| Metadata | |
|---|---|
| ID | DOID:0110936 |
| Name | nemaline myopathy 5A |
| Definition | A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. https://www.ncbi.nlm.nih.gov/pubmed/10952871 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Amish nemaline myopathy [EXACT] ANM [EXACT] NEM5 [EXACT] nemaline myopathy 5, Amish type [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a nemaline myopathy |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |