Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	nemaline myopathy 1
Synonyms	congenital myopathy 4B nemaline myopathy 1, autosomal dominant or recessive
Definitions	A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.
ID	http://purl.obolibrary.org/obo/DOID_0110926
database_cross_reference	MESH:C538348 OMIM:609284
definition	A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.
has exact synonym	congenital myopathy 4B nemaline myopathy 1, autosomal dominant or recessive NEM1
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has symptom	http://purl.obolibrary.org/obo/SYMP_0000094
has_obo_namespace	disease_ontology
id	DOID:0110926
label	nemaline myopathy 1
notation	DOID:0110926
prefLabel	nemaline myopathy 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_3191

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C538348	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/609284	Online Mendelian Inheritance in Man	LOOM