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anterior segment dysgenesis

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


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 ]

Term info

database cross reference
  • GARD:0010025 (MONDO:equivalentTo)
  • SCTID:65075004 (MONDO:equivalentTo)
  • Orphanet:88632 (MONDO:equivalentTo)
  • ICD9:743.49 (MONDO:relatedTo)
  • OMIMPS:107250 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
ASMD [ GARD:0010025 ]

abbreviation
ASOD [ GARD:0010025 ]

abbreviation
ASGD [ MONDO:cjm ]

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).

exactMatch

http://identifiers.org/snomedct/65075004, https://omim.org/phenotypicSeries/PS107250, http://purl.obolibrary.org/obo/Orphanet_88632

excluded subClassOf

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

has exact synonym

ASGD, anterior segment mesenchymal dysgenesis, ASMD, anterior segment ocular dysgenesis, ASOD, familial ocular anterior segment mesenchymal dysgenesis

id

MONDO:0019503