Metadata | |
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ID | DOID:0081375 |
Name | nemaline myopathy 5C |
Definition | A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/35510366/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant disease is_a nemaline myopathy |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |