Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	nemaline myopathy 3
Synonyms	NEM3
Definitions	A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
ID	http://purl.obolibrary.org/obo/DOID_0110927
database_cross_reference	OMIM:161800
definition	A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
has exact synonym	NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0110927
label	nemaline myopathy 3
notation	DOID:0110927
prefLabel	nemaline myopathy 3
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/OMIM/161800	Online Mendelian Inheritance in Man	LOOM