfunctions.

Spinocerebellar Ataxia, Autosomal Recessive 29 (VPS41):
Neurodegenerative: Known to cause progressive degeneration in cerebellar and other brain regions.

Spinocerebellar Ataxia, Autosomal Recessive 30 (CYM1, SDD3):
Neurodegenerative: Features progressive cerebellar atrophy and related symptoms.

Spinocerebellar Ataxia, Autosomal Recessive 31 (ATG7):
Neurodegenerative: Linked to autophagy-related pathways that, when disrupted, lead to progressive neurodegeneration.

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 (TDP1):
Neurodegenerative: Progressive degeneration of both cerebellum and peripheral nerves.

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 (DBL8, SEN1):
Neurodegenerative: Similar to type 1, it involves progressive degeneration affecting both the cerebellum and axonal pathways.

Suggested revision and reasons

Your nano-attribution (ORCID)
If you don't have an ORCID, you can sign up for one here

@sabrinatoro sabrinatoro added user request A request from an external user curateathon2024 labels Nov 6, 2024
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