FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term juvenile amyotrophic lateral sclerosis type 27 ID (Ontology) DOID:0081381 (Human Disease)
Definition An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
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 juvenile amyotrophic lateral sclerosis type 27       1
 for disease ribbon | juvenile amyotrophic lateral sclerosis type 27       1
 model of | juvenile amyotrophic lateral sclerosis type 27       1
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autosomal genetic disease
 |__autosomal dominant disease_____
motor neuron disease               |
 |__amyotrophic lateral sclerosis__|
                                   juvenile amyotrophic lateral sclerosis type 27  1 rec.
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Is a autosomal dominant disease
amyotrophic lateral sclerosis
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MIM:620285