Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

anterior segment dysgenesis

Synonyms

anterior segment developmental anomaly

Definitions

An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.

ID

http://purl.obolibrary.org/obo/DOID_0060648

database_cross_reference

OMIM:PS107250

GARD:10025

ORDO:88632

ICD10CM:Q13.8

definition

An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.

disease has basis in

http://purl.obolibrary.org/obo/SO_0000704

has exact synonym

anterior segment developmental anomaly

corneal opacification and other ocular anomalies

sclerocornea with other ocular anomalies

has_alternative_id

DOID:0060605

has_obo_namespace

disease_ontology

id

DOID:0060648

in_subset

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

label

anterior segment dysgenesis

notation

DOID:0060648

prefLabel

anterior segment dysgenesis

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050177

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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD11CN/LA11.2 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU053769 Online Mendelian Inheritance in Man LOOM