RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
ANM; Amish nemaline myopathy; NEM5; nemaline myopathy 5, Amish type; nemaline myopathy, Amish type; nemaline myopathy, caused by mutation in the troponin t1 gene
DNA:nonsense mutation:exon:p.E180X (human) ClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene CTD Direct Evidence: marker/mechanism OMIM:605355
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