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colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008927

A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. [ Orphanet:435930 ]

Term info

database cross reference
  • MESH:C565876 (MONDO:equivalentTo)
  • Orphanet:435930 (MONDO:equivalentTo)
  • DOID:0080635 (MONDO:equivalentTo)
  • OMIM:212550 (Orphanet:435930/e)
  • Orphanet:2542 (OMIM:212550)
  • UMLS:CN237578 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ODRMD [ OMIM:212550 MONDO:Lexical ]

definition

A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_435930, http://purl.obolibrary.org/obo/DOID_0080635, http://identifiers.org/mesh/C565876, https://omim.org/entry/212550, http://linkedlifedata.com/resource/umls/id/CN237578

has related synonym

ODRMD, optic DISC anomalies with retinal and/or macular dystrophy

id

MONDO:0008927

Term relations