Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ANTERIOR SEGMENT DYSGENESIS 3
Synonyms	IRIS HYPOPLASIA WITH GLAUCOMA
ID	http://purl.bioontology.org/ontology/OMIM/601631
altLabel	IRIS HYPOPLASIA WITH GLAUCOMA GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL IRIDOGONIODYSGENESIS, TYPE 1 IGDA IRID1 IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT ASGD3
cui	C1866560 C1839928 C1866561
Gene Locus	6p25
Gene Symbol	FKHL7 FOXC1 IRID1 FREAC3 RIEG3 ASGD3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU017307 http://purl.bioontology.org/ontology/OMIM/MTHU038539 http://purl.bioontology.org/ontology/OMIM/MTHU033249 http://purl.bioontology.org/ontology/OMIM/MTHU033247 http://purl.bioontology.org/ontology/OMIM/MTHU033245 http://purl.bioontology.org/ontology/OMIM/MTHU015095 http://purl.bioontology.org/ontology/OMIM/MTHU038540 http://purl.bioontology.org/ontology/OMIM/MTHU009726 http://purl.bioontology.org/ontology/OMIM/MTHU037209 http://purl.bioontology.org/ontology/OMIM/MTHU038538 http://purl.bioontology.org/ontology/OMIM/MTHU033246 http://purl.bioontology.org/ontology/OMIM/MTHU009480 http://purl.bioontology.org/ontology/OMIM/MTHU033244 http://purl.bioontology.org/ontology/OMIM/MTHU053770 http://purl.bioontology.org/ontology/OMIM/MTHU033248 http://purl.bioontology.org/ontology/OMIM/MTHU010162
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601631
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ANTERIOR SEGMENT DYSGENESIS 3
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080608	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/C566650	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C535535	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C535538	Medical Subject Headings	CUI