Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Anterior segment mesenchymal dysgenesis
Synonyms	Anterior segment ocular dysgenesis
ID	http://purl.bioontology.org/ontology/MESH/C537775
altLabel	Anterior segment ocular dysgenesis
cui	C1862839
HM	D005124
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D005124
MDA	20100825
MeSH Frequency	62
MMR	20150817
notation	C537775
prefLabel	Anterior segment mesenchymal dysgenesis
SC	3
Scope Statement	A hereditary autosomal dominant eye abnormality characterized by anterior segment ocular dysgenesis, corneal opacity, cataracts, and normal to reduced visual acuity. Cornea and lens histology are abnormal. Mutations in the FOXE3 and PITX3 genes have been identified. OMIM: 107250
TERMUI	T743721 T743720
TH	OMIM (2013) ORD (2010)
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/RCD/P32..	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/107250	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU053769	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU073562	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU068801	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-A0019	SNMI	CUI
http://purl.obolibrary.org/obo/OMIM_107250	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537775	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU068801	OMIM	LOOM
http://identifiers.org/omim/107250	REXO	LOOM
http://identifiers.org/omim/107250	GEXO	LOOM
http://identifiers.org/omim/107250	RETO	LOOM