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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:exfoliation syndrome
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Accession:EFO:0004235 term browser browse the term
Definition:An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)
Synonyms:exact_synonym: DOID:13641;   Glaucoma Capsulare;   NCIT:C129025;   Pseudoexfoliation glaucoma;   Pseudoexfoliation syndrome;   XFG;   exfoliative syndrome;   http://identifiers.org/medgen/60133;   http://identifiers.org/mesh/D017889;   http://identifiers.org/snomedct/111514006;   http://linkedlifedata.com/resource/umls/id/C0206368;   pseudo-exfoliation syndrome
 related_synonym: XFS;   exfoliation glaucoma
 xref: DOID:13641;   ICD9:365.52;   MEDGEN:60133;   MESH:D017889;   MIM:177650;   MONDO:0008327;   MedDRA:10074027;   NCI:C129025;   ORDO:529819;   SCTID:111514006;   UMLS:C0206368


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  experimental factor 0
    material property 0
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        disease 0
          syndromic disease 0
            exfoliation syndrome 0
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  experimental factor 0
    material property 0
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          head and neck disorder 0
            disease of orbital region 0
              eye disease 0
                glaucoma 0
                  phacogenic glaucoma 0
                    exfoliation syndrome 0
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