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Nemaline Myopathy 10

Disease ID: disease_node_18936

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Dbxref	MIM:616165
Subclassof	DOID_3191, DOID_0050737
Data Source	DOID
Synonyms	NEM10, congenital myopathy 10
Doid Label	nemaline myopathy 10
Doid Description	A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
Has Symptom	SYMP_0000094
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_18936
Doid Id	DOID_0110931
Label	Nemaline Myopathy 10

Outgoing r'ship HAS_SYMPTOM to/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Myopathies, Nemaline(ID:disease_node_9296) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)

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