loading...| Preferred Name |
anterior segment dysgenesis |
|
| Synonyms |
ASMD familial ocular anterior segment mesenchymal dysgenesis ASGD anterior segment ocular dysgenesis anterior segment mesenchymal dysgenesis ASOD |
|
| 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 |
OMIMPS:107250 ICD9:743.49 DOID:0060648 Orphanet:88632 GARD:10025 SCTID:65075004 icd11.foundation:943599144 UMLS:C1862839 |
|
| 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 |
https://omim.org/phenotypicSeries/PS107250 http://purl.obolibrary.org/obo/Orphanet_88632 http://identifiers.org/snomedct/65075004 |
|
| has_exact_synonym |
ASMD familial ocular anterior segment mesenchymal dysgenesis ASGD anterior segment ocular dysgenesis anterior segment mesenchymal dysgenesis ASOD |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6744 |
|
| id |
MONDO:0019503 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
anterior segment dysgenesis |
|
| notation |
MONDO:0019503 |
|
| prefLabel |
anterior segment dysgenesis |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0003847 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0003847 |