Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Axenfeld anomaly

Synonyms
Definitions

A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.

ID

http://www.orpha.net/ORDO/Orphanet_98978

definition

A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978

hasDbXref

OMIM:602482

ICD-10:Q15.0

OMIM:601631

MedDRA:10058653

ICD-11:LA11.2

UMLS:C0266548

label

Axenfeld anomaly

notation

ORPHA:98978

part_of

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

prefixIRI

ORDO:Orphanet_98978

prefLabel

Axenfeld 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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