Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	cataract 12 multiple types
Synonyms	CTRCT12
Definitions	A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
ID	http://purl.obolibrary.org/obo/DOID_0110239
database_cross_reference	OMIM:611597 ICD10CM:Q12.0
definition	A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
has exact synonym	CTRCT12
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110239
label	cataract 12 multiple types
notation	DOID:0110239
prefLabel	cataract 12 multiple types
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_83

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/611597	Online Mendelian Inheritance in Man	LOOM