Human Disease Ontology

Last uploaded: June 2, 2024
Preferred Name

Axenfeld-Rieger syndrome

Synonyms

Anomaly, Rieger's

Hagedoom syndrome

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_14686

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C0265341

SNOMEDCT_US_2023_03_01:47507006

NCI:C131001

MESH:C535679

ICD10CM:Q13.81

GARD:5701

ORDO:782

definition

An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.

disease has location

http://purl.obolibrary.org/obo/UBERON_0000970

has exact synonym

Anomaly, Rieger's

RGS - Rieger syndrome

Axenfeld syndrome

Rieger's anomaly

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

has_related_synonym

Hagedoom syndrome

id

DOID:14686

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Axenfeld-Rieger syndrome

notation

DOID:14686

prefLabel

Axenfeld-Rieger syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_5614

http://purl.obolibrary.org/obo/DOID_0050736

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