Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

anterior segment dysgenesis

Synonyms

ASMD

familial ocular anterior segment mesenchymal dysgenesis

ASGD

anterior segment ocular dysgenesis

anterior segment mesenchymal dysgenesis

ASOD

FOXE3-related ocular disorder

Definitions

A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).

ID

http://purl.obolibrary.org/obo/MONDO_0019503

database_cross_reference

GARD:0010025

OMIMPS:107250

ICD9:743.49

ICD10:Q13.8

Orphanet:88632

DC:0000735

SCTID:65075004

exactMatch

http://identifiers.org/snomedct/65075004

http://www.orpha.net/ORDO/Orphanet_88632

has exact synonym

ASMD

familial ocular anterior segment mesenchymal dysgenesis

ASGD

anterior segment ocular dysgenesis

anterior segment mesenchymal dysgenesis

ASOD

has related synonym

FOXE3-related ocular disorder

id

MONDO:0019503

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

anterior segment dysgenesis

notation

MONDO:0019503

prefLabel

anterior segment dysgenesis

should_conform_to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

textual definition

A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015217

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020149

http://purl.obolibrary.org/obo/MONDO_0003847

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