Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

Axenfeld-Rieger syndrome

Synonyms

Hagedoom syndrome

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.

ID

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

comment

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

database_cross_reference

ICD10CM:Q13.81

SNOMEDCT_US_2022_09_01:47507006

UMLS_CUI:C0265341

ORDO:782

NCI:C131001

GARD:5701

MESH:C535679

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

Rieger's anomaly

Axenfeld syndrome

RGS - Rieger syndrome

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#DO_rare_slim

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

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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http://purl.bioontology.org/ontology/MESH/C535679 Medical Subject Headings LOOM