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oculoauricular syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0012802

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia). [ Orphanet:157962 ]

Synonyms: oculoauricular syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0060482 (MONDO:equivalentTo)
  • OMIM:612109 (Orphanet:157962/e)
  • Orphanet:157962 (OMIM:612109)
  • GARD:16988 (Orphanet:157962)
  • MESH:C567416 (MONDO:equivalentTo)
  • UMLS:C2677500 (OMIM:612109)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C2677500

https://omim.org/entry/612109

http://purl.obolibrary.org/obo/DOID_0060482

http://www.orpha.net/ORDO/Orphanet_157962

http://identifiers.org/mesh/C567416

has related synonym

Schorderet-Munier-Franceschetti syndrome

OCACS

oculoauricular syndrome, Schorderet type

microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear

id

MONDO:0012802

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012802

Term relations