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Doyne honeycomb retinal dystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0007471

Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner. [ https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy ]

Synonyms: Doyne honeycomb degeneration of retina DHRD Doyne honeycomb retinal dystrophy Malattia leventinese dominant radial drusen dominant drusen

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:126600 (Orphanet:75376/e)
  • GARD:1912 (Orphanet:75376)
  • ICD10CM:H35.5 (Orphanet:75376/ntbt)
  • DOID:0060745 (MONDO:equivalentTo)
  • UMLS:C1832174 (Orphanet:75376)
  • Orphanet:75376 (OMIM:126600)
  • SCTID:193411004 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://identifiers.org/snomedct/193411004

https://omim.org/entry/126600

http://purl.obolibrary.org/obo/DOID_0060745

http://www.orpha.net/ORDO/Orphanet_75376

http://linkedlifedata.com/resource/umls/id/C1832174

has related synonym

DHD

familial drusen

drusen, radial, autosomal dominant

id

MONDO:0007471

seeAlso

https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy

https://search.clinicalgenome.org/kb/conditions/MONDO:0007471

Term relations