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Disease association ontology term - MONDO:0011060 - early-onset non-syndromic cataract

Term summary

ID
MONDO:0011060
Name
early-onset non-syndromic cataract
Ontology or CV name
Disease association
Definition
Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.

Parents

Annotation

Disease association

MONDO:0013411 - cataract 16 multiple types

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MONDO:0011547 - cataract 31 multiple types

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MONDO:0013859 - cataract 38

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MONDO:0014565 - cataract 43

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MONDO:0014673 - cataract 44

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MONDO:0008925 - cataract 46 juvenile-onset

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MONDO:0020378 - early-onset posterior polar cataract

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MONDO:0021548 - total early-onset cataract

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