Genopathy
Gene-Disorder Association · Article
Gene
MACOM
Macrophthalmia, Colobomatous, With Microcornea
Disorder
Macrophthalmia, Colobomatous, With Microcornea
First reported 1982
Key publication · disorder Focal dermal hypoplasia: ocular manifestations in a male.Journal of pediatric ophthalmology and strabismus · 1982
Manually curated
Association Review

In brief

The association between MACOM (Macrophthalmia, Colobomatous, With Microcornea) and Macrophthalmia, Colobomatous, With Microcornea is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 20
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
Macrophthalmia, Colobomatous, With Microcornea

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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04
Phenotype

Clinical features

13 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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05
Provenance

References & sources

3 references

Every source and publication cited across this dossier, as one numbered reference list.

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