hereditary macular dystrophy
MONDO:0020242Mondo
Findings
No curated finding names hereditary macular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Macular dystrophy that is related to a change in a gene.
Definition from the Mondo Disease Ontology (MONDO:0020242), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Macular dystrophyMondoHP:0007754
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (17)
- AICA-ribosiduria
- benign concentric annular macular dystrophy
- coloboma of macula
- coloboma of macula-brachydactyly type B syndrome
- cone dystrophy
- EEM syndrome
- familial flecked retinopathy
- macular coloboma-cleft palate-hallux valgus syndrome
- macular corneal dystrophy
- macular dystrophy with or without cone dysfunction
- macular dystrophy, fenestrated sheen type
- macular dystrophy, retinal
- macular dystrophy, X-linked
- occult macular dystrophy
- patterned dystrophy of the retinal pigment epithelium
- renal hypomagnesemia 5 with ocular involvement
- vitelliform macular dystrophy
Other names
2 names
Resolves to: hereditary macular dystrophy
- Also called
- genetic macular dystrophygenetic macular dystrophy (disease)