Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

obsolete_Axenfeld-Rieger syndrome

Synonyms

Axenfeld syndrome

Rieger syndrome

Definitions

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

ID

http://www.orpha.net/ORDO/Orphanet_782

Obsolete

true

database_cross_reference

OMIM:602482

OMIM:180500

OMIM:601499

UMLS:C0265341

MedDRA:10059255

MeSH:C535679

ICD10:Q13.8

definition

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

definition_citation

orphanet

deprecated

true

has_exact_synonym

Rieger syndrome

Axenfeld syndrome

label

obsolete_Axenfeld-Rieger syndrome

obsoleted_in_version

3.41.0

prefLabel

obsolete_Axenfeld-Rieger syndrome

reason_for_obsolescence

Replaced with Mondo term.

term replaced by

http://purl.obolibrary.org/obo/MONDO_0019187

subClassOf

http://www.w3.org/2002/07/owl#Thing

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http://www.orpha.net/ORDO/Orphanet_782 ORDO SAME_URI