Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	nemaline myopathy 4
Synonyms	nemaline myopathy 4, autosomal dominant
Definitions	A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
ID	http://purl.obolibrary.org/obo/DOID_0110932
database_cross_reference	OMIM:609285 MESH:C538351
definition	A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
has exact synonym	nemaline myopathy 4, autosomal dominant CAP myopathy 2 NEM4
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110932
label	nemaline myopathy 4
notation	DOID:0110932
prefLabel	nemaline myopathy 4
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_3191

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C538351	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/609285	Online Mendelian Inheritance in Man	LOOM