Search Ontology:
Human Disease
nemaline myopathy 5B
- Term ID
- DOID:0080003
- Synonyms
-
- Definition
- A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset.
- References
- Ontology
- Human Disease ( DOID:0080003 )
- is a type of
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