raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:101435

Rare genetic eye disease

Synonyms: Rare genetic ophthalmologic disease

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enRare genetic eye diseaseRare genetic ophthalmologic disease
frMaladie génétique rare de l'oeilMaladie génétique rare des yeux · Maladie ophtalmologique génétique rare
deAugenkrankheit, genetisch bedingte
esEnfermedades oculares genéticas raras
itMalattia oculare genetica
nlZeldzame genetische oogziekteGenetische oftalmologische ziekte
ptDoença ocular, genética
plRzadkie genetyczne choroby oczuGenetyczna choroba oftalmologiczna
csVzácná geneticky podmíněná onemocnění okaVzácné genetické oftalmologické onemocnění
ukРідкісне генетично обумовлене захворювання очейРідкісне генетичне офтальмологічне захворювання
zh罕见遗传性眼病罕见遗传性眼科疾病
trNadir genetik göz hastalığıNadir genetik oftalmolojik hastalık
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO15107Evalidated
UMLSC5680375Evalidated
GARD19782Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (4):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card