Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Axenfeld-Rieger syndrome type 1
Synonyms	Rieger syndrome type 1
Definitions	An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
ID	http://purl.obolibrary.org/obo/DOID_0110120
database_cross_reference	OMIM:180500 ICD10CM:Q13.8
definition	An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
disease has basis in	http://purl.obolibrary.org/obo/SO_0001537
has exact synonym	Rieger syndrome type 1 RIEG1
has_obo_namespace	disease_ontology
id	DOID:0110120
label	Axenfeld-Rieger syndrome type 1
notation	DOID:0110120
prefLabel	Axenfeld-Rieger syndrome type 1
subClassOf	http://purl.obolibrary.org/obo/DOID_14686

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/180500	Online Mendelian Inheritance in Man	LOOM