| Metadata | |
|---|---|
| ID | DOID:0070197 |
| Name | distal myopathy 1 |
| Definition | A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/7847377, https://www.ncbi.nlm.nih.gov/pubmed/15322983 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Distal myopathy type 1 [EXACT] Gowers disease [EXACT] Laing distal myopathy [EXACT] Laing early-onset distal myopathy [EXACT] MPD1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a distal myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |