# HPO - ORDO Ontological Module (HOOM)

> Orphanet provides phenotypic annotations of the rare diseases in the Orphanet nomenclature using...

- Page: https://library.schematica.io/model/d109cf1c7d034f928da7c556376f6bd5
- Model type: Ontology
- License: CC BY 4.0
- Access type: Free
- Access method: Download
- Model size: Huge
- Formats: OWL
- Domains: Healthcare
- External link: https://bioportal.bioontology.org/ontologies/HOOM
- Contact: David Lagorce (david.lagorce@inserm.fr)
- Listed in library: 2025-06-12
- Last updated: 2025-09-10

## Description

## Ontology Info

| Field | Value |
|-------|-------|
| Acronyme | HOOM |
| Description | Orphanet provides phenotypic annotations of the rare diseases in the Orphanet nomenclature using the Human Phenotype Ontology (HPO). HOOM is a module that qualifies the annotation between a clinical entity and phenotypic abnormalities according to a frequency and by integrating the notion of diagnostic criterion. In ORDO a clinical entity is either a group of rare disorders, a rare disorder or a subtype of disorder. The phenomes branch of ORDO has been refactored as a logical import of HPO, and the HPO-ORDO phenotype disease-annotations have been provided in a series of triples in OBAN format in which associations, frequency and provenance are modeled.<br><br>HOOM is provided as an OWL (Ontologies Web Languages) file, using OBAN, the Orphanet Rare Disease Ontology (ORDO), and HPO ontological models.<br><br>HOOM provides extra possibilities for researchers, pharmaceutical companies and others wishing to co-analyse rare and common disease phenotype associations, or re-use the integrated ontologies in genomic variants repositories or match-making tools.  |
| Format | OWL |
| Categories | Health, Biomedical Resources, Human, Phenotype |
| Groups |  |

## Metrics

| Metric | Value |
|--------|-------|
| Classes | 132,786 |
| Individuals | 1 |
| Properties | 14 |
| Max Depth | 1 |
| Max Child Count | 114,800 |
| Average Child Count | 16,598 |
| Classes With One Child | 0 |
| Classes With More Than 25 Children | 5 |
| Classes With No Definition | 128,389 |

## Projects using HOOM

- [Solving the Unsolved Rare Diseases](https://bioportal.bioontology.org/projects/Solve-RD)
- [Harmonising phenomics information for a better interoperability in the RD field](https://bioportal.bioontology.org/projects/hipbi-rd)
- [HPO - ORDO Ontological Module](https://bioportal.bioontology.org/projects/HOOM)

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Source: https://library.schematica.io/model/d109cf1c7d034f928da7c556376f6bd5