Disease #01448 (BTHLM1 (myopathy, Bethlem, type 1 (BTHLM-1)), OMIM:158810)
Official abbreviation |
BTHLM1 |
Name |
myopathy, Bethlem, type 1 (BTHLM-1) |
OMIM ID |
158810 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal dominant, Autosomal recessive |
Individuals reported having this disease |
168 |
Phenotype entries for this disease |
168 |
Associated with 3 genes |
COL6A1, COL6A2, COL6A3 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
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