Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	anterior segment dysgenesis 3
Definitions	An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
ID	http://purl.obolibrary.org/obo/DOID_0080608
database_cross_reference	OMIM:601631
definition	An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0080608
label	anterior segment dysgenesis 3
notation	DOID:0080608
prefLabel	anterior segment dysgenesis 3
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0060648

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/601631	Online Mendelian Inheritance in Man	LOOM