raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:525677

Genetic congenital malformation of the eye with glaucoma as a major feature

Type
Category
Group
Group of disorders
Age of onset
Neonatal
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
enGenetic congenital malformation of the eye with glaucoma as a major feature
frMalformation congénitale génétique de l'oeil avec glaucome comme manifestation majeure
deGenetisch bedingte kongenitale Fehlbildung des Auges mit Glaukom als Hauptmerkmal
esMalformación congénita genética del ojo con glaucoma como característica principal
itMalformazione congenita dell'occhio di origine genetica con glaucoma come segno maggiore
nlGenetische congenitale malformatie van oog met glaucoom als hoofdkenmerk
ptMalformação do olho congénita genética com glaucoma como característica principal
plWrodzona malformacja oka uwarunkowana genetycznie, której objawem dominującym jest jaskra
csGeneticky podmíněný sekundární glaukom na podkladě dysgeneze genetického původu
ukГенетично обумовлена вроджена вада розвитку ока, основною ознакою якої є глаукома
zh以青光眼为主要特征的遗传性先天性眼畸形
trEsas klinik özelliği glokom olan gözün genetik doğumsal malformasyonu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681398Evalidated

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 (2):

Children (6):

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