Mondo Disease Ontology - anterior segment dysgenesis 3 - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: May 9, 2024

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Preferred Name	anterior segment dysgenesis 3
Synonyms	iridogoniodysgenesis, type 1 iridogoniodysgenesis anomaly, autosomal dominant IRID1 FOXC1 iridogoniodysgenesis anterior segment dysgenesis 3, multiple subtypes ASGD3 anterior segment dysgenesis 3 IGDA syndrome iridogoniodysgenesis caused by mutation in FOXC1 iridogoniodysgenesis type 1 IGDA glaucoma iridogoniodysgenesia glaucoma iridogoniodysplasia, familial iris hypoplasia with glaucoma
Definitions	Editor note: check GARD re 2482 An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)
ID	http://purl.obolibrary.org/obo/MONDO_0024456
comment	Editor note: check GARD re 2482
database_cross_reference	MESH:C535535 DOID:0080608 GARD:2978 OMIM:601631 UMLS:C1839928
definition	An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)
exactMatch	http://purl.obolibrary.org/obo/DOID_0080608 https://omim.org/entry/601631 http://identifiers.org/mesh/C535535
has_exact_synonym	iridogoniodysgenesis, type 1 iridogoniodysgenesis anomaly, autosomal dominant IRID1 FOXC1 iridogoniodysgenesis anterior segment dysgenesis 3, multiple subtypes ASGD3 anterior segment dysgenesis 3 IGDA syndrome iridogoniodysgenesis caused by mutation in FOXC1 iridogoniodysgenesis type 1 IGDA
has_related_synonym	glaucoma iridogoniodysgenesia glaucoma iridogoniodysplasia, familial iris hypoplasia with glaucoma
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5789 https://github.com/monarch-initiative/mondo/issues/4521
id	MONDO:0024456
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#gard_rare
label	anterior segment dysgenesis 3
notation	MONDO:0024456
prefLabel	anterior segment dysgenesis 3
seeAlso	https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia
treeView	http://purl.obolibrary.org/obo/MONDO_0100235 http://purl.obolibrary.org/obo/MONDO_0002289 http://purl.obolibrary.org/obo/MONDO_0018174
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100235 http://purl.obolibrary.org/obo/MONDO_0002289 http://purl.obolibrary.org/obo/MONDO_0018174

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0024456	DOVES	SAME_URI
	http://purl.obolibrary.org/obo/DOID_0080608	DOID	LOOM
	http://purl.obolibrary.org/obo/DOID_0080608	HHEAR	LOOM
	http://purl.obolibrary.org/obo/DOID_0080608	NIFSTD	LOOM
	http://purl.obolibrary.org/obo/DOID_0080608	FNS-H	LOOM
	http://purl.obolibrary.org/obo/MONDO_0024456	DOVES	LOOM
	http://purl.bioontology.org/ontology/OMIM/601631	OMIM	LOOM