| General Information | |||
|---|---|---|---|
| Term | amyotrophic lateral sclerosis type 28 | ID (Ontology) | DOID:0081382 (Human Disease) |
| 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. | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal dominant disease_____ motor neuron disease | |__amyotrophic lateral sclerosis__| amyotrophic lateral sclerosis type 28 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease amyotrophic lateral sclerosis |
||
| Part of | |||
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|
|||
| Secondary IDs | |||
|
|
|||
External Crossreferences & Linkouts
|
|||
| MIM:620452 | |||