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). [ https://www.aao.org/bcscsnippetdetail.aspx?id=42ca606e-d460-4bd1-91e7-6b1929600ab0 ]
Synonyms: ASGD anterior segment mesenchymal dysgenesis ASMD anterior segment ocular dysgenesis ASOD familial ocular anterior segment mesenchymal dysgenesis
Term information
- OMIMPS:107250 (MONDO:equivalentTo)
- UMLS:C1862839 (MONDO:equivalentTo)
- GARD:10025 (Orphanet:88632)
- DOID:0060648 (MONDO:equivalentTo)
- SCTID:65075004 (MONDO:equivalentTo)
- ICD9:743.49 (MONDO:relatedTo)
- Orphanet:88632 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/6745
https://github.com/monarch-initiative/mondo/issues/6876
https://github.com/monarch-initiative/mondo/issues/6744
http://purl.obolibrary.org/obo/DOID_0060648
http://identifiers.org/snomedct/65075004
https://omim.org/phenotypicSeries/PS107250
http://linkedlifedata.com/resource/umls/id/C1862839
http://www.orpha.net/ORDO/Orphanet_88632