Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: anterior segment dysgenesis caused by mutation in PXDN sclerocornea with other ocular anomalies anterior segment dysgenesis 7, with sclerocornea PXDN-related ocular dysgenesis anterior segment dysgenesis 7 CCMCO PXDN anterior segment dysgenesis
Term information
- Orphanet:289499 (OMIM:269400)
- DOID:0080612 (MONDO:equivalentTo)
- UMLS:C3151617 (OMIM:269400)
- OMIM:269400 (Orphanet:289499/e)
- GARD:17327 (Orphanet:289499)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/6782
https://omim.org/entry/269400
http://purl.obolibrary.org/obo/DOID_0080612
http://www.orpha.net/ORDO/Orphanet_289499
http://linkedlifedata.com/resource/umls/id/C3151617
corneal opacification with Other ocular anomalies
corneal opacification and other ocular anomalies
ASGD7
COPOA
corneal opacification with other ocular anomalies
sclerocornea with Other ocular anomalies
congenital cataract microcornea with corneal opacity