Congenital corneal opacities, cornea guttata, and corectopia
disease diseaseOn this page
Summary
Congenital corneal opacities, cornea guttata, and corectopia (MONDO:0012046) is a disease. A subtype of otosclerosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital corneal opacities, cornea guttata, and corectopia |
| Mondo ID | MONDO:0012046 |
| MeSH | C563921 |
| OMIM | 608484 |
| UMLS | C1837970 |
| MedGen | 324911 |
| GARD | 0024838 |
| Is cancer (heuristic) | no |
Also known as: congenital corneal opacities, cornea guttata, and corectopia
Disease family
This is a subtype of otosclerosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › auditory system disorder › inner ear disorder › otosclerosis › congenital corneal opacities, cornea guttata, and corectopia
Related subtypes (10): otosclerosis 1, otosclerosis 2, otosclerosis 3, otosclerosis 5, otosclerosis 4, otosclerosis 7, otosclerosis 8, otosclerosis 10, otosclerosis 11, otosclerosis 12
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.