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Human Disease

amyotrophic lateral sclerosis type 28

Term ID
DOID:0081382
Synonyms
Definition
An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/37339631/
References
Ontology
Human Disease   ( DOID:0081382 )
Relationships
is a type of
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Genes Involved
Zebrafish Models