Mondo Disease Ontology - HL7 Terminology (THO) v6.0.1

HL7 Terminology (THO)
6.0.1 - Publication International flag

This page is part of the HL7 Terminology (v6.0.1: Release) based on FHIR (HL7® FHIR® Standard) v5.0.0. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

NamingSystem: Mondo Disease Ontology

Official URL: http://terminology.hl7.org/NamingSystem/MONDO				Version: 1.0.0
Active as of 2022-11-18			Responsible: The Monarch Initiative	Computable Name: MONDO

The Mondo Disease Ontology is a semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology that contains cross-species disease terminology.

Numerous sources for disease definitions and data models currently exist, which include HPO, OMIM, SNOMED CT, ICD, PhenoDB, MedDRA, MedGen, ORDO, DO, GARD, etc; however, these sources partially overlap and sometimes conflict, making it difficult to know definitively how they relate to each other. This has resulted in a proliferation of mappings between disease entries in different resources; however mappings are problematic: collectively, they are expensive to create and maintain. Most importantly, the mappings lack completeness, accuracy, and precision; as a result, mapping calls are often inconsistent between resources. The UMLS provides intermediate concepts through which other resources can be mapped, but these mappings suffer from the same challenges: they are not guaranteed to be one-to-one, especially in areas with evolving disease concepts such as rare disease.

In order to address the lack of a unified disease terminology that provides precise equivalences between disease concepts, we created Mondo, which provides a logic-based structure for unifying multiple disease resources.

Mondo’s development is coordinated with the Human Phenotype Ontology (HPO), which describes the individual phenotypic features that constitute a disease. Like the HPO, Mondo provides a hierarchical structure which can be used for classification or “rolling up” diseases to higher level groupings. It provides mappings to other disease resources, but in contrast to other mappings between ontologies, we precisely annotate each mapping using strict semantics, so that we know when two disease names or identifiers are equivalent or one-to-one, in contrast to simply being closely related.

For more information, see https://mondo.monarchinitiative.org/

Generated Narrative: NamingSystem MONDO

Summary

Defining URL

http://terminology.hl7.org/NamingSystem/MONDO

Version

1.0.0

Name

MONDO

Title

Mondo Disease Ontology

Status

active

Definition

The Mondo Disease Ontology is a semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology that contains cross-species disease terminology.

Numerous sources for disease definitions and data models currently exist, which include HPO, OMIM, SNOMED CT, ICD, PhenoDB, MedDRA, MedGen, ORDO, DO, GARD, etc; however, these sources partially overlap and sometimes conflict, making it difficult to know definitively how they relate to each other. This has resulted in a proliferation of mappings between disease entries in different resources; however mappings are problematic: collectively, they are expensive to create and maintain. Most importantly, the mappings lack completeness, accuracy, and precision; as a result, mapping calls are often inconsistent between resources. The UMLS provides intermediate concepts through which other resources can be mapped, but these mappings suffer from the same challenges: they are not guaranteed to be one-to-one, especially in areas with evolving disease concepts such as rare disease.

In order to address the lack of a unified disease terminology that provides precise equivalences between disease concepts, we created Mondo, which provides a logic-based structure for unifying multiple disease resources.

Mondo’s development is coordinated with the Human Phenotype Ontology (HPO), which describes the individual phenotypic features that constitute a disease. Like the HPO, Mondo provides a hierarchical structure which can be used for classification or “rolling up” diseases to higher level groupings. It provides mappings to other disease resources, but in contrast to other mappings between ontologies, we precisely annotate each mapping using strict semantics, so that we know when two disease names or identifiers are equivalent or one-to-one, in contrast to simply being closely related.

For more information, see https://mondo.monarchinitiative.org/

Publisher

The Monarch Initiative