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Disease association ontology term - MONDO:0018958 - nemaline myopathy

Term summary

ID
MONDO:0018958
Name
nemaline myopathy
Ontology or CV name
Disease association
Definition
Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.

Parents

Annotation

Disease association

MONDO:0018958 - nemaline myopathy

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Genes:

MONDO:0008070 - congenital myopathy 2a, typical, autosomal dominant

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Genes:

MONDO:0012239 - congenital myopathy 4B, autosomal recessive

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Genes:

MONDO:0009725 - nemaline myopathy 2

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Genes:

MONDO:0012538 - nemaline myopathy 7

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Genes: