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Disease association ontology term - MONDO:0021129 - microphthalmia

Term summary

ID
MONDO:0021129
Name
microphthalmia
Ontology or CV name
Disease association
Definition
Congenital or developmental anomaly in which the eyeballs are abnormally small.

Parents

Annotation

Disease association

MONDO:0021129 - microphthalmia

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Genes:

MONDO:0008955 - cerebrooculofacioskeletal syndrome 1

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MONDO:0012553 - cerebrooculofacioskeletal syndrome 2

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MONDO:0014696 - cerebrooculofacioskeletal syndrome 3

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MONDO:0012554 - cerebrooculofacioskeletal syndrome 4

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MONDO:0014050 - isolated microphthalmia 8

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MONDO:0024552 - linear skin defects with multiple congenital anomalies 1

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MONDO:0013783 - microphthalmia, isolated, with coloboma 7

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MONDO:0010671 - microphthalmia, syndromic 1

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MONDO:0975809 - microphthalmia/coloboma 13

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MONDO:0014296 - Warburg micro syndrome 4

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MONDO:0010485 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

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MONDO:0010216 - xeroderma pigmentosum group G

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