Amyotrophic Lateral Sclerosis Type 28
Disease ID: disease_node_14037
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| Dbxref | MIM:620452 |
|---|---|
| Subclassof | DOID_0050736, DOID_332 |
| Data Source | DOID |
| Doid Label | amyotrophic lateral sclerosis type 28 |
| Doid Description | 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. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147, SO_0002165 |
| Disease Node Id | disease_node_14037 |
| Doid Id | DOID_0081382 |
| Label | Amyotrophic Lateral Sclerosis Type 28 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)