# Cerebrotendinous Xanthomatosis Ontology (CTX)

> The ontology represents CTX phenotypes, genetic variants, and bidirectional relationships...

- Page: https://library.schematica.io/model/0bf33cd854aa4dcc8c2544a02161b2a2
- Model type: Ontology
- License: CC BY 4.0
- Access type: Free
- Access method: Download
- Model size: Small
- Formats: OWL
- Domains: Healthcare
- Audiences: Researcher
- External link: https://bioportal.bioontology.org/ontologies/CTX
- Contact: Maria Taboada (maria.taboada@usc.es)
- Listed in library: 2025-06-12
- Last updated: 2025-09-10

## Description

## Ontology Info

| Field | Value |
|-------|-------|
| Acronyme | CTX |
| Description | The ontology represents CTX phenotypes, genetic variants, and bidirectional relationships between them though a patient model. The CTX ontology was build reusing the Human Phenotype Ontology (HPO) and the Snomed ct ontologies. <br>A set of temporal clinical manifestations are semantically annotated with a domain phenotype ontology and registered with a time-stamped value. |
| Format | OWL |
| Categories | Phenotype |
| Groups |  |

## Metrics

| Metric | Value |
|--------|-------|
| Classes | 479 |
| Individuals | 714 |
| Properties | 48 |
| Max Depth | 11 |
| Max Child Count | 20 |
| Average Child Count | 1 |
| Classes With One Child | 192 |
| Classes With More Than 25 Children | 0 |
| Classes With No Definition | 385 |

## Projects using CTX

No projects using CTX

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Source: https://library.schematica.io/model/0bf33cd854aa4dcc8c2544a02161b2a2