Online Mendelian Inheritance in Man - AXENFELD-RIEGER SYNDROME, TYPE 3 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	AXENFELD-RIEGER SYNDROME, TYPE 3
Synonyms	ANTERIOR CHAMBER CLEAVAGE SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/602482
altLabel	ANTERIOR CHAMBER CLEAVAGE SYNDROME AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS RIEGER SYNDROME, TYPE 3 RIEG3
cui	C2678503
Gene Locus	6p25
Gene Symbol	FKHL7 FOXC1 IRID1 FREAC3 RIEG3 ASGD3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU002029 http://purl.bioontology.org/ontology/OMIM/MTHU004635 http://purl.bioontology.org/ontology/OMIM/MTHU025411 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU013074 http://purl.bioontology.org/ontology/OMIM/MTHU029309 http://purl.bioontology.org/ontology/OMIM/MTHU025020 http://purl.bioontology.org/ontology/OMIM/MTHU037209 http://purl.bioontology.org/ontology/OMIM/MTHU001096 http://purl.bioontology.org/ontology/OMIM/MTHU025409 http://purl.bioontology.org/ontology/OMIM/MTHU036375 http://purl.bioontology.org/ontology/OMIM/MTHU000619 http://purl.bioontology.org/ontology/OMIM/MTHU025410 http://purl.bioontology.org/ontology/OMIM/MTHU021458 http://purl.bioontology.org/ontology/OMIM/MTHU015783 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU002570
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602482
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	AXENFELD-RIEGER SYNDROME, TYPE 3
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C535679	Medical Subject Headings	CUI
	http://purl.obolibrary.org/obo/DOID_0110122	Human Disease Ontology 123	LOOM