Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Rieger anomaly

Synonyms
Definitions

Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).

ID

http://www.orpha.net/ORDO/Orphanet_91483

definition

Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483

hasDbXref

OMIM:602482

MedDRA:10059198

OMIM:601631

ICD-10:Q13.8

ICD-11:LA11.2

OMIM:137600

label

Rieger anomaly

notation

ORPHA:91483

part_of

http://www.orpha.net/ORDO/Orphanet_98634

prefixIRI

ORDO:Orphanet_91483

prefLabel

Rieger anomaly

treeView

http://www.orpha.net/ORDO/Orphanet_98634

subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791

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