Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Axenfeld-Rieger syndrome type 3
Synonyms	Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
Definitions	An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
ID	http://purl.obolibrary.org/obo/DOID_0110122
database_cross_reference	OMIM:602482 ICD10CM:Q13.8
definition	An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
disease has basis in	http://purl.obolibrary.org/obo/SO_0001537
has exact synonym	Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss anterior chamber cleavage syndrome Rieger syndrome type 3 anterior segment mesenchymal dysgenesis RIEG3
has_obo_namespace	disease_ontology
id	DOID:0110122
label	Axenfeld-Rieger syndrome type 3
notation	DOID:0110122
prefLabel	Axenfeld-Rieger syndrome type 3
subClassOf	http://purl.obolibrary.org/obo/DOID_14686

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/602482	Online Mendelian Inheritance in Man	LOOM